Mutagenetix > Incidental Mutation

Incidental Mutation 'R7207:Sorbs3'

560721

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7207 (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 C at 70438934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 142 (K142R)

Ref Sequence

ENSEMBL: ENSMUSP00000022682 (fasta)

Gene Model

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

AlphaFold

Q9R1Z8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022682
AA Change: K142R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022682
Gene: ENSMUSG00000022091
AA Change: K142R

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 damaging
Transcript: ENSMUST00000227259
AA Change: K89R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227653
AA Change: K89R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227929
AA Change: K142R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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.] 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,527,734 (GRCm39)	Y1019H	probably benign	Het
Adam11	C	A	11: 102,662,883 (GRCm39)	A212D	probably benign	Het
Adamts13	C	A	2: 26,868,707 (GRCm39)	H230Q	probably damaging	Het
Adgrl3	G	A	5: 81,457,874 (GRCm39)	M1I	probably null	Het
Agap1	A	T	1: 89,770,821 (GRCm39)	H657L	possibly damaging	Het
Ano3	T	C	2: 110,611,768 (GRCm39)	D238G	probably damaging	Het
Atp8b5	A	T	4: 43,357,018 (GRCm39)	I589F	probably damaging	Het
Bmp1	C	T	14: 70,717,000 (GRCm39)	A859T	possibly damaging	Het
Cdh20	C	A	1: 104,921,702 (GRCm39)	D666E	probably damaging	Het
Cep135	T	G	5: 76,780,090 (GRCm39)	D807E	probably benign	Het
Cldn13	G	A	5: 134,943,766 (GRCm39)	H140Y	probably benign	Het
Cnksr1	G	T	4: 133,962,434 (GRCm39)	Q155K	possibly damaging	Het
Col1a1	G	A	11: 94,829,352 (GRCm39)	R121Q	unknown	Het
Coro6	G	A	11: 77,358,089 (GRCm39)	A225T	possibly damaging	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Dhrs7b	C	A	11: 60,746,623 (GRCm39)	Y237*	probably null	Het
Dnah3	A	G	7: 119,570,312 (GRCm39)	F2303L	probably damaging	Het
Dsg2	T	A	18: 20,734,516 (GRCm39)	D831E	probably damaging	Het
Dst	T	C	1: 34,202,418 (GRCm39)	S575P	probably damaging	Het
Epg5	T	C	18: 77,992,170 (GRCm39)	L289P	probably damaging	Het
Etl4	A	G	2: 20,714,387 (GRCm39)	N162S	probably damaging	Het
Fbf1	A	T	11: 116,040,300 (GRCm39)	Y602N	probably benign	Het
Fgd4	A	T	16: 16,302,420 (GRCm39)	M45K	probably benign	Het
Fryl	C	T	5: 73,222,438 (GRCm39)	V2048I	probably benign	Het
Gulp1	T	C	1: 44,805,292 (GRCm39)	V127A	possibly damaging	Het
H2-DMb1	T	A	17: 34,376,490 (GRCm39)	I203N	probably damaging	Het
Harbi1	T	C	2: 91,542,790 (GRCm39)	S84P	probably damaging	Het
Hrh2	T	C	13: 54,368,266 (GRCm39)	S81P	possibly damaging	Het
Iars1	T	C	13: 49,841,791 (GRCm39)		probably null	Het
Kcnma1	T	C	14: 23,359,083 (GRCm39)	*1087W	probably null	Het
Lama5	T	A	2: 179,848,877 (GRCm39)	N241I	probably damaging	Het
Lig4	T	A	8: 10,022,101 (GRCm39)	K560*	probably null	Het
Lpin3	G	T	2: 160,735,923 (GRCm39)	E68*	probably null	Het
Mrtfb	A	T	16: 13,144,300 (GRCm39)	I7L	probably benign	Het
Msrb3	A	T	10: 120,627,305 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,416,602 (GRCm39)	T3183A	probably benign	Het
Mx1	T	A	16: 97,253,398 (GRCm39)	D342V	probably benign	Het
Nrap	G	T	19: 56,333,953 (GRCm39)	T1003K	probably damaging	Het
Or8u10	A	G	2: 85,915,159 (GRCm39)	S321P	possibly damaging	Het
Plxna2	C	T	1: 194,326,327 (GRCm39)	P87L	probably damaging	Het
Pms2	C	T	5: 143,850,452 (GRCm39)	T89I	probably damaging	Het
Ppp1r12c	C	A	7: 4,492,867 (GRCm39)	R203L	probably damaging	Het
Pramel31	A	G	4: 144,088,473 (GRCm39)	T90A	probably benign	Het
Rab44	C	T	17: 29,357,013 (GRCm39)	Q48*	probably null	Het
Rgs14	T	C	13: 55,531,047 (GRCm39)	V417A	probably benign	Het
Sgms1	T	A	19: 32,120,147 (GRCm39)	K253M	probably null	Het
Sidt2	T	C	9: 45,856,449 (GRCm39)	Y492C	probably damaging	Het
Slco1a5	G	T	6: 142,194,475 (GRCm39)	Y389*	probably null	Het
Slfn14	G	A	11: 83,170,214 (GRCm39)	Q477*	probably null	Het
Sphk1	A	T	11: 116,426,590 (GRCm39)	D182V	probably damaging	Het
Srsf9	C	G	5: 115,465,481 (GRCm39)	Y38*	probably null	Het
Stk40	A	C	4: 126,019,547 (GRCm39)	E107A	probably damaging	Het
Syngr4	T	C	7: 45,538,101 (GRCm39)	Y89C	possibly damaging	Het
Tead1	G	A	7: 112,441,287 (GRCm39)	R109H	possibly damaging	Het
Thra	A	G	11: 98,651,802 (GRCm39)	Q108R	probably damaging	Het
Tnni3k	G	A	3: 154,580,782 (GRCm39)	T621I	probably damaging	Het
Trim3	A	C	7: 105,262,583 (GRCm39)	V525G	possibly damaging	Het
Usp49	T	C	17: 47,989,802 (GRCm39)	V529A	probably benign	Het
Vill	A	T	9: 118,900,281 (GRCm39)	Q849L	possibly damaging	Het
Vps36	T	A	8: 22,701,623 (GRCm39)	S237T	probably benign	Het
Zar1l	A	T	5: 150,430,558 (GRCm39)	C284*	probably null	Het
Zfp948	T	C	17: 21,808,602 (GRCm39)	V598A	possibly damaging	Het
Zfp952	T	C	17: 33,222,489 (GRCm39)	Y323H	possibly 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
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'- GCCCTTAAAGTGGTGGCTTTC -3'
(R):5'- GGAGTCCACATCATCCAGTC -3'

Sequencing Primer
(F):5'- TATACTCCTAGAGATAGAGCTTGGG -3'
(R):5'- ACATCATCCAGTCTAATAAGGAGG -3'

Posted On

2019-06-26