Mutagenetix > Incidental Mutation

Incidental Mutation 'R8393:Sorbs3'

647489

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

067811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70417917-70449438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70422360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 617 (T617S)

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: T617S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022682
Gene: ENSMUSG00000022091
AA Change: T617S

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: T564S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000227653
AA Change: T564S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000227929
AA Change: T617S

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,617,390 (GRCm39)	T239A	probably benign	Het
Adgrg7	A	G	16: 56,582,477 (GRCm39)	S258P	probably damaging	Het
Capn10	T	A	1: 92,871,130 (GRCm39)	D313E	probably benign	Het
Caprin2	A	G	6: 148,770,650 (GRCm39)	V448A	probably benign	Het
Casr	A	G	16: 36,330,566 (GRCm39)	V256A	probably benign	Het
Cped1	A	G	6: 22,222,465 (GRCm39)	T742A	possibly damaging	Het
Cyp2c39	G	T	19: 39,525,255 (GRCm39)	R186L	possibly damaging	Het
Dazl	A	T	17: 50,588,294 (GRCm39)	S294T	probably benign	Het
Dnah17	C	A	11: 117,947,855 (GRCm39)	V2982F	probably damaging	Het
Enpp3	C	A	10: 24,702,139 (GRCm39)	C71F	probably damaging	Het
Fam234a	A	G	17: 26,437,149 (GRCm39)	C177R	probably damaging	Het
Fbxl5	A	C	5: 43,925,433 (GRCm39)	Y186D	possibly damaging	Het
Fbxo43	T	C	15: 36,162,494 (GRCm39)	T238A	probably benign	Het
Fcgbp	A	G	7: 27,806,815 (GRCm39)	H2261R	probably benign	Het
Gm20939	C	T	17: 95,183,207 (GRCm39)	H148Y	probably damaging	Het
Gpat4	GTGTT	GT	8: 23,669,498 (GRCm39)		probably benign	Het
Gpr45	C	A	1: 43,071,395 (GRCm39)	H13N	probably benign	Het
Irf4	A	G	13: 30,947,610 (GRCm39)	D438G	probably damaging	Het
Kcnk1	T	C	8: 126,751,964 (GRCm39)	V190A	probably benign	Het
Klre1	A	T	6: 129,557,025 (GRCm39)	K42N	probably damaging	Het
Lmbrd2	C	T	15: 9,178,437 (GRCm39)	T499M	probably damaging	Het
Lrrc14	G	T	15: 76,598,398 (GRCm39)	G345C	probably damaging	Het
Matn2	A	G	15: 34,355,748 (GRCm39)	H251R	possibly damaging	Het
Mpnd	A	G	17: 56,323,568 (GRCm39)	E477G	probably damaging	Het
Muc17	C	T	5: 137,171,179 (GRCm39)	V151I		Het
Nckap5l	A	C	15: 99,325,050 (GRCm39)	C484W	probably damaging	Het
Npas1	C	T	7: 16,195,266 (GRCm39)	S354N	probably damaging	Het
Or1e25	T	C	11: 73,494,261 (GRCm39)	L285P	probably damaging	Het
Or4k2	C	A	14: 50,424,342 (GRCm39)	E112*	probably null	Het
Or52ab2	A	T	7: 102,969,668 (GRCm39)	I17F		Het
Or52e3	T	C	7: 102,869,399 (GRCm39)	V158A	probably benign	Het
Or5w11	T	C	2: 87,459,197 (GRCm39)	L14P	probably damaging	Het
Or6c65	G	T	10: 129,604,304 (GRCm39)	*313L	probably null	Het
Or8d4	T	A	9: 40,038,360 (GRCm39)	H299L	probably benign	Het
Pabpc6	G	A	17: 9,887,435 (GRCm39)	P372L	probably damaging	Het
Pkd1	A	G	17: 24,791,621 (GRCm39)	N1103D	probably damaging	Het
Prelid2	C	T	18: 42,014,313 (GRCm39)	C171Y	probably benign	Het
R3hcc1	T	C	14: 69,942,890 (GRCm39)	Q229R	probably benign	Het
Rapgef6	T	C	11: 54,578,487 (GRCm39)	V1003A	probably benign	Het
Rbp3	T	A	14: 33,678,156 (GRCm39)	H701Q	possibly damaging	Het
Resf1	A	T	6: 149,229,998 (GRCm39)	T1015S	possibly damaging	Het
Rmdn2	T	C	17: 79,975,459 (GRCm39)		probably null	Het
Robo2	A	T	16: 73,775,382 (GRCm39)	W451R	probably damaging	Het
Sacs	T	A	14: 61,410,655 (GRCm39)	M1K	probably null	Het
Senp2	G	A	16: 21,850,864 (GRCm39)	G294R	probably damaging	Het
Setdb2	T	A	14: 59,650,180 (GRCm39)	H478L	probably benign	Het
Slc12a4	G	T	8: 106,678,451 (GRCm39)	A295E	probably damaging	Het
Slc12a9	C	T	5: 137,319,698 (GRCm39)	V606M	probably damaging	Het
Slc25a30	T	C	14: 76,012,451 (GRCm39)	K66E	probably benign	Het
Slc39a6	T	C	18: 24,732,331 (GRCm39)	E319G	possibly damaging	Het
Speer4a3	A	T	5: 26,158,076 (GRCm39)	V92E	probably damaging	Het
Spef2	T	G	15: 9,676,615 (GRCm39)	D652A	probably benign	Het
Stag3	T	C	5: 138,295,017 (GRCm39)	M347T	probably damaging	Het
Tecpr2	A	T	12: 110,911,191 (GRCm39)	D1076V	probably damaging	Het
Tor2a	G	A	2: 32,651,648 (GRCm39)	V288I	probably benign	Het
Usp30	C	T	5: 114,259,826 (GRCm39)	R511*	probably null	Het
Vezt	T	C	10: 93,832,704 (GRCm39)	T236A	probably damaging	Het
Zmynd12	A	T	4: 119,305,352 (GRCm39)	D264V	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
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'- TAAGTTCTGCCGAGCTTCCC -3'
(R):5'- GAGAACGCATCTGCCTGATC -3'

Sequencing Primer
(F):5'- TGGACCAGTCAGAGGATA -3'
(R):5'- ATCTGCCTGATCCGCAAG -3'

Posted On

2020-09-02