Mutagenetix > Incidental Mutation

Incidental Mutation 'R8901:Sntb2'

679970

Institutional Source

Beutler Lab

Gene Symbol

Sntb2

Ensembl Gene

ENSMUSG00000041308

Gene Name

syntrophin, basic 2

Synonyms

Snt2

MMRRC Submission

068758-MU

Accession Numbers

Essential gene?

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

Stock #

R8901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107662372-107740864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107737975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 508 (F508L)

Ref Sequence

ENSEMBL: ENSMUSP00000148684 (fasta)

Gene Model

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

AlphaFold

Q61235

Predicted Effect

probably benign
Transcript: ENSMUST00000047425
AA Change: V446A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037324
Gene: ENSMUSG00000041308
AA Change: V446A

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

possibly damaging
Transcript: ENSMUST00000212524
AA Change: F508L

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (53/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprm	T	C	11: 66,932,564 (GRCm39)	N115S	probably damaging	Het
Agbl5	T	C	5: 31,048,435 (GRCm39)	V169A	possibly damaging	Het
Ajuba	T	C	14: 54,807,830 (GRCm39)		probably benign	Het
Ankrd27	G	A	7: 35,332,243 (GRCm39)		probably benign	Het
Brat1	T	A	5: 140,698,608 (GRCm39)	M260K	probably benign	Het
Btbd6	G	T	12: 112,940,220 (GRCm39)		probably benign	Het
Cenpf	C	T	1: 189,394,248 (GRCm39)	G503S	probably benign	Het
Ces1e	C	T	8: 93,937,103 (GRCm39)	D323N	probably damaging	Het
Chrna5	T	C	9: 54,911,737 (GRCm39)	F75S	probably damaging	Het
Clmn	A	T	12: 104,747,211 (GRCm39)	S779T	probably benign	Het
Cntnap5c	T	A	17: 58,637,156 (GRCm39)	M1011K	probably benign	Het
Col11a2	A	T	17: 34,262,254 (GRCm39)	I164F	probably damaging	Het
Daw1	A	C	1: 83,183,643 (GRCm39)	K231T	possibly damaging	Het
Dnah5	T	G	15: 28,365,715 (GRCm39)	M2637R	possibly damaging	Het
Dsp	G	A	13: 38,365,155 (GRCm39)	V513M	probably damaging	Het
Eea1	T	G	10: 95,825,431 (GRCm39)	I42R	probably damaging	Het
Ehd4	A	T	2: 119,932,805 (GRCm39)	I207N	probably damaging	Het
F11	T	C	8: 45,701,851 (GRCm39)	T320A	probably benign	Het
Fhdc1	T	A	3: 84,352,874 (GRCm39)	M784L	probably benign	Het
Gm21411	G	A	4: 146,982,171 (GRCm39)	Q10*	probably null	Het
Gnao1	T	C	8: 94,694,687 (GRCm39)	M70T	probably benign	Het
Gtf2i	A	G	5: 134,324,389 (GRCm39)	F25S	probably damaging	Het
H2-T3	A	T	17: 36,498,252 (GRCm39)	D220E	probably damaging	Het
Hnrnpul2	T	G	19: 8,801,809 (GRCm39)	L339R	probably damaging	Het
Impg2	A	T	16: 56,072,528 (GRCm39)	D320V	probably damaging	Het
Itga2b	A	T	11: 102,351,630 (GRCm39)	L565Q	probably damaging	Het
Jph3	A	T	8: 122,457,561 (GRCm39)	Q67L	probably damaging	Het
Khnyn	T	C	14: 56,124,043 (GRCm39)	F99S	probably damaging	Het
Lhcgr	A	T	17: 89,063,030 (GRCm39)	L214Q	probably damaging	Het
Lix1l	C	A	3: 96,508,745 (GRCm39)		probably benign	Het
Mettl13	C	T	1: 162,373,814 (GRCm39)	V95I	possibly damaging	Het
Nod2	C	T	8: 89,390,437 (GRCm39)	T226M	probably damaging	Het
Nwd2	T	C	5: 63,963,685 (GRCm39)	W1090R	probably damaging	Het
Or2y1c	A	T	11: 49,361,035 (GRCm39)	D19V	probably damaging	Het
Pla2r1	C	A	2: 60,332,400 (GRCm39)	V481F		Het
Polr1b	T	A	2: 128,967,595 (GRCm39)	V996E	probably damaging	Het
Ppfia3	T	A	7: 44,991,141 (GRCm39)	R1027W	probably damaging	Het
Pramel21	A	T	4: 143,343,677 (GRCm39)	I326F	probably benign	Het
Rap1gds1	T	C	3: 138,663,305 (GRCm39)	D298G	probably damaging	Het
Rlf	T	C	4: 121,004,010 (GRCm39)	T1767A	possibly damaging	Het
Scn3a	C	T	2: 65,352,252 (GRCm39)	V353M	probably benign	Het
Setd1b	T	C	5: 123,299,114 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,646,799 (GRCm39)	V19A	probably benign	Het
Smarcal1	T	C	1: 72,624,939 (GRCm39)	S29P	possibly damaging	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Syt15	G	T	14: 33,948,028 (GRCm39)	R291L	probably damaging	Het
Tas2r114	T	A	6: 131,666,914 (GRCm39)	N38I	probably damaging	Het
Tg	T	A	15: 66,557,184 (GRCm39)	N948K	probably damaging	Het
Tmem115	A	G	9: 107,411,993 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,818,146 (GRCm39)	D175N	probably benign	Het
Txk	T	A	5: 72,858,050 (GRCm39)	Y398F	probably damaging	Het
Wdr36	C	A	18: 32,980,013 (GRCm39)	T246K	probably damaging	Het
Wdr43	A	T	17: 71,932,461 (GRCm39)	R113S	probably benign	Het
Ybx1	T	C	4: 119,138,785 (GRCm39)	Y239C	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
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'- ACTGCTATGAATAAGCTCTAGGTTC -3'
(R):5'- CTCAGGAAGGCACTGTGATG -3'

Sequencing Primer
(F):5'- AGGTTCAATTCCCAGCATGG -3'
(R):5'- GGCACTGTGATGGAGGC -3'

Posted On

2021-08-31