Mutagenetix > Incidental Mutation

Incidental Mutation 'R1493:Sorbs3'

165580

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

039544-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1493 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

70417917-70449438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70430076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 353 (T353A)

Ref Sequence

ENSEMBL: ENSMUSP00000154773 (fasta)

Gene Model

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

AlphaFold

Q9R1Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000022682
AA Change: T353A

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022682
Gene: ENSMUSG00000022091
AA Change: T353A

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: T300A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000227653
AA Change: T300A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227929
AA Change: T353A

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Abca15	A	T	7: 119,981,513 (GRCm39)	D989V	probably benign	Het
Abcg8	T	C	17: 85,004,107 (GRCm39)	S472P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
Adprm	A	G	11: 66,932,702 (GRCm39)	V69A	possibly damaging	Het
Ankrd27	C	T	7: 35,307,790 (GRCm39)	S343L	probably benign	Het
Arfgef3	A	G	10: 18,506,627 (GRCm39)	S833P	probably damaging	Het
Arhgap42	T	G	9: 9,030,798 (GRCm39)	E339D	probably benign	Het
Axdnd1	T	A	1: 156,174,271 (GRCm39)	M799L	probably benign	Het
Cars2	A	T	8: 11,567,817 (GRCm39)		probably null	Het
Cd7	T	C	11: 120,928,967 (GRCm39)	T95A	probably damaging	Het
Cep290	A	T	10: 100,398,043 (GRCm39)	T2200S	probably benign	Het
Cep44	A	G	8: 56,985,870 (GRCm39)	S299P	probably damaging	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Ehbp1	T	A	11: 21,956,866 (GRCm39)	E1204V	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm4559	A	T	7: 141,828,050 (GRCm39)	C17*	probably null	Het
Helz	A	G	11: 107,504,751 (GRCm39)	I413V	probably benign	Het
Hexd	A	G	11: 121,112,093 (GRCm39)	I438V	probably benign	Het
Hrh1	G	A	6: 114,457,838 (GRCm39)	G373D	probably damaging	Het
Hs3st5	G	A	10: 36,708,870 (GRCm39)	G135D	probably damaging	Het
Iqcf6	T	C	9: 106,504,641 (GRCm39)	Y102H	probably benign	Het
Kmt2a	A	T	9: 44,758,202 (GRCm39)	S1124R	probably damaging	Het
Map3k5	A	G	10: 19,904,859 (GRCm39)	D387G	probably damaging	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Musk	C	T	4: 58,354,003 (GRCm39)	A352V	probably benign	Het
Myef2l	A	G	3: 10,153,944 (GRCm39)	K238E	probably damaging	Het
Nans	G	A	4: 46,500,761 (GRCm39)	E218K	probably damaging	Het
Niban1	T	A	1: 151,581,841 (GRCm39)	V479D	probably damaging	Het
Ninl	T	G	2: 150,822,015 (GRCm39)	D29A	probably damaging	Het
Nod1	A	G	6: 54,921,041 (GRCm39)	F426L	probably damaging	Het
Notch4	T	A	17: 34,786,656 (GRCm39)	C265*	probably null	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or51h1	T	C	7: 102,308,220 (GRCm39)	L64P	probably damaging	Het
Or52e18	T	A	7: 104,609,709 (GRCm39)	T77S	probably damaging	Het
Orai3	G	A	7: 127,373,077 (GRCm39)	V193M	possibly damaging	Het
Prkag1	T	C	15: 98,711,551 (GRCm39)	Y271C	probably benign	Het
Rfc4	T	C	16: 22,936,758 (GRCm39)	I116V	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Rnmt	G	A	18: 68,446,778 (GRCm39)	D268N	probably damaging	Het
Rsph1	C	T	17: 31,484,873 (GRCm39)	G139D	probably damaging	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sgo2b	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Shmt2	A	G	10: 127,354,812 (GRCm39)		probably null	Het
Stk25	T	C	1: 93,553,322 (GRCm39)	T260A	probably benign	Het
Tasor	A	G	14: 27,171,926 (GRCm39)	S425G	probably damaging	Het
Thap12	A	G	7: 98,364,645 (GRCm39)	H271R	probably benign	Het
Tmprss13	A	G	9: 45,247,405 (GRCm39)	T256A	probably benign	Het
Tpo	A	T	12: 30,181,808 (GRCm39)	I29N	possibly damaging	Het
Trpc2	A	T	7: 101,739,783 (GRCm39)	N569I	probably damaging	Het
Unc13c	T	C	9: 73,546,350 (GRCm39)	T1607A	probably benign	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het
Vps18	A	G	2: 119,127,613 (GRCm39)	Y812C	probably damaging	Het
Zfp692	A	T	11: 58,204,866 (GRCm39)	I409F	probably damaging	Het
Zfp735	G	A	11: 73,601,305 (GRCm39)	C83Y	possibly damaging	Het
Zic1	A	G	9: 91,246,809 (GRCm39)	S88P	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
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
R8508:Sorbs3	UTSW	14	70,440,396 (GRCm39)	missense	probably benign	0.04
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'- GAGCCGATACACTGAACCAGAGTTG -3'
(R):5'- ACAGGAATGAGGTGTCACCTTCCC -3'

Sequencing Primer
(F):5'- GCCAGGAAGGGTTCTCAG -3'
(R):5'- ATGACTACAGGCATCAGGC -3'

Posted On

2014-03-28