Mutagenetix > Incidental Mutation

Incidental Mutation 'R1544:Ubash3b'

172029

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

039583-MU

Accession Numbers

Essential gene?

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

Stock #

R1544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40922056-41069358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40927901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 469 (V469A)

Ref Sequence

ENSEMBL: ENSMUSP00000116038 (fasta)

Gene Model

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

AlphaFold

Q8BGG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000044155
AA Change: V591A

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

SMART Domains

Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020
AA Change: V591A

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 damaging
Transcript: ENSMUST00000151485
AA Change: V469A

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

SMART Domains

Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020
AA Change: V469A

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

Meta Mutation Damage Score

0.3619

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.9%

Validation Efficiency

99% (114/115)

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,147,543 (GRCm39)	I182T	possibly damaging	Het
4933406P04Rik	A	G	10: 20,187,105 (GRCm39)		probably benign	Het
A730018C14Rik	A	G	12: 112,381,924 (GRCm39)		noncoding transcript	Het
Aacs	A	T	5: 125,593,394 (GRCm39)	I666F	possibly damaging	Het
Abcb9	C	T	5: 124,221,694 (GRCm39)	V227I	probably benign	Het
Abcd3	T	C	3: 121,578,122 (GRCm39)	Q168R	probably benign	Het
Adamts4	A	G	1: 171,080,311 (GRCm39)	Q288R	probably benign	Het
Atad2	G	A	15: 57,966,760 (GRCm39)	A611V	probably damaging	Het
Aup1	T	C	6: 83,032,187 (GRCm39)	V118A	possibly damaging	Het
Bend7	T	A	2: 4,768,122 (GRCm39)		probably benign	Het
Brd4	A	G	17: 32,417,646 (GRCm39)		probably benign	Het
C4b	C	A	17: 34,957,941 (GRCm39)	R580L	probably benign	Het
Cct8	G	T	16: 87,288,342 (GRCm39)		probably benign	Het
Cfhr4	A	T	1: 139,664,608 (GRCm39)	C484S	probably damaging	Het
Cilp	T	C	9: 65,183,127 (GRCm39)	Y344H	probably benign	Het
Clic6	A	T	16: 92,288,961 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,703 (GRCm39)	S247P	probably damaging	Het
Csf2rb	G	T	15: 78,224,955 (GRCm39)	A212S	probably benign	Het
Csmd3	A	C	15: 47,475,294 (GRCm39)		probably null	Het
Cyp26c1	A	G	19: 37,679,393 (GRCm39)	D366G	probably benign	Het
Dhx33	A	G	11: 70,890,354 (GRCm39)	S222P	probably damaging	Het
Dhx40	T	A	11: 86,697,379 (GRCm39)	I63F	possibly damaging	Het
Dipk2b	A	C	X: 18,286,701 (GRCm39)	L285V	possibly damaging	Het
Dlgap2	T	A	8: 14,879,861 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,105,957 (GRCm39)	D20E	unknown	Het
Dnase2b	C	A	3: 146,290,312 (GRCm39)	A220S	probably benign	Het
Dock10	T	C	1: 80,570,352 (GRCm39)	E362G	probably benign	Het
Ect2l	C	T	10: 18,044,182 (GRCm39)	V226I	probably benign	Het
Epha10	C	A	4: 124,779,389 (GRCm39)	N78K	probably damaging	Het
Epha3	A	G	16: 63,593,416 (GRCm39)	V224A	probably damaging	Het
Fcgr4	C	A	1: 170,847,523 (GRCm39)	D40E	probably damaging	Het
Fer1l4	T	C	2: 155,887,553 (GRCm39)	M548V	probably benign	Het
Flii	C	T	11: 60,610,518 (GRCm39)		probably null	Het
Flnc	A	T	6: 29,444,079 (GRCm39)	Y631F	probably benign	Het
Gm6871	A	C	7: 41,195,514 (GRCm39)		probably null	Het
Gtf2ird1	A	T	5: 134,387,772 (GRCm39)	S1028T	possibly damaging	Het
Hycc1	A	T	5: 24,170,139 (GRCm39)	D403E	probably benign	Het
Hydin	A	G	8: 111,301,486 (GRCm39)	H3739R	probably benign	Het
Iqcg	A	T	16: 32,865,895 (GRCm39)	N149K	probably benign	Het
Iqgap3	A	G	3: 88,006,200 (GRCm39)	D537G	probably benign	Het
Itih2	T	G	2: 10,110,025 (GRCm39)	D576A	probably benign	Het
Kcmf1	T	C	6: 72,825,212 (GRCm39)	T243A	probably benign	Het
Kif1a	A	G	1: 93,002,670 (GRCm39)		probably benign	Het
Klf10	C	T	15: 38,297,030 (GRCm39)	G337S	probably damaging	Het
Krt31	T	C	11: 99,938,699 (GRCm39)	N298S	possibly damaging	Het
Lmnb1	A	G	18: 56,882,823 (GRCm39)	E556G	probably benign	Het
Mael	A	T	1: 166,029,859 (GRCm39)	S354T	probably benign	Het
Mast3	T	C	8: 71,238,816 (GRCm39)	D496G	probably damaging	Het
Med12l	A	G	3: 59,172,661 (GRCm39)	T1806A	possibly damaging	Het
Mms19	A	G	19: 41,944,260 (GRCm39)		probably null	Het
Moap1	A	T	12: 102,709,504 (GRCm39)	M15K	possibly damaging	Het
Mpv17l	G	T	16: 13,764,683 (GRCm39)	W70L	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo7b	T	C	18: 32,127,962 (GRCm39)	I577V	probably benign	Het
Myo9b	T	A	8: 71,743,620 (GRCm39)	L227Q	probably damaging	Het
Myom2	T	C	8: 15,154,059 (GRCm39)		probably benign	Het
Naip6	C	A	13: 100,452,983 (GRCm39)	R26L	probably benign	Het
Nbea	T	C	3: 55,966,248 (GRCm39)	T405A	probably damaging	Het
Nrp2	T	A	1: 62,802,063 (GRCm39)	I502N	probably damaging	Het
Nt5el	A	T	13: 105,246,129 (GRCm39)	H230L	probably benign	Het
Nufip2	G	A	11: 77,582,733 (GRCm39)	E216K	possibly damaging	Het
Oaf	A	G	9: 43,133,930 (GRCm39)	Y264H	probably damaging	Het
Or51a42	A	G	7: 103,708,431 (GRCm39)	V126A	probably damaging	Het
Or5m10	T	C	2: 85,717,615 (GRCm39)	L157P	probably damaging	Het
Or6c217	A	T	10: 129,738,293 (GRCm39)	C95*	probably null	Het
Pax1	T	C	2: 147,210,321 (GRCm39)	V352A	probably damaging	Het
Pkd1l2	TGGG	TGG	8: 117,764,974 (GRCm39)		probably null	Het
Plxna3	G	A	X: 73,383,772 (GRCm39)		probably null	Het
Pnpla3	T	C	15: 84,065,247 (GRCm39)	V347A	probably benign	Het
Ppl	T	A	16: 4,920,461 (GRCm39)	K350*	probably null	Het
Pramel28	T	C	4: 143,692,632 (GRCm39)	D123G	probably benign	Het
Prb1a	T	A	6: 132,186,424 (GRCm39)		probably null	Het
Prb1a	C	A	6: 132,186,423 (GRCm39)		probably null	Het
Ptpn11	G	A	5: 121,275,574 (GRCm39)	H540Y	probably benign	Het
Ptprz1	C	A	6: 23,000,747 (GRCm39)	H946N	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rad51b	A	G	12: 79,349,317 (GRCm39)	E51G	possibly damaging	Het
Rin2	T	C	2: 145,700,366 (GRCm39)	V181A	probably damaging	Het
Rnf157	T	A	11: 116,245,188 (GRCm39)		probably null	Het
Rnf207	A	G	4: 152,398,328 (GRCm39)		probably benign	Het
Ror1	A	T	4: 100,299,183 (GRCm39)	K852M	probably damaging	Het
Sbp	T	A	17: 24,164,043 (GRCm39)	I102K	probably benign	Het
Scaf8	T	C	17: 3,195,429 (GRCm39)	I33T	probably damaging	Het
Scn5a	C	T	9: 119,315,699 (GRCm39)	V1670I	probably damaging	Het
Serhl	C	T	15: 82,989,877 (GRCm39)	T42M	probably damaging	Het
Sin3a	A	G	9: 57,011,281 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,012,374 (GRCm39)	S166G	probably benign	Het
Slc15a4	G	A	5: 127,680,832 (GRCm39)	H396Y	probably benign	Het
Slc2a7	A	T	4: 150,239,143 (GRCm39)	N123Y	probably damaging	Het
Smpd3	G	A	8: 106,992,199 (GRCm39)	T118M	possibly damaging	Het
Spns2	A	T	11: 72,347,193 (GRCm39)	I427N	probably benign	Het
Ssmem1	T	A	6: 30,519,650 (GRCm39)	S112T	probably damaging	Het
Stard10	A	T	7: 100,993,233 (GRCm39)	D190V	probably damaging	Het
Stil	A	T	4: 114,881,049 (GRCm39)	K531M	probably damaging	Het
Strc	T	C	2: 121,203,219 (GRCm39)		probably null	Het
Svil	T	A	18: 5,046,817 (GRCm39)	I21N	possibly damaging	Het
Syt11	T	C	3: 88,656,110 (GRCm39)	M14V	probably benign	Het
Tasor2	A	T	13: 3,640,413 (GRCm39)	H241Q	possibly damaging	Het
Tg	A	T	15: 66,577,081 (GRCm39)	Q1468L	probably benign	Het
Tjp1	A	G	7: 64,952,669 (GRCm39)	V1555A	probably benign	Het
Tmprss11d	A	C	5: 86,486,658 (GRCm39)	S77R	probably damaging	Het
Tsnaxip1	A	G	8: 106,554,383 (GRCm39)		probably benign	Het
Tyr	C	A	7: 87,141,914 (GRCm39)	L138F	probably damaging	Het
Ugt8a	T	C	3: 125,709,098 (GRCm39)	Y4C	probably benign	Het
Vmn1r201	A	T	13: 22,658,968 (GRCm39)	T61S	probably benign	Het
Vmn1r204	A	G	13: 22,740,465 (GRCm39)	H32R	probably benign	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Wdr90	T	C	17: 26,068,284 (GRCm39)	D1348G	possibly damaging	Het
Zfp563	T	A	17: 33,324,187 (GRCm39)	C261S	probably benign	Het
Zfp809	T	A	9: 22,146,395 (GRCm39)	L28Q	probably damaging	Het
Znrf3	T	A	11: 5,239,066 (GRCm39)	Q99L	probably 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
R0927:Ubash3b	UTSW	9	40,934,853 (GRCm39)	nonsense	probably null
R1112:Ubash3b	UTSW	9	40,939,412 (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

PCR Primer
(F):5'- ACGAAGCTCCACTGAACACATCTTG -3'
(R):5'- TGGAAATGCCCATCCACTGGACTC -3'

Sequencing Primer
(F):5'- GGCTCAGCAGAAAATTCTGC -3'
(R):5'- tccactggactccatccc -3'

Posted On

2014-04-13