Mutagenetix > Incidental Mutation

Incidental Mutation 'R0927:Ubash3b'

80523

Institutional Source

Beutler Lab

Gene Symbol

Ubash3b

Ensembl Gene

ENSMUSG00000032020

Gene Name

ubiquitin associated and SH3 domain containing, B

Synonyms

Sts-1, 2810457I06Rik, TULA-2

MMRRC Submission

039074-MU

Accession Numbers

Essential gene?

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

Stock #

R0927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40922056-41069358 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 40934853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 354 (Q354*)

Ref Sequence

ENSEMBL: ENSMUSP00000116038 (fasta)

Gene Model

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

AlphaFold

Q8BGG7

Predicted Effect

probably null
Transcript: ENSMUST00000044155
AA Change: Q476*

SMART Domains

Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020
AA Change: Q476*

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 null
Transcript: ENSMUST00000151485
AA Change: Q354*

SMART Domains

Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020
AA Change: Q354*

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

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,607,317 (GRCm39)	L363P	probably damaging	Het
Adam12	T	A	7: 133,599,959 (GRCm39)	H85L	probably damaging	Het
Adam34	A	T	8: 44,104,621 (GRCm39)	H341Q	probably damaging	Het
Adam34l	A	T	8: 44,078,160 (GRCm39)	M688K	probably benign	Het
Adam7	A	G	14: 68,754,133 (GRCm39)	L322P	probably damaging	Het
Adcy5	T	A	16: 34,976,613 (GRCm39)	S49T	probably benign	Het
Arfgap2	T	C	2: 91,104,150 (GRCm39)	S374P	probably benign	Het
Arpp19	G	A	9: 74,944,967 (GRCm39)		probably benign	Het
Baz1a	T	C	12: 54,941,773 (GRCm39)	K1478E	probably damaging	Het
Cdc27	G	T	11: 104,396,467 (GRCm39)	A812E	possibly damaging	Het
Chtf8	G	A	8: 107,612,150 (GRCm39)	T263I	probably damaging	Het
Clcn6	T	C	4: 148,113,849 (GRCm39)	N70D	probably benign	Het
Cntnap5c	A	T	17: 58,349,553 (GRCm39)	T289S	possibly damaging	Het
Dzip3	T	C	16: 48,795,840 (GRCm39)	N177S	probably damaging	Het
Edar	G	T	10: 58,465,313 (GRCm39)		probably null	Het
Enam	T	A	5: 88,641,919 (GRCm39)	N244K	possibly damaging	Het
Fbxw10	A	G	11: 62,767,770 (GRCm39)	K874E	probably damaging	Het
Glra3	A	G	8: 56,578,239 (GRCm39)	E432G	possibly damaging	Het
Grin3b	G	A	10: 79,807,062 (GRCm39)	R110Q	probably benign	Het
Herc3	T	A	6: 58,845,748 (GRCm39)	V423D	possibly damaging	Het
Ifit2	A	T	19: 34,550,984 (GRCm39)	T175S	probably benign	Het
Kcnj8	T	G	6: 142,511,627 (GRCm39)	I327L	possibly damaging	Het
Kcns2	A	T	15: 34,839,242 (GRCm39)	I202F	probably benign	Het
Kif12	T	C	4: 63,087,010 (GRCm39)	R305G	possibly damaging	Het
Limch1	A	G	5: 67,154,576 (GRCm39)	D362G	probably damaging	Het
Lrba	T	C	3: 86,687,540 (GRCm39)	I2815T	probably damaging	Het
Lrrtm1	G	T	6: 77,221,843 (GRCm39)	M433I	probably damaging	Het
Myh7b	A	G	2: 155,462,040 (GRCm39)	D312G	probably damaging	Het
Nrxn1	A	T	17: 90,344,758 (GRCm39)	I382N	probably damaging	Het
Nudt6	C	T	3: 37,459,502 (GRCm39)	R161H	probably benign	Het
Or10w1	T	A	19: 13,631,816 (GRCm39)	W8R	probably damaging	Het
Or11g2	A	C	14: 50,856,044 (GRCm39)	M122L	possibly damaging	Het
Or4m1	A	T	14: 50,558,186 (GRCm39)	Y35*	probably null	Het
Or7e166	C	T	9: 19,624,945 (GRCm39)	A274V	probably benign	Het
Pmf1	A	T	3: 88,303,369 (GRCm39)	V64D	probably damaging	Het
Pomgnt1	T	A	4: 116,009,048 (GRCm39)	V29D	probably damaging	Het
Pramel22	T	A	4: 143,380,790 (GRCm39)	H411L	possibly damaging	Het
Pramel26	A	T	4: 143,539,378 (GRCm39)	D38E	probably benign	Het
Prex1	C	T	2: 166,428,457 (GRCm39)	A925T	probably benign	Het
Pus3	A	G	9: 35,476,327 (GRCm39)	Y72C	probably damaging	Het
Rnf20	T	C	4: 49,642,176 (GRCm39)	S247P	probably damaging	Het
Rnf213	T	A	11: 119,305,396 (GRCm39)	D542E	probably benign	Het
Sidt1	T	C	16: 44,063,895 (GRCm39)	D786G	probably benign	Het
Sirt6	A	T	10: 81,458,475 (GRCm39)	D219E	probably damaging	Het
Slc36a2	A	T	11: 55,072,411 (GRCm39)	I67N	probably damaging	Het
Slc47a1	A	G	11: 61,264,248 (GRCm39)	F57S	probably damaging	Het
Spg11	T	A	2: 121,924,968 (GRCm39)	T756S	probably damaging	Het
Sptbn1	C	A	11: 30,071,591 (GRCm39)	R1447L	probably damaging	Het
Tcf7l2	A	G	19: 55,907,387 (GRCm39)	M340V	probably damaging	Het
Thap1	T	C	8: 26,652,733 (GRCm39)	V157A	probably benign	Het
Ubtd1	G	A	19: 42,020,460 (GRCm39)	W68*	probably null	Het
Wdr64	G	T	1: 175,620,647 (GRCm39)	R793L	probably damaging	Het
Zbtb24	C	T	10: 41,327,432 (GRCm39)	T106I	probably benign	Het
Zbtb26	T	C	2: 37,326,337 (GRCm39)	N233S	possibly damaging	Het
Zcchc24	A	T	14: 25,757,585 (GRCm39)	N99K	possibly damaging	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
IGL01734:Ubash3b	APN	9	40,937,543 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

Posted On

2013-11-07