Mutagenetix > Incidental Mutation

Incidental Mutation 'BB007:Sntb2'

642416

Institutional Source

Beutler Lab

Gene Symbol

Sntb2

Ensembl Gene

ENSMUSG00000041308

Gene Name

syntrophin, basic 2

Synonyms

Snt2

Accession Numbers

Essential gene?

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

Stock #

BB007

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107662372-107740864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107728269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 406 (S406T)

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: S406T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037324
Gene: ENSMUSG00000041308
AA Change: S406T

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: S406T

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 41,250,107 (GRCm39)	T739I	probably benign	Het
Adam23	G	T	1: 63,624,586 (GRCm39)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,499,547 (GRCm39)	R31S	probably damaging	Het
Ano4	T	A	10: 89,163,138 (GRCm39)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,796,625 (GRCm39)	V675A	probably damaging	Het
Brca2	A	G	5: 150,481,975 (GRCm39)	E2839G	probably damaging	Het
Capn5	C	T	7: 97,773,085 (GRCm39)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm39)	T23M	probably damaging	Het
Cerk	C	T	15: 86,028,920 (GRCm39)	E379K	possibly damaging	Het
Comp	G	A	8: 70,826,503 (GRCm39)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,236,982 (GRCm39)	A220V	possibly damaging	Het
Cyp2c69	G	T	19: 39,831,434 (GRCm39)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,546,504 (GRCm39)	D555G	probably damaging	Het
E2f6	T	A	12: 16,869,058 (GRCm39)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,733,589 (GRCm39)	D716E	probably benign	Het
Esp16	T	G	17: 39,850,868 (GRCm39)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,700,061 (GRCm39)	S2199A	probably benign	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Gas7	A	G	11: 67,556,217 (GRCm39)	I185M	probably damaging	Het
Glg1	A	T	8: 111,887,367 (GRCm39)	L1047I	possibly damaging	Het
Golga5	A	G	12: 102,450,681 (GRCm39)	N445D	probably benign	Het
Grin2c	A	T	11: 115,147,063 (GRCm39)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 120,161,499 (GRCm39)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,733,769 (GRCm39)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,484,931 (GRCm39)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,587,803 (GRCm39)	V467A	probably damaging	Het
Itgad	C	A	7: 127,782,280 (GRCm39)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,506 (GRCm39)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Krt75	C	A	15: 101,473,318 (GRCm39)	*552L	probably null	Het
Mbd2	A	G	18: 70,701,948 (GRCm39)	D154G	probably damaging	Het
Mutyh	A	T	4: 116,674,153 (GRCm39)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,864,825 (GRCm39)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,089,619 (GRCm39)		probably null	Het
Nup205	T	G	6: 35,171,511 (GRCm39)	M458R	probably damaging	Het
Or1e32	A	C	11: 73,705,926 (GRCm39)		probably benign	Het
Or1j4	G	T	2: 36,740,285 (GRCm39)	V76F	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or5b119	G	A	19: 13,457,019 (GRCm39)	P181L	probably damaging	Het
Or6b2	T	A	1: 92,407,570 (GRCm39)	M258L	probably benign	Het
Or8b101	A	G	9: 38,020,264 (GRCm39)	N89S	possibly damaging	Het
Or8k25	T	A	2: 86,243,560 (GRCm39)	T279S	probably damaging	Het
Plcl2	T	G	17: 50,913,831 (GRCm39)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,630,264 (GRCm39)	Y618N	unknown	Het
Rab43	A	T	6: 87,788,348 (GRCm39)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,596,726 (GRCm39)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,164,787 (GRCm39)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,335,193 (GRCm39)	D1265E	probably damaging	Het
Sos1	T	C	17: 80,714,267 (GRCm39)	I1068V	probably benign	Het
Spart	A	G	3: 55,035,697 (GRCm39)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,153,058 (GRCm39)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,510,964 (GRCm39)	T10S		Het
Txk	A	C	5: 72,892,536 (GRCm39)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,682,258 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,900,556 (GRCm39)	S357P	probably benign	Het
Wac	T	A	18: 7,921,560 (GRCm39)	N565K	possibly damaging	Het
Zfp1007	A	T	5: 109,823,622 (GRCm39)	C609*	probably null	Het
Zfp709	G	T	8: 72,644,684 (GRCm39)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,299,049 (GRCm39)	Q562*	probably null	Het

Other mutations in Sntb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9411:Sntb2	UTSW	8	107,737,931 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGTTGAAGGTAATGATCACCTTAG -3'
(R):5'- CACACACTGATAAAGATAAGGCTTG -3'

Sequencing Primer
(F):5'- GGTAATGATCACCTTAGCTTTCTG -3'
(R):5'- GCTGTGTGAGACCCTGTCAAAAAC -3'

Posted On

2020-08-01