Mutagenetix > Incidental Mutation

Incidental Mutation 'R2069:Ube4a'

226955

Institutional Source

Beutler Lab

Gene Symbol

Ube4a

Ensembl Gene

ENSMUSG00000059890

Gene Name

ubiquitination factor E4A

Synonyms

UFD2b, 9930123J21Rik, 4732444G18Rik

MMRRC Submission

040074-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44834425-44876898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44859397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 367 (N367S)

Ref Sequence

ENSEMBL: ENSMUSP00000123668 (fasta)

Gene Model

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

AlphaFold

E9Q735

Predicted Effect

probably benign
Transcript: ENSMUST00000117506
AA Change: N348S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: N348S

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 benign
Transcript: ENSMUST00000117549
AA Change: N367S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: N367S

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 benign
Transcript: ENSMUST00000138559
AA Change: N367S

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000145657

Predicted Effect

probably damaging
Transcript: ENSMUST00000154287
AA Change: N367S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890
AA Change: N367S

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: ENSMUST00000214761

Predicted Effect

probably benign
Transcript: ENSMUST00000213666

Predicted Effect

probably benign
Transcript: ENSMUST00000213890

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (104/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,012,341 (GRCm39)	V86A	probably benign	Het
Abcc3	A	T	11: 94,255,243 (GRCm39)	I601N	probably damaging	Het
Abl2	T	A	1: 156,448,397 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Ahi1	C	T	10: 20,835,895 (GRCm39)	T76I	probably damaging	Het
Arhgap42	C	T	9: 9,035,601 (GRCm39)	G247D	probably damaging	Het
Arid2	C	T	15: 96,260,471 (GRCm39)	L407F	probably damaging	Het
Atp13a1	T	C	8: 70,252,423 (GRCm39)	F606L	probably benign	Het
Avl9	T	A	6: 56,713,420 (GRCm39)		probably benign	Het
B3glct	C	T	5: 149,632,845 (GRCm39)	A65V	probably damaging	Het
Bcorl1	T	C	X: 47,490,794 (GRCm39)		probably benign	Het
Bdp1	T	C	13: 100,187,496 (GRCm39)	T1624A	probably benign	Het
Bmp15	A	G	X: 6,228,075 (GRCm39)	M263T	probably benign	Het
Brd8	T	C	18: 34,747,532 (GRCm39)	K110E	probably damaging	Het
Cachd1	A	G	4: 100,848,041 (GRCm39)	D1052G	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Ccdc113	G	A	8: 96,283,924 (GRCm39)	E333K	probably benign	Het
Ccnl2	A	T	4: 155,896,938 (GRCm39)		probably null	Het
Ccr9	T	C	9: 123,608,429 (GRCm39)	F37S	probably benign	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Ceacam10	A	T	7: 24,477,797 (GRCm39)	N104I	probably damaging	Het
Cenpk	T	A	13: 104,372,684 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,652,453 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,962,556 (GRCm39)	F771S	probably damaging	Het
Chil4	G	A	3: 106,126,771 (GRCm39)	L4F	probably benign	Het
Cilp	G	A	9: 65,185,372 (GRCm39)	R489Q	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Coq8b	A	G	7: 26,956,802 (GRCm39)	E485G	probably damaging	Het
Cse1l	A	G	2: 166,783,412 (GRCm39)	S733G	probably benign	Het
Dnah5	G	A	15: 28,312,534 (GRCm39)		probably null	Het
Dnmt3l	T	C	10: 77,888,566 (GRCm39)	V156A	probably damaging	Het
Duox1	A	T	2: 122,163,543 (GRCm39)	T792S	probably benign	Het
Duox2	T	C	2: 122,117,589 (GRCm39)	D915G	probably benign	Het
Efcab5	A	T	11: 77,063,147 (GRCm39)	M115K	probably benign	Het
Eif2s1	G	A	12: 78,923,959 (GRCm39)	D139N	probably benign	Het
Erg	A	G	16: 95,161,937 (GRCm39)	F390L	probably damaging	Het
Fam193b	A	T	13: 55,690,811 (GRCm39)	S650R	probably damaging	Het
Fbp2	T	A	13: 63,001,875 (GRCm39)	K113N	possibly damaging	Het
Fnbp4	T	G	2: 90,588,716 (GRCm39)	S496A	probably damaging	Het
Gab3	C	A	X: 74,043,701 (GRCm39)	R475L	probably damaging	Het
Gsap	T	C	5: 21,431,837 (GRCm39)		probably benign	Het
Gucy1a2	C	T	9: 3,582,697 (GRCm39)	L160F	probably damaging	Het
Hivep1	C	T	13: 42,337,262 (GRCm39)	A2447V	possibly damaging	Het
Insc	G	T	7: 114,403,828 (GRCm39)		probably null	Het
Jph2	A	G	2: 163,181,605 (GRCm39)	S520P	possibly damaging	Het
Kidins220	T	A	12: 25,037,005 (GRCm39)		probably benign	Het
Krtap29-1	A	G	11: 99,869,438 (GRCm39)	S148P	probably damaging	Het
Ltbp2	A	C	12: 84,840,507 (GRCm39)	C1000G	probably damaging	Het
Map2k3	T	C	11: 60,840,853 (GRCm39)	F294S	probably damaging	Het
Map4k2	C	A	19: 6,392,768 (GRCm39)		probably benign	Het
Mboat2	T	C	12: 25,001,442 (GRCm39)	V281A	probably benign	Het
Mdga2	G	A	12: 66,615,691 (GRCm39)	R570*	probably null	Het
Mlxipl	A	G	5: 135,135,859 (GRCm39)	D28G	probably damaging	Het
Morc2b	T	C	17: 33,355,734 (GRCm39)	I679M	probably benign	Het
Myh4	T	C	11: 67,137,192 (GRCm39)		probably benign	Het
Nfib	A	C	4: 82,416,852 (GRCm39)	L61R	probably damaging	Het
Noc2l	C	A	4: 156,325,907 (GRCm39)	Y227*	probably null	Het
Nrde2	A	G	12: 100,108,491 (GRCm39)	S367P	probably damaging	Het
Nup93	C	A	8: 94,970,367 (GRCm39)	P89T	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Or10a2	A	T	7: 106,673,826 (GRCm39)	K264*	probably null	Het
Or11h4	T	A	14: 50,974,033 (GRCm39)	E195D	possibly damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k77	A	G	2: 111,199,440 (GRCm39)	I154M	probably benign	Het
Or6b9	A	T	7: 106,555,494 (GRCm39)	Y216*	probably null	Het
Or9r7	A	G	10: 129,962,074 (GRCm39)	I284T	possibly damaging	Het
Oxct1	G	T	15: 4,122,007 (GRCm39)	A319S	probably null	Het
P2ry10	A	G	X: 106,146,859 (GRCm39)	S265G	probably benign	Het
Peak1	A	T	9: 56,166,043 (GRCm39)	N628K	probably damaging	Het
Pkdrej	T	A	15: 85,705,432 (GRCm39)	Q168L	probably benign	Het
Plaat5	T	C	19: 7,590,003 (GRCm39)	S10P	possibly damaging	Het
Plec	A	G	15: 76,073,126 (GRCm39)	M604T	probably benign	Het
Pmfbp1	A	T	8: 110,258,735 (GRCm39)	N680I	possibly damaging	Het
Pnma8b	T	C	7: 16,679,714 (GRCm39)	W233R	probably damaging	Het
Pxn	A	G	5: 115,683,726 (GRCm39)	N186S	probably benign	Het
Rsad1	A	C	11: 94,439,951 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,046,229 (GRCm39)	I112T	probably benign	Het
S1pr2	A	T	9: 20,878,790 (GRCm39)	L346Q	probably damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Slc36a4	T	A	9: 15,638,276 (GRCm39)	F234Y	probably damaging	Het
Slitrk2	T	A	X: 65,698,235 (GRCm39)	V242D	probably damaging	Het
Sp100	A	G	1: 85,608,863 (GRCm39)		probably null	Het
Spryd3	A	C	15: 102,026,616 (GRCm39)	L352V	probably benign	Het
Ssc4d	A	C	5: 135,999,171 (GRCm39)	W11G	possibly damaging	Het
Stx17	T	A	4: 48,158,870 (GRCm39)	D83E	probably damaging	Het
Tlk2	A	T	11: 105,131,266 (GRCm39)	Q204L	probably benign	Het
Tnfrsf21	A	T	17: 43,348,829 (GRCm39)	H147L	possibly damaging	Het
Tnrc18	A	T	5: 142,751,842 (GRCm39)	D1154E	unknown	Het
Trap1	A	G	16: 3,886,200 (GRCm39)	S86P	probably benign	Het
Trim32	T	A	4: 65,533,013 (GRCm39)	C523*	probably null	Het
Ttc38	G	T	15: 85,722,989 (GRCm39)	D146Y	probably damaging	Het
Ttc9	T	A	12: 81,678,570 (GRCm39)	L131Q	probably damaging	Het
Ttn	T	C	2: 76,557,192 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubash3b	G	A	9: 40,954,869 (GRCm39)	P92S	possibly damaging	Het
Ubr4	T	A	4: 139,206,851 (GRCm39)	H4899Q	possibly damaging	Het
Ufl1	C	T	4: 25,269,036 (GRCm39)	G265D	possibly damaging	Het
Vmn2r27	T	A	6: 124,201,442 (GRCm39)	I172F	probably damaging	Het
Vmn2r6	A	T	3: 64,463,519 (GRCm39)	H438Q	possibly damaging	Het
Vmn2r61	A	G	7: 41,949,425 (GRCm39)	D615G	probably benign	Het
Wdr24	T	A	17: 26,045,256 (GRCm39)	D330E	probably damaging	Het
Zbbx	A	T	3: 74,985,719 (GRCm39)	N444K	probably benign	Het
Zc3h7b	A	T	15: 81,676,529 (GRCm39)	Q757L	probably damaging	Het
Zpld2	T	G	4: 133,929,252 (GRCm39)	N351T	possibly 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
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
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'- CCAGCCAGACTAATTAGCTTTCC -3'
(R):5'- AAACCTGGCCTTTAAAGGGG -3'

Sequencing Primer
(F):5'- CAGACTAATTAGCTTTCCTAGGCAGG -3'
(R):5'- AGACTAAATTCTTTGAGACCCCTGC -3'

Posted On

2014-09-17