Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Sntb1'

250245

Institutional Source

Beutler Lab

Gene Symbol

Sntb1

Ensembl Gene

ENSMUSG00000060429

Gene Name

syntrophin, basic 1

Synonyms

beta1-Syntrophin, 59-1 DAP

MMRRC Submission

040388-MU

Accession Numbers

Essential gene?

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

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55499784-55770345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55769575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 138 (I138N)

Ref Sequence

ENSEMBL: ENSMUSP00000105829 (fasta)

Gene Model

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

AlphaFold

Q99L88

Predicted Effect

probably damaging
Transcript: ENSMUST00000039769
AA Change: I138N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041294
Gene: ENSMUSG00000060429
AA Change: I138N

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

probably damaging
Transcript: ENSMUST00000110200
AA Change: I138N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105829
Gene: ENSMUSG00000060429
AA Change: I138N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140574

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,882,446 (GRCm39)	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,075,025 (GRCm39)	V131I	probably benign	Het
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,071,650 (GRCm39)	V324A	probably damaging	Het
Ahnak	A	T	19: 8,980,215 (GRCm39)	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,575,266 (GRCm39)	D851G	probably damaging	Het
Amot	T	C	X: 144,259,287 (GRCm39)	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,106,138 (GRCm39)	E161*	probably null	Het
Atg9b	A	T	5: 24,591,992 (GRCm39)	I669N	probably damaging	Het
Ccdc83	A	G	7: 89,877,639 (GRCm39)	Y268H	probably damaging	Het
Cep170	A	G	1: 176,602,201 (GRCm39)	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,428,213 (GRCm39)	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,770,813 (GRCm39)	Y231F	probably benign	Het
Defa39	T	G	8: 22,192,653 (GRCm39)	K114N	possibly damaging	Het
Dock3	A	T	9: 106,791,740 (GRCm39)	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,469,861 (GRCm39)	I629N	probably damaging	Het
Dst	A	T	1: 34,231,893 (GRCm39)	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,383,906 (GRCm39)	P343L	probably benign	Het
Fbrs	A	G	7: 127,086,511 (GRCm39)		probably null	Het
Fbxl13	A	C	5: 21,727,135 (GRCm39)	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,534,673 (GRCm39)	S164T	probably damaging	Het
Gdi2	T	G	13: 3,612,034 (GRCm39)	S330A	probably benign	Het
Gm5878	A	T	6: 85,095,613 (GRCm39)	M70K	probably benign	Het
H2-Q6	G	T	17: 35,643,913 (GRCm39)	A21S	probably benign	Het
Hfm1	A	T	5: 106,995,519 (GRCm39)		probably null	Het
Hnmt	C	T	2: 23,909,167 (GRCm39)	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,485,779 (GRCm39)	A310D	probably damaging	Het
Ints1	A	T	5: 139,757,569 (GRCm39)		probably null	Het
Kcne4	C	A	1: 78,795,688 (GRCm39)	A112E	possibly damaging	Het
Krt32	T	C	11: 99,977,192 (GRCm39)	K236R	possibly damaging	Het
Maml2	T	C	9: 13,617,794 (GRCm39)	L380P	probably damaging	Het
Meis1	A	T	11: 18,938,356 (GRCm39)	D218E	possibly damaging	Het
Mon1b	G	A	8: 114,365,752 (GRCm39)	G360D	probably damaging	Het
Mpp4	A	G	1: 59,169,216 (GRCm39)	S383P	probably damaging	Het
Neb	A	G	2: 52,059,065 (GRCm39)		probably null	Het
Nlgn2	A	T	11: 69,717,912 (GRCm39)	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,439,481 (GRCm39)	L134P	probably damaging	Het
Opcml	G	A	9: 28,814,663 (GRCm39)		probably null	Het
Or2t29	A	T	11: 58,433,920 (GRCm39)	Y127*	probably null	Het
Or6c207	T	C	10: 129,105,135 (GRCm39)	Q19R	probably benign	Het
Or7c19	T	C	8: 85,957,693 (GRCm39)	S190P	probably damaging	Het
Pate2	A	T	9: 35,581,776 (GRCm39)		probably null	Het
Pgr	G	A	9: 8,900,718 (GRCm39)	V84M	probably damaging	Het
Pigu	A	T	2: 155,141,002 (GRCm39)	V296D	probably damaging	Het
Plcb2	G	A	2: 118,546,130 (GRCm39)	T555M	probably damaging	Het
Pld5	T	G	1: 175,791,542 (GRCm39)	D426A	probably benign	Het
Prdm2	G	T	4: 142,838,320 (GRCm39)	C1679*	probably null	Het
Psme2b	A	T	11: 48,836,890 (GRCm39)	V19D	probably benign	Het
Ptpn9	A	T	9: 56,934,712 (GRCm39)	N159Y	possibly damaging	Het
Sanbr	T	A	11: 23,526,801 (GRCm39)	R190W	probably damaging	Het
Sdc3	A	T	4: 130,546,114 (GRCm39)	T64S	unknown	Het
Serping1	T	G	2: 84,600,563 (GRCm39)	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,050,150 (GRCm39)	F436S	probably benign	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spink1	G	T	18: 43,868,287 (GRCm39)	S23*	probably null	Het
Stag1	T	C	9: 100,727,169 (GRCm39)		probably null	Het
Tnfaip8l1	G	A	17: 56,479,030 (GRCm39)	V107I	probably benign	Het
Tnik	A	G	3: 28,700,830 (GRCm39)	S907G	probably damaging	Het
Ttf1	T	A	2: 28,957,197 (GRCm39)	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp54	G	A	14: 20,615,008 (GRCm39)	A811V	probably benign	Het
Xirp2	A	G	2: 67,344,815 (GRCm39)	N2352S	probably benign	Het
Zan	T	C	5: 137,387,254 (GRCm39)	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,254,012 (GRCm39)	S161P	probably benign	Het
Zkscan5	A	T	5: 145,157,750 (GRCm39)	I751L	probably benign	Het
Zscan4d	A	G	7: 10,899,022 (GRCm39)	F85S	probably damaging	Het
Zzef1	A	G	11: 72,806,091 (GRCm39)	M2647V	probably benign	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
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'- AGTCGTGCCACTGCTTTTG -3'
(R):5'- CCAATGGTTCGTTCTGCAGG -3'

Sequencing Primer
(F):5'- GCTTTTGCAAAACACAGGCAC -3'
(R):5'- TTCGTTCTGCAGGGGCTCC -3'

Posted On

2014-11-12