Incidental Mutation 'R1871:Ube4a'
ID |
210749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube4a
|
Ensembl Gene |
ENSMUSG00000059890 |
Gene Name |
ubiquitination factor E4A |
Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
MMRRC Submission |
039893-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1871 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 44856235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000117549]
[ENSMUST00000117549]
[ENSMUST00000117549]
[ENSMUST00000138559]
[ENSMUST00000145657]
[ENSMUST00000145657]
[ENSMUST00000154287]
[ENSMUST00000154287]
|
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: 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 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 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 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: ENSMUST00000138559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145657
|
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: 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: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.2%
|
Validation Efficiency |
97% (87/90) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930009A15Rik |
A |
G |
10: 115,415,699 (GRCm39) |
|
probably null |
Het |
Abca13 |
A |
T |
11: 9,242,134 (GRCm39) |
E1332D |
probably benign |
Het |
Abce1 |
G |
A |
8: 80,411,897 (GRCm39) |
Q588* |
probably null |
Het |
Acads |
A |
T |
5: 115,255,701 (GRCm39) |
C45S |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,078,132 (GRCm39) |
Y697* |
probably null |
Het |
Adamts12 |
T |
C |
15: 11,311,240 (GRCm39) |
S1166P |
probably benign |
Het |
Ano4 |
T |
A |
10: 88,828,889 (GRCm39) |
I517F |
probably damaging |
Het |
Arpc1a |
T |
A |
5: 145,043,901 (GRCm39) |
C344S |
possibly damaging |
Het |
Blk |
A |
T |
14: 63,613,364 (GRCm39) |
S381R |
possibly damaging |
Het |
Capn15 |
C |
A |
17: 26,183,203 (GRCm39) |
W426L |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,832,176 (GRCm39) |
T999A |
probably damaging |
Het |
Clca3a2 |
A |
G |
3: 144,503,398 (GRCm39) |
Y851H |
probably benign |
Het |
Crp |
T |
A |
1: 172,526,172 (GRCm39) |
W86R |
possibly damaging |
Het |
Ctnnal1 |
G |
A |
4: 56,812,534 (GRCm39) |
L705F |
probably benign |
Het |
Cyp2c66 |
A |
G |
19: 39,151,858 (GRCm39) |
D191G |
possibly damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,853,639 (GRCm39) |
D441G |
probably damaging |
Het |
D130040H23Rik |
T |
A |
8: 69,755,354 (GRCm39) |
I253N |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,331,859 (GRCm39) |
Y2148* |
probably null |
Het |
Eef1g |
A |
T |
19: 8,955,330 (GRCm39) |
D393V |
possibly damaging |
Het |
Elapor2 |
A |
G |
5: 9,468,007 (GRCm39) |
E225G |
probably damaging |
Het |
Ephx2 |
A |
T |
14: 66,322,183 (GRCm39) |
I538N |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,035,221 (GRCm39) |
S2958T |
possibly damaging |
Het |
Foxi1 |
A |
T |
11: 34,157,937 (GRCm39) |
N29K |
possibly damaging |
Het |
Gm10287 |
G |
T |
3: 148,930,373 (GRCm39) |
|
noncoding transcript |
Het |
Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
Gmcl1 |
T |
C |
6: 86,674,498 (GRCm39) |
D460G |
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,820,426 (GRCm39) |
D641G |
probably damaging |
Het |
Heph |
C |
A |
X: 95,542,690 (GRCm39) |
S561Y |
probably benign |
Het |
Hgfac |
A |
G |
5: 35,200,257 (GRCm39) |
*90W |
probably null |
Het |
Hp1bp3 |
C |
G |
4: 137,949,497 (GRCm39) |
P65R |
probably damaging |
Het |
Ighv6-4 |
T |
A |
12: 114,370,221 (GRCm39) |
Y58F |
probably benign |
Het |
Jrk |
T |
C |
15: 74,578,412 (GRCm39) |
D291G |
possibly damaging |
Het |
Kdm4d |
A |
G |
9: 14,375,679 (GRCm39) |
Y60H |
probably damaging |
Het |
Khdrbs3 |
T |
C |
15: 68,921,291 (GRCm39) |
Y203H |
probably damaging |
Het |
Klhl6 |
A |
T |
16: 19,775,793 (GRCm39) |
V255D |
possibly damaging |
Het |
Krt9 |
C |
T |
11: 100,081,614 (GRCm39) |
R305H |
probably damaging |
Het |
Lama2 |
T |
G |
10: 26,860,490 (GRCm39) |
N2999T |
probably damaging |
Het |
Letm2 |
A |
G |
8: 26,086,460 (GRCm39) |
|
probably benign |
Het |
Lipa |
A |
T |
19: 34,488,328 (GRCm39) |
L106Q |
probably damaging |
Het |
Llph |
A |
T |
10: 120,067,141 (GRCm39) |
N86I |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,826,297 (GRCm39) |
N1601K |
probably benign |
Het |
Mc1r |
T |
A |
8: 124,134,275 (GRCm39) |
S9R |
probably benign |
Het |
Mfsd14a |
A |
G |
3: 116,434,969 (GRCm39) |
I249T |
probably benign |
Het |
Mtfp1 |
G |
A |
11: 4,044,012 (GRCm39) |
R73C |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,555,540 (GRCm39) |
Q877R |
probably benign |
Het |
Nalcn |
A |
C |
14: 123,831,965 (GRCm39) |
V103G |
possibly damaging |
Het |
Ndst3 |
A |
T |
3: 123,355,673 (GRCm39) |
F119I |
probably damaging |
Het |
Or8k16 |
A |
G |
2: 85,520,655 (GRCm39) |
N294S |
probably damaging |
Het |
Patl1 |
T |
C |
19: 11,902,596 (GRCm39) |
|
probably benign |
Het |
Pcdhb2 |
A |
T |
18: 37,430,408 (GRCm39) |
|
probably null |
Het |
Pcdhb22 |
A |
C |
18: 37,652,200 (GRCm39) |
T223P |
probably damaging |
Het |
Pcdhga1 |
T |
A |
18: 37,973,143 (GRCm39) |
N907K |
probably damaging |
Het |
Pfas |
T |
C |
11: 68,882,795 (GRCm39) |
D782G |
probably damaging |
Het |
Plpp6 |
T |
C |
19: 28,941,684 (GRCm39) |
F95S |
probably damaging |
Het |
Polr2b |
T |
A |
5: 77,474,374 (GRCm39) |
|
probably benign |
Het |
Qars1 |
T |
G |
9: 108,391,315 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
A |
G |
10: 58,328,383 (GRCm39) |
I2800V |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,340,955 (GRCm39) |
V3532A |
probably benign |
Het |
Rubcnl |
T |
C |
14: 75,279,849 (GRCm39) |
S411P |
possibly damaging |
Het |
Scn1a |
C |
A |
2: 66,148,369 (GRCm39) |
G1059W |
probably damaging |
Het |
Sgms1 |
C |
T |
19: 32,137,282 (GRCm39) |
V95I |
probably benign |
Het |
Siglecf |
A |
G |
7: 43,004,967 (GRCm39) |
N399S |
probably benign |
Het |
Slc29a4 |
T |
C |
5: 142,707,243 (GRCm39) |
*529R |
probably null |
Het |
Slfn9 |
G |
T |
11: 82,872,402 (GRCm39) |
T778N |
probably benign |
Het |
Sorl1 |
G |
A |
9: 41,881,021 (GRCm39) |
Q2167* |
probably null |
Het |
Stkld1 |
A |
G |
2: 26,827,985 (GRCm39) |
|
probably benign |
Het |
Taar8b |
T |
C |
10: 23,967,900 (GRCm39) |
Y98C |
probably damaging |
Het |
Tecta |
G |
A |
9: 42,248,472 (GRCm39) |
L1977F |
probably damaging |
Het |
Tecta |
G |
C |
9: 42,248,636 (GRCm39) |
T1917R |
probably damaging |
Het |
Topaz1 |
T |
A |
9: 122,628,544 (GRCm39) |
S1544T |
probably benign |
Het |
Tpx2 |
T |
C |
2: 152,735,523 (GRCm39) |
I717T |
probably damaging |
Het |
Tyk2 |
A |
T |
9: 21,032,737 (GRCm39) |
V342E |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,549,876 (GRCm39) |
R711S |
possibly damaging |
Het |
Ush2a |
C |
A |
1: 188,558,665 (GRCm39) |
D3631E |
probably benign |
Het |
Usp34 |
A |
G |
11: 23,314,479 (GRCm39) |
H807R |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,642,028 (GRCm39) |
T2200A |
probably benign |
Het |
Wif1 |
A |
G |
10: 120,920,824 (GRCm39) |
I215M |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,928,050 (GRCm39) |
T1134A |
probably damaging |
Het |
Xxylt1 |
A |
G |
16: 30,776,235 (GRCm39) |
V367A |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,601,412 (GRCm39) |
K119* |
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 |
|
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 |
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 |
|
Posted On |
2014-06-30 |