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

2810457I06Rik, TULA-2

MMRRC Submission

039074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R0927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41011098-41161697 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 41023557 bp (GRCm38)

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: 24,402,319 (GRCm38)	L363P	probably damaging	Het
Adam12	T	A	7: 133,998,230 (GRCm38)	H85L	probably damaging	Het
Adam34	A	T	8: 43,651,584 (GRCm38)	H341Q	probably damaging	Het
Adam7	A	G	14: 68,516,684 (GRCm38)	L322P	probably damaging	Het
Adcy5	T	A	16: 35,156,243 (GRCm38)	S49T	probably benign	Het
Arfgap2	T	C	2: 91,273,805 (GRCm38)	S374P	probably benign	Het
Arpp19	G	A	9: 75,037,685 (GRCm38)		probably benign	Het
Baz1a	T	C	12: 54,894,988 (GRCm38)	K1478E	probably damaging	Het
Cdc27	G	T	11: 104,505,641 (GRCm38)	A812E	possibly damaging	Het
Chtf8	G	A	8: 106,885,518 (GRCm38)	T263I	probably damaging	Het
Clcn6	T	C	4: 148,029,392 (GRCm38)	N70D	probably benign	Het
Cntnap5c	A	T	17: 58,042,558 (GRCm38)	T289S	possibly damaging	Het
Dzip3	T	C	16: 48,975,477 (GRCm38)	N177S	probably damaging	Het
Edar	G	T	10: 58,629,491 (GRCm38)		probably null	Het
Enam	T	A	5: 88,494,060 (GRCm38)	N244K	possibly damaging	Het
Fbxw10	A	G	11: 62,876,944 (GRCm38)	K874E	probably damaging	Het
Glra3	A	G	8: 56,125,204 (GRCm38)	E432G	possibly damaging	Het
Gm13084	A	T	4: 143,812,808 (GRCm38)	D38E	probably benign	Het
Gm13088	T	A	4: 143,654,220 (GRCm38)	H411L	possibly damaging	Het
Gm5346	A	T	8: 43,625,123 (GRCm38)	M688K	probably benign	Het
Grin3b	G	A	10: 79,971,228 (GRCm38)	R110Q	probably benign	Het
Herc3	T	A	6: 58,868,763 (GRCm38)	V423D	possibly damaging	Het
Ifit2	A	T	19: 34,573,584 (GRCm38)	T175S	probably benign	Het
Kcnj8	T	G	6: 142,565,901 (GRCm38)	I327L	possibly damaging	Het
Kcns2	A	T	15: 34,839,096 (GRCm38)	I202F	probably benign	Het
Kif12	T	C	4: 63,168,773 (GRCm38)	R305G	possibly damaging	Het
Limch1	A	G	5: 66,997,233 (GRCm38)	D362G	probably damaging	Het
Lrba	T	C	3: 86,780,233 (GRCm38)	I2815T	probably damaging	Het
Lrrtm1	G	T	6: 77,244,860 (GRCm38)	M433I	probably damaging	Het
Myh7b	A	G	2: 155,620,120 (GRCm38)	D312G	probably damaging	Het
Nrxn1	A	T	17: 90,037,330 (GRCm38)	I382N	probably damaging	Het
Nudt6	C	T	3: 37,405,353 (GRCm38)	R161H	probably benign	Het
Olfr1490	T	A	19: 13,654,452 (GRCm38)	W8R	probably damaging	Het
Olfr734	A	T	14: 50,320,729 (GRCm38)	Y35*	probably null	Het
Olfr744	A	C	14: 50,618,587 (GRCm38)	M122L	possibly damaging	Het
Olfr857	C	T	9: 19,713,649 (GRCm38)	A274V	probably benign	Het
Pmf1	A	T	3: 88,396,062 (GRCm38)	V64D	probably damaging	Het
Pomgnt1	T	A	4: 116,151,851 (GRCm38)	V29D	probably damaging	Het
Prex1	C	T	2: 166,586,537 (GRCm38)	A925T	probably benign	Het
Pus3	A	G	9: 35,565,031 (GRCm38)	Y72C	probably damaging	Het
Rnf20	T	C	4: 49,642,176 (GRCm38)	S247P	probably damaging	Het
Rnf213	T	A	11: 119,414,570 (GRCm38)	D542E	probably benign	Het
Sidt1	T	C	16: 44,243,532 (GRCm38)	D786G	probably benign	Het
Sirt6	A	T	10: 81,622,641 (GRCm38)	D219E	probably damaging	Het
Slc36a2	A	T	11: 55,181,585 (GRCm38)	I67N	probably damaging	Het
Slc47a1	A	G	11: 61,373,422 (GRCm38)	F57S	probably damaging	Het
Spg11	T	A	2: 122,094,487 (GRCm38)	T756S	probably damaging	Het
Sptbn1	C	A	11: 30,121,591 (GRCm38)	R1447L	probably damaging	Het
Tcf7l2	A	G	19: 55,918,955 (GRCm38)	M340V	probably damaging	Het
Thap1	T	C	8: 26,162,705 (GRCm38)	V157A	probably benign	Het
Ubtd1	G	A	19: 42,032,021 (GRCm38)	W68*	probably null	Het
Wdr64	G	T	1: 175,793,081 (GRCm38)	R793L	probably damaging	Het
Zbtb24	C	T	10: 41,451,436 (GRCm38)	T106I	probably benign	Het
Zbtb26	T	C	2: 37,436,325 (GRCm38)	N233S	possibly damaging	Het
Zcchc24	A	T	14: 25,757,161 (GRCm38)	N99K	possibly damaging	Het

Other mutations in Ubash3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Ubash3b	APN	9	41,018,015 (GRCm38)	critical splice donor site	probably null
IGL01734:Ubash3b	APN	9	41,026,247 (GRCm38)	splice site	probably benign
IGL02311:Ubash3b	APN	9	41,047,037 (GRCm38)	missense	probably benign
IGL03406:Ubash3b	APN	9	41,037,479 (GRCm38)	missense	probably damaging	1.00
PIT4618001:Ubash3b	UTSW	9	41,016,627 (GRCm38)	missense	probably benign	0.00
PIT4687001:Ubash3b	UTSW	9	41,023,518 (GRCm38)	missense	probably damaging	1.00
R0524:Ubash3b	UTSW	9	41,016,608 (GRCm38)	missense	probably benign	0.16
R0666:Ubash3b	UTSW	9	41,047,064 (GRCm38)	missense	possibly damaging	0.67
R1112:Ubash3b	UTSW	9	41,028,116 (GRCm38)	missense	probably damaging	1.00
R1544:Ubash3b	UTSW	9	41,016,605 (GRCm38)	missense	probably damaging	1.00
R1596:Ubash3b	UTSW	9	41,031,497 (GRCm38)	missense	probably benign
R1610:Ubash3b	UTSW	9	41,043,500 (GRCm38)	missense	probably damaging	1.00
R2069:Ubash3b	UTSW	9	41,043,573 (GRCm38)	missense	possibly damaging	0.82
R2507:Ubash3b	UTSW	9	41,157,354 (GRCm38)	missense	possibly damaging	0.90
R2520:Ubash3b	UTSW	9	41,014,947 (GRCm38)	missense	probably damaging	1.00
R3899:Ubash3b	UTSW	9	41,031,564 (GRCm38)	missense	probably benign	0.00
R3900:Ubash3b	UTSW	9	41,031,564 (GRCm38)	missense	probably benign	0.00
R4715:Ubash3b	UTSW	9	41,016,600 (GRCm38)	missense	probably damaging	1.00
R4876:Ubash3b	UTSW	9	41,018,109 (GRCm38)	missense	probably benign	0.00
R5023:Ubash3b	UTSW	9	41,037,459 (GRCm38)	missense	possibly damaging	0.90
R5034:Ubash3b	UTSW	9	41,029,740 (GRCm38)	missense	probably benign	0.25
R5057:Ubash3b	UTSW	9	41,037,459 (GRCm38)	missense	possibly damaging	0.90
R5396:Ubash3b	UTSW	9	41,043,473 (GRCm38)	critical splice donor site	probably null
R5448:Ubash3b	UTSW	9	41,037,435 (GRCm38)	critical splice donor site	probably null
R5760:Ubash3b	UTSW	9	41,077,423 (GRCm38)	missense	probably benign	0.00
R6178:Ubash3b	UTSW	9	41,014,916 (GRCm38)	missense	probably damaging	0.96
R6392:Ubash3b	UTSW	9	41,014,972 (GRCm38)	missense	probably damaging	1.00
R8115:Ubash3b	UTSW	9	41,026,328 (GRCm38)	missense	probably damaging	1.00
R8406:Ubash3b	UTSW	9	41,029,675 (GRCm38)	missense	probably damaging	1.00
R8411:Ubash3b	UTSW	9	41,043,485 (GRCm38)	missense	probably benign	0.02
R8678:Ubash3b	UTSW	9	41,031,489 (GRCm38)	missense	probably benign
R9280:Ubash3b	UTSW	9	41,161,581 (GRCm38)	missense	unknown
R9559:Ubash3b	UTSW	9	41,043,630 (GRCm38)	missense	probably damaging	1.00
R9775:Ubash3b	UTSW	9	41,014,918 (GRCm38)	missense	possibly damaging	0.68

Predicted Primers

Posted On

2013-11-07