Mutagenetix > Incidental Mutation

Incidental Mutation 'R1874:Ube4b'

211021

Institutional Source

Beutler Lab

Gene Symbol

Ube4b

Ensembl Gene

ENSMUSG00000028960

Gene Name

ubiquitination factor E4B

Synonyms

UFD2a, D4Bwg0973e, 4930551I19Rik, UFD2, 4933406G05Rik, Ufd2p

MMRRC Submission

039896-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149412873-149511206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149432428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 832 (L832P)

Ref Sequence

ENSEMBL: ENSMUSP00000134452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103212] [ENSMUST00000172836] [ENSMUST00000174343]

AlphaFold

Q9ES00

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103212
AA Change: L832P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099501
Gene: ENSMUSG00000028960
AA Change: L832P

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
low complexity region	21	33	N/A	INTRINSIC
low complexity region	37	50	N/A	INTRINSIC
low complexity region	76	99	N/A	INTRINSIC
low complexity region	261	278	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC
Pfam:Ufd2P_core	462	1083	1.3e-199	PFAM
Ubox	1102	1164	3.94e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136732

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151896

Predicted Effect

probably damaging
Transcript: ENSMUST00000172836
AA Change: L832P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134452
Gene: ENSMUSG00000028960
AA Change: L832P

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
low complexity region	21	33	N/A	INTRINSIC
low complexity region	37	50	N/A	INTRINSIC
low complexity region	76	99	N/A	INTRINSIC
low complexity region	261	278	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC
Pfam:Ufd2P_core	462	983	7.4e-143	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174343

SMART Domains

Protein: ENSMUSP00000134556
Gene: ENSMUSG00000028960

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
low complexity region	21	33	N/A	INTRINSIC
low complexity region	37	50	N/A	INTRINSIC
low complexity region	76	99	N/A	INTRINSIC
low complexity region	261	278	N/A	INTRINSIC

Meta Mutation Damage Score

0.9254

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 94.1%

Validation Efficiency

96% (105/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene die by midgestation and exhibit cardiac development defects such as hemorrhage and cardiomyocyte apoptosis. Heterozygous mice exhibit axonal dystrophy in the nucleus gracilis, degeneration of Purkinje cells and gait abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,670,428 (GRCm39)	S217G	probably benign	Het
Adrb3	C	A	8: 27,717,591 (GRCm39)	R286L	probably damaging	Het
Akap11	T	A	14: 78,749,306 (GRCm39)	D1027V	probably benign	Het
Ank3	A	T	10: 69,733,913 (GRCm39)	I726F	probably damaging	Het
Ankmy2	T	A	12: 36,215,930 (GRCm39)	D43E	possibly damaging	Het
Ankrd34b	A	G	13: 92,576,064 (GRCm39)	D432G	probably damaging	Het
Ano3	A	C	2: 110,715,217 (GRCm39)	S74A	probably benign	Het
B4galnt4	T	A	7: 140,650,439 (GRCm39)	S769T	probably damaging	Het
Bicral	T	A	17: 47,136,104 (GRCm39)	T369S	probably benign	Het
Blm	A	G	7: 80,147,166 (GRCm39)	L738P	probably damaging	Het
Bpifb3	A	G	2: 153,767,760 (GRCm39)	T278A	probably benign	Het
Bpifb5	A	G	2: 154,069,122 (GRCm39)		probably benign	Het
Brd8	G	C	18: 34,743,527 (GRCm39)	P266R	probably damaging	Het
Btaf1	A	T	19: 36,957,983 (GRCm39)	M587L	probably benign	Het
Casz1	C	G	4: 149,027,668 (GRCm39)	T1015S	probably damaging	Het
Cdh23	A	G	10: 60,272,597 (GRCm39)	I524T	possibly damaging	Het
Celsr3	T	C	9: 108,713,037 (GRCm39)	V1825A	probably benign	Het
Cenpf	A	G	1: 189,416,013 (GRCm39)	L104P	probably damaging	Het
Clasp1	G	T	1: 118,528,315 (GRCm39)		probably null	Het
Coprs	A	G	8: 13,935,112 (GRCm39)	W148R	probably damaging	Het
Cpne1	A	G	2: 155,920,302 (GRCm39)	S168P	probably damaging	Het
Cpxm2	T	C	7: 131,661,563 (GRCm39)	Y408C	probably damaging	Het
Ctnna3	A	G	10: 63,339,886 (GRCm39)	E24G	possibly damaging	Het
Cubn	T	A	2: 13,327,813 (GRCm39)	S2671C	probably damaging	Het
Cyp4f39	T	A	17: 32,702,298 (GRCm39)	F265Y	probably damaging	Het
Dgkq	C	A	5: 108,808,461 (GRCm39)	R34L	probably benign	Het
Dnajc7	C	T	11: 100,490,139 (GRCm39)		probably benign	Het
Eml6	T	G	11: 29,781,136 (GRCm39)	D632A	probably damaging	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fbxw22	A	T	9: 109,214,179 (GRCm39)	C212*	probably null	Het
Ffar2	A	G	7: 30,518,839 (GRCm39)		probably null	Het
Fga	A	T	3: 82,940,028 (GRCm39)	T561S	probably damaging	Het
Fry	A	G	5: 150,269,386 (GRCm39)	Y159C	probably damaging	Het
Gal3st1	A	G	11: 3,948,231 (GRCm39)	Y146C	probably damaging	Het
Gapvd1	A	T	2: 34,596,033 (GRCm39)	H788Q	probably damaging	Het
Gimap7	G	A	6: 48,700,449 (GRCm39)	V12I	possibly damaging	Het
Gli2	C	A	1: 118,929,779 (GRCm39)	A43S	possibly damaging	Het
Gm15446	T	C	5: 110,090,419 (GRCm39)	F224L	probably damaging	Het
Gm21738	C	T	14: 19,418,824 (GRCm38)	V35I	possibly damaging	Het
Grhl1	T	C	12: 24,636,155 (GRCm39)		probably benign	Het
Grk6	T	C	13: 55,598,086 (GRCm39)	Y53H	probably damaging	Het
Hcar1	C	T	5: 124,017,328 (GRCm39)	R121K	probably damaging	Het
Hmcn1	A	C	1: 150,596,446 (GRCm39)	S1797A	probably damaging	Het
Hsd17b7	A	T	1: 169,783,562 (GRCm39)	L282Q	possibly damaging	Het
Irs1	TTCTCTGAGTGGCCACAGCGTCT	TTCT	1: 82,267,574 (GRCm39)		probably null	Het
Kif1b	C	T	4: 149,272,089 (GRCm39)	V1571I	probably benign	Het
Lpl	T	A	8: 69,349,271 (GRCm39)	C266S	probably damaging	Het
Mag	G	A	7: 30,608,476 (GRCm39)	H213Y	probably benign	Het
Mansc4	T	G	6: 146,976,688 (GRCm39)	R309S	probably benign	Het
Mlh3	A	G	12: 85,284,287 (GRCm39)		probably null	Het
Mndal	G	A	1: 173,687,933 (GRCm39)		probably benign	Het
Mrgpra2b	T	A	7: 47,113,742 (GRCm39)	E330V	probably damaging	Het
Myh3	A	G	11: 66,984,005 (GRCm39)	I990V	probably benign	Het
Myoz2	A	T	3: 122,819,765 (GRCm39)	S65T	probably damaging	Het
Naa16	T	C	14: 79,593,183 (GRCm39)	E463G	possibly damaging	Het
Nadsyn1	A	G	7: 143,351,581 (GRCm39)	F684S	probably damaging	Het
Notch1	T	C	2: 26,371,591 (GRCm39)	E286G	possibly damaging	Het
Nynrin	A	T	14: 56,100,950 (GRCm39)	I247L	probably benign	Het
Oprm1	A	G	10: 6,739,035 (GRCm39)	H54R	probably benign	Het
Or10g6	T	A	9: 39,934,151 (GRCm39)	I154N	possibly damaging	Het
Or2n1d	C	T	17: 38,646,860 (GRCm39)	P271S	probably damaging	Het
Or51a43	T	C	7: 103,717,336 (GRCm39)	I301V	probably null	Het
P4hb	C	T	11: 120,452,992 (GRCm39)	D483N	probably benign	Het
Pak1	T	C	7: 97,520,787 (GRCm39)	S149P	probably benign	Het
Pars2	T	C	4: 106,510,913 (GRCm39)	F232L	possibly damaging	Het
Pih1d2	A	G	9: 50,532,245 (GRCm39)	M88V	possibly damaging	Het
Pms1	A	T	1: 53,246,392 (GRCm39)	N382K	probably benign	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Pole	G	A	5: 110,471,530 (GRCm39)	V1425M	possibly damaging	Het
Pot1b	T	A	17: 55,961,805 (GRCm39)	Q591L	probably benign	Het
Ppp1r9a	C	T	6: 4,906,348 (GRCm39)	T301M	possibly damaging	Het
Psg21	T	C	7: 18,384,741 (GRCm39)	E335G	probably benign	Het
Ptpru	T	A	4: 131,497,066 (GRCm39)	M1416L	probably benign	Het
Pxn	T	C	5: 115,683,049 (GRCm39)	V117A	probably damaging	Het
Qsox1	C	T	1: 155,688,385 (GRCm39)	R54H	possibly damaging	Het
Rad1	A	G	15: 10,488,092 (GRCm39)	E42G	probably damaging	Het
Rpp14	A	G	14: 8,090,145 (GRCm38)	Y23C	probably benign	Het
Sdk2	C	T	11: 113,725,782 (GRCm39)	V1156I	probably benign	Het
Serpina3j	G	T	12: 104,285,958 (GRCm39)	R371L	probably benign	Het
Serpinb9d	T	A	13: 33,381,946 (GRCm39)		probably null	Het
Sirt5	C	T	13: 43,524,267 (GRCm39)	S13F	possibly damaging	Het
Slc6a7	T	A	18: 61,134,470 (GRCm39)		probably benign	Het
Slx4	A	G	16: 3,804,712 (GRCm39)	S701P	probably benign	Het
Snx29	A	G	16: 11,185,545 (GRCm39)	T43A	probably benign	Het
Speg	T	C	1: 75,400,550 (GRCm39)	V2570A	probably benign	Het
Srrm4	T	A	5: 116,591,565 (GRCm39)		probably benign	Het
Stk32a	A	G	18: 43,394,381 (GRCm39)	Y110C	probably damaging	Het
Tbc1d31	G	A	15: 57,779,506 (GRCm39)	G73E	probably benign	Het
Thsd7a	A	T	6: 12,555,434 (GRCm39)	I150N	possibly damaging	Het
Tjp1	A	T	7: 64,969,001 (GRCm39)	D699E	probably damaging	Het
Tmem143	A	G	7: 45,565,988 (GRCm39)	D437G	possibly damaging	Het
Tmem45a2	A	G	16: 56,867,447 (GRCm39)	Y85H	possibly damaging	Het
Tmem45b	T	A	9: 31,340,383 (GRCm39)	T7S	probably damaging	Het
Tut4	T	A	4: 108,407,922 (GRCm39)	V1397D	probably damaging	Het
Ugp2	G	T	11: 21,279,048 (GRCm39)	F379L	probably damaging	Het
Ugt3a1	A	T	15: 9,365,437 (GRCm39)	D350V	probably damaging	Het
Vmn2r8	T	A	5: 108,950,284 (GRCm39)	T188S	possibly damaging	Het
Vwa7	C	G	17: 35,236,088 (GRCm39)	P14R	probably benign	Het
Vwc2	C	A	11: 11,211,495 (GRCm39)	T317K	probably damaging	Het
Vwf	A	T	6: 125,605,335 (GRCm39)	Q906L	probably benign	Het
Wdr49	A	G	3: 75,336,654 (GRCm39)	V351A	probably damaging	Het
Wdr7	A	G	18: 63,861,575 (GRCm39)	S196G	probably benign	Het
Xkr6	C	A	14: 64,035,745 (GRCm39)	A26E	unknown	Het
Zfp955b	T	C	17: 33,524,427 (GRCm39)	I47V	probably benign	Het

Other mutations in Ube4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Ube4b	APN	4	149,465,823 (GRCm39)	missense	probably benign	0.29
IGL00820:Ube4b	APN	4	149,437,378 (GRCm39)	splice site	probably benign
IGL01093:Ube4b	APN	4	149,414,726 (GRCm39)	missense	probably benign	0.01
IGL01154:Ube4b	APN	4	149,449,927 (GRCm39)	missense	probably benign	0.28
IGL01612:Ube4b	APN	4	149,468,275 (GRCm39)	missense	probably damaging	0.98
IGL01800:Ube4b	APN	4	149,415,951 (GRCm39)	missense	probably damaging	1.00
IGL02149:Ube4b	APN	4	149,483,141 (GRCm39)	missense	possibly damaging	0.88
IGL02472:Ube4b	APN	4	149,471,536 (GRCm39)	critical splice donor site	probably null
IGL02839:Ube4b	APN	4	149,452,856 (GRCm39)	missense	probably damaging	0.98
IGL03027:Ube4b	APN	4	149,465,734 (GRCm39)	missense	probably damaging	1.00
R0143:Ube4b	UTSW	4	149,439,914 (GRCm39)	missense	possibly damaging	0.61
R0164:Ube4b	UTSW	4	149,444,781 (GRCm39)	missense	probably damaging	0.98
R0164:Ube4b	UTSW	4	149,444,781 (GRCm39)	missense	probably damaging	0.98
R0206:Ube4b	UTSW	4	149,483,094 (GRCm39)	missense	probably benign	0.38
R0591:Ube4b	UTSW	4	149,442,034 (GRCm39)	intron	probably benign
R1366:Ube4b	UTSW	4	149,419,606 (GRCm39)	missense	probably damaging	0.98
R1452:Ube4b	UTSW	4	149,455,626 (GRCm39)	missense	probably damaging	1.00
R1513:Ube4b	UTSW	4	149,436,035 (GRCm39)	missense	probably benign	0.17
R1668:Ube4b	UTSW	4	149,445,751 (GRCm39)	missense	probably benign	0.02
R2002:Ube4b	UTSW	4	149,468,254 (GRCm39)	missense	probably benign	0.16
R2050:Ube4b	UTSW	4	149,429,069 (GRCm39)	missense	probably damaging	1.00
R2109:Ube4b	UTSW	4	149,457,298 (GRCm39)	missense	probably benign	0.00
R2281:Ube4b	UTSW	4	149,429,029 (GRCm39)	missense	probably damaging	1.00
R3547:Ube4b	UTSW	4	149,419,573 (GRCm39)	missense	probably damaging	1.00
R3881:Ube4b	UTSW	4	149,449,861 (GRCm39)	splice site	probably null
R4378:Ube4b	UTSW	4	149,468,255 (GRCm39)	missense	probably damaging	1.00
R4563:Ube4b	UTSW	4	149,443,622 (GRCm39)	intron	probably benign
R4674:Ube4b	UTSW	4	149,415,827 (GRCm39)	missense	possibly damaging	0.86
R4716:Ube4b	UTSW	4	149,429,069 (GRCm39)	missense	probably damaging	1.00
R5026:Ube4b	UTSW	4	149,445,022 (GRCm39)	missense	probably damaging	1.00
R5125:Ube4b	UTSW	4	149,427,449 (GRCm39)	missense	probably damaging	1.00
R5178:Ube4b	UTSW	4	149,427,449 (GRCm39)	missense	probably damaging	1.00
R5182:Ube4b	UTSW	4	149,465,699 (GRCm39)	missense	probably null	0.08
R5229:Ube4b	UTSW	4	149,471,635 (GRCm39)	missense	probably damaging	1.00
R5303:Ube4b	UTSW	4	149,468,260 (GRCm39)	missense	probably damaging	0.98
R5346:Ube4b	UTSW	4	149,421,881 (GRCm39)	missense	possibly damaging	0.91
R5780:Ube4b	UTSW	4	149,415,821 (GRCm39)	missense	probably benign	0.00
R5813:Ube4b	UTSW	4	149,421,925 (GRCm39)	missense	probably damaging	1.00
R5842:Ube4b	UTSW	4	149,415,887 (GRCm39)	missense	probably benign	0.01
R5994:Ube4b	UTSW	4	149,457,389 (GRCm39)	missense	probably damaging	0.97
R6020:Ube4b	UTSW	4	149,452,768 (GRCm39)	missense	probably benign	0.17
R6125:Ube4b	UTSW	4	149,483,203 (GRCm39)	missense	probably benign	0.13
R6272:Ube4b	UTSW	4	149,471,590 (GRCm39)	missense	probably damaging	1.00
R6333:Ube4b	UTSW	4	149,432,494 (GRCm39)	missense	probably damaging	1.00
R6426:Ube4b	UTSW	4	149,510,453 (GRCm39)	unclassified	probably benign
R7203:Ube4b	UTSW	4	149,483,067 (GRCm39)	missense	probably benign	0.30
R7341:Ube4b	UTSW	4	149,427,458 (GRCm39)	missense	probably damaging	1.00
R7672:Ube4b	UTSW	4	149,471,661 (GRCm39)	missense	probably benign	0.10
R7713:Ube4b	UTSW	4	149,483,238 (GRCm39)	missense	possibly damaging	0.53
R8175:Ube4b	UTSW	4	149,435,973 (GRCm39)	missense	probably benign	0.13
R9042:Ube4b	UTSW	4	149,444,833 (GRCm39)	missense	probably benign
R9173:Ube4b	UTSW	4	149,415,933 (GRCm39)	missense	probably damaging	0.96
R9462:Ube4b	UTSW	4	149,444,748 (GRCm39)	missense	probably damaging	0.97
R9577:Ube4b	UTSW	4	149,468,231 (GRCm39)	missense	possibly damaging	0.51
Z1088:Ube4b	UTSW	4	149,419,582 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CTGGGGCTAGGAAGTGATTTAC -3'
(R):5'- ATACTCTCCTCAGGTGCTTTATGAG -3'

Sequencing Primer
(F):5'- GCAGATGTTAAAGCCTTGATGG -3'
(R):5'- GCTTTATGAGCCCTGCACTCAG -3'

Posted On

2014-06-30