Mutagenetix > Incidental Mutation

Incidental Mutation 'R7458:Sntb2'

578254

Institutional Source

Beutler Lab

Gene Symbol

Sntb2

Ensembl Gene

ENSMUSG00000041308

Gene Name

syntrophin, basic 2

Synonyms

Snt2

MMRRC Submission

045532-MU

Accession Numbers

Essential gene?

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

Stock #

R7458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107662372-107740864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107662930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 166 (A166E)

Ref Sequence

ENSEMBL: ENSMUSP00000037324 (fasta)

Gene Model

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

AlphaFold

Q61235

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047425
AA Change: A166E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037324
Gene: ENSMUSG00000041308
AA Change: A166E

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 benign
Transcript: ENSMUST00000212524
AA Change: A166E

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,338,510 (GRCm39)	V501M	probably benign	Het
Abca13	T	C	11: 9,240,777 (GRCm39)	F880S	possibly damaging	Het
AI182371	T	A	2: 34,976,516 (GRCm39)	R206S	possibly damaging	Het
Akr1a1	A	T	4: 116,495,014 (GRCm39)	M286K	possibly damaging	Het
Aldh8a1	A	G	10: 21,271,492 (GRCm39)	E406G	possibly damaging	Het
Ambra1	T	A	2: 91,748,029 (GRCm39)	V1255D	probably benign	Het
Apol7e	C	T	15: 77,598,604 (GRCm39)	T23I	probably benign	Het
Armh4	T	C	14: 49,920,196 (GRCm39)	Y711C	probably damaging	Het
Boc	T	C	16: 44,307,119 (GRCm39)	E1034G		Het
Bricd5	T	C	17: 24,693,476 (GRCm39)	I39T	probably damaging	Het
Ccne1	T	C	7: 37,800,096 (GRCm39)	T163A	probably damaging	Het
Cct7	T	C	6: 85,436,978 (GRCm39)	V72A	probably benign	Het
Cdh3	A	G	8: 107,263,779 (GRCm39)	D199G	probably damaging	Het
Clip1	T	G	5: 123,778,609 (GRCm39)	E438A	probably damaging	Het
Col4a4	T	C	1: 82,476,669 (GRCm39)	I553M	unknown	Het
Csmd1	A	T	8: 16,003,738 (GRCm39)	N2605K	probably damaging	Het
Dnajc10	T	A	2: 80,155,094 (GRCm39)		probably null	Het
Fbn1	T	A	2: 125,161,036 (GRCm39)	D2168V	probably benign	Het
G2e3	T	A	12: 51,412,290 (GRCm39)	N443K	possibly damaging	Het
Gak	T	C	5: 108,730,940 (GRCm39)	D822G	probably benign	Het
Gm9493	A	G	19: 23,597,277 (GRCm39)	I58V	probably benign	Het
Gpr65	T	G	12: 98,242,324 (GRCm39)	S326A	probably damaging	Het
Irs2	T	C	8: 11,057,739 (GRCm39)	E231G	probably damaging	Het
Itga1	T	C	13: 115,122,802 (GRCm39)	D718G	probably benign	Het
Itih1	T	C	14: 30,665,223 (GRCm39)	M1V	probably null	Het
Lgr5	A	G	10: 115,293,660 (GRCm39)		probably null	Het
Lipn	A	G	19: 34,049,242 (GRCm39)	N136S	probably benign	Het
Lrrc37a	G	A	11: 103,388,258 (GRCm39)	T2389I	unknown	Het
Myo7b	G	A	18: 32,121,604 (GRCm39)	A767V	possibly damaging	Het
Necab1	A	T	4: 15,111,244 (GRCm39)	S61R	possibly damaging	Het
Or5m8	A	G	2: 85,822,994 (GRCm39)	T278A	probably damaging	Het
Phyhip	G	A	14: 70,699,260 (GRCm39)	R21H	probably damaging	Het
Pls1	G	A	9: 95,667,560 (GRCm39)	T116I	probably damaging	Het
Pnn	C	A	12: 59,119,200 (GRCm39)	S594R	unknown	Het
Psen1	T	A	12: 83,761,540 (GRCm39)	I114N	probably damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Slc12a7	T	A	13: 73,933,188 (GRCm39)	V82E	probably damaging	Het
Slc25a44	A	G	3: 88,323,368 (GRCm39)	I246T	probably benign	Het
Slc2a13	T	A	15: 91,296,390 (GRCm39)	Y308F	probably benign	Het
Tas2r135	T	A	6: 42,382,881 (GRCm39)	V140D	possibly damaging	Het
Tdrd6	T	C	17: 43,935,937 (GRCm39)	T1704A	probably benign	Het
Txndc12	A	G	4: 108,718,606 (GRCm39)	D159G	probably benign	Het
Ubash3a	T	C	17: 31,427,139 (GRCm39)	L16P	probably benign	Het
Usp4	T	C	9: 108,245,055 (GRCm39)	L331P	probably damaging	Het
Vmn2r108	T	C	17: 20,692,532 (GRCm39)	D108G	probably benign	Het
Vmn2r58	C	A	7: 41,487,123 (GRCm39)	A591S	probably benign	Het
Wdpcp	T	C	11: 21,698,919 (GRCm39)	I566T	probably damaging	Het
Zfp866	T	A	8: 70,218,202 (GRCm39)	K473*	probably null	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
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'- TGGAGCTGCTTCTAAGGGAG -3'
(R):5'- GGCGGTAAAGTAACACTTCGG -3'

Sequencing Primer
(F):5'- CTGGGCATCAGCATCAAGG -3'
(R):5'- GGTGGCTGCCCAACTTTC -3'

Posted On

2019-10-07