Incidental Mutation 'R1597:Ube4a'
| ID |
175875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube4a
|
| Ensembl Gene |
ENSMUSG00000059890 |
| Gene Name |
ubiquitination factor E4A |
| Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
| MMRRC Submission |
039634-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1597 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44841064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1009
(D1009E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000145657]
[ENSMUST00000154287]
|
| AlphaFold |
E9Q735 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117506
AA Change: D952E
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: D952E
| 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 |
possibly damaging
Transcript: ENSMUST00000117549
AA Change: D1009E
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: D1009E
| 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: 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 |
|
| Meta Mutation Damage Score |
0.1947 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
100% (77/77) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
A |
T |
19: 34,229,983 (GRCm39) |
|
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,881 (GRCm39) |
N748S |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,086,326 (GRCm39) |
I77N |
probably damaging |
Het |
| Ap1s1 |
A |
T |
5: 137,072,095 (GRCm39) |
M20K |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,835,892 (GRCm39) |
|
probably null |
Het |
| Atp1b1 |
G |
T |
1: 164,265,889 (GRCm39) |
R291S |
probably damaging |
Het |
| Birc7 |
T |
C |
2: 180,570,974 (GRCm39) |
V12A |
possibly damaging |
Het |
| Btnl2 |
T |
C |
17: 34,582,211 (GRCm39) |
V259A |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,377,343 (GRCm39) |
N434K |
probably benign |
Het |
| Cel |
G |
T |
2: 28,450,479 (GRCm39) |
|
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,271,074 (GRCm39) |
K349E |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,239,768 (GRCm39) |
V315A |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,994,324 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,595,474 (GRCm39) |
T441A |
probably benign |
Het |
| Ermap |
A |
T |
4: 119,041,152 (GRCm39) |
I286N |
probably damaging |
Het |
| Fbxl17 |
T |
C |
17: 63,794,813 (GRCm39) |
K423R |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,561,940 (GRCm39) |
T856A |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,543,901 (GRCm39) |
E64G |
probably damaging |
Het |
| Gzma |
T |
A |
13: 113,232,331 (GRCm39) |
N190I |
probably damaging |
Het |
| Ifngr1 |
C |
T |
10: 19,485,090 (GRCm39) |
T363M |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,782,732 (GRCm39) |
T690A |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,823,074 (GRCm39) |
E485G |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,123,336 (GRCm39) |
I203M |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,438,647 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
C |
T |
16: 32,770,781 (GRCm39) |
Q128* |
probably null |
Het |
| Lrriq4 |
C |
G |
3: 30,705,037 (GRCm39) |
P355R |
probably damaging |
Het |
| Mcm10 |
A |
T |
2: 5,003,563 (GRCm39) |
H551Q |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,319,060 (GRCm39) |
F763L |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,156,758 (GRCm39) |
V55E |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,931,016 (GRCm39) |
N92K |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,815,560 (GRCm39) |
S667P |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,753,317 (GRCm39) |
Y15N |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,256,329 (GRCm39) |
M197L |
probably damaging |
Het |
| N4bp2 |
C |
T |
5: 65,964,483 (GRCm39) |
T844I |
probably benign |
Het |
| Nlrc3 |
T |
A |
16: 3,781,859 (GRCm39) |
R517W |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,573,995 (GRCm39) |
I227F |
probably damaging |
Het |
| Or52a5 |
A |
G |
7: 103,427,267 (GRCm39) |
F95S |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,906,953 (GRCm39) |
N73D |
probably damaging |
Het |
| Pcdhb18 |
A |
G |
18: 37,624,820 (GRCm39) |
R717G |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,413,964 (GRCm39) |
M1702L |
probably benign |
Het |
| Plxna2 |
A |
C |
1: 194,431,614 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,630,755 (GRCm39) |
M1221T |
possibly damaging |
Het |
| Polr2b |
A |
G |
5: 77,473,948 (GRCm39) |
D384G |
probably damaging |
Het |
| Ppl |
T |
A |
16: 4,925,438 (GRCm39) |
H67L |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,757,035 (GRCm39) |
L63S |
probably damaging |
Het |
| Psme1 |
A |
G |
14: 55,818,222 (GRCm39) |
T150A |
probably damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,621,940 (GRCm39) |
R33C |
probably damaging |
Het |
| Rela |
G |
A |
19: 5,695,359 (GRCm39) |
R295H |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,320,421 (GRCm39) |
V326E |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,391,563 (GRCm39) |
R43L |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,143 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,283,587 (GRCm39) |
A469T |
probably benign |
Het |
| Spaca7 |
G |
T |
8: 12,630,991 (GRCm39) |
E48* |
probably null |
Het |
| Syn3 |
G |
T |
10: 85,970,908 (GRCm39) |
T238K |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,470,626 (GRCm39) |
S60P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,151,128 (GRCm39) |
I256T |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,552,196 (GRCm39) |
|
probably null |
Het |
| Tex15 |
A |
G |
8: 34,061,511 (GRCm39) |
T588A |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,780,004 (GRCm39) |
|
probably benign |
Het |
| Tmem62 |
G |
A |
2: 120,814,843 (GRCm39) |
A169T |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,924,621 (GRCm39) |
S1026P |
probably benign |
Het |
| Tnik |
T |
C |
3: 28,658,418 (GRCm39) |
S568P |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,804,888 (GRCm39) |
I947F |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,170,402 (GRCm39) |
L832Q |
possibly damaging |
Het |
| U2surp |
C |
T |
9: 95,363,793 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,965,262 (GRCm39) |
E192G |
probably benign |
Het |
| Vmn2r71 |
T |
C |
7: 85,273,352 (GRCm39) |
V722A |
possibly damaging |
Het |
| Zfp386 |
T |
C |
12: 116,023,709 (GRCm39) |
S476P |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,786,199 (GRCm39) |
V116D |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,644,755 (GRCm39) |
N1149I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAACACAGATGTAGTTCTGAGGCGG -3'
(R):5'- TGCCAGCAGTCACACCAGAATG -3'
Sequencing Primer
(F):5'- GCTCTGTGAGTGGGCATACC -3'
(R):5'- aaaagaaaagaaaggaaaaaagaggg -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation