Incidental Mutation 'R9314:Ube4a'
| ID |
705788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube4a
|
| Ensembl Gene |
ENSMUSG00000059890 |
| Gene Name |
ubiquitination factor E4A |
| Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9314 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44854023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 573
(T573A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000138559]
[ENSMUST00000145657]
[ENSMUST00000154287]
|
| AlphaFold |
E9Q735 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117506
AA Change: T573A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: T573A
| 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: T592A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: T592A
| 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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
C |
17: 24,547,593 (GRCm39) |
N260K |
possibly damaging |
Het |
| Anapc1 |
G |
A |
2: 128,464,420 (GRCm39) |
S1692L |
possibly damaging |
Het |
| Brca2 |
A |
G |
5: 150,474,359 (GRCm39) |
R2421G |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,234,988 (GRCm39) |
Y2143C |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,178,535 (GRCm39) |
D356V |
possibly damaging |
Het |
| Cd207 |
T |
A |
6: 83,652,699 (GRCm39) |
T144S |
probably damaging |
Het |
| Cntln |
T |
C |
4: 84,924,719 (GRCm39) |
L608P |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,990,857 (GRCm39) |
Y3300F |
probably benign |
Het |
| Emb |
T |
C |
13: 117,408,604 (GRCm39) |
I315T |
probably damaging |
Het |
| Esr1 |
T |
A |
10: 4,916,181 (GRCm39) |
V456E |
possibly damaging |
Het |
| Evpl |
A |
T |
11: 116,118,503 (GRCm39) |
H701Q |
probably benign |
Het |
| F5 |
C |
T |
1: 164,029,146 (GRCm39) |
T1715I |
probably benign |
Het |
| Fut10 |
T |
A |
8: 31,691,504 (GRCm39) |
H116Q |
probably damaging |
Het |
| Gm40460 |
ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,447 (GRCm39) |
|
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,221,884 (GRCm39) |
T62A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,437,708 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
G |
C |
19: 34,576,693 (GRCm39) |
Q3E |
probably benign |
Het |
| Ighg3 |
A |
T |
12: 113,323,946 (GRCm39) |
D147E |
|
Het |
| Ighv8-13 |
A |
G |
12: 115,728,996 (GRCm39) |
V87A |
possibly damaging |
Het |
| Kdelr1 |
A |
G |
7: 45,531,050 (GRCm39) |
T160A |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,372,510 (GRCm39) |
L945P |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,227 (GRCm39) |
W283* |
probably null |
Het |
| Lamp3 |
T |
C |
16: 19,492,192 (GRCm39) |
M351V |
probably benign |
Het |
| Lox |
C |
G |
18: 52,653,911 (GRCm39) |
R395P |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,925,499 (GRCm39) |
|
probably benign |
Het |
| Madcam1 |
C |
A |
10: 79,501,481 (GRCm39) |
T182K |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,029,297 (GRCm39) |
H280Q |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,174 (GRCm39) |
I187T |
probably benign |
Het |
| Muc1 |
T |
C |
3: 89,138,825 (GRCm39) |
V478A |
probably damaging |
Het |
| Mug1 |
T |
G |
6: 121,834,296 (GRCm39) |
V359G |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,151,141 (GRCm39) |
H1932R |
probably benign |
Het |
| Naaladl1 |
A |
C |
19: 6,162,401 (GRCm39) |
N448H |
probably damaging |
Het |
| Or52b1 |
A |
T |
7: 104,979,081 (GRCm39) |
I106N |
probably damaging |
Het |
| Or5a1 |
C |
T |
19: 12,097,144 (GRCm39) |
E311K |
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,829,153 (GRCm39) |
Y1480N |
|
Het |
| Poll |
T |
C |
19: 45,547,091 (GRCm39) |
E127G |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,922,367 (GRCm39) |
N305S |
possibly damaging |
Het |
| Prss53 |
A |
G |
7: 127,490,039 (GRCm39) |
V17A |
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,301,631 (GRCm39) |
V74A |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,064,983 (GRCm39) |
H804L |
possibly damaging |
Het |
| Rassf8 |
A |
G |
6: 145,762,296 (GRCm39) |
T356A |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,786,772 (GRCm39) |
S1246P |
probably benign |
Het |
| Setdb2 |
A |
T |
14: 59,650,240 (GRCm39) |
I458N |
probably benign |
Het |
| Sgtb |
A |
G |
13: 104,254,933 (GRCm39) |
K68E |
possibly damaging |
Het |
| Slc19a3 |
T |
G |
1: 83,000,094 (GRCm39) |
I308L |
possibly damaging |
Het |
| Slc22a5 |
T |
C |
11: 53,762,487 (GRCm39) |
D320G |
possibly damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,218,143 (GRCm39) |
S141P |
possibly damaging |
Het |
| Slc37a2 |
T |
C |
9: 37,150,482 (GRCm39) |
T158A |
possibly damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,269,327 (GRCm39) |
I598V |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,361,158 (GRCm39) |
D282G |
probably damaging |
Het |
| Spty2d1 |
G |
T |
7: 46,648,486 (GRCm39) |
P148T |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,352,250 (GRCm39) |
T310A |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,019,799 (GRCm39) |
D457V |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,347 (GRCm39) |
G2480R |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,487,297 (GRCm39) |
V803A |
probably benign |
Het |
| Tex2 |
A |
T |
11: 106,435,075 (GRCm39) |
C784S |
unknown |
Het |
| Thrb |
A |
G |
14: 17,963,208 (GRCm38) |
H57R |
probably benign |
Het |
| Tmc4 |
T |
C |
7: 3,679,723 (GRCm39) |
T34A |
possibly damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,400,459 (GRCm39) |
N4S |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,049 (GRCm39) |
I1024M |
probably damaging |
Het |
| Trnau1ap |
C |
A |
4: 132,056,697 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,566,710 (GRCm39) |
V28061A |
probably damaging |
Het |
| Txnl4b |
C |
A |
8: 110,299,331 (GRCm39) |
P97Q |
probably benign |
Het |
| Vit |
A |
T |
17: 78,927,044 (GRCm39) |
T330S |
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,050,288 (GRCm39) |
I750V |
probably benign |
Het |
| Zfp59 |
C |
T |
7: 27,554,029 (GRCm39) |
L494F |
possibly 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 |
|
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 |
|
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'- AGGTTGTTTCCAAGGGACAGG -3'
(R):5'- GTGGTCTATACTACACTGCCCC -3'
Sequencing Primer
(F):5'- AGGCTGCTTACCTGGCACATAAG -3'
(R):5'- ATGGGCCTCCCTGACCTAGTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation