Mutagenetix > Incidental Mutation

Incidental Mutation 'R1441:Utrn'

161019

Institutional Source

Beutler Lab

Gene Symbol

Utrn

Ensembl Gene

ENSMUSG00000019820

Gene Name

utrophin

Synonyms

G-utrophin, Dmdl, DRP

MMRRC Submission

039496-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1441 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12257932-12745109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12559039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1405 (S1405P)

Ref Sequence

ENSEMBL: ENSMUSP00000151431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076817] [ENSMUST00000218635]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000076817
AA Change: S1405P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820
AA Change: S1405P

Domain	Start	End	E-Value	Type
CH	33	133	1.87e-24	SMART
CH	152	250	4.05e-20	SMART
SPEC	312	416	2.31e-18	SMART
SPEC	421	525	4.18e-16	SMART
SPEC	532	636	3.35e-6	SMART
low complexity region	665	679	N/A	INTRINSIC
SPEC	690	795	1.7e-7	SMART
SPEC	801	901	1e-4	SMART
SPEC	910	1012	8.24e-2	SMART
SPEC	1019	1121	1.32e-4	SMART
SPEC	1128	1229	2.64e-4	SMART
SPEC	1236	1333	4.42e-6	SMART
coiled coil region	1375	1401	N/A	INTRINSIC
SPEC	1438	1540	3.62e-2	SMART
SPEC	1547	1648	7.95e-1	SMART
SPEC	1655	1752	3.56e0	SMART
coiled coil region	1766	1795	N/A	INTRINSIC
SPEC	1870	1972	3.63e0	SMART
SPEC	1979	2080	5.15e-16	SMART
SPEC	2087	2183	3.71e0	SMART
SPEC	2227	2330	4.7e-10	SMART
SPEC	2337	2437	1.02e0	SMART
SPEC	2444	2553	2.35e-10	SMART
SPEC	2560	2685	8.77e-10	SMART
SPEC	2692	2794	4.13e-6	SMART
WW	2811	2843	5.59e-7	SMART
Pfam:EF-hand_2	2844	2962	3.8e-41	PFAM
Pfam:EF-hand_3	2966	3057	1.6e-39	PFAM
ZnF_ZZ	3062	3107	6.33e-17	SMART
coiled coil region	3250	3289	N/A	INTRINSIC
coiled coil region	3310	3354	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000218635
AA Change: S1405P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219724

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,481,194 (GRCm39)		probably null	Het
Ankrd16	T	C	2: 11,783,557 (GRCm39)	L53P	probably damaging	Het
Arsk	A	T	13: 76,223,083 (GRCm39)	N171K	probably benign	Het
Brwd1	A	C	16: 95,867,351 (GRCm39)	C161W	probably damaging	Het
Card9	T	C	2: 26,249,402 (GRCm39)	N53S	probably benign	Het
Ccdc13	A	T	9: 121,642,515 (GRCm39)	V403E	probably benign	Het
Ccdc83	T	A	7: 89,893,351 (GRCm39)	E135D	probably damaging	Het
Ccser1	C	T	6: 62,357,016 (GRCm39)	T818I	probably benign	Het
Cd44	T	A	2: 102,676,763 (GRCm39)	T301S	probably damaging	Het
Eepd1	G	A	9: 25,394,499 (GRCm39)	M254I	probably benign	Het
Ephb4	C	T	5: 137,359,509 (GRCm39)	R360C	probably damaging	Het
Fam149a	G	T	8: 45,808,684 (GRCm39)	Q150K	probably damaging	Het
G6pc2	G	A	2: 69,051,198 (GRCm39)	C97Y	probably damaging	Het
Gcsam	T	A	16: 45,433,401 (GRCm39)	M15K	probably benign	Het
Impdh2	C	A	9: 108,441,975 (GRCm39)	T201K	probably benign	Het
Kdm2b	C	T	5: 123,070,943 (GRCm39)	E379K	probably benign	Het
Mcm3ap	T	C	10: 76,307,000 (GRCm39)	V371A	probably benign	Het
Mink1	T	A	11: 70,497,940 (GRCm39)	N514K	possibly damaging	Het
Mmp12	C	T	9: 7,354,787 (GRCm39)	P330L	probably damaging	Het
Mroh2a	A	G	1: 88,169,353 (GRCm39)	D676G	possibly damaging	Het
Myo1a	C	T	10: 127,555,148 (GRCm39)	P838L	probably benign	Het
Naip5	T	C	13: 100,356,225 (GRCm39)	H1130R	possibly damaging	Het
Ninl	C	A	2: 150,813,044 (GRCm39)	G204V	probably benign	Het
Or12k5	C	A	2: 36,895,131 (GRCm39)	R165L	possibly damaging	Het
Or2a54	T	C	6: 43,092,880 (GRCm39)	V68A	probably benign	Het
Or4k51	T	C	2: 111,585,347 (GRCm39)	F251S	probably damaging	Het
Or5ac20	G	A	16: 59,104,228 (GRCm39)	L211F	probably benign	Het
Or5an11	T	A	19: 12,245,750 (GRCm39)	L52*	probably null	Het
Or8c15	T	C	9: 38,120,777 (GRCm39)	C141R	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pip4p2	A	T	4: 14,892,477 (GRCm39)	I114L	possibly damaging	Het
Ptpn22	G	T	3: 103,781,563 (GRCm39)	W114L	probably damaging	Het
Rasa1	C	T	13: 85,400,540 (GRCm39)		probably null	Het
Rbks	C	T	5: 31,817,341 (GRCm39)	V143I	probably benign	Het
Rbm19	T	C	5: 120,269,241 (GRCm39)	F515L	probably damaging	Het
Ror1	A	G	4: 100,298,180 (GRCm39)	T518A	probably benign	Het
Rpusd4	C	A	9: 35,184,065 (GRCm39)	A240E	probably damaging	Het
Rufy3	T	C	5: 88,780,374 (GRCm39)	L374P	probably damaging	Het
Sf3a3	T	C	4: 124,618,935 (GRCm39)	S299P	probably damaging	Het
Slc7a12	T	G	3: 14,562,414 (GRCm39)	S264A	possibly damaging	Het
Tasor	T	A	14: 27,186,217 (GRCm39)	C805*	probably null	Het
Tm9sf1	T	C	14: 55,873,782 (GRCm39)	Y572C	probably damaging	Het
Tpcn2	G	A	7: 144,813,871 (GRCm39)	S475L	probably benign	Het
Trim17	A	G	11: 58,856,018 (GRCm39)	D25G	probably damaging	Het
Ttn	T	A	2: 76,572,121 (GRCm39)	K26257N	probably damaging	Het
Txndc11	C	A	16: 10,952,414 (GRCm39)		probably benign	Het
Vmn2r58	G	A	7: 41,486,864 (GRCm39)	T677I	probably damaging	Het

Other mutations in Utrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Utrn	APN	10	12,547,574 (GRCm39)	missense	probably damaging	1.00
IGL00469:Utrn	APN	10	12,282,273 (GRCm39)	missense	probably damaging	1.00
IGL00518:Utrn	APN	10	12,542,587 (GRCm39)	splice site	probably benign
IGL00560:Utrn	APN	10	12,331,211 (GRCm39)	nonsense	probably null
IGL00589:Utrn	APN	10	12,554,362 (GRCm39)	missense	possibly damaging	0.53
IGL00662:Utrn	APN	10	12,540,705 (GRCm39)	missense	probably damaging	0.99
IGL00754:Utrn	APN	10	12,539,236 (GRCm39)	missense	probably benign	0.05
IGL00772:Utrn	APN	10	12,524,929 (GRCm39)	missense	probably benign
IGL00775:Utrn	APN	10	12,620,974 (GRCm39)	critical splice donor site	probably null
IGL00782:Utrn	APN	10	12,528,555 (GRCm39)	missense	probably benign	0.13
IGL00962:Utrn	APN	10	12,357,078 (GRCm39)	missense	possibly damaging	0.80
IGL01584:Utrn	APN	10	12,602,111 (GRCm39)	missense	probably benign	0.01
IGL01677:Utrn	APN	10	12,619,901 (GRCm39)	missense	probably damaging	1.00
IGL01695:Utrn	APN	10	12,621,086 (GRCm39)	missense	probably benign	0.00
IGL01743:Utrn	APN	10	12,587,301 (GRCm39)	missense	possibly damaging	0.94
IGL01815:Utrn	APN	10	12,528,460 (GRCm39)	missense	probably benign	0.00
IGL01901:Utrn	APN	10	12,516,672 (GRCm39)	missense	probably damaging	1.00
IGL01982:Utrn	APN	10	12,623,773 (GRCm39)	missense	probably damaging	1.00
IGL01983:Utrn	APN	10	12,545,525 (GRCm39)	missense	probably benign	0.18
IGL02031:Utrn	APN	10	12,610,948 (GRCm39)	missense	probably damaging	1.00
IGL02106:Utrn	APN	10	12,289,717 (GRCm39)	missense	possibly damaging	0.92
IGL02134:Utrn	APN	10	12,519,163 (GRCm39)	missense	probably damaging	0.99
IGL02209:Utrn	APN	10	12,559,039 (GRCm39)	missense	probably damaging	0.97
IGL02217:Utrn	APN	10	12,627,303 (GRCm39)	missense	probably damaging	1.00
IGL02250:Utrn	APN	10	12,312,135 (GRCm39)	missense	probably damaging	1.00
IGL02307:Utrn	APN	10	12,625,809 (GRCm39)	nonsense	probably null
IGL02386:Utrn	APN	10	12,297,352 (GRCm39)	missense	possibly damaging	0.91
IGL02494:Utrn	APN	10	12,585,798 (GRCm39)	missense	probably benign
IGL02631:Utrn	APN	10	12,585,807 (GRCm39)	missense	probably benign	0.00
IGL02729:Utrn	APN	10	12,596,554 (GRCm39)	unclassified	probably benign
IGL02736:Utrn	APN	10	12,297,384 (GRCm39)	missense	probably damaging	1.00
IGL02832:Utrn	APN	10	12,613,937 (GRCm39)	missense	possibly damaging	0.82
IGL02926:Utrn	APN	10	12,566,504 (GRCm39)	missense	probably damaging	0.96
IGL03184:Utrn	APN	10	12,585,910 (GRCm39)	missense	probably benign	0.04
IGL03194:Utrn	APN	10	12,282,173 (GRCm39)	splice site	probably benign
IGL03346:Utrn	APN	10	12,401,096 (GRCm39)	missense	probably benign	0.22
retiring	UTSW	10	12,516,764 (GRCm39)	missense	probably damaging	1.00
shrinking_violet	UTSW	10	12,587,329 (GRCm39)	critical splice acceptor site	probably null
Wallflower	UTSW	10	12,623,719 (GRCm39)	missense	probably damaging	1.00
FR4548:Utrn	UTSW	10	12,509,685 (GRCm39)	critical splice donor site	probably benign
I2288:Utrn	UTSW	10	12,297,384 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Utrn	UTSW	10	12,542,448 (GRCm39)	missense	probably benign	0.06
R0022:Utrn	UTSW	10	12,585,700 (GRCm39)	splice site	probably benign
R0024:Utrn	UTSW	10	12,281,755 (GRCm39)	missense	probably benign	0.00
R0024:Utrn	UTSW	10	12,281,755 (GRCm39)	missense	probably benign	0.00
R0026:Utrn	UTSW	10	12,601,940 (GRCm39)	splice site	probably benign
R0026:Utrn	UTSW	10	12,601,940 (GRCm39)	splice site	probably benign
R0091:Utrn	UTSW	10	12,610,948 (GRCm39)	missense	probably damaging	1.00
R0112:Utrn	UTSW	10	12,562,209 (GRCm39)	nonsense	probably null
R0126:Utrn	UTSW	10	12,587,219 (GRCm39)	missense	probably benign	0.02
R0184:Utrn	UTSW	10	12,543,362 (GRCm39)	missense	probably benign
R0219:Utrn	UTSW	10	12,560,195 (GRCm39)	missense	probably damaging	1.00
R0369:Utrn	UTSW	10	12,509,766 (GRCm39)	missense	probably benign	0.37
R0390:Utrn	UTSW	10	12,585,804 (GRCm39)	missense	probably benign	0.05
R0391:Utrn	UTSW	10	12,401,077 (GRCm39)	splice site	probably benign
R0408:Utrn	UTSW	10	12,259,934 (GRCm39)	makesense	probably null
R0409:Utrn	UTSW	10	12,519,345 (GRCm39)	missense	probably benign	0.01
R0441:Utrn	UTSW	10	12,564,038 (GRCm39)	missense	probably null	0.88
R0504:Utrn	UTSW	10	12,278,639 (GRCm39)	missense	probably benign	0.02
R0730:Utrn	UTSW	10	12,573,902 (GRCm39)	splice site	probably benign
R1078:Utrn	UTSW	10	12,331,310 (GRCm39)	critical splice acceptor site	probably null
R1171:Utrn	UTSW	10	12,357,052 (GRCm39)	missense	probably damaging	0.99
R1191:Utrn	UTSW	10	12,509,777 (GRCm39)	missense	probably benign	0.02
R1203:Utrn	UTSW	10	12,362,281 (GRCm39)	missense	probably damaging	1.00
R1401:Utrn	UTSW	10	12,524,897 (GRCm39)	missense	probably benign
R1418:Utrn	UTSW	10	12,589,094 (GRCm39)	missense	probably benign
R1439:Utrn	UTSW	10	12,619,793 (GRCm39)	missense	possibly damaging	0.79
R1445:Utrn	UTSW	10	12,554,318 (GRCm39)	splice site	probably benign
R1509:Utrn	UTSW	10	12,331,185 (GRCm39)	missense	possibly damaging	0.91
R1546:Utrn	UTSW	10	12,312,108 (GRCm39)	missense	probably damaging	1.00
R1585:Utrn	UTSW	10	12,312,029 (GRCm39)	missense	possibly damaging	0.62
R1621:Utrn	UTSW	10	12,589,027 (GRCm39)	missense	probably benign	0.24
R1637:Utrn	UTSW	10	12,312,108 (GRCm39)	missense	probably damaging	1.00
R1703:Utrn	UTSW	10	12,603,473 (GRCm39)	splice site	probably benign
R1725:Utrn	UTSW	10	12,539,263 (GRCm39)	missense	probably damaging	0.99
R1735:Utrn	UTSW	10	12,585,882 (GRCm39)	missense	probably benign
R1770:Utrn	UTSW	10	12,351,040 (GRCm39)	missense	probably damaging	0.98
R1778:Utrn	UTSW	10	12,312,108 (GRCm39)	missense	probably damaging	1.00
R1783:Utrn	UTSW	10	12,339,083 (GRCm39)	missense	probably damaging	1.00
R1818:Utrn	UTSW	10	12,585,708 (GRCm39)	critical splice donor site	probably null
R1829:Utrn	UTSW	10	12,351,018 (GRCm39)	missense	probably damaging	1.00
R1919:Utrn	UTSW	10	12,331,224 (GRCm39)	missense	probably benign	0.15
R1964:Utrn	UTSW	10	12,560,181 (GRCm39)	missense	probably damaging	1.00
R2080:Utrn	UTSW	10	12,612,826 (GRCm39)	missense	probably benign	0.36
R2092:Utrn	UTSW	10	12,554,442 (GRCm39)	missense	probably benign	0.12
R2107:Utrn	UTSW	10	12,312,108 (GRCm39)	missense	probably damaging	1.00
R2108:Utrn	UTSW	10	12,312,108 (GRCm39)	missense	probably damaging	1.00
R2760:Utrn	UTSW	10	12,566,622 (GRCm39)	missense	probably damaging	1.00
R2884:Utrn	UTSW	10	12,615,105 (GRCm39)	splice site	probably null
R2885:Utrn	UTSW	10	12,615,105 (GRCm39)	splice site	probably null
R2886:Utrn	UTSW	10	12,615,105 (GRCm39)	splice site	probably null
R2903:Utrn	UTSW	10	12,519,172 (GRCm39)	missense	probably damaging	1.00
R2944:Utrn	UTSW	10	12,519,163 (GRCm39)	missense	probably damaging	1.00
R2945:Utrn	UTSW	10	12,362,135 (GRCm39)	missense	possibly damaging	0.50
R3438:Utrn	UTSW	10	12,357,062 (GRCm39)	missense	probably damaging	0.98
R3683:Utrn	UTSW	10	12,542,579 (GRCm39)	missense	probably benign	0.10
R3735:Utrn	UTSW	10	12,354,228 (GRCm39)	missense	probably damaging	1.00
R3907:Utrn	UTSW	10	12,585,926 (GRCm39)	splice site	probably benign
R3923:Utrn	UTSW	10	12,615,223 (GRCm39)	missense	probably benign	0.23
R3925:Utrn	UTSW	10	12,573,786 (GRCm39)	missense	probably benign
R3926:Utrn	UTSW	10	12,573,786 (GRCm39)	missense	probably benign
R3938:Utrn	UTSW	10	12,625,774 (GRCm39)	critical splice donor site	probably null
R3941:Utrn	UTSW	10	12,587,329 (GRCm39)	critical splice acceptor site	probably null
R3958:Utrn	UTSW	10	12,625,852 (GRCm39)	missense	probably damaging	1.00
R4091:Utrn	UTSW	10	12,585,915 (GRCm39)	missense	probably benign	0.10
R4454:Utrn	UTSW	10	12,603,584 (GRCm39)	missense	possibly damaging	0.81
R4585:Utrn	UTSW	10	12,564,050 (GRCm39)	missense	probably benign	0.01
R4667:Utrn	UTSW	10	12,573,797 (GRCm39)	missense	probably benign	0.22
R4684:Utrn	UTSW	10	12,620,984 (GRCm39)	missense	probably damaging	1.00
R4782:Utrn	UTSW	10	12,625,813 (GRCm39)	missense	probably damaging	1.00
R4785:Utrn	UTSW	10	12,530,489 (GRCm39)	missense	probably benign	0.39
R4799:Utrn	UTSW	10	12,625,813 (GRCm39)	missense	probably damaging	1.00
R4829:Utrn	UTSW	10	12,539,205 (GRCm39)	missense	probably benign	0.00
R4878:Utrn	UTSW	10	12,603,502 (GRCm39)	missense	probably damaging	1.00
R4955:Utrn	UTSW	10	12,737,311 (GRCm39)	critical splice donor site	probably null
R4967:Utrn	UTSW	10	12,331,164 (GRCm39)	missense	probably damaging	0.99
R5071:Utrn	UTSW	10	12,259,948 (GRCm39)	splice site	probably null
R5072:Utrn	UTSW	10	12,259,948 (GRCm39)	splice site	probably null
R5186:Utrn	UTSW	10	12,604,521 (GRCm39)	missense	probably damaging	1.00
R5213:Utrn	UTSW	10	12,512,504 (GRCm39)	missense	probably damaging	1.00
R5296:Utrn	UTSW	10	12,277,099 (GRCm39)	missense	probably damaging	1.00
R5309:Utrn	UTSW	10	12,603,513 (GRCm39)	missense	probably damaging	1.00
R5312:Utrn	UTSW	10	12,603,513 (GRCm39)	missense	probably damaging	1.00
R5399:Utrn	UTSW	10	12,516,727 (GRCm39)	missense	probably damaging	1.00
R5407:Utrn	UTSW	10	12,556,369 (GRCm39)	missense	probably damaging	1.00
R5411:Utrn	UTSW	10	12,524,929 (GRCm39)	missense	probably benign
R5428:Utrn	UTSW	10	12,569,175 (GRCm39)	missense	probably benign	0.09
R5595:Utrn	UTSW	10	12,558,062 (GRCm39)	missense	possibly damaging	0.89
R5602:Utrn	UTSW	10	12,625,839 (GRCm39)	missense	probably damaging	1.00
R5608:Utrn	UTSW	10	12,547,581 (GRCm39)	missense	probably benign	0.00
R5678:Utrn	UTSW	10	12,317,762 (GRCm39)	missense	probably damaging	1.00
R5726:Utrn	UTSW	10	12,545,550 (GRCm39)	missense	probably benign
R5804:Utrn	UTSW	10	12,297,369 (GRCm39)	missense	probably damaging	1.00
R5916:Utrn	UTSW	10	12,540,795 (GRCm39)	missense	probably damaging	0.97
R5941:Utrn	UTSW	10	12,362,227 (GRCm39)	missense	probably damaging	1.00
R6014:Utrn	UTSW	10	12,566,620 (GRCm39)	missense	probably benign	0.01
R6015:Utrn	UTSW	10	12,354,168 (GRCm39)	missense	possibly damaging	0.85
R6028:Utrn	UTSW	10	12,530,460 (GRCm39)	missense	probably benign	0.00
R6158:Utrn	UTSW	10	12,566,566 (GRCm39)	missense	probably benign	0.04
R6181:Utrn	UTSW	10	12,615,200 (GRCm39)	missense	probably damaging	1.00
R6300:Utrn	UTSW	10	12,377,220 (GRCm39)	missense	probably benign	0.35
R6367:Utrn	UTSW	10	12,623,719 (GRCm39)	missense	probably damaging	1.00
R6377:Utrn	UTSW	10	12,619,827 (GRCm39)	missense	probably damaging	1.00
R6434:Utrn	UTSW	10	12,401,171 (GRCm39)	missense	probably damaging	1.00
R6498:Utrn	UTSW	10	12,317,837 (GRCm39)	missense	probably benign
R6579:Utrn	UTSW	10	12,623,750 (GRCm39)	missense	probably benign	0.05
R6704:Utrn	UTSW	10	12,621,035 (GRCm39)	missense	probably damaging	0.99
R6736:Utrn	UTSW	10	12,497,047 (GRCm39)	missense	probably benign	0.09
R6755:Utrn	UTSW	10	12,574,831 (GRCm39)	missense	probably benign	0.00
R6793:Utrn	UTSW	10	12,574,844 (GRCm39)	missense	possibly damaging	0.69
R6793:Utrn	UTSW	10	12,516,669 (GRCm39)	critical splice donor site	probably null
R6835:Utrn	UTSW	10	12,603,508 (GRCm39)	missense	probably damaging	1.00
R6919:Utrn	UTSW	10	12,569,214 (GRCm39)	nonsense	probably null
R6920:Utrn	UTSW	10	12,626,214 (GRCm39)	missense	probably damaging	0.98
R7037:Utrn	UTSW	10	12,702,514 (GRCm39)	splice site	probably null
R7038:Utrn	UTSW	10	12,558,082 (GRCm39)	missense	probably damaging	1.00
R7055:Utrn	UTSW	10	12,623,665 (GRCm39)	missense	probably benign	0.23
R7072:Utrn	UTSW	10	12,340,957 (GRCm39)	missense	probably damaging	1.00
R7090:Utrn	UTSW	10	12,560,260 (GRCm39)	missense	possibly damaging	0.58
R7211:Utrn	UTSW	10	12,277,079 (GRCm39)	missense	possibly damaging	0.72
R7248:Utrn	UTSW	10	12,604,562 (GRCm39)	missense	possibly damaging	0.51
R7305:Utrn	UTSW	10	12,261,280 (GRCm39)	missense	probably benign
R7334:Utrn	UTSW	10	12,603,753 (GRCm39)	splice site	probably null
R7348:Utrn	UTSW	10	12,623,762 (GRCm39)	missense	probably damaging	1.00
R7375:Utrn	UTSW	10	12,516,764 (GRCm39)	missense	probably damaging	1.00
R7436:Utrn	UTSW	10	12,315,535 (GRCm39)	missense	possibly damaging	0.72
R7476:Utrn	UTSW	10	12,516,695 (GRCm39)	missense	probably benign
R7514:Utrn	UTSW	10	12,573,833 (GRCm39)	missense	probably benign	0.00
R7527:Utrn	UTSW	10	12,277,126 (GRCm39)	missense	possibly damaging	0.81
R7735:Utrn	UTSW	10	12,619,787 (GRCm39)	critical splice donor site	probably null
R7748:Utrn	UTSW	10	12,490,252 (GRCm39)	missense	probably benign	0.01
R7778:Utrn	UTSW	10	12,362,354 (GRCm39)	missense	probably damaging	1.00
R7824:Utrn	UTSW	10	12,362,354 (GRCm39)	missense	probably damaging	1.00
R7826:Utrn	UTSW	10	12,277,050 (GRCm39)	splice site	probably null
R7872:Utrn	UTSW	10	12,573,873 (GRCm39)	missense	probably benign
R7915:Utrn	UTSW	10	12,340,956 (GRCm39)	missense	probably damaging	1.00
R7922:Utrn	UTSW	10	12,543,271 (GRCm39)	missense	possibly damaging	0.68
R8081:Utrn	UTSW	10	12,423,803 (GRCm39)	start gained	probably benign
R8132:Utrn	UTSW	10	12,558,154 (GRCm39)	missense	probably damaging	0.99
R8167:Utrn	UTSW	10	12,547,558 (GRCm39)	nonsense	probably null
R8186:Utrn	UTSW	10	12,573,867 (GRCm39)	missense	probably benign
R8331:Utrn	UTSW	10	12,490,363 (GRCm39)	missense	probably benign	0.00
R8352:Utrn	UTSW	10	12,689,253 (GRCm39)	missense	probably benign	0.34
R8408:Utrn	UTSW	10	12,545,887 (GRCm39)	missense	possibly damaging	0.69
R8452:Utrn	UTSW	10	12,689,253 (GRCm39)	missense	probably benign	0.34
R8478:Utrn	UTSW	10	12,524,892 (GRCm39)	missense	probably benign
R8489:Utrn	UTSW	10	12,587,190 (GRCm39)	missense	probably benign	0.05
R8516:Utrn	UTSW	10	12,362,254 (GRCm39)	missense	probably damaging	0.99
R8520:Utrn	UTSW	10	12,545,930 (GRCm39)	nonsense	probably null
R8550:Utrn	UTSW	10	12,689,329 (GRCm39)	intron	probably benign
R8856:Utrn	UTSW	10	12,543,351 (GRCm39)	missense	probably benign
R8881:Utrn	UTSW	10	12,423,737 (GRCm39)	missense	possibly damaging	0.46
R9180:Utrn	UTSW	10	12,545,463 (GRCm39)	missense	probably damaging	1.00
R9186:Utrn	UTSW	10	12,490,318 (GRCm39)	missense	probably benign
R9216:Utrn	UTSW	10	12,689,229 (GRCm39)	missense	probably benign	0.19
R9251:Utrn	UTSW	10	12,512,531 (GRCm39)	missense	probably benign	0.01
R9273:Utrn	UTSW	10	12,509,707 (GRCm39)	missense	probably damaging	0.97
R9307:Utrn	UTSW	10	12,554,475 (GRCm39)	missense	probably benign	0.02
R9344:Utrn	UTSW	10	12,560,275 (GRCm39)	missense	probably benign	0.17
R9419:Utrn	UTSW	10	12,564,125 (GRCm39)	missense	probably damaging	1.00
R9435:Utrn	UTSW	10	12,519,173 (GRCm39)	missense	probably damaging	1.00
R9623:Utrn	UTSW	10	12,282,225 (GRCm39)	missense	probably damaging	1.00
R9650:Utrn	UTSW	10	12,613,929 (GRCm39)	missense	probably benign	0.00
R9653:Utrn	UTSW	10	12,539,189 (GRCm39)	missense	probably benign	0.41
R9653:Utrn	UTSW	10	12,497,123 (GRCm39)	missense	probably benign	0.17
R9672:Utrn	UTSW	10	12,603,613 (GRCm39)	missense	possibly damaging	0.68
R9678:Utrn	UTSW	10	12,615,159 (GRCm39)	missense	probably benign	0.00
R9741:Utrn	UTSW	10	12,702,564 (GRCm39)	missense	probably benign
R9765:Utrn	UTSW	10	12,610,921 (GRCm39)	missense	probably damaging	0.99
R9799:Utrn	UTSW	10	12,585,736 (GRCm39)	missense	probably benign	0.01
RF009:Utrn	UTSW	10	12,509,689 (GRCm39)	nonsense	probably null
V1662:Utrn	UTSW	10	12,297,384 (GRCm39)	missense	probably damaging	1.00
X0018:Utrn	UTSW	10	12,610,942 (GRCm39)	missense	probably damaging	1.00
Z1176:Utrn	UTSW	10	12,564,173 (GRCm39)	critical splice acceptor site	probably null
Z1176:Utrn	UTSW	10	12,558,104 (GRCm39)	nonsense	probably null
Z1177:Utrn	UTSW	10	12,497,123 (GRCm39)	missense	probably benign	0.17
Z1177:Utrn	UTSW	10	12,401,150 (GRCm39)	nonsense	probably null
Z1186:Utrn	UTSW	10	12,545,491 (GRCm39)	missense	probably damaging	1.00
Z1189:Utrn	UTSW	10	12,545,491 (GRCm39)	missense	probably damaging	1.00
Z1191:Utrn	UTSW	10	12,545,491 (GRCm39)	missense	probably damaging	1.00
Z1192:Utrn	UTSW	10	12,545,491 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAACAACCTGTTCCTGTTGCCA -3'
(R):5'- GGCATACtgtaactcgtgcttgtct -3'

Sequencing Primer
(F):5'- GCCATGAGCCTTTAATACTCCG -3'
(R):5'- gccttaaactcagccatcctc -3'

Posted On

2014-03-14