Mutagenetix > Incidental Mutation

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

Sts-1, 2810457I06Rik, TULA-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

IGL01734

Quality Score

Status

Chromosome

Chromosomal Location

40922056-41069358 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 40937543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116038 (fasta)

Gene Model

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

AlphaFold

Q8BGG7

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: 118,697,371 (GRCm39)	W210R	possibly damaging	Het
Aknad1	T	C	3: 108,659,217 (GRCm39)	M77T	probably benign	Het
Aox1	A	T	1: 58,393,469 (GRCm39)	I1210F	possibly damaging	Het
Brd8	A	T	18: 34,747,858 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,139,292 (GRCm39)	D3307G	probably benign	Het
Chsy1	T	C	7: 65,821,058 (GRCm39)	I431T	probably damaging	Het
Cobl	A	G	11: 12,204,980 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,158,134 (GRCm39)	D308G	probably damaging	Het
Csmd3	A	G	15: 48,048,700 (GRCm39)	Y568H	probably damaging	Het
Dmrt3	T	C	19: 25,599,947 (GRCm39)	I264T	probably damaging	Het
Dusp22	G	T	13: 30,880,235 (GRCm39)	C52F	probably damaging	Het
Fbxw22	A	C	9: 109,212,993 (GRCm39)	M318R	probably damaging	Het
Ffar4	C	T	19: 38,102,295 (GRCm39)	T310M	probably damaging	Het
Fn1	A	G	1: 71,658,644 (GRCm39)	V1138A	probably damaging	Het
Glt6d1	T	A	2: 25,684,505 (GRCm39)	Y167F	probably benign	Het
Hydin	T	A	8: 111,217,421 (GRCm39)	Y1436*	probably null	Het
Il12a	G	A	3: 68,598,888 (GRCm39)	C2Y	possibly damaging	Het
Inpp5a	T	C	7: 139,034,006 (GRCm39)	Y38H	possibly damaging	Het
Jmy	A	C	13: 93,596,159 (GRCm39)	L490R	probably damaging	Het
Kif26a	T	A	12: 112,143,262 (GRCm39)	L1172H	probably benign	Het
Kmo	A	T	1: 175,482,668 (GRCm39)	M331L	probably benign	Het
Lonp1	G	A	17: 56,923,026 (GRCm39)	T627M	probably damaging	Het
Lrrc41	T	C	4: 115,950,331 (GRCm39)		probably null	Het
Mast4	A	T	13: 102,874,123 (GRCm39)	S1556R	probably damaging	Het
Mmel1	A	G	4: 154,976,408 (GRCm39)	N490S	probably benign	Het
Mpped2	A	G	2: 106,614,158 (GRCm39)	D164G	probably damaging	Het
Nap1l1	A	G	10: 111,328,760 (GRCm39)	T230A	probably benign	Het
Nrap	C	A	19: 56,338,741 (GRCm39)	A913S	probably damaging	Het
Nudt16	G	T	9: 105,008,707 (GRCm39)	Q65K	probably benign	Het
Or1e23	C	A	11: 73,407,462 (GRCm39)	A188S	probably benign	Het
Or5ac17	T	G	16: 59,036,792 (GRCm39)	L61F	probably benign	Het
Or5ac19	T	A	16: 59,089,213 (GRCm39)	K272N	probably benign	Het
Or5al5	T	A	2: 85,962,012 (GRCm39)		probably benign	Het
Or6c76b	T	A	10: 129,692,671 (GRCm39)	C95S	probably benign	Het
Parp14	A	G	16: 35,678,970 (GRCm39)	F333L	probably benign	Het
Pi4ka	G	T	16: 17,115,124 (GRCm39)	Q1422K	probably benign	Het
Polr3c	T	C	3: 96,620,836 (GRCm39)	E494G	probably damaging	Het
Prss42	C	A	9: 110,627,411 (GRCm39)	P49Q	probably benign	Het
Ptpra	C	T	2: 130,385,997 (GRCm39)	T568I	probably damaging	Het
Ring1	T	C	17: 34,242,294 (GRCm39)	D71G	probably damaging	Het
Siae	T	A	9: 37,542,782 (GRCm39)	S193T	probably damaging	Het
Slf2	T	C	19: 44,961,706 (GRCm39)		probably null	Het
Spinkl	T	A	18: 44,307,639 (GRCm39)	K7N	possibly damaging	Het
Tbk1	G	A	10: 121,407,888 (GRCm39)	R82*	probably null	Het
Tcf12	T	C	9: 71,829,930 (GRCm39)		probably null	Het
Tcl1b5	G	A	12: 105,145,214 (GRCm39)	M59I	probably benign	Het
Thumpd3	C	A	6: 113,043,806 (GRCm39)	T407K	probably damaging	Het
Timm29	T	C	9: 21,505,031 (GRCm39)	V233A	probably damaging	Het
Tns3	A	G	11: 8,469,192 (GRCm39)		probably benign	Het
Ugdh	G	T	5: 65,580,031 (GRCm39)	T253K	probably benign	Het
Zfp143	T	A	7: 109,671,416 (GRCm39)		probably benign	Het
Zfp738	A	G	13: 67,831,563 (GRCm39)		probably benign	Het

Other mutations in Ubash3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Ubash3b	APN	9	40,929,311 (GRCm39)	critical splice donor site	probably null
IGL02311:Ubash3b	APN	9	40,958,333 (GRCm39)	missense	probably benign
IGL03406:Ubash3b	APN	9	40,948,775 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Ubash3b	UTSW	9	40,927,923 (GRCm39)	missense	probably benign	0.00
PIT4687001:Ubash3b	UTSW	9	40,934,814 (GRCm39)	missense	probably damaging	1.00
R0524:Ubash3b	UTSW	9	40,927,904 (GRCm39)	missense	probably benign	0.16
R0666:Ubash3b	UTSW	9	40,958,360 (GRCm39)	missense	possibly damaging	0.67
R0927:Ubash3b	UTSW	9	40,934,853 (GRCm39)	nonsense	probably null
R1112:Ubash3b	UTSW	9	40,939,412 (GRCm39)	missense	probably damaging	1.00
R1544:Ubash3b	UTSW	9	40,927,901 (GRCm39)	missense	probably damaging	1.00
R1596:Ubash3b	UTSW	9	40,942,793 (GRCm39)	missense	probably benign
R1610:Ubash3b	UTSW	9	40,954,796 (GRCm39)	missense	probably damaging	1.00
R2069:Ubash3b	UTSW	9	40,954,869 (GRCm39)	missense	possibly damaging	0.82
R2507:Ubash3b	UTSW	9	41,068,650 (GRCm39)	missense	possibly damaging	0.90
R2520:Ubash3b	UTSW	9	40,926,243 (GRCm39)	missense	probably damaging	1.00
R3899:Ubash3b	UTSW	9	40,942,860 (GRCm39)	missense	probably benign	0.00
R3900:Ubash3b	UTSW	9	40,942,860 (GRCm39)	missense	probably benign	0.00
R4715:Ubash3b	UTSW	9	40,927,896 (GRCm39)	missense	probably damaging	1.00
R4876:Ubash3b	UTSW	9	40,929,405 (GRCm39)	missense	probably benign	0.00
R5023:Ubash3b	UTSW	9	40,948,755 (GRCm39)	missense	possibly damaging	0.90
R5034:Ubash3b	UTSW	9	40,941,036 (GRCm39)	missense	probably benign	0.25
R5057:Ubash3b	UTSW	9	40,948,755 (GRCm39)	missense	possibly damaging	0.90
R5396:Ubash3b	UTSW	9	40,954,769 (GRCm39)	critical splice donor site	probably null
R5448:Ubash3b	UTSW	9	40,948,731 (GRCm39)	critical splice donor site	probably null
R5760:Ubash3b	UTSW	9	40,988,719 (GRCm39)	missense	probably benign	0.00
R6178:Ubash3b	UTSW	9	40,926,212 (GRCm39)	missense	probably damaging	0.96
R6392:Ubash3b	UTSW	9	40,926,268 (GRCm39)	missense	probably damaging	1.00
R8115:Ubash3b	UTSW	9	40,937,624 (GRCm39)	missense	probably damaging	1.00
R8406:Ubash3b	UTSW	9	40,940,971 (GRCm39)	missense	probably damaging	1.00
R8411:Ubash3b	UTSW	9	40,954,781 (GRCm39)	missense	probably benign	0.02
R8678:Ubash3b	UTSW	9	40,942,785 (GRCm39)	missense	probably benign
R9280:Ubash3b	UTSW	9	41,072,877 (GRCm39)	missense	unknown
R9559:Ubash3b	UTSW	9	40,954,926 (GRCm39)	missense	probably damaging	1.00
R9775:Ubash3b	UTSW	9	40,926,214 (GRCm39)	missense	possibly damaging	0.68

Posted On

2014-01-21