Incidental Mutation 'R1611:Ube4a'
ID |
176800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube4a
|
Ensembl Gene |
ENSMUSG00000059890 |
Gene Name |
ubiquitination factor E4A |
Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
MMRRC Submission |
039648-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1611 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 44868035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151085
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000125642]
[ENSMUST00000138559]
[ENSMUST00000145657]
[ENSMUST00000154287]
[ENSMUST00000213193]
[ENSMUST00000213890]
[ENSMUST00000213666]
[ENSMUST00000214761]
|
AlphaFold |
E9Q735 |
Predicted Effect |
probably benign
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 benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000155400
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213193
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213890
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215720
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213666
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214761
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
Validation Efficiency |
97% (75/77) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
T |
11: 54,216,390 (GRCm39) |
I186F |
possibly damaging |
Het |
Actr6 |
T |
A |
10: 89,568,064 (GRCm39) |
K14* |
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,707,236 (GRCm39) |
V1390E |
probably damaging |
Het |
Akap1 |
C |
T |
11: 88,736,104 (GRCm39) |
R186K |
probably benign |
Het |
Alg10b |
T |
A |
15: 90,109,984 (GRCm39) |
V99D |
probably damaging |
Het |
Atp2c1 |
C |
T |
9: 105,320,051 (GRCm39) |
G407S |
probably damaging |
Het |
Atp9a |
T |
C |
2: 168,515,489 (GRCm39) |
M401V |
probably damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Bclaf1 |
T |
C |
10: 20,198,998 (GRCm39) |
|
probably benign |
Het |
Bcr |
T |
A |
10: 74,961,034 (GRCm39) |
|
probably null |
Het |
Bivm |
T |
C |
1: 44,165,907 (GRCm39) |
I119T |
possibly damaging |
Het |
Cacna1h |
A |
G |
17: 25,600,445 (GRCm39) |
I1632T |
probably damaging |
Het |
Capn9 |
G |
A |
8: 125,338,251 (GRCm39) |
V537M |
possibly damaging |
Het |
Cdk11b |
G |
A |
4: 155,726,032 (GRCm39) |
|
probably benign |
Het |
Cdk18 |
T |
A |
1: 132,050,113 (GRCm39) |
I21F |
probably damaging |
Het |
Cep85l |
T |
C |
10: 53,224,777 (GRCm39) |
T271A |
probably benign |
Het |
Chrm5 |
T |
C |
2: 112,309,532 (GRCm39) |
N528S |
possibly damaging |
Het |
Cpsf6 |
T |
A |
10: 117,197,733 (GRCm39) |
|
probably benign |
Het |
Cpt1c |
T |
C |
7: 44,609,536 (GRCm39) |
T689A |
probably benign |
Het |
D030068K23Rik |
T |
C |
8: 109,975,935 (GRCm39) |
Y64C |
unknown |
Het |
Ddb1 |
T |
A |
19: 10,604,128 (GRCm39) |
|
probably null |
Het |
Ddb1 |
T |
A |
19: 10,590,252 (GRCm39) |
C260S |
probably damaging |
Het |
Depdc5 |
C |
A |
5: 33,148,297 (GRCm39) |
Q1478K |
probably damaging |
Het |
Diaph1 |
A |
C |
18: 38,033,755 (GRCm39) |
M247R |
unknown |
Het |
Dnai3 |
T |
C |
3: 145,801,113 (GRCm39) |
Y115C |
probably damaging |
Het |
Dusp8 |
T |
C |
7: 141,636,694 (GRCm39) |
S299G |
probably benign |
Het |
Erbb4 |
C |
A |
1: 68,079,547 (GRCm39) |
G1178C |
probably damaging |
Het |
Exoc7 |
A |
T |
11: 116,186,091 (GRCm39) |
I370N |
possibly damaging |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Gm12353 |
T |
A |
4: 19,631,843 (GRCm39) |
Y27* |
probably null |
Het |
Gnl1 |
C |
T |
17: 36,298,441 (GRCm39) |
T395I |
probably damaging |
Het |
Hpse2 |
G |
A |
19: 42,777,504 (GRCm39) |
T554I |
probably damaging |
Het |
Hsd17b11 |
T |
C |
5: 104,157,765 (GRCm39) |
I116V |
probably benign |
Het |
Inava |
G |
A |
1: 136,143,855 (GRCm39) |
P527L |
probably damaging |
Het |
Kif24 |
A |
T |
4: 41,423,552 (GRCm39) |
V233E |
probably benign |
Het |
Klhl5 |
A |
G |
5: 65,321,992 (GRCm39) |
T673A |
probably benign |
Het |
Kmt2c |
C |
A |
5: 25,564,309 (GRCm39) |
|
probably null |
Het |
Lipg |
T |
C |
18: 75,081,130 (GRCm39) |
N317S |
possibly damaging |
Het |
Lpin1 |
A |
T |
12: 16,627,219 (GRCm39) |
L109Q |
probably null |
Het |
Lyst |
A |
G |
13: 13,809,482 (GRCm39) |
E384G |
probably damaging |
Het |
Mical2 |
T |
A |
7: 111,980,671 (GRCm39) |
I105N |
probably damaging |
Het |
Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
Naa35 |
G |
T |
13: 59,776,747 (GRCm39) |
R574L |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,187,084 (GRCm39) |
|
probably benign |
Het |
Nedd9 |
T |
A |
13: 41,470,406 (GRCm39) |
D249V |
probably benign |
Het |
Nsg1 |
T |
A |
5: 38,296,060 (GRCm39) |
K38* |
probably null |
Het |
Nup155 |
T |
A |
15: 8,159,644 (GRCm39) |
D518E |
probably damaging |
Het |
Or5i1 |
T |
A |
2: 87,612,968 (GRCm39) |
I28N |
probably benign |
Het |
Ovol1 |
T |
A |
19: 5,601,098 (GRCm39) |
H231L |
probably damaging |
Het |
Parg |
A |
G |
14: 31,960,527 (GRCm39) |
I586V |
probably damaging |
Het |
Pde7b |
T |
C |
10: 20,310,236 (GRCm39) |
N242S |
probably benign |
Het |
Pias3 |
T |
A |
3: 96,607,013 (GRCm39) |
|
probably null |
Het |
Pramel13 |
A |
T |
4: 144,119,382 (GRCm39) |
V395E |
probably benign |
Het |
Ptprf |
A |
G |
4: 118,093,430 (GRCm39) |
V404A |
probably benign |
Het |
Rigi |
T |
C |
4: 40,223,862 (GRCm39) |
Y339C |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,442,625 (GRCm39) |
L259P |
probably damaging |
Het |
Rps6ka5 |
C |
G |
12: 100,537,111 (GRCm39) |
V540L |
possibly damaging |
Het |
Ryr3 |
C |
T |
2: 112,483,850 (GRCm39) |
D3966N |
possibly damaging |
Het |
Samd9l |
A |
T |
6: 3,373,771 (GRCm39) |
S1163R |
probably benign |
Het |
Serpinb9g |
T |
C |
13: 33,676,857 (GRCm39) |
I213T |
possibly damaging |
Het |
Sil1 |
A |
T |
18: 35,402,141 (GRCm39) |
V331E |
possibly damaging |
Het |
Ski |
A |
G |
4: 155,244,395 (GRCm39) |
F410S |
probably damaging |
Het |
Slc25a25 |
C |
T |
2: 32,310,391 (GRCm39) |
E123K |
probably damaging |
Het |
Slfnl1 |
A |
G |
4: 120,390,574 (GRCm39) |
E75G |
probably benign |
Het |
Sp1 |
T |
A |
15: 102,339,370 (GRCm39) |
I436N |
probably damaging |
Het |
Taf4b |
A |
T |
18: 14,977,526 (GRCm39) |
E766V |
probably null |
Het |
Tgfbr1 |
A |
G |
4: 47,396,526 (GRCm39) |
Y180C |
probably damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,011,958 (GRCm39) |
C606* |
probably null |
Het |
Zfp341 |
C |
A |
2: 154,487,623 (GRCm39) |
H702Q |
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 |
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 |
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 |
2014-04-24 |