Mutagenetix > Incidental Mutation

Incidental Mutation 'R1888:Sntb1'

211930

Institutional Source

Beutler Lab

Gene Symbol

Sntb1

Ensembl Gene

ENSMUSG00000060429

Gene Name

syntrophin, basic 1

Synonyms

beta1-Syntrophin, 59-1 DAP

MMRRC Submission

039909-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R1888 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55499784-55770345 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 55612745 bp (GRCm39)

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
4930447C04Rik	A	G	12: 72,960,030 (GRCm39)	M80T	unknown	Het
4930578I06Rik	A	G	14: 64,223,632 (GRCm39)	L48P	probably damaging	Het
Abcc9	A	G	6: 142,625,040 (GRCm39)	S452P	probably benign	Het
Adgrb2	T	C	4: 129,907,419 (GRCm39)	F977S	probably damaging	Het
Adgrf5	T	G	17: 43,737,896 (GRCm39)		probably null	Het
Adgrl4	A	G	3: 151,144,914 (GRCm39)	N21S	probably benign	Het
Adss2	A	T	1: 177,612,517 (GRCm39)	Y77*	probably null	Het
Ahnak	A	T	19: 8,984,452 (GRCm39)	D1912V	probably damaging	Het
Ahnak2	A	G	12: 112,740,325 (GRCm39)	M1249T	possibly damaging	Het
Akap6	A	T	12: 53,188,958 (GRCm39)	D2124V	possibly damaging	Het
Bbs12	C	A	3: 37,374,712 (GRCm39)	L387I	probably damaging	Het
Ciita	T	C	16: 10,328,948 (GRCm39)	Y411H	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,636,079 (GRCm39)		probably benign	Het
Clec9a	G	A	6: 129,387,249 (GRCm39)	V35I	probably benign	Het
Cntn5	T	A	9: 9,984,082 (GRCm39)	Q382L	possibly damaging	Het
Cracdl	T	C	1: 37,663,364 (GRCm39)	K845E	possibly damaging	Het
Dock2	A	T	11: 34,598,169 (GRCm39)	I334N	probably damaging	Het
Dock9	G	T	14: 121,862,617 (GRCm39)	T833K	probably benign	Het
Drd2	G	A	9: 49,313,442 (GRCm39)	V204I	probably benign	Het
Fam120a	A	T	13: 49,039,342 (GRCm39)	I938N	possibly damaging	Het
Fndc1	T	C	17: 7,990,621 (GRCm39)	E1025G	unknown	Het
Fsip2	G	A	2: 82,774,504 (GRCm39)	D64N	probably benign	Het
Gm14496	T	A	2: 181,641,989 (GRCm39)	C553*	probably null	Het
Gm6020	C	T	19: 61,172,391 (GRCm39)	H22Y	possibly damaging	Het
Hexa	A	G	9: 59,464,586 (GRCm39)	T159A	probably benign	Het
Hmcn1	C	G	1: 150,695,251 (GRCm39)	A218P	possibly damaging	Het
Hpgds	A	G	6: 65,115,217 (GRCm39)	F22S	probably damaging	Het
Il5ra	T	A	6: 106,708,874 (GRCm39)	N289Y	probably damaging	Het
Irf2	A	T	8: 47,260,388 (GRCm39)	R107*	probably null	Het
Kcnk6	T	C	7: 28,925,075 (GRCm39)	I180M	probably benign	Het
Krtap5-3	G	A	7: 141,755,979 (GRCm39)		probably benign	Het
Lrig1	C	T	6: 94,631,859 (GRCm39)	A114T	probably benign	Het
Lrrc37a	A	G	11: 103,389,587 (GRCm39)	V1946A	probably benign	Het
Lrrc8b	T	C	5: 105,629,217 (GRCm39)	V521A	probably benign	Het
Macf1	T	G	4: 123,348,835 (GRCm39)	I2154L	possibly damaging	Het
Macf1	C	A	4: 123,368,505 (GRCm39)	E2085D	probably benign	Het
Maml1	C	T	11: 50,157,468 (GRCm39)	A236T	probably benign	Het
Mdc1	C	A	17: 36,165,117 (GRCm39)	T1481K	probably benign	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Mfap3l	T	C	8: 61,124,424 (GRCm39)	V222A	possibly damaging	Het
Mis18bp1	A	G	12: 65,196,102 (GRCm39)	I554T	probably benign	Het
Mpped2	T	C	2: 106,529,790 (GRCm39)	I13T	probably benign	Het
Mthfd1l	C	A	10: 4,056,528 (GRCm39)	T948K	probably damaging	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mtx3	A	G	13: 92,984,191 (GRCm39)	E156G	probably benign	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Myh2	G	A	11: 67,071,676 (GRCm39)	V498M	probably damaging	Het
Myo15b	G	A	11: 115,777,899 (GRCm39)	G1049S	probably damaging	Het
Myo1b	T	A	1: 51,799,562 (GRCm39)		probably null	Het
Ndufa2	T	A	18: 36,877,573 (GRCm39)		probably benign	Het
Nipal2	T	C	15: 34,625,167 (GRCm39)	I129M	possibly damaging	Het
Nt5dc3	A	G	10: 86,669,926 (GRCm39)	N507S	possibly damaging	Het
Or4b12	A	G	2: 90,095,913 (GRCm39)	L287P	probably damaging	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Pcdhb17	G	A	18: 37,620,438 (GRCm39)		probably null	Het
Pcyt2	A	G	11: 120,508,677 (GRCm39)	M1T	probably null	Het
Pla2g2d	T	C	4: 138,503,126 (GRCm39)	M1T	probably null	Het
Plekhg6	T	C	6: 125,340,306 (GRCm39)	T685A	probably damaging	Het
Pramel19	T	A	4: 101,798,335 (GRCm39)	V102E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Pxk	T	C	14: 8,151,540 (GRCm38)	S452P	probably damaging	Het
Rab42	A	T	4: 132,030,529 (GRCm39)	D40E	probably benign	Het
Rapgef6	A	C	11: 54,551,654 (GRCm39)	T836P	probably damaging	Het
Serpina3a	A	G	12: 104,082,362 (GRCm39)	D45G	probably benign	Het
Spice1	T	G	16: 44,185,989 (GRCm39)	S111A	probably damaging	Het
Stk40	T	A	4: 126,019,538 (GRCm39)	L90Q	probably damaging	Het
Syk	A	G	13: 52,794,826 (GRCm39)	Y520C	probably damaging	Het
Syngr2	G	A	11: 117,704,224 (GRCm39)	V170M	possibly damaging	Het
Tcf12	A	T	9: 71,765,816 (GRCm39)	D541E	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tlr4	T	C	4: 66,759,409 (GRCm39)	V734A	probably damaging	Het
Tmem132a	T	C	19: 10,840,863 (GRCm39)	E389G	probably damaging	Het
Tmem150b	A	G	7: 4,712,044 (GRCm39)	I112T	probably benign	Het
Tril	A	G	6: 53,796,577 (GRCm39)	L215P	probably damaging	Het
Trim24	G	T	6: 37,934,013 (GRCm39)	R652L	probably damaging	Het
Ttn	G	A	2: 76,623,151 (GRCm39)	P15429S	probably damaging	Het
Ttn	T	A	2: 76,706,302 (GRCm39)		probably benign	Het
Tubgcp2	A	G	7: 139,579,183 (GRCm39)	V701A	probably damaging	Het
Tubgcp2	A	G	7: 139,586,069 (GRCm39)	F407L	probably damaging	Het
Vmn1r30	A	C	6: 58,412,475 (GRCm39)	L119R	possibly damaging	Het
Washc5	A	C	15: 59,231,174 (GRCm39)	L363R	probably damaging	Het
Zan	T	C	5: 137,387,590 (GRCm39)	T4874A	unknown	Het
Zfp420	A	T	7: 29,573,933 (GRCm39)	H51L	probably damaging	Het
Zfp512b	C	A	2: 181,230,235 (GRCm39)	R497L	probably damaging	Het
Zmat4	A	G	8: 24,505,177 (GRCm39)	N139S	probably damaging	Het
Zng1	A	T	19: 24,932,769 (GRCm39)	V88D	probably damaging	Het

Other mutations in Sntb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02056:Sntb1	APN	15	55,511,435 (GRCm39)	missense	possibly damaging	0.93
IGL02732:Sntb1	APN	15	55,655,596 (GRCm39)	missense	possibly damaging	0.62
IGL02965:Sntb1	APN	15	55,506,081 (GRCm39)	nonsense	probably null
IGL03084:Sntb1	APN	15	55,655,487 (GRCm39)	missense	probably damaging	0.99
IGL03286:Sntb1	APN	15	55,655,442 (GRCm39)	missense	possibly damaging	0.59
R0117:Sntb1	UTSW	15	55,769,749 (GRCm39)	missense	probably benign
R0178:Sntb1	UTSW	15	55,769,540 (GRCm39)	missense	probably damaging	0.98
R0465:Sntb1	UTSW	15	55,612,672 (GRCm39)	missense	probably benign	0.02
R0626:Sntb1	UTSW	15	55,506,179 (GRCm39)	missense	probably benign	0.20
R0726:Sntb1	UTSW	15	55,539,752 (GRCm39)	missense	probably benign
R1125:Sntb1	UTSW	15	55,612,676 (GRCm39)	missense	probably benign
R1443:Sntb1	UTSW	15	55,511,351 (GRCm39)	missense	probably damaging	1.00
R1888:Sntb1	UTSW	15	55,612,745 (GRCm39)	nonsense	probably null
R2208:Sntb1	UTSW	15	55,769,714 (GRCm39)	missense	possibly damaging	0.79
R2426:Sntb1	UTSW	15	55,769,575 (GRCm39)	missense	probably damaging	1.00
R3721:Sntb1	UTSW	15	55,506,214 (GRCm39)	missense	probably benign	0.10
R4370:Sntb1	UTSW	15	55,655,487 (GRCm39)	missense	probably damaging	0.99
R4706:Sntb1	UTSW	15	55,612,670 (GRCm39)	missense	probably benign	0.09
R4883:Sntb1	UTSW	15	55,506,198 (GRCm39)	nonsense	probably null
R5223:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5242:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5270:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5313:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5314:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5316:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5336:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5337:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5396:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5398:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5427:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5428:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5429:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5431:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5594:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5658:Sntb1	UTSW	15	55,655,472 (GRCm39)	missense	probably damaging	1.00
R5665:Sntb1	UTSW	15	55,655,535 (GRCm39)	missense	probably benign	0.00
R6147:Sntb1	UTSW	15	55,511,406 (GRCm39)	missense	probably benign
R6159:Sntb1	UTSW	15	55,539,698 (GRCm39)	critical splice donor site	probably null
R6883:Sntb1	UTSW	15	55,769,719 (GRCm39)	missense	probably benign	0.38
R7008:Sntb1	UTSW	15	55,655,468 (GRCm39)	nonsense	probably null
R7168:Sntb1	UTSW	15	55,654,661 (GRCm39)	missense	probably benign	0.00
R7511:Sntb1	UTSW	15	55,511,347 (GRCm39)	missense	possibly damaging	0.71
R7600:Sntb1	UTSW	15	55,655,584 (GRCm39)	missense	possibly damaging	0.82
R8242:Sntb1	UTSW	15	55,655,629 (GRCm39)	missense	possibly damaging	0.95
R8804:Sntb1	UTSW	15	55,655,523 (GRCm39)	missense	probably benign	0.37
R9280:Sntb1	UTSW	15	55,769,771 (GRCm39)	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