Incidental Mutation 'R5908:Ube4a'
| ID |
460791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube4a
|
| Ensembl Gene |
ENSMUSG00000059890 |
| Gene Name |
ubiquitination factor E4A |
| Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
| MMRRC Submission |
044105-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5908 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 44859322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000125642]
[ENSMUST00000138559]
[ENSMUST00000145657]
[ENSMUST00000154287]
[ENSMUST00000213193]
[ENSMUST00000213890]
[ENSMUST00000214761]
|
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000138559
AA Change: V392A
PolyPhen 2
Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
|
| 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: ENSMUST00000213193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214761
|
| Meta Mutation Damage Score |
0.9504 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.8%
|
| Validation Efficiency |
97% (69/71) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,624,730 (GRCm39) |
L198H |
probably damaging |
Het |
| Anks1 |
C |
T |
17: 28,214,993 (GRCm39) |
T480I |
probably damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,503,165 (GRCm39) |
R857Q |
probably damaging |
Het |
| B230208B08Rik |
A |
G |
4: 78,132,297 (GRCm39) |
|
noncoding transcript |
Het |
| B9d2 |
T |
A |
7: 25,382,724 (GRCm39) |
W33R |
probably damaging |
Het |
| Bcl2a1c |
A |
G |
9: 114,159,572 (GRCm39) |
T117A |
probably benign |
Het |
| Btbd8 |
T |
G |
5: 107,655,460 (GRCm39) |
D574E |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,557,366 (GRCm39) |
S1091P |
probably damaging |
Het |
| Clip3 |
C |
A |
7: 29,996,298 (GRCm39) |
D64E |
probably damaging |
Het |
| Col6a5 |
C |
G |
9: 105,740,000 (GRCm39) |
D2540H |
possibly damaging |
Het |
| Commd5 |
A |
T |
15: 76,785,136 (GRCm39) |
M178L |
probably benign |
Het |
| Crtc3 |
T |
A |
7: 80,245,542 (GRCm39) |
H361L |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,049,065 (GRCm39) |
L153Q |
possibly damaging |
Het |
| Eif2s1 |
T |
A |
12: 78,926,817 (GRCm39) |
V189D |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,748,718 (GRCm39) |
A483V |
probably damaging |
Het |
| Foxo3 |
T |
C |
10: 42,072,583 (GRCm39) |
I645V |
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,506 (GRCm39) |
S196P |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,453,717 (GRCm39) |
|
probably null |
Het |
| Il36rn |
G |
T |
2: 24,167,502 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
A |
G |
11: 86,106,371 (GRCm39) |
|
probably null |
Het |
| Khnyn |
A |
G |
14: 56,124,523 (GRCm39) |
D259G |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,871,346 (GRCm39) |
Y2694* |
probably null |
Het |
| Map4k2 |
T |
C |
19: 6,401,346 (GRCm39) |
|
probably benign |
Het |
| Marchf10 |
C |
T |
11: 105,281,065 (GRCm39) |
V407I |
probably benign |
Het |
| Mast4 |
C |
A |
13: 102,874,764 (GRCm39) |
V1367F |
probably damaging |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,366 (GRCm39) |
S62T |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 4,039,392 (GRCm39) |
F801S |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,115,941 (GRCm39) |
S908P |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,031,239 (GRCm39) |
|
probably benign |
Het |
| Nr2e1 |
T |
C |
10: 42,448,765 (GRCm39) |
S158G |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,881,353 (GRCm39) |
I404V |
probably benign |
Het |
| Or13n4 |
T |
C |
7: 106,423,404 (GRCm39) |
T110A |
probably benign |
Het |
| Pik3c2g |
G |
A |
6: 139,714,436 (GRCm39) |
R196H |
|
Het |
| Pik3r3 |
A |
T |
4: 116,129,955 (GRCm39) |
D213V |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,374,501 (GRCm39) |
S27T |
possibly damaging |
Het |
| Pkp1 |
G |
A |
1: 135,846,621 (GRCm39) |
Q44* |
probably null |
Het |
| Pnma8b |
C |
T |
7: 16,680,968 (GRCm39) |
R651C |
unknown |
Het |
| Pnpt1 |
T |
A |
11: 29,080,887 (GRCm39) |
S44T |
probably benign |
Het |
| Polb |
A |
T |
8: 23,132,319 (GRCm39) |
|
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,165,984 (GRCm39) |
N85S |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,853,893 (GRCm39) |
K104E |
probably damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,758,040 (GRCm39) |
Y223F |
probably benign |
Het |
| Rbak |
T |
G |
5: 143,159,391 (GRCm39) |
H554P |
probably damaging |
Het |
| Serpina3c |
T |
C |
12: 104,117,970 (GRCm39) |
R123G |
probably benign |
Het |
| Sh3bp4 |
T |
G |
1: 89,073,605 (GRCm39) |
S818A |
probably damaging |
Het |
| Sh3rf3 |
C |
G |
10: 58,885,270 (GRCm39) |
H384Q |
probably benign |
Het |
| Slc9a8 |
C |
T |
2: 167,293,090 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,103,678 (GRCm39) |
E1181G |
probably benign |
Het |
| Taf2 |
G |
A |
15: 54,935,402 (GRCm39) |
|
probably benign |
Het |
| Taf7l2 |
A |
T |
10: 115,949,133 (GRCm39) |
I131N |
probably benign |
Het |
| Tbc1d9 |
A |
T |
8: 83,976,174 (GRCm39) |
M578L |
probably benign |
Het |
| Tinagl1 |
G |
T |
4: 130,066,763 (GRCm39) |
Y111* |
probably null |
Het |
| Tor2a |
T |
C |
2: 32,651,697 (GRCm39) |
L304P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,067,304 (GRCm39) |
V474A |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,723,518 (GRCm39) |
A325E |
probably damaging |
Het |
| Use1 |
G |
C |
8: 71,822,257 (GRCm39) |
K239N |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,973,563 (GRCm39) |
Q407K |
probably benign |
Het |
| Zfp36l1 |
A |
T |
12: 80,156,449 (GRCm39) |
S311T |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,374 (GRCm39) |
K964E |
probably benign |
Het |
| Zfp974 |
T |
A |
7: 27,610,382 (GRCm39) |
M448L |
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,374,214 (GRCm39) |
V600E |
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 |
|
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'- AGGCTGATTTCTTTGCTGCC -3'
(R):5'- TAGAATACATTCAGCCCAAGGATC -3'
Sequencing Primer
(F):5'- TGGCTGTCCTGGAACTCAAAGATC -3'
(R):5'- CCAAGGATCCCAGCAATGG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation