Incidental Mutation 'R4365:Ube4a'
| ID |
325708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube4a
|
| Ensembl Gene |
ENSMUSG00000059890 |
| Gene Name |
ubiquitination factor E4A |
| Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
| MMRRC Submission |
041113-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4365 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44871379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 7
(N7D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000125642]
[ENSMUST00000138559]
[ENSMUST00000145657]
[ENSMUST00000154287]
[ENSMUST00000213193]
[ENSMUST00000213890]
[ENSMUST00000214761]
[ENSMUST00000213666]
|
| AlphaFold |
E9Q735 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117506
AA Change: N7D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: N7D
| 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 damaging
Transcript: ENSMUST00000117549
AA Change: N7D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: N7D
| 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 damaging
Transcript: ENSMUST00000125642
AA Change: N7D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138559
AA Change: N7D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145657
AA Change: N7D
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154287
AA Change: N7D
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890
AA Change: N7D
| 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 damaging
Transcript: ENSMUST00000213193
AA Change: N7D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213890
AA Change: N7D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214761
AA Change: N7D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213666
AA Change: N7D
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215720
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
A |
T |
12: 8,066,083 (GRCm39) |
I4318F |
possibly damaging |
Het |
| Btrc |
G |
A |
19: 45,501,919 (GRCm39) |
D213N |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,953,717 (GRCm39) |
I964F |
possibly damaging |
Het |
| Cacna1f |
G |
T |
X: 7,476,213 (GRCm39) |
A123S |
probably damaging |
Het |
| Ccdc153 |
G |
A |
9: 44,154,889 (GRCm39) |
A71T |
probably damaging |
Het |
| Celsr3 |
C |
A |
9: 108,707,046 (GRCm39) |
D1176E |
possibly damaging |
Het |
| Cfap46 |
A |
C |
7: 139,230,868 (GRCm39) |
V920G |
probably damaging |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Dnajb12 |
T |
C |
10: 59,715,588 (GRCm39) |
F30S |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,406 (GRCm39) |
R401G |
probably benign |
Het |
| F5 |
A |
G |
1: 164,012,519 (GRCm39) |
T478A |
probably damaging |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,699,108 (GRCm39) |
S307R |
probably damaging |
Het |
| Lrit2 |
T |
A |
14: 36,794,076 (GRCm39) |
L380Q |
probably damaging |
Het |
| Ncan |
A |
G |
8: 70,567,861 (GRCm39) |
S84P |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,250,771 (GRCm39) |
I304V |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,772 (GRCm39) |
D16G |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,377 (GRCm39) |
D397G |
probably benign |
Het |
| Obsl1 |
A |
C |
1: 75,464,693 (GRCm39) |
L1576R |
possibly damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,313 (GRCm39) |
I71F |
probably benign |
Het |
| Or5v1 |
T |
C |
17: 37,810,270 (GRCm39) |
S243P |
probably damaging |
Het |
| Or6c212 |
A |
G |
10: 129,559,281 (GRCm39) |
I44T |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,685,726 (GRCm39) |
E731G |
probably damaging |
Het |
| Rag1 |
T |
A |
2: 101,473,288 (GRCm39) |
K618M |
probably damaging |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,590,744 (GRCm39) |
K36E |
probably benign |
Het |
| S100a9 |
T |
C |
3: 90,600,081 (GRCm39) |
H105R |
unknown |
Het |
| Spindoc |
T |
C |
19: 7,351,219 (GRCm39) |
D246G |
possibly damaging |
Het |
| St8sia4 |
A |
T |
1: 95,519,517 (GRCm39) |
Y324N |
possibly damaging |
Het |
| Tlr11 |
T |
A |
14: 50,598,926 (GRCm39) |
I304N |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,955,694 (GRCm39) |
T1090A |
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 |
|
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 |
|
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'- CCTAAAGAACCCTTCCTCTGG -3'
(R):5'- AGCTGGTAACTGTCTTGCC -3'
Sequencing Primer
(F):5'- TCCTCTGGGAAGATCCGG -3'
(R):5'- GAACAGGAATTGGCATGTGTTACTCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation