Mutagenetix > Incidental Mutation

Incidental Mutation 'R8804:Sntb1'

671949

Institutional Source

Beutler Lab

Gene Symbol

Sntb1

Ensembl Gene

ENSMUSG00000060429

Gene Name

syntrophin, basic 1

Synonyms

beta1-Syntrophin, 59-1 DAP

MMRRC Submission

068641-MU

Accession Numbers

Essential gene?

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

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55499784-55770345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55655523 bp (GRCm39)

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: 19,682,820 (GRCm39)		probably benign	Het
Adamts1	A	G	16: 85,599,300 (GRCm39)	F100S	probably damaging	Het
Adamts5	A	G	16: 85,666,800 (GRCm39)		probably benign	Het
Adgrb2	T	A	4: 129,899,212 (GRCm39)	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,552,652 (GRCm39)	V617E	probably damaging	Het
Akt1	T	C	12: 112,625,041 (GRCm39)	E169G	probably damaging	Het
Arhgap40	A	G	2: 158,389,626 (GRCm39)	T600A	probably benign	Het
B4galt3	C	T	1: 171,103,947 (GRCm39)	H395Y	probably benign	Het
BC024139	T	G	15: 76,008,284 (GRCm39)	T376P	possibly damaging	Het
Bin3	A	G	14: 70,361,296 (GRCm39)	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,805 (GRCm39)	I480N	probably damaging	Het
Camsap3	A	G	8: 3,652,624 (GRCm39)	T401A	probably benign	Het
Ccdc168	T	C	1: 44,095,809 (GRCm39)	N1763S	probably benign	Het
Cdhr5	T	C	7: 140,849,320 (GRCm39)	T747A	probably benign	Het
Chn2	A	G	6: 54,250,061 (GRCm39)	I193V	probably benign	Het
Clca3b	T	C	3: 144,544,898 (GRCm39)	N363S	probably benign	Het
Clec7a	T	C	6: 129,442,518 (GRCm39)	T125A	probably benign	Het
Cys1	A	T	12: 24,718,610 (GRCm39)	L81Q	unknown	Het
Dcbld2	G	A	16: 58,281,412 (GRCm39)		probably benign	Het
Ddx60	T	A	8: 62,411,640 (GRCm39)	D497E	probably benign	Het
Dnah2	T	C	11: 69,356,511 (GRCm39)	I2117V	probably benign	Het
Dnah6	G	A	6: 73,042,756 (GRCm39)	S3274F	probably benign	Het
Dock9	A	T	14: 121,842,595 (GRCm39)	I1225N	probably damaging	Het
Egfr	A	G	11: 16,819,339 (GRCm39)	T290A	probably benign	Het
Elmod2	T	A	8: 84,046,150 (GRCm39)	K142N	probably benign	Het
Ephx2	T	C	14: 66,324,469 (GRCm39)	T441A	probably benign	Het
Fam234a	A	G	17: 26,435,531 (GRCm39)		probably benign	Het
Fer1l4	C	A	2: 155,893,914 (GRCm39)	E102D	probably benign	Het
Fermt3	A	G	19: 6,991,694 (GRCm39)		probably benign	Het
Fgd5	C	T	6: 91,964,507 (GRCm39)	R247C	probably benign	Het
Gm14443	G	A	2: 175,011,652 (GRCm39)	H265Y	probably damaging	Het
Gykl1	A	G	18: 52,827,608 (GRCm39)	D272G	probably benign	Het
Hip1r	T	C	5: 124,139,575 (GRCm39)	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Ighv1-36	G	T	12: 114,843,581 (GRCm39)	T93K	probably benign	Het
Igsf10	T	G	3: 59,243,876 (GRCm39)	T153P	probably damaging	Het
Kif13b	T	C	14: 64,987,791 (GRCm39)	C773R	probably damaging	Het
Lipf	T	A	19: 33,942,198 (GRCm39)	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,093,972 (GRCm39)	D90G	probably damaging	Het
Msh5	A	T	17: 35,251,830 (GRCm39)	I410K	probably benign	Het
Mylk3	T	C	8: 86,085,874 (GRCm39)	D220G	probably benign	Het
Ncdn	G	A	4: 126,643,898 (GRCm39)	A308V	probably benign	Het
Nfu1	T	A	6: 86,993,414 (GRCm39)		probably benign	Het
Nup153	A	G	13: 46,840,635 (GRCm39)	V991A	probably benign	Het
Nup188	T	A	2: 30,220,891 (GRCm39)	H960Q	probably benign	Het
Parp4	G	T	14: 56,853,900 (GRCm39)	E839*	probably null	Het
Pfas	T	C	11: 68,881,908 (GRCm39)	N30D		Het
Pitpnc1	T	A	11: 107,103,431 (GRCm39)	N223Y	probably damaging	Het
Plaat1	T	A	16: 29,039,205 (GRCm39)	V95E	probably benign	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,708,039 (GRCm39)	T548A	unknown	Het
Psg20	A	T	7: 18,416,584 (GRCm39)	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,419,225 (GRCm39)	I173N	probably damaging	Het
Rimkla	G	A	4: 119,325,273 (GRCm39)	Q379*	probably null	Het
Rnasel	G	T	1: 153,629,661 (GRCm39)	G59V	probably damaging	Het
Rptn	A	T	3: 93,303,150 (GRCm39)	D161V	probably damaging	Het
Scrt1	C	A	15: 76,403,411 (GRCm39)	C193F	unknown	Het
Sdk2	G	T	11: 113,763,978 (GRCm39)	Y269*	probably null	Het
Sfxn2	G	C	19: 46,574,243 (GRCm39)		probably benign	Het
Slc17a4	G	T	13: 24,087,245 (GRCm39)	T264K	probably benign	Het
Slfn8	T	A	11: 82,907,639 (GRCm39)	Q301H	possibly damaging	Het
Spag17	T	A	3: 99,874,506 (GRCm39)	S137T	probably benign	Het
Srd5a2	A	T	17: 74,354,629 (GRCm39)	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,511,900 (GRCm39)	H967R	probably benign	Het
Sun1	A	G	5: 139,216,920 (GRCm39)	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043 (GRCm39)	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,294,693 (GRCm39)	L15P	probably benign	Het
Tas2r140	T	A	6: 133,032,326 (GRCm39)	N144I	probably damaging	Het
Thpo	T	A	16: 20,544,707 (GRCm39)	R174S	probably damaging	Het
Tnik	A	T	3: 28,648,202 (GRCm39)	Q418L	unknown	Het
Tnr	A	T	1: 159,685,882 (GRCm39)	Q371L	probably benign	Het
Tulp2	G	A	7: 45,170,398 (GRCm39)	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,142,606 (GRCm39)	W29L	probably damaging	Het
Vrk3	T	A	7: 44,407,270 (GRCm39)	C80*	probably null	Het
Washc4	T	C	10: 83,408,015 (GRCm39)	L540P	probably damaging	Het
Wscd1	T	C	11: 71,675,161 (GRCm39)	F356S	probably damaging	Het
Wwc1	A	T	11: 35,774,144 (GRCm39)	M372K	probably benign	Het
Zfhx2	A	G	14: 55,312,191 (GRCm39)	F168L	probably benign	Het
Zfp28	A	G	7: 6,393,399 (GRCm39)	D175G	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
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
R9280:Sntb1	UTSW	15	55,769,771 (GRCm39)	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