Mutagenetix > Incidental Mutation

Incidental Mutation 'R7842:Ube4a'

628683

Institutional Source

Beutler Lab

Gene Symbol

Ube4a

Ensembl Gene

ENSMUSG00000059890

Gene Name

ubiquitination factor E4A

Synonyms

UFD2b, 9930123J21Rik, 4732444G18Rik

MMRRC Submission

045896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7842 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44834425-44876898 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 44861025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149791 (fasta)

Gene Model

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

AlphaFold

E9Q735

Predicted Effect

probably null
Transcript: ENSMUST00000117506

SMART Domains

Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890

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

SMART Domains

Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213193

Predicted Effect

probably benign
Transcript: ENSMUST00000213666

Predicted Effect

probably benign
Transcript: ENSMUST00000213890

Predicted Effect

probably benign
Transcript: ENSMUST00000214761

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,855,034 (GRCm39)	T3A	unknown	Het
4933412E24Rik	T	C	15: 59,888,422 (GRCm39)	E6G	probably damaging	Het
Abca6	A	G	11: 110,087,523 (GRCm39)	L1135P	possibly damaging	Het
Agps	A	G	2: 75,681,876 (GRCm39)	D113G	probably damaging	Het
Ankhd1	G	T	18: 36,780,881 (GRCm39)	V1978L	probably benign	Het
Ankrd31	T	A	13: 96,957,966 (GRCm39)		probably null	Het
Arhgap5	T	A	12: 52,565,480 (GRCm39)	M817K	possibly damaging	Het
Bdp1	C	A	13: 100,235,637 (GRCm39)	V105F	probably damaging	Het
Brdt	A	G	5: 107,496,454 (GRCm39)	N189D	possibly damaging	Het
Ccdc180	A	T	4: 45,909,428 (GRCm39)	N532I	probably benign	Het
Ccnc	A	C	4: 21,730,480 (GRCm39)	K39T	probably damaging	Het
Cfap251	T	C	5: 123,392,487 (GRCm39)	V207A	unknown	Het
Cfap57	C	A	4: 118,411,952 (GRCm39)	G1231*	probably null	Het
Chd7	A	T	4: 8,854,115 (GRCm39)	T1896S	probably benign	Het
Clk4	A	T	11: 51,171,956 (GRCm39)	H412L	probably benign	Het
Creld1	T	C	6: 113,465,100 (GRCm39)	L109P	probably damaging	Het
Cxxc4	A	T	3: 133,946,093 (GRCm39)	I225L	possibly damaging	Het
Cyp4f39	A	T	17: 32,702,291 (GRCm39)	R263W	probably benign	Het
Dennd10	G	A	19: 60,819,317 (GRCm39)	A263T	not run	Het
Dip2c	T	C	13: 9,656,569 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,455,463 (GRCm39)	T863A	probably damaging	Het
Dnah17	C	A	11: 117,970,508 (GRCm39)		probably null	Het
Dnajc10	A	G	2: 80,175,409 (GRCm39)	K599E	probably benign	Het
Dnajc7	C	A	11: 100,489,544 (GRCm39)	R101L	probably benign	Het
Dnttip2	G	A	3: 122,069,990 (GRCm39)	E402K	probably benign	Het
Dusp22	T	A	13: 30,852,774 (GRCm39)		probably null	Het
Egflam	C	A	15: 7,280,675 (GRCm39)	R450M	probably null	Het
Eml5	C	T	12: 98,760,394 (GRCm39)	R1785Q	probably damaging	Het
Fam78b	G	T	1: 166,829,178 (GRCm39)	R15L	probably damaging	Het
Fbxl5	A	T	5: 43,915,945 (GRCm39)	I489N	probably damaging	Het
Flt3	G	A	5: 147,271,263 (GRCm39)	P893S	probably damaging	Het
Gm17019	T	C	5: 15,081,049 (GRCm39)	M131V	possibly damaging	Het
Gm21560	T	A	14: 6,216,262 (GRCm38)	I194F	probably benign	Het
Gm28729	T	C	9: 96,399,705 (GRCm39)	D158G	probably damaging	Het
Gucy2c	C	T	6: 136,746,814 (GRCm39)		probably null	Het
Hectd1	C	T	12: 51,819,343 (GRCm39)	G1247S	probably damaging	Het
Ireb2	T	A	9: 54,816,970 (GRCm39)	I946K	probably benign	Het
Itgb4	A	T	11: 115,873,531 (GRCm39)	D249V	probably benign	Het
Klhdc7a	A	G	4: 139,694,549 (GRCm39)	S133P	probably damaging	Het
Lsr	A	T	7: 30,665,437 (GRCm39)	D172E	possibly damaging	Het
Macf1	T	C	4: 123,420,702 (GRCm39)	E184G	probably benign	Het
Map2	T	A	1: 66,455,570 (GRCm39)	D1421E	probably benign	Het
Map3k4	A	T	17: 12,490,030 (GRCm39)	L467H	possibly damaging	Het
Mogat1	T	C	1: 78,499,502 (GRCm39)		probably null	Het
Mxra8	A	G	4: 155,927,367 (GRCm39)	D384G	probably damaging	Het
Myo15b	A	G	11: 115,762,321 (GRCm39)	T1214A		Het
Naip1	T	C	13: 100,563,506 (GRCm39)	Y553C	probably damaging	Het
Nln	A	T	13: 104,189,137 (GRCm39)	I278K	probably benign	Het
Nsmaf	T	A	4: 6,435,109 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,102,553 (GRCm39)	R741G	probably damaging	Het
Or4p8	A	G	2: 88,727,305 (GRCm39)	V212A	possibly damaging	Het
Or52e19b	A	G	7: 103,032,783 (GRCm39)	V142A	probably benign	Het
Or5d38	C	T	2: 87,955,330 (GRCm39)		probably benign	Het
Or8j3	G	T	2: 86,028,516 (GRCm39)	Y193*	probably null	Het
Orc1	A	G	4: 108,462,744 (GRCm39)	H607R	probably benign	Het
Pate2	A	T	9: 35,581,829 (GRCm39)	Y41F	probably damaging	Het
Pcdhb20	A	T	18: 37,638,112 (GRCm39)	T213S	possibly damaging	Het
Pcm1	G	A	8: 41,780,621 (GRCm39)	E1858K	possibly damaging	Het
Pla2g2d	A	G	4: 138,506,089 (GRCm39)	T59A	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Prl2c2	A	G	13: 13,179,907 (GRCm39)	L2P	probably benign	Het
Proz	G	A	8: 13,113,406 (GRCm39)	V76I	probably benign	Het
Prr36	A	G	8: 4,260,953 (GRCm39)	S955P	probably benign	Het
Pter	T	C	2: 12,983,352 (GRCm39)	V119A	probably damaging	Het
Qrich1	T	A	9: 108,433,567 (GRCm39)		probably null	Het
Rbm15b	T	C	9: 106,763,088 (GRCm39)	E360G	probably damaging	Het
Skint11	G	A	4: 114,101,968 (GRCm39)	C327Y	possibly damaging	Het
Spag17	T	A	3: 99,961,174 (GRCm39)	S987T	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Tbx1	T	C	16: 18,405,365 (GRCm39)	S100G	unknown	Het
Tiam2	C	T	17: 3,568,399 (GRCm39)	S1515L	possibly damaging	Het
Togaram1	C	A	12: 65,013,233 (GRCm39)	D161E	probably damaging	Het
Trhde	A	T	10: 114,532,003 (GRCm39)	S366T	possibly damaging	Het
Ttc12	A	G	9: 49,349,724 (GRCm39)	I691T	possibly damaging	Het
Uggt2	A	T	14: 119,235,516 (GRCm39)	I1453N	probably damaging	Het
Unc79	T	C	12: 103,058,313 (GRCm39)	S972P	probably damaging	Het
Wdr20	G	A	12: 110,704,649 (GRCm39)	D63N	probably benign	Het
Wls	T	A	3: 159,578,816 (GRCm39)	I126N	probably benign	Het
Xirp2	A	G	2: 67,355,289 (GRCm39)	D3350G	probably benign	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
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
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'- ACTTCCCAACAATGGTTCTTTGAG -3'
(R):5'- TCGTTGCAGATTACCAAAGTTCC -3'

Sequencing Primer
(F):5'- TGCATGCATGTACCAAGTGC -3'
(R):5'- AGTTCCAGAAAACCTACTCCCCTTTG -3'

Posted On

2020-06-09