Mutagenetix > Incidental Mutation

Incidental Mutation 'R8804:Sntb1'

671949

Institutional Source

Beutler Lab

Gene Symbol

Sntb1

Ensembl Gene

ENSMUSG00000060429

Gene Name

syntrophin, basic 1

Synonyms

59-1 DAP, beta1-Syntrophin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55636388-55906949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55792127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 231 (S231F)

Ref Sequence

ENSEMBL: ENSMUSP00000041294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039769] [ENSMUST00000110200]

AlphaFold

Q99L88

Predicted Effect

probably benign
Transcript: ENSMUST00000039769
AA Change: S231F

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041294
Gene: ENSMUSG00000060429
AA Change: S231F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110200
AA Change: S231F

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105829
Gene: ENSMUSG00000060429
AA Change: S231F

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
PDZ	120	194	4.5e-17	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,628,656		probably benign	Het
Adamts1	A	G	16: 85,802,412	F100S	probably damaging	Het
Adamts5	A	G	16: 85,869,912		probably benign	Het
Adgrb2	T	A	4: 130,005,419	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,847,016	V617E	probably damaging	Het
Akt1	T	C	12: 112,658,607	E169G	probably damaging	Het
Arhgap40	A	G	2: 158,547,706	T600A	probably benign	Het
B4galt3	C	T	1: 171,276,374	H395Y	probably benign	Het
BC024139	T	G	15: 76,124,084	T376P	possibly damaging	Het
Bin3	A	G	14: 70,123,847	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,806	I480N	probably damaging	Het
Camsap3	A	G	8: 3,602,624	T401A	probably benign	Het
Cdhr5	T	C	7: 141,269,407	T747A	probably benign	Het
Chn2	A	G	6: 54,273,076	I193V	probably benign	Het
Clca3b	T	C	3: 144,839,137	N363S	probably benign	Het
Clec7a	T	C	6: 129,465,555	T125A	probably benign	Het
Cys1	A	T	12: 24,668,611	L81Q	unknown	Het
Dcbld2	G	A	16: 58,461,049		probably benign	Het
Ddx60	T	A	8: 61,958,606	D497E	probably benign	Het
Dnah2	T	C	11: 69,465,685	I2117V	probably benign	Het
Dnah6	G	A	6: 73,065,773	S3274F	probably benign	Het
Dock9	A	T	14: 121,605,183	I1225N	probably damaging	Het
Egfr	A	G	11: 16,869,339	T290A	probably benign	Het
Elmod2	T	A	8: 83,319,521	K142N	probably benign	Het
Ephx2	T	C	14: 66,087,020	T441A	probably benign	Het
Fam234a	A	G	17: 26,216,557		probably benign	Het
Fer1l4	C	A	2: 156,051,994	E102D	probably benign	Het
Fermt3	A	G	19: 7,014,326		probably benign	Het
Fgd5	C	T	6: 91,987,526	R247C	probably benign	Het
Gm14443	G	A	2: 175,169,859	H265Y	probably damaging	Het
Gm8251	T	C	1: 44,056,649	N1763S	probably benign	Het
Gykl1	A	G	18: 52,694,536	D272G	probably benign	Het
Hip1r	T	C	5: 124,001,512	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,425,381	N3714S	probably benign	Het
Hrasls	T	A	16: 29,220,453	V95E	probably benign	Het
Ighv1-36	G	T	12: 114,879,961	T93K	probably benign	Het
Igsf10	T	G	3: 59,336,455	T153P	probably damaging	Het
Kif13b	T	C	14: 64,750,342	C773R	probably damaging	Het
Lipf	T	A	19: 33,964,798	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,264,904	D90G	probably damaging	Het
Msh5	A	T	17: 35,032,854	I410K	probably benign	Het
Mylk3	T	C	8: 85,359,245	D220G	probably benign	Het
Ncdn	G	A	4: 126,750,105	A308V	probably benign	Het
Nfu1	T	A	6: 87,016,432		probably benign	Het
Nup153	A	G	13: 46,687,159	V991A	probably benign	Het
Nup188	T	A	2: 30,330,879	H960Q	probably benign	Het
Parp4	G	T	14: 56,616,443	E839*	probably null	Het
Pfas	T	C	11: 68,991,082	N30D		Het
Pitpnc1	T	A	11: 107,212,605	N223Y	probably damaging	Het
Plod1	C	T	4: 147,913,321	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,880,470	T548A	unknown	Het
Psg20	A	T	7: 18,682,659	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,200,251	I173N	probably damaging	Het
Rimkla	G	A	4: 119,468,076	Q379*	probably null	Het
Rnasel	G	T	1: 153,753,915	G59V	probably damaging	Het
Rptn	A	T	3: 93,395,843	D161V	probably damaging	Het
Scrt1	C	A	15: 76,519,211	C193F	unknown	Het
Sdk2	G	T	11: 113,873,152	Y269*	probably null	Het
Sfxn2	G	C	19: 46,585,804		probably benign	Het
Slc17a4	G	T	13: 23,903,262	T264K	probably benign	Het
Slfn8	T	A	11: 83,016,813	Q301H	possibly damaging	Het
Spag17	T	A	3: 99,967,190	S137T	probably benign	Het
Srd5a2	A	T	17: 74,047,634	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,535,256	H967R	probably benign	Het
Sun1	A	G	5: 139,231,165	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,692,963	L15P	probably benign	Het
Tas2r140	T	A	6: 133,055,363	N144I	probably damaging	Het
Thpo	T	A	16: 20,725,957	R174S	probably damaging	Het
Tnik	A	T	3: 28,594,053	Q418L	unknown	Het
Tnr	A	T	1: 159,858,312	Q371L	probably benign	Het
Tulp2	G	A	7: 45,520,974	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,235,324	W29L	probably damaging	Het
Vrk3	T	A	7: 44,757,846	C80*	probably null	Het
Washc4	T	C	10: 83,572,151	L540P	probably damaging	Het
Wscd1	T	C	11: 71,784,335	F356S	probably damaging	Het
Wwc1	A	T	11: 35,883,317	M372K	probably benign	Het
Zfhx2	A	G	14: 55,074,734	F168L	probably benign	Het
Zfp28	A	G	7: 6,390,400	D175G	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
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
R9280:Sntb1	UTSW	15	55906375	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGACCTTTCATTCTATTCATGAGATC -3'
(R):5'- ACATTGTATGCTGTACCACATATTG -3'

Sequencing Primer
(F):5'- CATGAGATCCATGGAGTCTTTTCAG -3'
(R):5'- TTGGTATTCCTAAAAAGTGGTATTCC -3'

Posted On

2021-04-30