Mutagenetix > Incidental Mutation

Incidental Mutation 'R7511:Sntb1'

582115

Institutional Source

Beutler Lab

Gene Symbol

Sntb1

Ensembl Gene

ENSMUSG00000060429

Gene Name

syntrophin, basic 1

Synonyms

beta1-Syntrophin, 59-1 DAP

MMRRC Submission

045584-MU

Accession Numbers

Essential gene?

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

Stock #

R7511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55499784-55770345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55511347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 412 (F412L)

Ref Sequence

ENSEMBL: ENSMUSP00000041294 (fasta)

Gene Model

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

AlphaFold

Q99L88

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039769
AA Change: F412L

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000041294
Gene: ENSMUSG00000060429
AA Change: F412L

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

0.5079

Coding Region Coverage

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

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,189,954 (GRCm39)	K327E	probably damaging	Het
Adamts14	G	A	10: 61,054,307 (GRCm39)	A572V	possibly damaging	Het
Add2	A	G	6: 86,075,597 (GRCm39)	N249D	probably benign	Het
Adgrb2	A	T	4: 129,915,904 (GRCm39)	M1503L	probably benign	Het
Alms1	A	G	6: 85,586,407 (GRCm39)	K421E	unknown	Het
B3galt5	A	G	16: 96,116,916 (GRCm39)	K183R	possibly damaging	Het
Braf	T	C	6: 39,665,187 (GRCm39)	I94M	probably damaging	Het
Cacna1a	A	G	8: 85,294,311 (GRCm39)	E1158G	possibly damaging	Het
Ccdc177	C	A	12: 80,804,457 (GRCm39)	V606L	unknown	Het
Ccdc38	C	A	10: 93,398,662 (GRCm39)	L147I	possibly damaging	Het
Ccdc83	T	C	7: 89,886,130 (GRCm39)	N210D	possibly damaging	Het
Cdh20	T	C	1: 109,925,583 (GRCm39)		probably benign	Het
Coro1b	T	A	19: 4,202,525 (GRCm39)	Y338N	probably damaging	Het
Crlf3	A	C	11: 79,954,812 (GRCm39)		probably null	Het
Crnn	A	T	3: 93,056,723 (GRCm39)	K503M	probably damaging	Het
Cul5	T	A	9: 53,537,269 (GRCm39)	N521I	probably damaging	Het
Cyp2c50	T	A	19: 40,080,634 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,337,042 (GRCm39)	H23R	possibly damaging	Het
Dock7	A	T	4: 98,949,519 (GRCm39)	L441H		Het
Dock7	C	A	4: 98,967,992 (GRCm39)	E162*	probably null	Het
Dpp9	A	T	17: 56,512,611 (GRCm39)	M174K	possibly damaging	Het
Dtd1	A	G	2: 144,459,147 (GRCm39)	D57G	probably benign	Het
F3	A	G	3: 121,525,206 (GRCm39)	E149G	probably damaging	Het
Glp2r	C	T	11: 67,648,417 (GRCm39)	R95K	probably damaging	Het
Gpr107	T	A	2: 31,068,358 (GRCm39)	F273L	probably benign	Het
Gria1	A	T	11: 57,174,451 (GRCm39)	I647F	probably damaging	Het
Heatr5a	A	C	12: 51,926,217 (GRCm39)	I1878S	possibly damaging	Het
Hsf2	G	T	10: 57,380,653 (GRCm39)	C230F	probably benign	Het
Igfbp2	T	G	1: 72,891,164 (GRCm39)	M254R	probably damaging	Het
Kifc2	C	A	15: 76,545,537 (GRCm39)	Q95K	possibly damaging	Het
Lnx1	T	G	5: 74,780,972 (GRCm39)	N183T	probably benign	Het
Ltn1	G	T	16: 87,205,716 (GRCm39)	T983K	possibly damaging	Het
Macf1	A	T	4: 123,367,093 (GRCm39)	V2556D	possibly damaging	Het
Map4k3	A	G	17: 80,905,077 (GRCm39)	V738A	possibly damaging	Het
Mtmr12	T	G	15: 12,265,681 (GRCm39)	Y466D	possibly damaging	Het
Musk	A	G	4: 58,333,672 (GRCm39)	I256V	probably benign	Het
Ociad1	T	C	5: 73,452,338 (GRCm39)	F43S	probably damaging	Het
Or10g9b	A	T	9: 39,918,229 (GRCm39)	S5R	possibly damaging	Het
Or4k5	A	G	14: 50,385,713 (GRCm39)	L206P	probably damaging	Het
Pah	G	A	10: 87,390,249 (GRCm39)	A132T	probably damaging	Het
Pak5	G	A	2: 135,925,244 (GRCm39)	S686F	possibly damaging	Het
Pi4kb	T	C	3: 94,896,623 (GRCm39)	S307P	probably benign	Het
Plxna1	T	C	6: 89,318,889 (GRCm39)	T645A	possibly damaging	Het
Pold1	C	T	7: 44,191,614 (GRCm39)	R124K	possibly damaging	Het
Pramel27	T	A	4: 143,573,116 (GRCm39)	I3N	possibly damaging	Het
Prdm10	T	C	9: 31,289,777 (GRCm39)	Y1153H	probably damaging	Het
Ptk2b	T	C	14: 66,391,693 (GRCm39)	N947S	possibly damaging	Het
Rad54b	A	G	4: 11,578,956 (GRCm39)		probably null	Het
S1pr4	A	G	10: 81,335,623 (GRCm39)		probably benign	Het
Sec23b	A	G	2: 144,432,269 (GRCm39)	K760E	probably benign	Het
Sergef	T	A	7: 46,264,170 (GRCm39)	N239I	probably damaging	Het
Serpinb9	C	A	13: 33,192,054 (GRCm39)	N78K	probably benign	Het
Stradb	T	A	1: 59,032,108 (GRCm39)	F294L	probably damaging	Het
Ttll11	G	A	2: 35,793,046 (GRCm39)	R266C	probably damaging	Het
Ttn	A	T	2: 76,624,882 (GRCm39)	M15232K	possibly damaging	Het
Tubgcp2	T	C	7: 139,584,793 (GRCm39)	I547M	probably benign	Het
Vgf	C	A	5: 137,060,245 (GRCm39)	P136T	unknown	Het
Vmn1r36	T	A	6: 66,693,914 (GRCm39)		probably benign	Het
Vmn2r102	T	C	17: 19,901,405 (GRCm39)	S511P	probably damaging	Het
Wdr27	C	T	17: 15,103,965 (GRCm39)	V714I	probably benign	Het
Zbed6	T	A	1: 133,586,981 (GRCm39)	I119L	probably benign	Het
Zfp229	A	G	17: 21,964,045 (GRCm39)	S92G	probably benign	Het
Zfp710	C	T	7: 79,732,250 (GRCm39)	Q476*	probably null	Het
Zfp808	A	G	13: 62,320,637 (GRCm39)	N622S	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
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
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'- TAGTTTGAGGCCAGAGCAGTTATG -3'
(R):5'- AATGAGTATTGCATAGGTTTGAGGC -3'

Sequencing Primer
(F):5'- GCCAGAGCAGTTATGGTTTCACC -3'
(R):5'- CTTCTACTATGTGATGTGTCAAGAG -3'

Posted On

2019-10-17