Mutagenetix > Incidental Mutation

Incidental Mutation 'R0345:Sntb2'

38393

Institutional Source

Beutler Lab

Gene Symbol

Sntb2

Ensembl Gene

ENSMUSG00000041308

Gene Name

syntrophin, basic 2

Synonyms

Snt2

MMRRC Submission

038552-MU

Accession Numbers

Essential gene?

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

Stock #

R0345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107662372-107740864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107728170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 373 (S373P)

Ref Sequence

ENSEMBL: ENSMUSP00000037324 (fasta)

Gene Model

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

AlphaFold

Q61235

Predicted Effect

probably damaging
Transcript: ENSMUST00000047425
AA Change: S373P

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

SMART Domains

Protein: ENSMUSP00000037324
Gene: ENSMUSG00000041308
AA Change: S373P

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: S373P

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.1744

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	C	14: 59,377,079 (GRCm39)	N105D	possibly damaging	Het
A2m	T	C	6: 121,615,231 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,415,198 (GRCm39)	N641S	probably damaging	Het
Aff4	T	A	11: 53,263,708 (GRCm39)	S243T	probably benign	Het
Agap2	A	G	10: 126,923,764 (GRCm39)	H713R	unknown	Het
Ap2a2	T	A	7: 141,211,206 (GRCm39)	M914K	probably damaging	Het
Bcl7c	A	T	7: 127,307,635 (GRCm39)	M22K	possibly damaging	Het
Cacna1i	A	T	15: 80,256,663 (GRCm39)	D1019V	probably damaging	Het
Cd7	T	C	11: 120,929,012 (GRCm39)	T80A	probably benign	Het
Chia1	T	C	3: 106,029,755 (GRCm39)	Y130H	probably damaging	Het
Chmp6	T	C	11: 119,808,872 (GRCm39)		probably benign	Het
Chrnb4	A	G	9: 54,942,878 (GRCm39)	V132A	probably benign	Het
Ctnna3	A	G	10: 63,402,619 (GRCm39)	D110G	probably benign	Het
Cyp2d37-ps	A	T	15: 82,573,975 (GRCm39)		noncoding transcript	Het
Dnah6	T	C	6: 72,998,240 (GRCm39)	M4061V	probably benign	Het
Dydc2	C	A	14: 40,783,903 (GRCm39)	M73I	probably benign	Het
Egflam	G	T	15: 7,319,475 (GRCm39)		probably null	Het
Fam228b	C	T	12: 4,798,351 (GRCm39)	V151I	possibly damaging	Het
Fanca	C	T	8: 124,031,552 (GRCm39)	V380I	probably damaging	Het
Gbp2b	T	C	3: 142,313,944 (GRCm39)	L408S	probably damaging	Het
Kcnh4	T	C	11: 100,648,507 (GRCm39)	S66G	probably benign	Het
Kcnq3	A	T	15: 65,892,154 (GRCm39)	V407D	possibly damaging	Het
Kif24	A	T	4: 41,428,413 (GRCm39)	D182E	probably benign	Het
Llgl2	A	G	11: 115,740,818 (GRCm39)		probably benign	Het
Lmo7	T	A	14: 102,114,313 (GRCm39)	N140K	probably damaging	Het
Myo5c	A	G	9: 75,204,701 (GRCm39)	E1518G	probably damaging	Het
Myof	A	T	19: 38,012,793 (GRCm39)	N47K	probably damaging	Het
Nckap1	G	T	2: 80,375,321 (GRCm39)		probably benign	Het
Nlrp1a	C	A	11: 71,014,501 (GRCm39)	G250W	probably damaging	Het
Nol4l	T	A	2: 153,253,672 (GRCm39)	S390C	probably benign	Het
Or2ag2b	T	C	7: 106,417,908 (GRCm39)	F206S	probably benign	Het
Or52e18	T	A	7: 104,609,388 (GRCm39)	M184L	probably damaging	Het
Or5ak22	T	C	2: 85,230,685 (GRCm39)	Q64R	possibly damaging	Het
Or5h26	G	A	16: 58,988,269 (GRCm39)	P79L	possibly damaging	Het
Plec	G	T	15: 76,061,367 (GRCm39)	P2886T	probably damaging	Het
Prdm16	T	C	4: 154,425,568 (GRCm39)	Y738C	probably benign	Het
Ptprz1	A	G	6: 23,016,164 (GRCm39)	Y820C	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,718,019 (GRCm39)	P98S	probably damaging	Het
Siglecf	T	C	7: 43,001,368 (GRCm39)	F112S	probably damaging	Het
Slc6a16	C	T	7: 44,908,672 (GRCm39)	A84V	possibly damaging	Het
Sorcs2	C	T	5: 36,185,218 (GRCm39)	V953I	probably benign	Het
Spata31f1a	T	C	4: 42,851,116 (GRCm39)	I347V	probably benign	Het
St7l	T	C	3: 104,803,125 (GRCm39)		probably benign	Het
Stap2	A	G	17: 56,307,097 (GRCm39)	V217A	probably damaging	Het
Stxbp5l	A	T	16: 37,108,670 (GRCm39)	D215E	probably damaging	Het
Synm	C	T	7: 67,385,569 (GRCm39)	V256I	probably benign	Het
Syt13	A	C	2: 92,776,412 (GRCm39)	E233A	possibly damaging	Het
Tecta	T	A	9: 42,295,514 (GRCm39)	E327V	probably damaging	Het
Tent5b	A	T	4: 133,213,522 (GRCm39)	Q131L	probably benign	Het
Themis3	A	T	17: 66,866,540 (GRCm39)		probably null	Het
Ttll13	T	A	7: 79,897,084 (GRCm39)	D14E	probably benign	Het
Tubb2a	A	C	13: 34,260,620 (GRCm39)	D26E	probably benign	Het
Ubr1	T	C	2: 120,734,584 (GRCm39)		probably null	Het
Vps13d	A	T	4: 144,844,195 (GRCm39)	V2537E	possibly damaging	Het
Zscan10	T	A	17: 23,829,056 (GRCm39)	F456I	probably damaging	Het
Zyg11b	A	G	4: 108,123,604 (GRCm39)	I121T	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
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
R9411:Sntb2	UTSW	8	107,737,931 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCTCCTGTGACACCAGGGACTAT -3'
(R):5'- TCAGCTCAGCAGCAGCATGGCA -3'

Sequencing Primer
(F):5'- gcaccgactgctcttcc -3'
(R):5'- AGCCCTGAACaagtattctggtc -3'

Posted On

2013-05-23