Incidental Mutation 'R5774:Ube4a'
| ID |
445565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube4a
|
| Ensembl Gene |
ENSMUSG00000059890 |
| Gene Name |
ubiquitination factor E4A |
| Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
| MMRRC Submission |
043373-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5774 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44864395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 66
(P66L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000125642]
[ENSMUST00000138559]
[ENSMUST00000145657]
[ENSMUST00000154287]
[ENSMUST00000213193]
[ENSMUST00000213890]
[ENSMUST00000213666]
[ENSMUST00000214761]
|
| AlphaFold |
E9Q735 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117506
AA Change: P47L
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: P47L
| 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: P66L
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: P66L
| 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
AA Change: P47L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138559
AA Change: P66L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145657
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154287
AA Change: P66L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890
AA Change: P66L
| 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 benign
Transcript: ENSMUST00000213193
AA Change: P66L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213890
AA Change: P66L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213666
AA Change: P47L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214761
AA Change: P66L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215720
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,581,668 (GRCm39) |
L62M |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,574,285 (GRCm39) |
T949I |
probably damaging |
Het |
| Adam4 |
C |
T |
12: 81,467,460 (GRCm39) |
S387N |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,748,407 (GRCm39) |
S1327G |
probably damaging |
Het |
| Arhgap1 |
A |
G |
2: 91,484,453 (GRCm39) |
T12A |
possibly damaging |
Het |
| Arhgap28 |
A |
G |
17: 68,188,487 (GRCm39) |
S228P |
possibly damaging |
Het |
| Atp6v1b2 |
A |
T |
8: 69,554,613 (GRCm39) |
D106V |
probably damaging |
Het |
| Atp9b |
T |
G |
18: 80,977,147 (GRCm39) |
D3A |
probably damaging |
Het |
| Bptf |
A |
G |
11: 107,001,963 (GRCm39) |
F383S |
probably damaging |
Het |
| Cdh24 |
T |
C |
14: 54,876,514 (GRCm39) |
T104A |
probably damaging |
Het |
| Cep55 |
A |
G |
19: 38,051,103 (GRCm39) |
E171G |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,052,873 (GRCm39) |
M1126K |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,716,184 (GRCm39) |
I59N |
probably damaging |
Het |
| Ddx52 |
A |
G |
11: 83,836,960 (GRCm39) |
I150M |
probably damaging |
Het |
| Dennd6a |
T |
C |
14: 26,300,974 (GRCm39) |
V62A |
probably benign |
Het |
| Dpep1 |
C |
A |
8: 123,926,721 (GRCm39) |
D211E |
probably damaging |
Het |
| Gm1527 |
T |
C |
3: 28,972,239 (GRCm39) |
V452A |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,299,147 (GRCm39) |
V2831A |
possibly damaging |
Het |
| Hrob |
T |
A |
11: 102,146,495 (GRCm39) |
I257N |
possibly damaging |
Het |
| Hydin |
G |
T |
8: 111,298,547 (GRCm39) |
E3722* |
probably null |
Het |
| Il17a |
A |
G |
1: 20,803,997 (GRCm39) |
S131G |
probably benign |
Het |
| Ing3 |
C |
T |
6: 21,967,688 (GRCm39) |
P119S |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,220,679 (GRCm39) |
|
probably null |
Het |
| Lca5l |
G |
T |
16: 95,977,261 (GRCm39) |
Q177K |
probably benign |
Het |
| Lrrc61 |
C |
T |
6: 48,545,133 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,018,106 (GRCm39) |
Y188C |
probably damaging |
Het |
| Mdk |
T |
C |
2: 91,761,569 (GRCm39) |
E36G |
probably damaging |
Het |
| Mmp12 |
T |
C |
9: 7,354,823 (GRCm39) |
I272T |
possibly damaging |
Het |
| Myh4 |
A |
T |
11: 67,144,034 (GRCm39) |
K1135* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,191,060 (GRCm39) |
Y96N |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,384,351 (GRCm39) |
V39E |
possibly damaging |
Het |
| Pank4 |
G |
A |
4: 155,065,119 (GRCm39) |
G806D |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,780 (GRCm39) |
Y396C |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,738 (GRCm39) |
I472N |
probably damaging |
Het |
| Sema3a |
T |
A |
5: 13,573,131 (GRCm39) |
W220R |
probably damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,124 (GRCm39) |
V309A |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,721,981 (GRCm39) |
M394V |
probably damaging |
Het |
| Specc1l |
G |
A |
10: 75,081,234 (GRCm39) |
R210H |
probably damaging |
Het |
| Spocd1 |
T |
A |
4: 129,845,579 (GRCm39) |
S480T |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 119,880,939 (GRCm39) |
|
noncoding transcript |
Het |
| Srrm2 |
A |
G |
17: 24,037,249 (GRCm39) |
|
probably benign |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,698 (GRCm39) |
K779E |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,220,294 (GRCm39) |
F2344I |
probably damaging |
Het |
| Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
| Utp6 |
A |
T |
11: 79,844,424 (GRCm39) |
F200L |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,696,176 (GRCm39) |
H410Q |
probably damaging |
Het |
| Vps33b |
C |
T |
7: 79,935,088 (GRCm39) |
H344Y |
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,552,772 (GRCm39) |
R1145* |
probably null |
Het |
| Zbed4 |
T |
A |
15: 88,665,852 (GRCm39) |
F640Y |
possibly damaging |
Het |
| Zfp618 |
C |
T |
4: 63,050,799 (GRCm39) |
R527C |
probably 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 |
|
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'- TGTAAGCCTGCAACTCACTG -3'
(R):5'- ATTTTGCCAGGGAGGGGTAC -3'
Sequencing Primer
(F):5'- AACTCACTGTTGTCCAGGGTG -3'
(R):5'- GGCAAGATTTACAGCCAGGATTTCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation