Mutagenetix > Incidental Mutation

Incidental Mutation 'R5779:Ush2a'

446860

Institutional Source

Beutler Lab

Gene Symbol

Ush2a

Ensembl Gene

ENSMUSG00000026609

Gene Name

usherin

Synonyms

A930011D15Rik, LOC381317, A930037M10Rik, LOC269160, Usherin, MUSH2A

MMRRC Submission

043377-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R5779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

188262023-188965041 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 188443510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060479]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000060479

SMART Domains

Protein: ENSMUSP00000050454
Gene: ENSMUSG00000026609

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:Laminin_G_3	128	283	6.5e-16	PFAM
LamNT	310	513	6.79e-9	SMART
EGF_Lam	515	569	1.58e-3	SMART
EGF_Lam	572	635	5.69e-10	SMART
EGF_Lam	638	688	4.38e-11	SMART
EGF_Lam	691	741	3.56e-11	SMART
EGF_Lam	744	789	7.93e-9	SMART
EGF_Lam	792	841	3.37e-12	SMART
EGF_Lam	844	894	2.01e-10	SMART
EGF_Lam	897	945	5.43e-16	SMART
EGF_Lam	948	996	7.88e-4	SMART
EGF_Lam	999	1047	2.96e-8	SMART
FN3	1051	1130	1e-1	SMART
FN3	1145	1224	2.06e-3	SMART
FN3	1239	1342	8.69e-11	SMART
FN3	1356	1447	5.32e-6	SMART
FN3	1461	1570	2.63e1	SMART
LamG	1531	1672	5.39e-19	SMART
LamG	1727	1862	2.33e-23	SMART
FN3	1861	1931	9.15e1	SMART
FN3	1945	2032	2.24e-4	SMART
FN3	2047	2120	1.13e0	SMART
FN3	2134	2218	3.4e-4	SMART
FN3	2232	2306	1.59e-4	SMART
FN3	2320	2412	1.12e-4	SMART
FN3	2423	2510	8.9e-8	SMART
FN3	2524	2600	1.95e-4	SMART
FN3	2612	2701	4.67e-2	SMART
FN3	2715	2792	1.17e-7	SMART
FN3	2809	2902	1.12e-4	SMART
FN3	2913	2997	5.36e-2	SMART
FN3	3011	3089	2.46e-1	SMART
FN3	3101	3477	2.85e1	SMART
FN3	3491	3568	4e-1	SMART
FN3	3582	3659	5.87e-8	SMART
FN3	3673	3750	1.75e-6	SMART
FN3	3764	3845	9.62e-4	SMART
FN3	3859	3943	2.41e-4	SMART
FN3	3954	4044	5.11e-8	SMART
FN3	4058	4133	1.06e0	SMART
FN3	4147	4241	7.87e-9	SMART
FN3	4255	4334	1.15e-1	SMART
FN3	4348	4422	6.39e-9	SMART
FN3	4435	4510	6.91e-5	SMART
FN3	4521	4610	2.28e-5	SMART
FN3	4626	4713	1.71e0	SMART
FN3	4724	4805	1.3e0	SMART
FN3	4817	4909	3.62e-8	SMART
transmembrane domain	5032	5054	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124358

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

88% (52/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,881,061	N190Y	probably benign	Het
2310035C23Rik	T	G	1: 105,687,347	N246K	probably damaging	Het
Abca6	T	C	11: 110,184,670	M1332V	probably benign	Het
Afg3l2	T	C	18: 67,440,443	K132R	probably null	Het
Arap3	T	C	18: 37,984,365	D886G	probably damaging	Het
B3gntl1	G	T	11: 121,651,676		probably null	Het
Cdk12	T	A	11: 98,219,074	S640R	probably benign	Het
Ceacam12	C	A	7: 18,069,154	P162T	probably benign	Het
Chrna5	C	A	9: 54,998,104	H67N	probably benign	Het
Copb1	T	A	7: 114,219,572	D837V	probably damaging	Het
D11Wsu47e	A	G	11: 113,687,992	D71G	probably benign	Het
Dcaf5	C	T	12: 80,338,832	R840H	probably benign	Het
Ect2l	T	A	10: 18,163,438	Q324L	probably benign	Het
Eef1e1	T	C	13: 38,646,273	N141S	probably damaging	Het
Eif2ak4	A	C	2: 118,412,963	N208T	possibly damaging	Het
Ext1	A	G	15: 53,344,553	Y271H	probably damaging	Het
Fam173a	A	G	17: 25,790,657	V194A	probably benign	Het
Fbxo5	G	A	10: 5,800,303	R323C	possibly damaging	Het
Fpr-rs3	C	A	17: 20,624,226	A218S	possibly damaging	Het
Gm20499	G	A	5: 114,817,021		probably benign	Het
Gucy1b2	C	A	14: 62,414,301	L400F	possibly damaging	Het
Hgd	T	A	16: 37,593,371	L24H	probably benign	Het
Hmx3	C	A	7: 131,544,328	S255*	probably null	Het
Ifrd1	A	T	12: 40,203,370	F448I	probably damaging	Het
Igfn1	T	A	1: 135,966,840	E1996V	probably benign	Het
Itpr1	G	A	6: 108,352,143	G173R	probably damaging	Het
Kbtbd8	T	C	6: 95,118,534	S26P	probably benign	Het
Kctd17	A	T	15: 78,437,133		probably benign	Het
Matr3	T	C	18: 35,584,522	S258P	possibly damaging	Het
Mpp4	G	A	1: 59,151,666	A90V	probably benign	Het
Mrpl20	G	A	4: 155,806,921	R34Q	probably damaging	Het
Neb	A	T	2: 52,245,301	S3266T	probably damaging	Het
Nipal3	A	G	4: 135,452,339		probably benign	Het
Npas2	A	T	1: 39,287,571	T46S	possibly damaging	Het
Nsd3	G	T	8: 25,682,669	E815*	probably null	Het
Nup98	C	A	7: 102,152,361	V786L	probably benign	Het
Olfr730	A	T	14: 50,186,746	M157K	possibly damaging	Het
Pcdhb3	T	C	18: 37,301,467	V162A	probably benign	Het
Pcgf2	G	A	11: 97,690,291	P58L	probably damaging	Het
Penk	A	G	4: 4,134,318	F110L	probably damaging	Het
Scfd1	A	G	12: 51,431,529	N508S	probably benign	Het
Scn2a	T	C	2: 65,764,483	V1892A	probably benign	Het
Sema6a	G	A	18: 47,248,826	R885C	probably damaging	Het
Sik2	T	C	9: 50,895,845	H755R	probably benign	Het
Slc36a3	A	T	11: 55,135,268	Y241*	probably null	Het
Smg5	T	C	3: 88,351,618		probably benign	Het
Spag9	A	G	11: 94,114,253	T1049A	probably benign	Het
Tas2r103	T	C	6: 133,036,945	M53V	probably benign	Het
Tpr	C	T	1: 150,423,541	A1090V	probably damaging	Het
Traf5	T	A	1: 191,997,672	R473W	probably damaging	Het
Vit	A	G	17: 78,546,426	T34A	probably benign	Het

Other mutations in Ush2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ush2a	APN	1	188864678	missense	probably benign	0.00
IGL00391:Ush2a	APN	1	188916061	missense	probably damaging	1.00
IGL00429:Ush2a	APN	1	188400114	nonsense	probably null
IGL00484:Ush2a	APN	1	188782513	missense	probably benign	0.00
IGL00519:Ush2a	APN	1	188444668	missense	probably benign	0.03
IGL00567:Ush2a	APN	1	188964917	missense	probably damaging	1.00
IGL00823:Ush2a	APN	1	188911443	missense	possibly damaging	0.61
IGL00940:Ush2a	APN	1	188357961	nonsense	probably null
IGL00951:Ush2a	APN	1	188263465	missense	probably benign	0.33
IGL00956:Ush2a	APN	1	188753522	missense	probably damaging	0.99
IGL01096:Ush2a	APN	1	188678377	missense	probably damaging	1.00
IGL01108:Ush2a	APN	1	188862825	missense	probably benign	0.00
IGL01315:Ush2a	APN	1	188633614	missense	possibly damaging	0.51
IGL01318:Ush2a	APN	1	188814353	missense	probably benign	0.00
IGL01324:Ush2a	APN	1	188848992	missense	probably benign	0.38
IGL01326:Ush2a	APN	1	188263321	nonsense	probably null
IGL01384:Ush2a	APN	1	188553228	missense	possibly damaging	0.65
IGL01466:Ush2a	APN	1	188911622	missense	probably benign	0.00
IGL01518:Ush2a	APN	1	188399785	missense	probably benign	0.01
IGL01585:Ush2a	APN	1	188430727	missense	probably damaging	1.00
IGL01595:Ush2a	APN	1	188654724	critical splice donor site	probably null
IGL01657:Ush2a	APN	1	188826461	missense	probably benign	0.03
IGL01797:Ush2a	APN	1	188263509	missense	probably damaging	1.00
IGL01802:Ush2a	APN	1	188436957	missense	probably damaging	0.99
IGL01836:Ush2a	APN	1	188759863	splice site	probably benign
IGL01938:Ush2a	APN	1	188797845	missense	probably damaging	1.00
IGL01976:Ush2a	APN	1	188911241	missense	probably benign	0.04
IGL02023:Ush2a	APN	1	188733514	missense	probably benign	0.03
IGL02126:Ush2a	APN	1	188263391	missense	probably benign	0.01
IGL02133:Ush2a	APN	1	188443343	missense	probably damaging	1.00
IGL02147:Ush2a	APN	1	188864703	missense	probably benign
IGL02275:Ush2a	APN	1	188263269	missense	possibly damaging	0.67
IGL02314:Ush2a	APN	1	188633629	missense	probably benign	0.00
IGL02353:Ush2a	APN	1	188728438	missense	probably benign	0.04
IGL02360:Ush2a	APN	1	188728438	missense	probably benign	0.04
IGL02367:Ush2a	APN	1	188784746	missense	probably benign
IGL02402:Ush2a	APN	1	188267108	missense	probably benign	0.02
IGL02410:Ush2a	APN	1	188915997	missense	probably damaging	1.00
IGL02490:Ush2a	APN	1	188810364	missense	probably damaging	1.00
IGL02500:Ush2a	APN	1	188822696	missense	probably damaging	1.00
IGL02511:Ush2a	APN	1	188743687	critical splice donor site	probably null
IGL02517:Ush2a	APN	1	188915998	missense	probably damaging	1.00
IGL02536:Ush2a	APN	1	188957266	critical splice acceptor site	probably null
IGL02585:Ush2a	APN	1	188728333	missense	probably benign	0.00
IGL02610:Ush2a	APN	1	188444466	missense	probably damaging	0.98
IGL02677:Ush2a	APN	1	188734685	missense	probably damaging	1.00
IGL02691:Ush2a	APN	1	188734752	missense	probably damaging	1.00
IGL02740:Ush2a	APN	1	188648388	missense	possibly damaging	0.68
IGL02744:Ush2a	APN	1	188358717	splice site	probably null
IGL02749:Ush2a	APN	1	188946958	missense	probably damaging	0.99
IGL02806:Ush2a	APN	1	188810357	nonsense	probably null
IGL02870:Ush2a	APN	1	188678358	missense	probably benign	0.42
IGL02894:Ush2a	APN	1	188451846	missense	probably damaging	1.00
IGL02904:Ush2a	APN	1	188906506	missense	probably benign	0.06
IGL03000:Ush2a	APN	1	188549856	missense	possibly damaging	0.81
IGL03015:Ush2a	APN	1	188436950	missense	probably benign	0.01
IGL03036:Ush2a	APN	1	188864621	missense	possibly damaging	0.80
IGL03057:Ush2a	APN	1	188797838	missense	probably damaging	1.00
IGL03230:Ush2a	APN	1	188466193	missense	probably benign	0.09
IGL03278:Ush2a	APN	1	188849116	missense	probably damaging	1.00
BB003:Ush2a	UTSW	1	188728600	missense	probably benign
BB013:Ush2a	UTSW	1	188728600	missense	probably benign
PIT4283001:Ush2a	UTSW	1	188436867	missense	probably benign	0.01
R0003:Ush2a	UTSW	1	188578491	missense	probably damaging	0.99
R0030:Ush2a	UTSW	1	188822657	missense	possibly damaging	0.51
R0035:Ush2a	UTSW	1	188356888	missense	probably benign
R0038:Ush2a	UTSW	1	188626612	missense	probably benign	0.00
R0038:Ush2a	UTSW	1	188626612	missense	probably benign	0.00
R0067:Ush2a	UTSW	1	188964846	missense	probably damaging	0.99
R0067:Ush2a	UTSW	1	188964846	missense	probably damaging	0.99
R0103:Ush2a	UTSW	1	188319070	missense	possibly damaging	0.81
R0103:Ush2a	UTSW	1	188319070	missense	possibly damaging	0.81
R0122:Ush2a	UTSW	1	188948455	missense	possibly damaging	0.65
R0206:Ush2a	UTSW	1	188531761	missense	probably damaging	0.99
R0208:Ush2a	UTSW	1	188531761	missense	probably damaging	0.99
R0230:Ush2a	UTSW	1	188850104	missense	probably damaging	1.00
R0269:Ush2a	UTSW	1	188810176	missense	probably benign	0.33
R0319:Ush2a	UTSW	1	188948374	splice site	probably benign
R0358:Ush2a	UTSW	1	188537780	missense	possibly damaging	0.83
R0379:Ush2a	UTSW	1	188451819	missense	probably damaging	1.00
R0427:Ush2a	UTSW	1	188400281	missense	probably damaging	1.00
R0437:Ush2a	UTSW	1	188911031	missense	probably benign	0.00
R0462:Ush2a	UTSW	1	188910939	missense	probably benign
R0510:Ush2a	UTSW	1	188734663	splice site	probably benign
R0531:Ush2a	UTSW	1	188443181	missense	probably benign	0.18
R0541:Ush2a	UTSW	1	188714466	splice site	probably benign
R0549:Ush2a	UTSW	1	188946953	missense	probably damaging	0.99
R0562:Ush2a	UTSW	1	188356847	missense	probably damaging	1.00
R0636:Ush2a	UTSW	1	188822738	missense	probably benign
R0662:Ush2a	UTSW	1	188351093	missense	probably benign	0.26
R0685:Ush2a	UTSW	1	188400278	missense	probably damaging	1.00
R0718:Ush2a	UTSW	1	188797830	missense	probably damaging	1.00
R0725:Ush2a	UTSW	1	188951525	missense	probably damaging	1.00
R0735:Ush2a	UTSW	1	188864693	missense	probably benign	0.04
R0744:Ush2a	UTSW	1	188814406	splice site	probably benign
R0765:Ush2a	UTSW	1	188948574	missense	possibly damaging	0.67
R0862:Ush2a	UTSW	1	188542818	nonsense	probably null
R1067:Ush2a	UTSW	1	188550207	missense	probably benign	0.35
R1072:Ush2a	UTSW	1	188728717	missense	possibly damaging	0.91
R1099:Ush2a	UTSW	1	188648348	missense	probably benign	0.06
R1099:Ush2a	UTSW	1	188864639	missense	probably damaging	1.00
R1104:Ush2a	UTSW	1	188916256	missense	probably benign
R1106:Ush2a	UTSW	1	188910983	missense	possibly damaging	0.82
R1124:Ush2a	UTSW	1	188753536	missense	probably damaging	0.99
R1168:Ush2a	UTSW	1	188678411	missense	probably benign	0.01
R1199:Ush2a	UTSW	1	188759795	missense	probably benign	0.00
R1215:Ush2a	UTSW	1	188957282	missense	possibly damaging	0.66
R1307:Ush2a	UTSW	1	188357967	missense	probably damaging	1.00
R1307:Ush2a	UTSW	1	188451840	missense	probably damaging	1.00
R1311:Ush2a	UTSW	1	188947145	missense	possibly damaging	0.86
R1388:Ush2a	UTSW	1	188523318	splice site	probably benign
R1416:Ush2a	UTSW	1	188436883	missense	probably damaging	1.00
R1424:Ush2a	UTSW	1	188542878	critical splice donor site	probably null
R1459:Ush2a	UTSW	1	188862851	missense	probably benign	0.05
R1470:Ush2a	UTSW	1	188400206	missense	probably benign	0.00
R1470:Ush2a	UTSW	1	188400206	missense	probably benign	0.00
R1477:Ush2a	UTSW	1	188849076	missense	probably benign	0.05
R1484:Ush2a	UTSW	1	188810337	nonsense	probably null
R1490:Ush2a	UTSW	1	188359841	missense	probably benign	0.24
R1510:Ush2a	UTSW	1	188648304	missense	probably damaging	1.00
R1522:Ush2a	UTSW	1	188797814	missense	possibly damaging	0.94
R1606:Ush2a	UTSW	1	188759766	missense	probably benign	0.17
R1618:Ush2a	UTSW	1	188814224	missense	probably benign	0.29
R1636:Ush2a	UTSW	1	188466176	missense	possibly damaging	0.53
R1646:Ush2a	UTSW	1	188415821	missense	probably damaging	1.00
R1660:Ush2a	UTSW	1	188916064	missense	probably benign
R1676:Ush2a	UTSW	1	188728585	missense	probably damaging	1.00
R1704:Ush2a	UTSW	1	188821796	missense	probably damaging	1.00
R1705:Ush2a	UTSW	1	188874869	missense	probably damaging	1.00
R1705:Ush2a	UTSW	1	188911541	missense	probably benign	0.40
R1760:Ush2a	UTSW	1	188910983	missense	possibly damaging	0.82
R1776:Ush2a	UTSW	1	188728203	missense	possibly damaging	0.83
R1782:Ush2a	UTSW	1	188911185	missense	probably benign	0.06
R1794:Ush2a	UTSW	1	188862809	missense	probably benign	0.00
R1796:Ush2a	UTSW	1	188910827	missense	probably benign	0.11
R1804:Ush2a	UTSW	1	188633729	critical splice donor site	probably null
R1835:Ush2a	UTSW	1	188451818	missense	probably benign	0.13
R1871:Ush2a	UTSW	1	188826468	missense	probably benign	0.02
R1876:Ush2a	UTSW	1	188678289	missense	possibly damaging	0.51
R1887:Ush2a	UTSW	1	188399980	missense	probably benign	0.05
R1896:Ush2a	UTSW	1	188550009	missense	probably benign	0.00
R1907:Ush2a	UTSW	1	188715064	missense	probably benign	0.01
R1940:Ush2a	UTSW	1	188951561	missense	probably null	0.89
R1950:Ush2a	UTSW	1	188755185	missense	probably damaging	1.00
R1991:Ush2a	UTSW	1	188578532	splice site	probably benign
R2043:Ush2a	UTSW	1	188916256	missense	probably benign	0.00
R2046:Ush2a	UTSW	1	188356927	missense	probably benign	0.01
R2059:Ush2a	UTSW	1	188381549	critical splice donor site	probably null
R2239:Ush2a	UTSW	1	188576214	missense	probably benign
R2365:Ush2a	UTSW	1	188378991	missense	possibly damaging	0.68
R2395:Ush2a	UTSW	1	188947040	missense	probably damaging	1.00
R2425:Ush2a	UTSW	1	188537804	missense	possibly damaging	0.82
R2519:Ush2a	UTSW	1	188267107	missense	probably benign
R3039:Ush2a	UTSW	1	188911547	missense	probably damaging	0.99
R3434:Ush2a	UTSW	1	188733758	missense	probably damaging	1.00
R3711:Ush2a	UTSW	1	188810292	missense	probably benign	0.05
R3712:Ush2a	UTSW	1	188810292	missense	probably benign	0.05
R3732:Ush2a	UTSW	1	188944760	missense	probably benign	0.16
R3746:Ush2a	UTSW	1	188810292	missense	probably benign	0.05
R3747:Ush2a	UTSW	1	188810292	missense	probably benign	0.05
R3883:Ush2a	UTSW	1	188263382	missense	probably benign
R3911:Ush2a	UTSW	1	188399954	missense	probably benign	0.05
R3934:Ush2a	UTSW	1	188263511	critical splice donor site	probably null
R3946:Ush2a	UTSW	1	188728504	missense	probably benign	0.01
R3974:Ush2a	UTSW	1	188381501	missense	probably benign	0.06
R4158:Ush2a	UTSW	1	188728710	missense	probably damaging	1.00
R4159:Ush2a	UTSW	1	188728710	missense	probably damaging	1.00
R4161:Ush2a	UTSW	1	188728710	missense	probably damaging	1.00
R4162:Ush2a	UTSW	1	188743680	missense	probably benign	0.00
R4255:Ush2a	UTSW	1	188759843	nonsense	probably null
R4280:Ush2a	UTSW	1	188578461	missense	probably benign	0.16
R4387:Ush2a	UTSW	1	188443431	missense	probably benign	0.00
R4416:Ush2a	UTSW	1	188356874	missense	probably damaging	0.97
R4494:Ush2a	UTSW	1	188553276	missense	possibly damaging	0.50
R4505:Ush2a	UTSW	1	188728596	missense	possibly damaging	0.92
R4522:Ush2a	UTSW	1	188864625	missense	probably damaging	1.00
R4584:Ush2a	UTSW	1	188451798	missense	probably benign	0.00
R4599:Ush2a	UTSW	1	188911647	missense	probably benign	0.01
R4605:Ush2a	UTSW	1	188910801	missense	probably damaging	1.00
R4632:Ush2a	UTSW	1	188395874	missense	possibly damaging	0.82
R4688:Ush2a	UTSW	1	188399941	missense	probably benign	0.01
R4751:Ush2a	UTSW	1	188850087	missense	probably damaging	0.98
R4770:Ush2a	UTSW	1	188549879	missense	probably benign	0.25
R4771:Ush2a	UTSW	1	188797769	missense	possibly damaging	0.92
R4798:Ush2a	UTSW	1	188743545	missense	probably damaging	1.00
R4821:Ush2a	UTSW	1	188753651	missense	probably benign	0.32
R4857:Ush2a	UTSW	1	188537720	missense	probably benign	0.01
R4860:Ush2a	UTSW	1	188553275	missense	probably benign	0.07
R4860:Ush2a	UTSW	1	188553275	missense	probably benign	0.07
R4898:Ush2a	UTSW	1	188626608	missense	probably benign	0.37
R4993:Ush2a	UTSW	1	188910720	missense	probably benign	0.03
R5035:Ush2a	UTSW	1	188910808	missense	probably damaging	1.00
R5061:Ush2a	UTSW	1	188957274	missense	probably benign	0.03
R5150:Ush2a	UTSW	1	188451870	missense	possibly damaging	0.95
R5205:Ush2a	UTSW	1	188874936	missense	probably benign	0.21
R5212:Ush2a	UTSW	1	188444705	critical splice donor site	probably null
R5252:Ush2a	UTSW	1	188821717	missense	possibly damaging	0.83
R5260:Ush2a	UTSW	1	188947079	missense	possibly damaging	0.95
R5304:Ush2a	UTSW	1	188356798	missense	probably damaging	0.99
R5323:Ush2a	UTSW	1	188821677	critical splice acceptor site	probably null
R5330:Ush2a	UTSW	1	188728381	missense	probably benign	0.00
R5331:Ush2a	UTSW	1	188728381	missense	probably benign	0.00
R5332:Ush2a	UTSW	1	188351079	missense	probably damaging	1.00
R5371:Ush2a	UTSW	1	188443070	missense	probably benign	0.00
R5374:Ush2a	UTSW	1	188755206	missense	probably benign
R5377:Ush2a	UTSW	1	188912123	missense	probably benign	0.00
R5525:Ush2a	UTSW	1	188753606	missense	probably benign	0.01
R5558:Ush2a	UTSW	1	188797827	missense	possibly damaging	0.47
R5562:Ush2a	UTSW	1	188576217	missense	probably damaging	1.00
R5595:Ush2a	UTSW	1	188906498	missense	possibly damaging	0.95
R5620:Ush2a	UTSW	1	188759823	missense	possibly damaging	0.82
R5714:Ush2a	UTSW	1	188400257	missense	probably benign	0.00
R5743:Ush2a	UTSW	1	188436962	missense	probably benign	0.01
R5795:Ush2a	UTSW	1	188443397	missense	probably benign	0.34
R5897:Ush2a	UTSW	1	188821738	missense	probably damaging	1.00
R5918:Ush2a	UTSW	1	188356814	missense	probably benign	0.26
R6000:Ush2a	UTSW	1	188267026	nonsense	probably null
R6014:Ush2a	UTSW	1	188850040	missense	probably damaging	0.98
R6017:Ush2a	UTSW	1	188957514	critical splice donor site	probably null
R6020:Ush2a	UTSW	1	188728096	splice site	probably null
R6039:Ush2a	UTSW	1	188319020	missense	possibly damaging	0.76
R6039:Ush2a	UTSW	1	188319020	missense	possibly damaging	0.76
R6050:Ush2a	UTSW	1	188957324	missense	probably benign	0.06
R6083:Ush2a	UTSW	1	188267023	missense	probably damaging	1.00
R6091:Ush2a	UTSW	1	188399803	missense	probably damaging	1.00
R6120:Ush2a	UTSW	1	188358603	missense	probably benign	0.04
R6135:Ush2a	UTSW	1	188912106	missense	possibly damaging	0.68
R6141:Ush2a	UTSW	1	188357963	missense	possibly damaging	0.71
R6157:Ush2a	UTSW	1	188728270	missense	probably benign	0.00
R6180:Ush2a	UTSW	1	188399871	nonsense	probably null
R6191:Ush2a	UTSW	1	188263101	nonsense	probably null
R6217:Ush2a	UTSW	1	188743454	splice site	probably null
R6263:Ush2a	UTSW	1	188358642	missense	probably damaging	1.00
R6294:Ush2a	UTSW	1	188536370	missense	possibly damaging	0.49
R6320:Ush2a	UTSW	1	188356846	missense	probably benign	0.01
R6321:Ush2a	UTSW	1	188849046	nonsense	probably null
R6347:Ush2a	UTSW	1	188910887	missense	probably benign
R6382:Ush2a	UTSW	1	188814302	missense	probably benign	0.01
R6408:Ush2a	UTSW	1	188267032	nonsense	probably null
R6418:Ush2a	UTSW	1	188628566	missense	probably damaging	1.00
R6500:Ush2a	UTSW	1	188841527	missense	probably benign	0.00
R6504:Ush2a	UTSW	1	188911247	missense	probably benign	0.00
R6534:Ush2a	UTSW	1	188451802	nonsense	probably null
R6594:Ush2a	UTSW	1	188910798	missense	possibly damaging	0.93
R6612:Ush2a	UTSW	1	188911397	missense	possibly damaging	0.91
R6645:Ush2a	UTSW	1	188523331	missense	probably damaging	0.99
R6658:Ush2a	UTSW	1	188814359	missense	possibly damaging	0.95
R6726:Ush2a	UTSW	1	188753684	missense	possibly damaging	0.85
R6755:Ush2a	UTSW	1	188443219	missense	possibly damaging	0.95
R6782:Ush2a	UTSW	1	188356834	missense	probably benign
R6817:Ush2a	UTSW	1	188862864	missense	probably benign	0.03
R6834:Ush2a	UTSW	1	188356792	missense	probably damaging	1.00
R6851:Ush2a	UTSW	1	188533205	missense	probably benign	0.06
R6853:Ush2a	UTSW	1	188911237	nonsense	probably null
R6867:Ush2a	UTSW	1	188910973	missense	probably damaging	1.00
R6889:Ush2a	UTSW	1	188797871	missense	probably damaging	1.00
R6931:Ush2a	UTSW	1	188728383	missense	probably benign	0.01
R6953:Ush2a	UTSW	1	188263145	missense	possibly damaging	0.94
R6966:Ush2a	UTSW	1	188576244	missense	probably damaging	1.00
R7109:Ush2a	UTSW	1	188381484	missense	probably benign	0.19
R7153:Ush2a	UTSW	1	188728484	missense	possibly damaging	0.93
R7176:Ush2a	UTSW	1	188537728	missense	probably benign	0.00
R7182:Ush2a	UTSW	1	188753543	missense	probably benign	0.01
R7201:Ush2a	UTSW	1	188874754	missense	probably benign
R7223:Ush2a	UTSW	1	188810217	missense	probably benign	0.09
R7231:Ush2a	UTSW	1	188759763	missense	possibly damaging	0.49
R7240:Ush2a	UTSW	1	188911661	missense	possibly damaging	0.83
R7263:Ush2a	UTSW	1	188443329	missense	possibly damaging	0.94
R7329:Ush2a	UTSW	1	188553198	missense	probably damaging	0.97
R7343:Ush2a	UTSW	1	188415746	missense	probably benign	0.00
R7352:Ush2a	UTSW	1	188466124	missense	probably benign	0.04
R7384:Ush2a	UTSW	1	188400163	missense	probably damaging	0.99
R7391:Ush2a	UTSW	1	188962008	small deletion	probably benign
R7394:Ush2a	UTSW	1	188911416	missense	possibly damaging	0.83
R7403:Ush2a	UTSW	1	188633727	missense	probably damaging	1.00
R7408:Ush2a	UTSW	1	188733529	missense	probably benign	0.00
R7453:Ush2a	UTSW	1	188553111	missense	probably damaging	1.00
R7496:Ush2a	UTSW	1	188351087	missense	possibly damaging	0.50
R7552:Ush2a	UTSW	1	188267044	missense	possibly damaging	0.65
R7556:Ush2a	UTSW	1	188957493	missense	probably benign	0.31
R7575:Ush2a	UTSW	1	188822688	missense	possibly damaging	0.90
R7578:Ush2a	UTSW	1	188549913	missense	probably damaging	1.00
R7584:Ush2a	UTSW	1	188728109	critical splice acceptor site	probably null
R7589:Ush2a	UTSW	1	188542849	missense	probably benign	0.00
R7602:Ush2a	UTSW	1	188648409	missense	probably damaging	1.00
R7670:Ush2a	UTSW	1	188784708	missense	possibly damaging	0.78
R7743:Ush2a	UTSW	1	188810179	missense	probably benign	0.05
R7753:Ush2a	UTSW	1	188443406	missense	probably benign	0.28
R7767:Ush2a	UTSW	1	188553260	missense	probably benign	0.01
R7784:Ush2a	UTSW	1	188444592	missense	possibly damaging	0.55
R7831:Ush2a	UTSW	1	188759841	missense	probably damaging	0.98
R7834:Ush2a	UTSW	1	188733440	nonsense	probably null
R7847:Ush2a	UTSW	1	188430808	missense	probably damaging	1.00
R7926:Ush2a	UTSW	1	188728600	missense	probably benign
R7969:Ush2a	UTSW	1	188826371	missense	probably benign	0.02
R7978:Ush2a	UTSW	1	188399938	missense	probably benign	0.00
R7990:Ush2a	UTSW	1	188542799	missense	probably benign	0.00
R8001:Ush2a	UTSW	1	188911064	missense	probably damaging	0.98
R8039:Ush2a	UTSW	1	188957373	missense	probably damaging	1.00
R8077:Ush2a	UTSW	1	188542828	missense	probably benign	0.01
R8165:Ush2a	UTSW	1	188451755	missense	possibly damaging	0.70
R8208:Ush2a	UTSW	1	188874793	missense	possibly damaging	0.95
R8220:Ush2a	UTSW	1	188728666	missense	probably damaging	1.00
R8270:Ush2a	UTSW	1	188444641	missense	probably benign	0.06
R8316:Ush2a	UTSW	1	188446702	missense	probably benign	0.01
R8347:Ush2a	UTSW	1	188947084	missense	probably benign	0.02
R8360:Ush2a	UTSW	1	188466271	missense	probably benign	0.01
R8362:Ush2a	UTSW	1	188957453	missense	probably damaging	0.96
R8386:Ush2a	UTSW	1	188728206	missense	possibly damaging	0.80
R8401:Ush2a	UTSW	1	188542865	missense	probably benign	0.10
R8439:Ush2a	UTSW	1	188850057	missense	probably damaging	1.00
R8465:Ush2a	UTSW	1	188415678	missense	probably damaging	1.00
R8478:Ush2a	UTSW	1	188443232	missense	possibly damaging	0.83
R8540:Ush2a	UTSW	1	188542661	missense	probably benign	0.00
R8684:Ush2a	UTSW	1	188911023	missense	possibly damaging	0.45
R8685:Ush2a	UTSW	1	188466204	missense	probably damaging	1.00
R8699:Ush2a	UTSW	1	188911377	missense	probably damaging	1.00
R8720:Ush2a	UTSW	1	188358518	missense	probably benign	0.05
R8754:Ush2a	UTSW	1	188848965	nonsense	probably null
R8756:Ush2a	UTSW	1	188911944	missense	possibly damaging	0.91
R8788:Ush2a	UTSW	1	188743619	nonsense	probably null
R8803:Ush2a	UTSW	1	188944801	missense	probably benign
R8817:Ush2a	UTSW	1	188263034	start codon destroyed	probably benign	0.00
R8837:Ush2a	UTSW	1	188753650	missense	probably benign
R8880:Ush2a	UTSW	1	188728536	missense	probably benign	0.11
R8902:Ush2a	UTSW	1	188443084	missense	probably damaging	0.98
R8918:Ush2a	UTSW	1	188537820	missense	possibly damaging	0.85
R8940:Ush2a	UTSW	1	188400308	missense	probably benign	0.02
R8968:Ush2a	UTSW	1	188395759	missense	probably damaging	1.00
R8995:Ush2a	UTSW	1	188444653	missense	probably damaging	0.98
R9011:Ush2a	UTSW	1	188906479	missense	probably damaging	0.99
R9037:Ush2a	UTSW	1	188263290	missense	possibly damaging	0.51
R9063:Ush2a	UTSW	1	188263260	missense	probably benign	0.00
R9089:Ush2a	UTSW	1	188755177	nonsense	probably null
R9096:Ush2a	UTSW	1	188466136	missense	probably benign	0.00
R9118:Ush2a	UTSW	1	188654642	missense	probably damaging	0.98
R9174:Ush2a	UTSW	1	188728219	missense	probably damaging	0.99
R9210:Ush2a	UTSW	1	188784669	missense	probably null	0.01
R9242:Ush2a	UTSW	1	188633590	missense	probably damaging	1.00
R9321:Ush2a	UTSW	1	188356951	missense	probably damaging	0.97
R9338:Ush2a	UTSW	1	188576292	critical splice donor site	probably null
R9357:Ush2a	UTSW	1	188874950	missense	probably benign	0.01
R9358:Ush2a	UTSW	1	188874950	missense	probably benign	0.01
R9406:Ush2a	UTSW	1	188263449	missense	probably benign	0.00
R9407:Ush2a	UTSW	1	188911848	missense	probably damaging	1.00
R9428:Ush2a	UTSW	1	188443119	missense	probably damaging	1.00
R9456:Ush2a	UTSW	1	188826392	missense	probably benign	0.00
R9507:Ush2a	UTSW	1	188864740	nonsense	probably null
R9509:Ush2a	UTSW	1	188916243	missense	probably damaging	1.00
R9512:Ush2a	UTSW	1	188910963	missense	probably damaging	0.99
R9564:Ush2a	UTSW	1	188536354	missense	possibly damaging	0.90
R9612:Ush2a	UTSW	1	188359866	nonsense	probably null
R9670:Ush2a	UTSW	1	188628571	missense	probably benign	0.03
R9684:Ush2a	UTSW	1	188399881	missense	possibly damaging	0.67
R9798:Ush2a	UTSW	1	188911805	missense	possibly damaging	0.80
RF017:Ush2a	UTSW	1	188263469	missense	probably damaging	1.00
U24488:Ush2a	UTSW	1	188430766	missense	probably damaging	0.99
X0011:Ush2a	UTSW	1	188318969	missense	probably benign	0.00
X0024:Ush2a	UTSW	1	188400282	missense	probably damaging	1.00
X0026:Ush2a	UTSW	1	188319025	missense	possibly damaging	0.94
X0062:Ush2a	UTSW	1	188549854	missense	probably damaging	1.00
Y4340:Ush2a	UTSW	1	188743629	missense	possibly damaging	0.87
Y4341:Ush2a	UTSW	1	188743629	missense	possibly damaging	0.87
Z1088:Ush2a	UTSW	1	188911983	missense	probably benign
Z1088:Ush2a	UTSW	1	188947004	missense	probably benign	0.26
Z1176:Ush2a	UTSW	1	188356841	missense	probably damaging	1.00
Z1177:Ush2a	UTSW	1	188733544	missense	probably benign	0.00
Z1177:Ush2a	UTSW	1	188912210	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- CCTGTGTCTCCTATGAAGGTCC -3'
(R):5'- TGAAATACCCTCTTCCATATCCAG -3'

Sequencing Primer
(F):5'- GTGTCTCCTATGAAGGTCCAGAAAC -3'
(R):5'- TCTTCCATATCCAGAAGAAATGGC -3'

Posted On

2016-12-15