Mutagenetix > Incidental Mutation

Incidental Mutation 'R9411:Sntb2'

711811

Institutional Source

Beutler Lab

Gene Symbol

Sntb2

Ensembl Gene

ENSMUSG00000041308

Gene Name

syntrophin, basic 2

Synonyms

Snt2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R9411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107662372-107740864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107737931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 493 (D493G)

Ref Sequence

ENSEMBL: ENSMUSP00000148684 (fasta)

Gene Model

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

AlphaFold

Q61235

Predicted Effect

silent
Transcript: ENSMUST00000047425

SMART Domains

Protein: ENSMUSP00000037324
Gene: ENSMUSG00000041308

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

probably damaging
Transcript: ENSMUST00000212524
AA Change: D493G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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]
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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	G	A	13: 91,919,919 (GRCm39)	A285T	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atg7	T	A	6: 114,690,289 (GRCm39)	M650K	probably benign	Het
B020011L13Rik	G	A	1: 117,729,246 (GRCm39)	G251E	probably benign	Het
Bhlha9	T	C	11: 76,564,018 (GRCm39)	V215A	probably benign	Het
Bmal1	C	A	7: 112,907,837 (GRCm39)	S513*	probably null	Het
C2cd3	T	C	7: 100,065,704 (GRCm39)	V452A		Het
Cd55	G	A	1: 130,368,114 (GRCm39)	H370Y	probably benign	Het
Col6a1	A	G	10: 76,547,487 (GRCm39)	V662A	unknown	Het
Crocc	A	G	4: 140,749,577 (GRCm39)		probably null	Het
Cspg4b	T	A	13: 113,504,767 (GRCm39)	N1965K		Het
Dnah1	C	T	14: 31,018,256 (GRCm39)	V1421M	probably damaging	Het
Eid3	T	G	10: 82,703,652 (GRCm39)	I371S	probably damaging	Het
Flnc	G	A	6: 29,441,484 (GRCm39)	R422Q	probably benign	Het
Fshr	T	C	17: 89,293,148 (GRCm39)	Y510C	probably damaging	Het
Garem1	C	T	18: 21,369,057 (GRCm39)		probably null	Het
Gcn1	C	T	5: 115,733,098 (GRCm39)	T1045M	possibly damaging	Het
Ggt6	T	A	11: 72,326,560 (GRCm39)	L39H	probably damaging	Het
Glrb	T	C	3: 80,767,610 (GRCm39)		probably null	Het
Gpr171	T	A	3: 59,005,311 (GRCm39)	K155*	probably null	Het
Has2	T	A	15: 56,531,306 (GRCm39)	T470S	possibly damaging	Het
Ighv1-34	C	T	12: 114,815,070 (GRCm39)	V31M	probably damaging	Het
Kdm2a	A	T	19: 4,412,835 (GRCm39)	N50K	probably damaging	Het
Mfsd9	C	T	1: 40,829,692 (GRCm39)	V30M	probably damaging	Het
Msra	A	G	14: 64,471,331 (GRCm39)	I126T	probably benign	Het
Nkd2	G	A	13: 73,969,330 (GRCm39)	L379F	probably benign	Het
Nr2f2	A	C	7: 70,007,525 (GRCm39)	V319G		Het
Ntng2	A	T	2: 29,138,048 (GRCm39)	L2Q	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcnt	T	C	10: 76,258,896 (GRCm39)	E523G	probably damaging	Het
Pllp	C	T	8: 95,402,868 (GRCm39)	A158T	probably benign	Het
Plxna4	A	G	6: 32,159,682 (GRCm39)	S1431P	probably damaging	Het
Pramel16	A	T	4: 143,676,215 (GRCm39)	F296L	probably damaging	Het
Pramel31	A	G	4: 144,089,997 (GRCm39)	I346V	probably benign	Het
Prpf40a	T	C	2: 53,029,200 (GRCm39)	D951G	unknown	Het
Retn	G	A	8: 3,707,378 (GRCm39)	A113T	probably benign	Het
Rexo1	G	T	10: 80,397,248 (GRCm39)	R3S		Het
Rras	T	A	7: 44,669,979 (GRCm39)	I137N	possibly damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Socs5	T	C	17: 87,442,521 (GRCm39)	I487T	possibly damaging	Het
Spryd3	A	G	15: 102,027,843 (GRCm39)	Y235H	probably damaging	Het
Suco	T	A	1: 161,666,356 (GRCm39)	I515F	probably damaging	Het
Syn2	T	C	6: 115,231,152 (GRCm39)	V269A	possibly damaging	Het
Tmbim6	T	C	15: 99,304,501 (GRCm39)	L186P	probably damaging	Het
Tmem234	T	C	4: 129,495,988 (GRCm39)	Y57H	probably damaging	Het
Tnik	C	A	3: 28,684,754 (GRCm39)	P861T	probably damaging	Het
Tns1	A	G	1: 73,992,662 (GRCm39)	L45P	probably damaging	Het
Veph1	T	A	3: 65,995,238 (GRCm39)	D671V	possibly damaging	Het
Vwc2l	A	T	1: 70,767,980 (GRCm39)	I15F	probably benign	Het
Zdbf2	A	T	1: 63,343,288 (GRCm39)	N556Y	probably damaging	Het
Zfp202	T	A	9: 40,118,878 (GRCm39)	V97D	probably damaging	Het
Zfp800	T	C	6: 28,243,430 (GRCm39)	I512V	possibly damaging	Het
Zkscan2	T	C	7: 123,084,405 (GRCm39)	D573G	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
R6123:Sntb2	UTSW	8	107,707,857 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TCACCTAGGCTTTATGAGATTGC -3'
(R):5'- TCAGGAAGGCACTGTGATGG -3'

Sequencing Primer
(F):5'- TAGAGGACCTAGGTTCAATTCCCAG -3'
(R):5'- GCACTGTGATGGAGGCAG -3'

Posted On

2022-05-16