Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Ube4a'

388553

Institutional Source

Beutler Lab

Gene Symbol

Ube4a

Ensembl Gene

ENSMUSG00000059890

Gene Name

ubiquitination factor E4A

Synonyms

UFD2b, 9930123J21Rik, 4732444G18Rik

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44834425-44876898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44851387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 709 (H709R)

Ref Sequence

ENSEMBL: ENSMUSP00000112632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117506] [ENSMUST00000117549] [ENSMUST00000145657] [ENSMUST00000154287]

AlphaFold

E9Q735

Predicted Effect

probably damaging
Transcript: ENSMUST00000117506
AA Change: H690R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: H690R

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 damaging
Transcript: ENSMUST00000117549
AA Change: H709R

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

SMART Domains

Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: H709R

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: ENSMUST00000145657

Predicted Effect

probably benign
Transcript: ENSMUST00000154287

SMART Domains

Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	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
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
R6191:Ube4a	UTSW	9	44,861,051 (GRCm39)	nonsense	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'- ATTTCTGTGACACCCGACAGG -3'
(R):5'- ACATGGTATCTCCTGCACCG -3'

Sequencing Primer
(F):5'- AGCTGTGAAACCCTTAGCTCTCAG -3'
(R):5'- GCACCGGAGTACTGACTTTCCTATAG -3'

Posted On

2016-06-06