Mutagenetix > Incidental Mutation

Incidental Mutation 'R6123:Sntb2'

485835

Institutional Source

Beutler Lab

Gene Symbol

Sntb2

Ensembl Gene

ENSMUSG00000041308

Gene Name

syntrophin, basic 2

Synonyms

Snt2

MMRRC Submission

044270-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R6123 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107662372-107740864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107707857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 207 (G207D)

Ref Sequence

ENSEMBL: ENSMUSP00000148684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047425] [ENSMUST00000212524]

AlphaFold

Q61235

Predicted Effect

probably damaging
Transcript: ENSMUST00000047425
AA Change: G207D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037324
Gene: ENSMUSG00000041308
AA Change: G207D

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
low complexity region	39	50	N/A	INTRINSIC
low complexity region	62	92	N/A	INTRINSIC
low complexity region	93	99	N/A	INTRINSIC
PDZ	104	178	1.48e-17	SMART
PH	144	282	3.52e0	SMART
PH	306	419	4.07e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212298

Predicted Effect

probably damaging
Transcript: ENSMUST00000212524
AA Change: G207D

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

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]
PHENOTYPE: Homozygous null mice have no overt phenotype. They are fertile and motile with no signs of muscular dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	A	G	4: 152,284,402 (GRCm39)	E24G	probably benign	Het
Ankrd34b	A	G	13: 92,575,584 (GRCm39)	E272G	probably damaging	Het
Arhgef18	A	T	8: 3,487,091 (GRCm39)	N270I	probably damaging	Het
AU040320	A	G	4: 126,763,179 (GRCm39)		probably benign	Het
Btnl10	C	A	11: 58,811,130 (GRCm39)	S151Y	probably damaging	Het
Ccdc146	C	A	5: 21,510,595 (GRCm39)	R504I	possibly damaging	Het
Ckmt1	C	G	2: 121,194,060 (GRCm39)	R408G	probably benign	Het
Clba1	T	C	12: 112,774,530 (GRCm39)	F153L	probably damaging	Het
Cyp2j6	A	T	4: 96,406,266 (GRCm39)	*502R	probably null	Het
Dido1	A	T	2: 180,325,760 (GRCm39)	V476E	probably benign	Het
Dnah2	T	C	11: 69,409,185 (GRCm39)	K398E	probably benign	Het
E130308A19Rik	A	G	4: 59,737,565 (GRCm39)	Y392C	probably damaging	Het
Esf1	T	A	2: 140,010,309 (GRCm39)	D9V	probably benign	Het
Fam168a	A	G	7: 100,473,357 (GRCm39)	Q82R	probably damaging	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Gm14496	T	A	2: 181,633,020 (GRCm39)	M1K	probably null	Het
Gm6665	A	G	18: 31,952,937 (GRCm39)	M79T	probably benign	Het
Gna15	A	G	10: 81,345,178 (GRCm39)	L229P	probably damaging	Het
Herc1	A	G	9: 66,404,532 (GRCm39)	T4451A	probably damaging	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Ighv5-4	A	T	12: 113,561,313 (GRCm39)	S36T	probably damaging	Het
Ints3	A	G	3: 90,320,861 (GRCm39)	V186A	probably benign	Het
Jrk	A	G	15: 74,578,529 (GRCm39)	I252T	possibly damaging	Het
Kcnh5	T	C	12: 75,134,365 (GRCm39)	S395G	probably benign	Het
Kcnt2	C	T	1: 140,290,718 (GRCm39)	P103S	probably damaging	Het
Klra10	T	C	6: 130,256,339 (GRCm39)	K105R	probably benign	Het
P4ha1	A	T	10: 59,186,349 (GRCm39)	K276I	possibly damaging	Het
Pcyox1	A	G	6: 86,365,910 (GRCm39)	S435P	possibly damaging	Het
Potegl	T	C	2: 23,120,134 (GRCm39)	Y235H	possibly damaging	Het
Pramel26	A	T	4: 143,539,334 (GRCm39)	M53K	possibly damaging	Het
R3hdm1	A	T	1: 128,096,773 (GRCm39)	N103I	probably damaging	Het
Rnf213	T	C	11: 119,302,339 (GRCm39)	V421A	probably damaging	Het
Rnpc3	A	T	3: 113,402,705 (GRCm39)		probably null	Het
Scaf11	A	G	15: 96,318,335 (GRCm39)	S410P	probably benign	Het
Slc16a1	A	G	3: 104,560,510 (GRCm39)	T272A	probably benign	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Slitrk3	T	C	3: 72,957,095 (GRCm39)	D559G	probably damaging	Het
Spata31f1e	A	G	4: 42,793,065 (GRCm39)	S356P	possibly damaging	Het
Spdye4a	T	C	5: 143,211,473 (GRCm39)	I30M	possibly damaging	Het
Thumpd1	A	T	7: 119,316,232 (GRCm39)	V239E	probably damaging	Het
Tnfsf15	T	C	4: 63,663,162 (GRCm39)	S54G	probably benign	Het
Tor1aip1	A	G	1: 155,882,951 (GRCm39)	I299T	probably damaging	Het
Tpst2	C	T	5: 112,456,084 (GRCm39)	R208C	probably damaging	Het
Tubgcp2	T	C	7: 139,587,510 (GRCm39)	Y285C	probably damaging	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Washc5	A	G	15: 59,206,959 (GRCm39)	S1105P	probably damaging	Het

Other mutations in Sntb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB007:Sntb2	UTSW	8	107,728,269 (GRCm39)	missense	probably damaging	0.98
BB017:Sntb2	UTSW	8	107,728,269 (GRCm39)	missense	probably damaging	0.98
R0226:Sntb2	UTSW	8	107,728,215 (GRCm39)	missense	probably damaging	1.00
R0345:Sntb2	UTSW	8	107,728,170 (GRCm39)	missense	probably damaging	1.00
R0766:Sntb2	UTSW	8	107,728,209 (GRCm39)	missense	probably damaging	1.00
R1027:Sntb2	UTSW	8	107,718,203 (GRCm39)	missense	probably benign	0.28
R1312:Sntb2	UTSW	8	107,728,209 (GRCm39)	missense	probably damaging	1.00
R1514:Sntb2	UTSW	8	107,718,164 (GRCm39)	missense	probably damaging	1.00
R1942:Sntb2	UTSW	8	107,737,984 (GRCm39)	missense	probably damaging	0.98
R2937:Sntb2	UTSW	8	107,662,729 (GRCm39)	missense	probably benign	0.06
R3968:Sntb2	UTSW	8	107,723,772 (GRCm39)	nonsense	probably null
R4455:Sntb2	UTSW	8	107,718,239 (GRCm39)	critical splice donor site	probably null
R4458:Sntb2	UTSW	8	107,718,239 (GRCm39)	critical splice donor site	probably null
R4526:Sntb2	UTSW	8	107,736,595 (GRCm39)	missense	probably damaging	0.99
R7378:Sntb2	UTSW	8	107,707,944 (GRCm39)	missense	probably damaging	1.00
R7458:Sntb2	UTSW	8	107,662,930 (GRCm39)	missense	possibly damaging	0.83
R7877:Sntb2	UTSW	8	107,738,164 (GRCm39)	missense	probably benign
R7930:Sntb2	UTSW	8	107,728,269 (GRCm39)	missense	probably damaging	0.98
R8403:Sntb2	UTSW	8	107,728,166 (GRCm39)	nonsense	probably null
R8734:Sntb2	UTSW	8	107,728,320 (GRCm39)	missense	probably benign	0.29
R8901:Sntb2	UTSW	8	107,737,975 (GRCm39)	missense	possibly damaging	0.90
R8964:Sntb2	UTSW	8	107,707,808 (GRCm39)	missense	possibly damaging	0.95
R9135:Sntb2	UTSW	8	107,662,831 (GRCm39)	missense	possibly damaging	0.83
R9411:Sntb2	UTSW	8	107,737,931 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGGTCAAGCTCAAGGGTTTG -3'
(R):5'- GGGCTCCAAAATTAAAGACAGATCTC -3'

Sequencing Primer
(F):5'- TCATTCTATAGAACAGGCTGGCC -3'
(R):5'- CTGATCTCAGAACAGGAGGAGGC -3'

Posted On

2017-08-16