Mutagenetix > Incidental Mutation

Incidental Mutation 'R5328:Sorbs3'

422172

Institutional Source

Beutler Lab

Gene Symbol

Sorbs3

Ensembl Gene

ENSMUSG00000022091

Gene Name

sorbin and SH3 domain containing 3

Synonyms

SH3P3, Sh3d4, vinexin beta, vinexin alpha

MMRRC Submission

042843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5328 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70180468-70211989 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70181174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 680 (V680E)

Ref Sequence

ENSEMBL: ENSMUSP00000154195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022681] [ENSMUST00000022682] [ENSMUST00000153735] [ENSMUST00000227259] [ENSMUST00000227653] [ENSMUST00000227929]

AlphaFold

Q9R1Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000022681

SMART Domains

Protein: ENSMUSP00000022681
Gene: ENSMUSG00000022090

Domain	Start	End	E-Value	Type
PDZ	11	84	3.41e-17	SMART
low complexity region	129	144	N/A	INTRINSIC
Pfam:DUF4749	169	256	4.4e-12	PFAM
low complexity region	259	271	N/A	INTRINSIC
LIM	282	334	1.25e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000022682
AA Change: V733E

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

SMART Domains

Protein: ENSMUSP00000022682
Gene: ENSMUSG00000022091
AA Change: V733E

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

noncoding transcript
Transcript: ENSMUST00000141363

Predicted Effect

probably benign
Transcript: ENSMUST00000153735

SMART Domains

Protein: ENSMUSP00000116200
Gene: ENSMUSG00000022090

Domain	Start	End	E-Value	Type
PDZ	11	84	3.41e-17	SMART
low complexity region	129	144	N/A	INTRINSIC
low complexity region	199	210	N/A	INTRINSIC
low complexity region	241	250	N/A	INTRINSIC
low complexity region	259	271	N/A	INTRINSIC
LIM	282	334	1.25e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000227259
AA Change: V680E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227653
AA Change: V680E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227929

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,837,694	V860E	possibly damaging	Het
Abcc6	T	C	7: 45,992,311	D881G	probably benign	Het
Abcc9	A	G	6: 142,682,059	V415A	probably benign	Het
Adgrb3	A	C	1: 25,094,275	N1003K	possibly damaging	Het
Adora3	C	T	3: 105,907,303	T123I	probably benign	Het
Amotl2	A	C	9: 102,723,768	T345P	probably benign	Het
Arap3	C	T	18: 37,991,687	E247K	possibly damaging	Het
Atp8b1	A	T	18: 64,531,391	D1235E	probably benign	Het
Axl	A	T	7: 25,773,411	V400E	probably damaging	Het
Brd8	T	A	18: 34,607,981	N431Y	probably benign	Het
Cadps	A	T	14: 12,457,790	N1025K	probably benign	Het
Cblc	A	T	7: 19,792,580	S195T	possibly damaging	Het
Chd2	C	T	7: 73,463,681	A1184T	possibly damaging	Het
Chst10	G	A	1: 38,895,962		probably benign	Het
Col12a1	T	C	9: 79,620,060	K2663E	probably damaging	Het
Cspg4	A	T	9: 56,885,856	I292L	probably benign	Het
Cul1	T	C	6: 47,508,317	V294A	probably damaging	Het
Cyp2d11	G	A	15: 82,391,771	P203L	probably benign	Het
Dscam	T	C	16: 96,673,678	H1228R	probably benign	Het
Eif3l	A	T	15: 79,093,361	K534*	probably null	Het
Enpep	T	C	3: 129,280,510	E796G	probably benign	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fam117a	T	A	11: 95,364,170		probably null	Het
Fan1	A	T	7: 64,354,469	Y750N	probably damaging	Het
Fat4	T	A	3: 38,956,868	I2039N	probably damaging	Het
Gabrr2	G	T	4: 33,082,565	D106Y	probably damaging	Het
Gak	A	C	5: 108,617,001	C145G	possibly damaging	Het
Galnt14	A	T	17: 73,505,459	N406K	possibly damaging	Het
Gm10439	T	G	X: 149,636,163	*434E	probably null	Het
Gm10837	G	T	14: 122,490,778	R22L	unknown	Het
Gm19965	T	A	1: 116,821,418	H276Q	possibly damaging	Het
Gm43517	T	C	12: 49,391,156		probably benign	Het
Gm9733	T	C	3: 15,332,174	M17V	unknown	Het
Greb1l	A	T	18: 10,553,720	I1574F	probably damaging	Het
Gzme	G	A	14: 56,117,767	H236Y	probably benign	Het
Heatr5b	G	A	17: 78,826,362	T266I	possibly damaging	Het
Hk3	T	C	13: 55,013,493	I185V	probably benign	Het
Hnrnpr	A	G	4: 136,339,216	E302G	probably benign	Het
Itgal	T	C	7: 127,311,675		probably null	Het
Itk	A	G	11: 46,331,876	S583P	probably benign	Het
Loxhd1	A	T	18: 77,410,572	I1448F	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,350,991		probably null	Het
Man2a2	A	T	7: 80,368,756	F118L	probably benign	Het
Mfsd5	T	A	15: 102,281,012	V273E	probably damaging	Het
Nfe2l2	A	G	2: 75,676,856	L300P	probably damaging	Het
Nt5c1a	T	G	4: 123,208,993	L122R	possibly damaging	Het
Nt5c3b	A	G	11: 100,440,241	F42S	probably damaging	Het
Olfr332	C	A	11: 58,490,429	A109S	possibly damaging	Het
Olfr577	T	A	7: 102,973,968	N8I	possibly damaging	Het
Pabpc1	A	T	15: 36,602,877	D204E	probably benign	Het
Panx2	A	G	15: 89,068,095	N255S	probably damaging	Het
Pcnt	A	G	10: 76,411,719	L993P	probably damaging	Het
Pfas	A	T	11: 68,988,592	C1160S	probably damaging	Het
Plekhh3	T	A	11: 101,167,658		probably benign	Het
Plod3	T	A	5: 136,989,683	N258K	probably damaging	Het
Prr14l	T	C	5: 32,830,021	Q710R	probably benign	Het
Rnf216	G	T	5: 143,092,999	T65K	possibly damaging	Het
Samd9l	T	C	6: 3,376,739	E174G	probably damaging	Het
Sept12	T	A	16: 4,993,993	M63L	possibly damaging	Het
Sh3bgrl2	T	A	9: 83,577,456	D22E	probably benign	Het
Skil	A	G	3: 31,117,569	K488R	probably benign	Het
Slamf6	T	A	1: 171,938,095	I262K	probably benign	Het
Slc27a3	T	C	3: 90,386,832	D470G	probably damaging	Het
Sox9	C	T	11: 112,782,658	T25I	probably benign	Het
Srsf1	G	T	11: 88,049,993		probably benign	Het
Stard9	A	C	2: 120,699,230	E1989D	probably damaging	Het
Thumpd2	T	A	17: 81,044,162	I277F	possibly damaging	Het
Tinag	C	A	9: 77,005,631	G299*	probably null	Het
Tk2	A	T	8: 104,229,299		probably null	Het
Tmem44	A	G	16: 30,540,891	S210P	possibly damaging	Het
Traf3ip1	C	A	1: 91,520,069	P423T	probably damaging	Het
Trmt12	A	G	15: 58,872,855	D34G	probably damaging	Het
Ttc39b	A	G	4: 83,261,941	Y72H	probably damaging	Het
Ttn	G	A	2: 76,878,411		probably benign	Het
Ttyh2	T	A	11: 114,710,068	I381N	possibly damaging	Het
Uaca	A	T	9: 60,870,532	N734Y	probably benign	Het
Usp34	T	C	11: 23,464,616	I2853T	probably benign	Het
Usp34	G	A	11: 23,488,659	G3407D	probably benign	Het
Vmn2r78	A	G	7: 86,921,030	Y252C	probably damaging	Het
Wdr19	G	A	5: 65,244,179	C979Y	probably damaging	Het
Wdr92	C	A	11: 17,222,220	P103Q	probably damaging	Het
Yeats2	A	T	16: 20,171,205	H277L	probably damaging	Het
Zbtb2	T	C	10: 4,369,267	Y253C	possibly damaging	Het
Zfat	C	A	15: 68,179,828	G706C	probably damaging	Het
Zfp106	A	T	2: 120,520,417	N1584K	possibly damaging	Het

Other mutations in Sorbs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Sorbs3	APN	14	70191155	missense	probably damaging	1.00
IGL01144:Sorbs3	APN	14	70191568	missense	probably benign	0.04
IGL01155:Sorbs3	APN	14	70199341	missense	probably damaging	1.00
IGL01465:Sorbs3	APN	14	70195509	splice site	probably benign
IGL02184:Sorbs3	APN	14	70184006	critical splice donor site	probably null
R0544:Sorbs3	UTSW	14	70193926	missense	probably benign	0.01
R0882:Sorbs3	UTSW	14	70207572	missense	probably damaging	1.00
R1445:Sorbs3	UTSW	14	70193646	missense	probably benign	0.12
R1493:Sorbs3	UTSW	14	70192627	missense	possibly damaging	0.71
R1505:Sorbs3	UTSW	14	70190802	nonsense	probably null
R1671:Sorbs3	UTSW	14	70191466	missense	possibly damaging	0.92
R2184:Sorbs3	UTSW	14	70191431	critical splice donor site	probably null
R3804:Sorbs3	UTSW	14	70199351	splice site	probably benign
R4527:Sorbs3	UTSW	14	70207617	missense	probably damaging	1.00
R4755:Sorbs3	UTSW	14	70184099	missense	probably benign	0.00
R4926:Sorbs3	UTSW	14	70186945	missense	probably damaging	1.00
R5257:Sorbs3	UTSW	14	70185034	missense	probably benign	0.00
R5304:Sorbs3	UTSW	14	70184896	nonsense	probably null
R5684:Sorbs3	UTSW	14	70181222	missense	probably damaging	1.00
R5988:Sorbs3	UTSW	14	70203303	missense	probably benign	0.03
R6106:Sorbs3	UTSW	14	70192604	splice site	probably null
R7207:Sorbs3	UTSW	14	70201485	missense	probably damaging	1.00
R7562:Sorbs3	UTSW	14	70207527	missense	probably benign	0.00
R7831:Sorbs3	UTSW	14	70203032	missense	possibly damaging	0.93
R7893:Sorbs3	UTSW	14	70193916	missense	probably benign	0.35
R8393:Sorbs3	UTSW	14	70184911	missense	probably benign	0.11
R8508:Sorbs3	UTSW	14	70202947	missense	probably benign	0.04
R8858:Sorbs3	UTSW	14	70201401	missense	probably damaging	1.00
R9092:Sorbs3	UTSW	14	70207555	missense	probably benign	0.30
R9442:Sorbs3	UTSW	14	70186938	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGTGGGAATCGGACTTCAAG -3'
(R):5'- CGGAGTTAGTGCTGTGCAAAG -3'

Sequencing Primer
(F):5'- ATCGGACTTCAAGGAGGCTTG -3'
(R):5'- AGAAGTGCAGCGTTGTTTGTACC -3'

Posted On

2016-08-04