Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01734:Ubash3b'

105643

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubash3b

Ensembl Gene

ENSMUSG00000032020

Gene Name

ubiquitin associated and SH3 domain containing, B

Synonyms

2810457I06Rik, TULA-2

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

IGL01734

Quality Score

Status

Chromosome

Chromosomal Location

41011098-41161697 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 41026247 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044155] [ENSMUST00000151485]

Predicted Effect

probably benign
Transcript: ENSMUST00000044155

SMART Domains

Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020

Domain	Start	End	E-Value	Type
UBA	26	64	2.43e-4	SMART
low complexity region	177	186	N/A	INTRINSIC
SH3	246	307	7.29e-10	SMART
Pfam:His_Phos_1	415	598	3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151485

SMART Domains

Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020

Domain	Start	End	E-Value	Type
low complexity region	55	64	N/A	INTRINSIC
SH3	124	185	7.29e-10	SMART
Pfam:His_Phos_1	252	450	1.9e-27	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, developmentally normal, and do not display any obvious phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932442E05Rik	T	A	10: 118,861,466	W210R	possibly damaging	Het
Aknad1	T	C	3: 108,751,901	M77T	probably benign	Het
Aox2	A	T	1: 58,354,310	I1210F	possibly damaging	Het
Brd8	A	T	18: 34,614,805		probably benign	Het
Cdh23	T	C	10: 60,303,513	D3307G	probably benign	Het
Chsy1	T	C	7: 66,171,310	I431T	probably damaging	Het
Cobl	A	G	11: 12,254,980		probably benign	Het
Col28a1	T	C	6: 8,158,134	D308G	probably damaging	Het
Csmd3	A	G	15: 48,185,304	Y568H	probably damaging	Het
Dmrt3	T	C	19: 25,622,583	I264T	probably damaging	Het
Dusp22	G	T	13: 30,696,252	C52F	probably damaging	Het
Fbxw22	A	C	9: 109,383,925	M318R	probably damaging	Het
Ffar4	C	T	19: 38,113,847	T310M	probably damaging	Het
Fn1	A	G	1: 71,619,485	V1138A	probably damaging	Het
Glt6d1	T	A	2: 25,794,493	Y167F	probably benign	Het
Hydin	T	A	8: 110,490,789	Y1436*	probably null	Het
Il12a	G	A	3: 68,691,555	C2Y	possibly damaging	Het
Inpp5a	T	C	7: 139,454,090	Y38H	possibly damaging	Het
Jmy	A	C	13: 93,459,651	L490R	probably damaging	Het
Kif26a	T	A	12: 112,176,828	L1172H	probably benign	Het
Kmo	A	T	1: 175,655,102	M331L	probably benign	Het
Lonp1	G	A	17: 56,616,026	T627M	probably damaging	Het
Lrrc41	T	C	4: 116,093,134		probably null	Het
Mast4	A	T	13: 102,737,615	S1556R	probably damaging	Het
Mmel1	A	G	4: 154,891,951	N490S	probably benign	Het
Mpped2	A	G	2: 106,783,813	D164G	probably damaging	Het
Nap1l1	A	G	10: 111,492,899	T230A	probably benign	Het
Nrap	C	A	19: 56,350,309	A913S	probably damaging	Het
Nudt16	G	T	9: 105,131,508	Q65K	probably benign	Het
Olfr1039	T	A	2: 86,131,668		probably benign	Het
Olfr199	T	G	16: 59,216,429	L61F	probably benign	Het
Olfr201	T	A	16: 59,268,850	K272N	probably benign	Het
Olfr382	C	A	11: 73,516,636	A188S	probably benign	Het
Olfr813	T	A	10: 129,856,802	C95S	probably benign	Het
Parp14	A	G	16: 35,858,600	F333L	probably benign	Het
Pi4ka	G	T	16: 17,297,260	Q1422K	probably benign	Het
Polr3c	T	C	3: 96,713,520	E494G	probably damaging	Het
Prss42	C	A	9: 110,798,343	P49Q	probably benign	Het
Ptpra	C	T	2: 130,544,077	T568I	probably damaging	Het
Ring1	T	C	17: 34,023,320	D71G	probably damaging	Het
Siae	T	A	9: 37,631,486	S193T	probably damaging	Het
Slf2	T	C	19: 44,973,267		probably null	Het
Spinkl	T	A	18: 44,174,572	K7N	possibly damaging	Het
Tbk1	G	A	10: 121,571,983	R82*	probably null	Het
Tcf12	T	C	9: 71,922,648		probably null	Het
Tcl1b5	G	A	12: 105,178,955	M59I	probably benign	Het
Thumpd3	C	A	6: 113,066,845	T407K	probably damaging	Het
Timm29	T	C	9: 21,593,735	V233A	probably damaging	Het
Tns3	A	G	11: 8,519,192		probably benign	Het
Ugdh	G	T	5: 65,422,688	T253K	probably benign	Het
Zfp143	T	A	7: 110,072,209		probably benign	Het
Zfp738	A	G	13: 67,683,444		probably benign	Het

Other mutations in Ubash3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Ubash3b	APN	9	41018015	critical splice donor site	probably null
IGL02311:Ubash3b	APN	9	41047037	missense	probably benign
IGL03406:Ubash3b	APN	9	41037479	missense	probably damaging	1.00
PIT4618001:Ubash3b	UTSW	9	41016627	missense	probably benign	0.00
PIT4687001:Ubash3b	UTSW	9	41023518	missense	probably damaging	1.00
R0524:Ubash3b	UTSW	9	41016608	missense	probably benign	0.16
R0666:Ubash3b	UTSW	9	41047064	missense	possibly damaging	0.67
R0927:Ubash3b	UTSW	9	41023557	nonsense	probably null
R1112:Ubash3b	UTSW	9	41028116	missense	probably damaging	1.00
R1544:Ubash3b	UTSW	9	41016605	missense	probably damaging	1.00
R1596:Ubash3b	UTSW	9	41031497	missense	probably benign
R1610:Ubash3b	UTSW	9	41043500	missense	probably damaging	1.00
R2069:Ubash3b	UTSW	9	41043573	missense	possibly damaging	0.82
R2507:Ubash3b	UTSW	9	41157354	missense	possibly damaging	0.90
R2520:Ubash3b	UTSW	9	41014947	missense	probably damaging	1.00
R3899:Ubash3b	UTSW	9	41031564	missense	probably benign	0.00
R3900:Ubash3b	UTSW	9	41031564	missense	probably benign	0.00
R4715:Ubash3b	UTSW	9	41016600	missense	probably damaging	1.00
R4876:Ubash3b	UTSW	9	41018109	missense	probably benign	0.00
R5023:Ubash3b	UTSW	9	41037459	missense	possibly damaging	0.90
R5034:Ubash3b	UTSW	9	41029740	missense	probably benign	0.25
R5057:Ubash3b	UTSW	9	41037459	missense	possibly damaging	0.90
R5396:Ubash3b	UTSW	9	41043473	critical splice donor site	probably null
R5448:Ubash3b	UTSW	9	41037435	critical splice donor site	probably null
R5760:Ubash3b	UTSW	9	41077423	missense	probably benign	0.00
R6178:Ubash3b	UTSW	9	41014916	missense	probably damaging	0.96
R6392:Ubash3b	UTSW	9	41014972	missense	probably damaging	1.00

Posted On

2014-01-21