Mutagenetix > Incidental Mutation

Incidental Mutation 'R8508:Sorbs3'

655721

Institutional Source

Beutler Lab

Gene Symbol

Sorbs3

Ensembl Gene

ENSMUSG00000022091

Gene Name

sorbin and SH3 domain containing 3

Synonyms

SH3P3, vinexin beta, vinexin alpha, Sh3d4

MMRRC Submission

067844-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70417917-70449438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70440396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 117 (D117E)

Ref Sequence

ENSEMBL: ENSMUSP00000022682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022682] [ENSMUST00000227259] [ENSMUST00000227653] [ENSMUST00000227929]

AlphaFold

Q9R1Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000022682
AA Change: D117E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022682
Gene: ENSMUSG00000022091
AA Change: D117E

Domain	Start	End	E-Value	Type
Sorb	165	214	6.87e-30	SMART
SH3	447	502	9.24e-21	SMART
SH3	521	578	4.18e-19	SMART
low complexity region	597	613	N/A	INTRINSIC
SH3	677	733	8.31e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227259
AA Change: D64E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000227653
AA Change: D64E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000227929
AA Change: D117E

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous mutants are generally normal, viable, and fertile, except showing delayed wound healing in response to full-thickness skin injury in vivo. [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
4932438H23Rik	T	G	16: 90,852,500 (GRCm39)	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,375,795 (GRCm39)	N154D	probably damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Ankrd27	T	A	7: 35,301,051 (GRCm39)	L117*	probably null	Het
Arhgap21	C	T	2: 20,858,991 (GRCm39)	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,674,764 (GRCm39)	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,273,587 (GRCm39)	K444*	probably null	Het
Atp6v1a	G	A	16: 43,922,225 (GRCm39)	R338C	probably damaging	Het
Canx	T	C	11: 50,202,474 (GRCm39)	D44G	possibly damaging	Het
Ccdc141	T	A	2: 76,962,588 (GRCm39)	M119L	probably benign	Het
Ckmt1	A	C	2: 121,193,172 (GRCm39)	Q299P	possibly damaging	Het
Dhx16	T	C	17: 36,196,812 (GRCm39)	S601P	probably damaging	Het
Dna2	A	C	10: 62,786,673 (GRCm39)	R140S	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Eif1ad10	T	G	12: 88,216,455 (GRCm39)	E139A	unknown	Het
Eogt	A	G	6: 97,120,959 (GRCm39)	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,056,707 (GRCm39)	M1K	probably null	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394 (GRCm38)	V2571I	probably damaging	Het
Gm43518	A	G	5: 124,076,322 (GRCm39)	E123G	unknown	Het
Gpatch2	A	G	1: 187,036,552 (GRCm39)	N374S	probably benign	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Hoxa11	T	C	6: 52,222,782 (GRCm39)		probably benign	Het
Hydin	G	A	8: 111,308,650 (GRCm39)	V3979I	probably benign	Het
Ighe	C	T	12: 113,235,413 (GRCm39)	W277*	probably null	Het
Kmt2c	G	T	5: 25,519,120 (GRCm39)	T2330K	probably benign	Het
Krt6a	T	A	15: 101,601,170 (GRCm39)	K261M	probably damaging	Het
Lats2	A	C	14: 57,960,162 (GRCm39)	S161A	probably benign	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Npepps	A	G	11: 97,135,252 (GRCm39)		probably null	Het
Ntn4	A	T	10: 93,576,966 (GRCm39)	N545Y	possibly damaging	Het
Or11g1	A	C	14: 50,651,132 (GRCm39)	M44L	probably benign	Het
Or1n1b	A	G	2: 36,780,366 (GRCm39)	S165P	probably damaging	Het
Or2m12	T	C	16: 19,105,451 (GRCm39)	D14G	probably benign	Het
Or9i2	A	T	19: 13,815,766 (GRCm39)	M257K	possibly damaging	Het
Osbpl2	T	A	2: 179,797,136 (GRCm39)	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,108,245 (GRCm39)	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,751,806 (GRCm39)	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,361,872 (GRCm39)	R373S	probably damaging	Het
Rnf130	A	G	11: 49,978,264 (GRCm39)	D275G	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,694 (GRCm39)	I26V	probably benign	Het
Setd5	T	C	6: 113,098,048 (GRCm39)	S696P	probably damaging	Het
Sgip1	A	G	4: 102,772,268 (GRCm39)	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,566,430 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,592,467 (GRCm39)	T106A	probably benign	Het
Slc22a14	A	G	9: 119,009,651 (GRCm39)	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,539,421 (GRCm39)	F375I	probably damaging	Het
Spata31d1e	A	G	13: 59,891,412 (GRCm39)	L136P	probably benign	Het
Sphkap	G	A	1: 83,254,221 (GRCm39)	T1176I	probably damaging	Het
Supt16	A	T	14: 52,419,046 (GRCm39)	V193D	probably damaging	Het
Sytl3	A	G	17: 6,995,690 (GRCm39)	T362A	probably damaging	Het
Tctn1	T	A	5: 122,384,674 (GRCm39)	Q410L	probably benign	Het
Trbc2	T	C	6: 41,524,711 (GRCm39)	Y133H		Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,832,843 (GRCm39)	V112A	probably benign	Het
Zfp354b	A	T	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp362	T	C	4: 128,668,399 (GRCm39)	H391R	probably damaging	Het

Other mutations in Sorbs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Sorbs3	APN	14	70,428,604 (GRCm39)	missense	probably damaging	1.00
IGL01144:Sorbs3	APN	14	70,429,017 (GRCm39)	missense	probably benign	0.04
IGL01155:Sorbs3	APN	14	70,436,790 (GRCm39)	missense	probably damaging	1.00
IGL01465:Sorbs3	APN	14	70,432,958 (GRCm39)	splice site	probably benign
IGL02184:Sorbs3	APN	14	70,421,455 (GRCm39)	critical splice donor site	probably null
R0544:Sorbs3	UTSW	14	70,431,375 (GRCm39)	missense	probably benign	0.01
R0882:Sorbs3	UTSW	14	70,445,021 (GRCm39)	missense	probably damaging	1.00
R1445:Sorbs3	UTSW	14	70,431,095 (GRCm39)	missense	probably benign	0.12
R1493:Sorbs3	UTSW	14	70,430,076 (GRCm39)	missense	possibly damaging	0.71
R1505:Sorbs3	UTSW	14	70,428,251 (GRCm39)	nonsense	probably null
R1671:Sorbs3	UTSW	14	70,428,915 (GRCm39)	missense	possibly damaging	0.92
R2184:Sorbs3	UTSW	14	70,428,880 (GRCm39)	critical splice donor site	probably null
R3804:Sorbs3	UTSW	14	70,436,800 (GRCm39)	splice site	probably benign
R4527:Sorbs3	UTSW	14	70,445,066 (GRCm39)	missense	probably damaging	1.00
R4755:Sorbs3	UTSW	14	70,421,548 (GRCm39)	missense	probably benign	0.00
R4926:Sorbs3	UTSW	14	70,424,394 (GRCm39)	missense	probably damaging	1.00
R5257:Sorbs3	UTSW	14	70,422,483 (GRCm39)	missense	probably benign	0.00
R5304:Sorbs3	UTSW	14	70,422,345 (GRCm39)	nonsense	probably null
R5328:Sorbs3	UTSW	14	70,418,623 (GRCm39)	missense	probably damaging	1.00
R5684:Sorbs3	UTSW	14	70,418,671 (GRCm39)	missense	probably damaging	1.00
R5988:Sorbs3	UTSW	14	70,440,752 (GRCm39)	missense	probably benign	0.03
R6106:Sorbs3	UTSW	14	70,430,053 (GRCm39)	splice site	probably null
R7207:Sorbs3	UTSW	14	70,438,934 (GRCm39)	missense	probably damaging	1.00
R7562:Sorbs3	UTSW	14	70,444,976 (GRCm39)	missense	probably benign	0.00
R7831:Sorbs3	UTSW	14	70,440,481 (GRCm39)	missense	possibly damaging	0.93
R7893:Sorbs3	UTSW	14	70,431,365 (GRCm39)	missense	probably benign	0.35
R8393:Sorbs3	UTSW	14	70,422,360 (GRCm39)	missense	probably benign	0.11
R8858:Sorbs3	UTSW	14	70,438,850 (GRCm39)	missense	probably damaging	1.00
R9092:Sorbs3	UTSW	14	70,445,004 (GRCm39)	missense	probably benign	0.30
R9442:Sorbs3	UTSW	14	70,424,387 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCTTTCTCAAGATCTGCAGG -3'
(R):5'- GACAGTCTGAAGGAAGCTCC -3'

Sequencing Primer
(F):5'- GGATCACAGAGAACCCTAAGCTG -3'
(R):5'- TCCGAAACTTCCCCAGGAGG -3'

Posted On

2020-10-20