Incidental Mutation 'IGL01067:Ube4a'
| ID |
51862 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ube4a
|
| Ensembl Gene |
ENSMUSG00000059890 |
| Gene Name |
ubiquitination factor E4A |
| Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44856163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 523
(Y523F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000138559]
[ENSMUST00000145657]
[ENSMUST00000154287]
|
| AlphaFold |
E9Q735 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117506
AA Change: Y504F
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: Y504F
| 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: Y523F
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: Y523F
| 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 damaging
Transcript: ENSMUST00000154287
AA Change: Y523F
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890
AA Change: Y523F
| 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 |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| A330008L17Rik |
T |
C |
8: 100,148,586 (GRCm39) |
|
noncoding transcript |
Het |
| Acp4 |
C |
T |
7: 43,902,876 (GRCm39) |
V331I |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,629,807 (GRCm39) |
V128A |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,686,026 (GRCm39) |
K280E |
probably damaging |
Het |
| Bfar |
T |
C |
16: 13,503,105 (GRCm39) |
C36R |
probably damaging |
Het |
| Car14 |
A |
G |
3: 95,806,128 (GRCm39) |
I311T |
probably damaging |
Het |
| Cd300c |
T |
C |
11: 114,851,253 (GRCm39) |
|
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,383,096 (GRCm39) |
E513V |
probably damaging |
Het |
| Clip1 |
C |
A |
5: 123,768,867 (GRCm39) |
K612N |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,056,411 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
T |
9: 106,959,572 (GRCm39) |
|
probably null |
Het |
| Dph6 |
A |
T |
2: 114,478,290 (GRCm39) |
M17K |
probably damaging |
Het |
| Enkur |
T |
C |
2: 21,194,042 (GRCm39) |
Q177R |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,262,958 (GRCm39) |
H800R |
probably damaging |
Het |
| Fastkd2 |
T |
G |
1: 63,776,930 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
A |
T |
1: 170,795,622 (GRCm39) |
N102K |
possibly damaging |
Het |
| Fezf1 |
C |
T |
6: 23,247,842 (GRCm39) |
V78I |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,330,885 (GRCm39) |
D425V |
unknown |
Het |
| Fnta |
G |
A |
8: 26,497,229 (GRCm39) |
Q207* |
probably null |
Het |
| Fpr3 |
T |
A |
17: 18,190,828 (GRCm39) |
V33D |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,292,821 (GRCm39) |
C619Y |
possibly damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,358 (GRCm39) |
|
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,629 (GRCm39) |
V193A |
possibly damaging |
Het |
| Il4ra |
A |
G |
7: 125,174,333 (GRCm39) |
T292A |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,818,336 (GRCm39) |
|
probably benign |
Het |
| Marveld3 |
G |
T |
8: 110,688,596 (GRCm39) |
D48E |
possibly damaging |
Het |
| Meox1 |
A |
T |
11: 101,784,599 (GRCm39) |
I78N |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,283,354 (GRCm39) |
H444Q |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,340,466 (GRCm39) |
Q784R |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,714 (GRCm39) |
I107M |
probably benign |
Het |
| Or4k44 |
T |
A |
2: 111,368,359 (GRCm39) |
I92F |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 176,102,445 (GRCm39) |
|
probably benign |
Het |
| Plk1 |
G |
A |
7: 121,768,148 (GRCm39) |
R456H |
probably damaging |
Het |
| Polr2a |
T |
A |
11: 69,638,840 (GRCm39) |
I65F |
possibly damaging |
Het |
| Ptprd |
T |
A |
4: 75,977,922 (GRCm39) |
I196F |
probably damaging |
Het |
| Qsox2 |
T |
C |
2: 26,118,408 (GRCm39) |
N121S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,184,664 (GRCm39) |
L1617S |
probably damaging |
Het |
| Rragc |
T |
C |
4: 123,823,761 (GRCm39) |
F345L |
probably benign |
Het |
| Sass6 |
A |
T |
3: 116,407,605 (GRCm39) |
E240D |
possibly damaging |
Het |
| Shcbp1l |
A |
C |
1: 153,311,770 (GRCm39) |
S308R |
possibly damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,520,804 (GRCm39) |
C224* |
probably null |
Het |
| Slc27a5 |
T |
C |
7: 12,722,999 (GRCm39) |
E567G |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,088,201 (GRCm39) |
N1417K |
possibly damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,791 (GRCm39) |
T214A |
probably damaging |
Het |
| Tjp3 |
C |
A |
10: 81,109,699 (GRCm39) |
V835L |
probably benign |
Het |
| Trpc4 |
C |
A |
3: 54,129,983 (GRCm39) |
Q250K |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,575,506 (GRCm39) |
I25129N |
probably damaging |
Het |
| Zfp971 |
G |
A |
2: 177,665,175 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation