Mutagenetix > Incidental Mutations

Incidental Mutation 'R0269:Ush2a'

35124

Institutional Source

Beutler Lab

Gene Symbol

Ush2a

Ensembl Gene

ENSMUSG00000026609

Gene Name

usherin

Synonyms

A930011D15Rik, LOC381317, A930037M10Rik, LOC269160, Usherin, MUSH2A

MMRRC Submission

038495-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R0269 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

188262023-188965041 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 188810176 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 3313 (M3313K)

Ref Sequence

ENSEMBL: ENSMUSP00000050454 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000060479
AA Change: M3313K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000050454
Gene: ENSMUSG00000026609
AA Change: M3313K

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

Meta Mutation Damage Score

0.4025

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.1%
20x: 93.6%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,954,000	V231I	possibly damaging	Het
Abca1	T	C	4: 53,044,228	D1798G	probably benign	Het
Adcy2	T	A	13: 68,678,606	K660*	probably null	Het
Alk	G	T	17: 72,603,583	P43T	probably damaging	Het
Amhr2	T	C	15: 102,447,068	C189R	probably benign	Het
Arrb1	T	C	7: 99,594,677	L278P	probably damaging	Het
AW551984	T	C	9: 39,599,950	Y153C	probably damaging	Het
Bpifb1	A	G	2: 154,212,947	D253G	possibly damaging	Het
Bpifb9b	C	T	2: 154,319,625	T559M	probably benign	Het
Cd46	T	G	1: 195,064,688	I339L	probably benign	Het
Cdkn2aip	A	G	8: 47,711,977	S234P	probably damaging	Het
Chil3	T	C	3: 106,155,756	K173E	probably benign	Het
Csf2rb2	G	T	15: 78,288,865	T265N	probably benign	Het
Cyp2c40	A	G	19: 39,773,896	F436L	probably damaging	Het
D130040H23Rik	T	C	8: 69,300,794	F24S	probably benign	Het
Defb12	G	T	8: 19,114,359	A34E	probably damaging	Het
Fam234a	A	T	17: 26,216,617	D264E	probably benign	Het
Fbxl17	A	C	17: 63,384,992	F42V	probably damaging	Het
Gldc	T	A	19: 30,118,602	I670F	probably damaging	Het
Guf1	A	C	5: 69,559,599	Q168P	probably damaging	Het
Hcn2	A	G	10: 79,734,241		probably benign	Het
Hddc2	A	G	10: 31,327,946	M190V	probably benign	Het
Kcnq2	T	C	2: 181,096,974	E294G	probably benign	Het
Kdelr1	T	A	7: 45,874,039		probably benign	Het
Kidins220	T	A	12: 25,040,512	H1158Q	probably damaging	Het
Laptm5	A	T	4: 130,930,816	N185Y	probably benign	Het
Mgat4a	A	G	1: 37,490,307	Y164H	possibly damaging	Het
Mlh3	C	A	12: 85,268,405	V336L	probably benign	Het
Myadm	A	G	7: 3,296,757	T12A	unknown	Het
Nol8	T	C	13: 49,654,445	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,783,933	D308G	possibly damaging	Het
Olfr1036	A	G	2: 86,075,141	M134V	probably benign	Het
Olfr1196	A	G	2: 88,700,696	V211A	probably damaging	Het
Olfr313	T	C	11: 58,817,149	V47A	probably damaging	Het
Olfr466	A	T	13: 65,152,878	Y218F	possibly damaging	Het
Olfr954	T	C	9: 39,461,794	M118T	probably damaging	Het
Oog3	A	T	4: 144,160,214	V112D	probably benign	Het
Pramef17	A	G	4: 143,993,518		probably benign	Het
Prss39	A	T	1: 34,500,198	H173L	probably damaging	Het
Rabl6	A	G	2: 25,586,866		probably null	Het
Recql5	T	C	11: 115,928,224	D172G	possibly damaging	Het
Reln	T	C	5: 21,920,537	D2716G	probably damaging	Het
Rgs7	A	G	1: 175,270,820	S58P	possibly damaging	Het
Sema6d	T	A	2: 124,660,745	F583L	possibly damaging	Het
Sgsm1	T	C	5: 113,286,929		probably null	Het
Slc22a19	A	T	19: 7,709,621		probably benign	Het
Slc6a21	T	A	7: 45,286,908	Y428*	probably null	Het
Smarca4	T	G	9: 21,636,201	M260R	probably benign	Het
Smg6	C	A	11: 75,162,931	T1413K	probably benign	Het
Spata17	T	C	1: 187,097,872	I322V	probably benign	Het
Stxbp1	A	C	2: 32,802,783	I407S	probably damaging	Het
Sult1d1	A	T	5: 87,564,802	I61N	probably damaging	Het
Sytl2	T	C	7: 90,403,020		probably benign	Het
Tm4sf5	T	A	11: 70,510,669	S165T	probably damaging	Het
Tmx2	T	C	2: 84,672,396	D256G	probably benign	Het
Trmt11	T	A	10: 30,587,489	H210L	probably benign	Het
Zcchc6	A	T	13: 59,816,855		probably null	Het
Zfp955b	A	T	17: 33,305,463	S43R	probably damaging	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
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
R5779:Ush2a	UTSW	1	188443510	critical splice donor site	probably null
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
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'- GTAAGAAGGACCCTCATCGCACATC -3'
(R):5'- AGCACCTCCAAGCGGCTTTCTATC -3'

Sequencing Primer
(F):5'- CACATCTAAATCACCTTGGTGGG -3'
(R):5'- AAGCGGCTTTCTATCAATTACC -3'

Posted On

2013-05-09