Mutagenetix > Incidental Mutation

Incidental Mutation 'R6191:Ube4a'

502565

Institutional Source

Beutler Lab

Gene Symbol

Ube4a

Ensembl Gene

ENSMUSG00000059890

Gene Name

ubiquitination factor E4A

Synonyms

UFD2b, 9930123J21Rik, 4732444G18Rik

MMRRC Submission

044331-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44834425-44876898 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 44861051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 253 (L253*)

Ref Sequence

ENSEMBL: ENSMUSP00000123668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117506] [ENSMUST00000117549] [ENSMUST00000125642] [ENSMUST00000138559] [ENSMUST00000145657] [ENSMUST00000154287] [ENSMUST00000213193] [ENSMUST00000213890] [ENSMUST00000214761] [ENSMUST00000213666]

AlphaFold

E9Q735

Predicted Effect

probably null
Transcript: ENSMUST00000117506
AA Change: L234*

SMART Domains

Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: L234*

Domain	Start	End	E-Value	Type
low complexity region	288	299	N/A	INTRINSIC
Pfam:Ufd2P_core	330	766	2.6e-101	PFAM
Pfam:Ufd2P_core	762	935	7.4e-61	PFAM
Ubox	953	1016	1.9e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117549
AA Change: L253*

SMART Domains

Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: L253*

Domain	Start	End	E-Value	Type
low complexity region	307	318	N/A	INTRINSIC
Pfam:Ufd2P_core	349	991	3.4e-155	PFAM
Ubox	1010	1073	1.9e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125642

Predicted Effect

probably null
Transcript: ENSMUST00000138559
AA Change: L253*

Predicted Effect

probably benign
Transcript: ENSMUST00000145657

Predicted Effect

probably null
Transcript: ENSMUST00000154287
AA Change: L253*

SMART Domains

Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890
AA Change: L253*

Domain	Start	End	E-Value	Type
low complexity region	307	318	N/A	INTRINSIC
Pfam:Ufd2P_core	349	547	4.1e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213193

Predicted Effect

probably benign
Transcript: ENSMUST00000213890

Predicted Effect

probably benign
Transcript: ENSMUST00000214761

Predicted Effect

probably benign
Transcript: ENSMUST00000213666

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 55,909,807 (GRCm39)	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,143,419 (GRCm39)	K334N	probably benign	Het
Ano6	T	C	15: 95,846,380 (GRCm39)		probably null	Het
Ap1m2	C	A	9: 21,210,601 (GRCm39)	V343F	probably benign	Het
Apol6	T	C	15: 76,940,098 (GRCm39)	V307A	probably benign	Het
Arsi	C	A	18: 61,045,544 (GRCm39)	A78E	probably damaging	Het
B2m	A	T	2: 121,981,396 (GRCm39)	N37I	possibly damaging	Het
Bltp3b	G	T	10: 89,641,180 (GRCm39)	G784C	possibly damaging	Het
C8a	T	C	4: 104,703,100 (GRCm39)	K363R	probably benign	Het
Ccdc117	C	A	11: 5,484,242 (GRCm39)		probably null	Het
Ccdc154	C	A	17: 25,386,945 (GRCm39)	Q325K	probably damaging	Het
Cd300e	A	T	11: 114,945,359 (GRCm39)	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,356,474 (GRCm39)	P673Q	probably damaging	Het
Csn2	A	G	5: 87,843,885 (GRCm39)		probably null	Het
Ctnna1	T	C	18: 35,307,408 (GRCm39)	V135A	probably damaging	Het
Dnah11	T	A	12: 118,154,632 (GRCm39)	D216V	probably benign	Het
Dnah12	A	G	14: 26,431,412 (GRCm39)	H410R	probably benign	Het
Dock2	C	T	11: 34,181,652 (GRCm39)	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,325,214 (GRCm39)	N526D	unknown	Het
Frem2	T	C	3: 53,562,701 (GRCm39)	H602R	probably benign	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Grina	T	C	15: 76,133,218 (GRCm39)	V262A	probably damaging	Het
Gse1	G	A	8: 121,280,542 (GRCm39)		probably null	Het
H2-Oa	C	A	17: 34,312,842 (GRCm39)	Q40K	probably damaging	Het
Hfm1	C	A	5: 107,034,419 (GRCm39)	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,348,758 (GRCm39)	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,780,029 (GRCm39)	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Iqank1	T	C	15: 75,918,218 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,229,833 (GRCm39)	V1221A	probably benign	Het
Kdm6b	T	C	11: 69,297,584 (GRCm39)	N285S	probably benign	Het
Klk1b1	T	A	7: 43,620,081 (GRCm39)	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,738,125 (GRCm39)		probably benign	Het
Lama5	T	C	2: 179,827,752 (GRCm39)	D2170G	probably damaging	Het
Lama5	T	A	2: 179,822,404 (GRCm39)	T2890S	probably damaging	Het
Lsm2	T	A	17: 35,201,131 (GRCm39)		probably benign	Het
Map3k5	G	T	10: 19,899,415 (GRCm39)	C232F	probably damaging	Het
Mapk9	T	G	11: 49,754,383 (GRCm39)	D45E	probably damaging	Het
Mpnd	T	C	17: 56,319,482 (GRCm39)	V315A	possibly damaging	Het
Msh2	A	G	17: 88,030,900 (GRCm39)	I926V	probably benign	Het
Mtcl1	C	T	17: 66,650,521 (GRCm39)	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,457,058 (GRCm39)		probably null	Het
Neo1	T	C	9: 58,796,312 (GRCm39)	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,559,291 (GRCm39)	S259G	probably benign	Het
Nkain4	G	A	2: 180,577,796 (GRCm39)	P186L	probably damaging	Het
Nkain4	G	A	2: 180,577,797 (GRCm39)	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,283 (GRCm39)	R73*	probably null	Het
Nr5a2	T	C	1: 136,818,536 (GRCm39)	D330G	probably damaging	Het
Nup54	A	G	5: 92,572,153 (GRCm39)	L299P	probably damaging	Het
Or2v1	T	C	11: 49,025,877 (GRCm39)	L286P	probably damaging	Het
Or5aq7	A	G	2: 86,938,296 (GRCm39)	V145A	probably damaging	Het
Pcdhb8	T	A	18: 37,489,279 (GRCm39)	V319E	probably benign	Het
Pcsk6	T	A	7: 65,578,875 (GRCm39)	D129E	probably benign	Het
Pld5	G	A	1: 175,798,100 (GRCm39)	T433I	probably benign	Het
Plin1	A	T	7: 79,371,347 (GRCm39)	L459H	probably benign	Het
Psd4	T	C	2: 24,284,499 (GRCm39)	V121A	probably damaging	Het
Pxdn	A	T	12: 30,032,716 (GRCm39)	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,320,384 (GRCm39)	S569P	probably damaging	Het
Rfng	T	A	11: 120,673,516 (GRCm39)	T202S	probably damaging	Het
Robo1	T	C	16: 72,730,696 (GRCm39)	S266P	probably benign	Het
Sema3c	G	T	5: 17,858,804 (GRCm39)	V68L	probably damaging	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Slfn8	A	G	11: 82,907,626 (GRCm39)	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,720,105 (GRCm39)	D144G	probably damaging	Het
St7l	T	G	3: 104,775,349 (GRCm39)	F75C	probably damaging	Het
Stard10	A	G	7: 100,992,468 (GRCm39)	I145V	probably damaging	Het
Tekt3	C	T	11: 62,968,999 (GRCm39)	A242V	probably damaging	Het
Tex44	A	G	1: 86,354,306 (GRCm39)		probably benign	Het
Thg1l	T	C	11: 45,844,988 (GRCm39)	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,583,744 (GRCm39)	I67N	probably damaging	Het
Ttn	G	A	2: 76,677,770 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,201,289 (GRCm39)	N1150K	probably damaging	Het
Ush2a	T	A	1: 187,995,298 (GRCm39)	L23*	probably null	Het
Usp22	T	A	11: 61,065,602 (GRCm39)	N37I	probably benign	Het
Usp53	T	A	3: 122,743,390 (GRCm39)	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,322,702 (GRCm39)	K6E	probably benign	Het
Vps13d	C	T	4: 144,875,918 (GRCm39)	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,153,612 (GRCm39)	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,155,156 (GRCm39)	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,917,900 (GRCm39)		probably benign	Het
Zfp345	A	C	2: 150,315,010 (GRCm39)	Y176D	probably benign	Het
Zfp598	T	C	17: 24,896,850 (GRCm39)	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,393,820 (GRCm39)	D10G	probably damaging	Het
Zmat4	T	G	8: 24,392,083 (GRCm39)	M13R	probably damaging	Het

Other mutations in Ube4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Ube4a	APN	9	44,859,439 (GRCm39)	missense	probably damaging	1.00
IGL00857:Ube4a	APN	9	44,843,684 (GRCm39)	missense	probably damaging	1.00
IGL01067:Ube4a	APN	9	44,856,163 (GRCm39)	missense	probably damaging	0.96
White_way	UTSW	9	44,861,051 (GRCm39)	nonsense	probably null
R0243:Ube4a	UTSW	9	44,857,476 (GRCm39)	unclassified	probably benign
R0355:Ube4a	UTSW	9	44,856,099 (GRCm39)	splice site	probably benign
R0680:Ube4a	UTSW	9	44,859,358 (GRCm39)	missense	probably damaging	1.00
R0863:Ube4a	UTSW	9	44,861,114 (GRCm39)	missense	possibly damaging	0.55
R0909:Ube4a	UTSW	9	44,851,271 (GRCm39)	missense	probably damaging	0.97
R1597:Ube4a	UTSW	9	44,841,064 (GRCm39)	missense	possibly damaging	0.93
R1611:Ube4a	UTSW	9	44,868,035 (GRCm39)	intron	probably benign
R1871:Ube4a	UTSW	9	44,856,235 (GRCm39)	splice site	probably null
R2069:Ube4a	UTSW	9	44,859,397 (GRCm39)	missense	probably damaging	0.96
R2518:Ube4a	UTSW	9	44,859,435 (GRCm39)	missense	probably benign	0.29
R3079:Ube4a	UTSW	9	44,871,371 (GRCm39)	missense	probably damaging	1.00
R3404:Ube4a	UTSW	9	44,840,985 (GRCm39)	missense	probably damaging	1.00
R3726:Ube4a	UTSW	9	44,844,621 (GRCm39)	missense	probably damaging	0.97
R3758:Ube4a	UTSW	9	44,861,198 (GRCm39)	unclassified	probably benign
R4027:Ube4a	UTSW	9	44,861,198 (GRCm39)	unclassified	probably benign
R4029:Ube4a	UTSW	9	44,861,198 (GRCm39)	unclassified	probably benign
R4111:Ube4a	UTSW	9	44,860,247 (GRCm39)	missense	probably damaging	0.97
R4113:Ube4a	UTSW	9	44,860,247 (GRCm39)	missense	probably damaging	0.97
R4238:Ube4a	UTSW	9	44,851,297 (GRCm39)	missense	probably damaging	1.00
R4365:Ube4a	UTSW	9	44,871,379 (GRCm39)	missense	probably damaging	1.00
R4471:Ube4a	UTSW	9	44,857,830 (GRCm39)	unclassified	probably benign
R4793:Ube4a	UTSW	9	44,860,120 (GRCm39)	missense	probably damaging	1.00
R5069:Ube4a	UTSW	9	44,851,387 (GRCm39)	missense	probably damaging	1.00
R5214:Ube4a	UTSW	9	44,860,166 (GRCm39)	missense	probably benign	0.22
R5225:Ube4a	UTSW	9	44,851,258 (GRCm39)	critical splice donor site	probably null
R5416:Ube4a	UTSW	9	44,852,476 (GRCm39)	missense	probably damaging	0.99
R5641:Ube4a	UTSW	9	44,862,179 (GRCm39)	missense	probably damaging	0.99
R5729:Ube4a	UTSW	9	44,844,627 (GRCm39)	missense	probably damaging	1.00
R5774:Ube4a	UTSW	9	44,864,395 (GRCm39)	missense	probably damaging	0.99
R5908:Ube4a	UTSW	9	44,859,322 (GRCm39)	critical splice donor site	probably null
R6752:Ube4a	UTSW	9	44,837,246 (GRCm39)	missense	probably damaging	1.00
R6886:Ube4a	UTSW	9	44,860,141 (GRCm39)	missense	probably damaging	0.96
R6911:Ube4a	UTSW	9	44,854,056 (GRCm39)	missense	probably damaging	1.00
R7417:Ube4a	UTSW	9	44,868,011 (GRCm39)	missense	probably benign	0.08
R7650:Ube4a	UTSW	9	44,844,734 (GRCm39)	missense	probably damaging	0.99
R7747:Ube4a	UTSW	9	44,837,271 (GRCm39)	missense	probably damaging	1.00
R7798:Ube4a	UTSW	9	44,844,629 (GRCm39)	missense	probably damaging	1.00
R7842:Ube4a	UTSW	9	44,861,025 (GRCm39)	splice site	probably null
R7853:Ube4a	UTSW	9	44,864,308 (GRCm39)	missense	probably benign	0.43
R8109:Ube4a	UTSW	9	44,846,781 (GRCm39)	missense	probably benign	0.00
R8223:Ube4a	UTSW	9	44,871,333 (GRCm39)	missense	possibly damaging	0.94
R8401:Ube4a	UTSW	9	44,852,527 (GRCm39)	missense	possibly damaging	0.84
R8523:Ube4a	UTSW	9	44,861,130 (GRCm39)	missense	probably damaging	1.00
R8838:Ube4a	UTSW	9	44,837,261 (GRCm39)	missense	probably damaging	1.00
R9093:Ube4a	UTSW	9	44,864,462 (GRCm39)	missense	possibly damaging	0.66
R9314:Ube4a	UTSW	9	44,854,023 (GRCm39)	missense	probably benign	0.00
R9365:Ube4a	UTSW	9	44,862,191 (GRCm39)	missense	probably benign	0.09
R9545:Ube4a	UTSW	9	44,843,638 (GRCm39)	critical splice donor site	probably null
X0025:Ube4a	UTSW	9	44,854,116 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- GTATTGAGGCTTAAAGATCAAGGTG -3'
(R):5'- TGTCAGGAATTTTCAGTCCCCAAG -3'

Sequencing Primer
(F):5'- AGATCAAGGTGTAAGCTTCCCTC -3'
(R):5'- CCAGCCTGGTCTATAGAATGAGTTC -3'

Posted On

2018-02-27