Mutagenetix > Incidental Mutation

Incidental Mutation 'R1888:Sntb1'

211930

Institutional Source

Beutler Lab

Gene Symbol

Sntb1

Ensembl Gene

ENSMUSG00000060429

Gene Name

syntrophin, basic 1

Synonyms

59-1 DAP, beta1-Syntrophin

MMRRC Submission

039909-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R1888 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55636388-55906949 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 55749349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 278 (R278*)

Ref Sequence

ENSEMBL: ENSMUSP00000041294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039769]

AlphaFold

Q99L88

Predicted Effect

probably null
Transcript: ENSMUST00000039769
AA Change: R278*

SMART Domains

Protein: ENSMUSP00000041294
Gene: ENSMUSG00000060429
AA Change: R278*

Domain	Start	End	E-Value	Type
PH	19	299	5.14e0	SMART
PDZ	120	194	4.5e-17	SMART
PH	322	434	2.81e-8	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,624,283	K845E	possibly damaging	Het
4930447C04Rik	A	G	12: 72,913,256	M80T	unknown	Het
4930578I06Rik	A	G	14: 63,986,183	L48P	probably damaging	Het
Abcc9	A	G	6: 142,679,314	S452P	probably benign	Het
Adgrb2	T	C	4: 130,013,626	F977S	probably damaging	Het
Adgrf5	T	G	17: 43,427,005		probably null	Het
Adgrl4	A	G	3: 151,439,277	N21S	probably benign	Het
Adss	A	T	1: 177,784,951	Y77*	probably null	Het
Ahnak	A	T	19: 9,007,088	D1912V	probably damaging	Het
Ahnak2	A	G	12: 112,773,891	M1249T	possibly damaging	Het
Akap6	A	T	12: 53,142,175	D2124V	possibly damaging	Het
Bbs12	C	A	3: 37,320,563	L387I	probably damaging	Het
Cbwd1	A	T	19: 24,955,405	V88D	probably damaging	Het
Ciita	T	C	16: 10,511,084	Y411H	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,669,645		probably benign	Het
Clec9a	G	A	6: 129,410,286	V35I	probably benign	Het
Cntn5	T	A	9: 9,984,077	Q382L	possibly damaging	Het
Dock2	A	T	11: 34,707,342	I334N	probably damaging	Het
Dock9	G	T	14: 121,625,205	T833K	probably benign	Het
Drd2	G	A	9: 49,402,142	V204I	probably benign	Het
Fam120a	A	T	13: 48,885,866	I938N	possibly damaging	Het
Fndc1	T	C	17: 7,771,789	E1025G	unknown	Het
Fsip2	G	A	2: 82,944,160	D64N	probably benign	Het
Gm12794	T	A	4: 101,941,138	V102E	probably damaging	Het
Gm14496	T	A	2: 182,000,196	C553*	probably null	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm6020	C	T	19: 61,183,953	H22Y	possibly damaging	Het
Hexa	A	G	9: 59,557,303	T159A	probably benign	Het
Hmcn1	C	G	1: 150,819,500	A218P	possibly damaging	Het
Hpgds	A	G	6: 65,138,233	F22S	probably damaging	Het
Il5ra	T	A	6: 106,731,913	N289Y	probably damaging	Het
Irf2	A	T	8: 46,807,353	R107*	probably null	Het
Kcnk6	T	C	7: 29,225,650	I180M	probably benign	Het
Krtap5-3	G	A	7: 142,202,242		probably benign	Het
Lrig1	C	T	6: 94,654,878	A114T	probably benign	Het
Lrrc37a	A	G	11: 103,498,761	V1946A	probably benign	Het
Lrrc8b	T	C	5: 105,481,351	V521A	probably benign	Het
Macf1	T	G	4: 123,455,042	I2154L	possibly damaging	Het
Macf1	C	A	4: 123,474,712	E2085D	probably benign	Het
Maml1	C	T	11: 50,266,641	A236T	probably benign	Het
Mdc1	C	A	17: 35,854,225	T1481K	probably benign	Het
Mecp2	C	T	X: 74,037,175	A79T	probably damaging	Het
Mfap3l	T	C	8: 60,671,390	V222A	possibly damaging	Het
Mis18bp1	A	G	12: 65,149,328	I554T	probably benign	Het
Mpped2	T	C	2: 106,699,445	I13T	probably benign	Het
Mthfd1l	C	A	10: 4,106,528	T948K	probably damaging	Het
Mtus1	C	T	8: 41,084,325	S118N	probably damaging	Het
Mtx3	A	G	13: 92,847,683	E156G	probably benign	Het
Mybbp1a	C	T	11: 72,446,037	T565I	probably benign	Het
Myh2	G	A	11: 67,180,850	V498M	probably damaging	Het
Myo15b	G	A	11: 115,887,073	G1049S	probably damaging	Het
Myo1b	T	A	1: 51,760,403		probably null	Het
Ndufa2	T	A	18: 36,744,520		probably benign	Het
Nipal2	T	C	15: 34,625,021	I129M	possibly damaging	Het
Nt5dc3	A	G	10: 86,834,062	N507S	possibly damaging	Het
Olfr1271	A	G	2: 90,265,569	L287P	probably damaging	Het
Olfr875	T	A	9: 37,772,867	D69E	possibly damaging	Het
Pcdhb17	G	A	18: 37,487,385		probably null	Het
Pcyt2	A	G	11: 120,617,851	M1T	probably null	Het
Pla2g2d	T	C	4: 138,775,815	M1T	probably null	Het
Plekhg6	T	C	6: 125,363,343	T685A	probably damaging	Het
Pxk	T	C	14: 8,151,540	S452P	probably damaging	Het
Rab42	A	T	4: 132,303,218	D40E	probably benign	Het
Rapgef6	A	C	11: 54,660,828	T836P	probably damaging	Het
Serpina3a	A	G	12: 104,116,103	D45G	probably benign	Het
Spice1	T	G	16: 44,365,626	S111A	probably damaging	Het
Stk40	T	A	4: 126,125,745	L90Q	probably damaging	Het
Syk	A	G	13: 52,640,790	Y520C	probably damaging	Het
Syngr2	G	A	11: 117,813,398	V170M	possibly damaging	Het
Tcf12	A	T	9: 71,858,534	D541E	possibly damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tlr4	T	C	4: 66,841,172	V734A	probably damaging	Het
Tmem132a	T	C	19: 10,863,499	E389G	probably damaging	Het
Tmem150b	A	G	7: 4,709,045	I112T	probably benign	Het
Tril	A	G	6: 53,819,592	L215P	probably damaging	Het
Trim24	G	T	6: 37,957,078	R652L	probably damaging	Het
Ttn	T	A	2: 76,875,958		probably benign	Het
Ttn	G	A	2: 76,792,807	P15429S	probably damaging	Het
Tubgcp2	A	G	7: 139,999,270	V701A	probably damaging	Het
Tubgcp2	A	G	7: 140,006,156	F407L	probably damaging	Het
Vmn1r30	A	C	6: 58,435,490	L119R	possibly damaging	Het
Washc5	A	C	15: 59,359,325	L363R	probably damaging	Het
Zan	T	C	5: 137,389,328	T4874A	unknown	Het
Zfp420	A	T	7: 29,874,508	H51L	probably damaging	Het
Zfp512b	C	A	2: 181,588,442	R497L	probably damaging	Het
Zmat4	A	G	8: 24,015,161	N139S	probably damaging	Het

Other mutations in Sntb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02056:Sntb1	APN	15	55648039	missense	possibly damaging	0.93
IGL02732:Sntb1	APN	15	55792200	missense	possibly damaging	0.62
IGL02965:Sntb1	APN	15	55642685	nonsense	probably null
IGL03084:Sntb1	APN	15	55792091	missense	probably damaging	0.99
IGL03286:Sntb1	APN	15	55792046	missense	possibly damaging	0.59
R0117:Sntb1	UTSW	15	55906353	missense	probably benign
R0178:Sntb1	UTSW	15	55906144	missense	probably damaging	0.98
R0465:Sntb1	UTSW	15	55749276	missense	probably benign	0.02
R0626:Sntb1	UTSW	15	55642783	missense	probably benign	0.20
R0726:Sntb1	UTSW	15	55676356	missense	probably benign
R1125:Sntb1	UTSW	15	55749280	missense	probably benign
R1443:Sntb1	UTSW	15	55647955	missense	probably damaging	1.00
R1888:Sntb1	UTSW	15	55749349	nonsense	probably null
R2208:Sntb1	UTSW	15	55906318	missense	possibly damaging	0.79
R2426:Sntb1	UTSW	15	55906179	missense	probably damaging	1.00
R3721:Sntb1	UTSW	15	55642818	missense	probably benign	0.10
R4370:Sntb1	UTSW	15	55792091	missense	probably damaging	0.99
R4706:Sntb1	UTSW	15	55749274	missense	probably benign	0.09
R4883:Sntb1	UTSW	15	55642802	nonsense	probably null
R5223:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5242:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5270:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5313:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5314:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5316:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5336:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5337:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5396:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5398:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5427:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5428:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5429:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5431:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5594:Sntb1	UTSW	15	55642795	missense	probably damaging	1.00
R5658:Sntb1	UTSW	15	55792076	missense	probably damaging	1.00
R5665:Sntb1	UTSW	15	55792139	missense	probably benign	0.00
R6147:Sntb1	UTSW	15	55648010	missense	probably benign
R6159:Sntb1	UTSW	15	55676302	critical splice donor site	probably null
R6883:Sntb1	UTSW	15	55906323	missense	probably benign	0.38
R7008:Sntb1	UTSW	15	55792072	nonsense	probably null
R7168:Sntb1	UTSW	15	55791265	missense	probably benign	0.00
R7511:Sntb1	UTSW	15	55647951	missense	possibly damaging	0.71
R7600:Sntb1	UTSW	15	55792188	missense	possibly damaging	0.82
R8242:Sntb1	UTSW	15	55792233	missense	possibly damaging	0.95
R8804:Sntb1	UTSW	15	55792127	missense	probably benign	0.37
R9280:Sntb1	UTSW	15	55906375	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGCAATTGACAGGAAGACTTTC -3'
(R):5'- AAGAGCCTGGGCAACTGATG -3'

Sequencing Primer
(F):5'- CAATTGACAGGAAGACTTTCTCTTAC -3'
(R):5'- CCTGGGCAACTGATGATTGAATAAG -3'

Posted On

2014-06-30