Incidental Mutation 'R9365:Ube4a'
| ID |
708910 |
| 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 # |
R9365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44862191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 150
(H150R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000125642]
[ENSMUST00000138559]
[ENSMUST00000145657]
[ENSMUST00000154287]
[ENSMUST00000213193]
[ENSMUST00000213666]
[ENSMUST00000213890]
[ENSMUST00000214761]
|
| AlphaFold |
E9Q735 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117506
AA Change: H150R
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: H150R
| 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: H169R
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: H169R
| 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: H169R
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145657
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154287
AA Change: H169R
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890
AA Change: H169R
| 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
AA Change: H169R
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213666
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213890
AA Change: H169R
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214761
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
G |
A |
10: 20,848,035 (GRCm39) |
R481Q |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,101,555 (GRCm39) |
I77T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,889,207 (GRCm39) |
V362E |
possibly damaging |
Het |
| Bcat2 |
T |
A |
7: 45,225,294 (GRCm39) |
F57L |
probably damaging |
Het |
| Ccdc73 |
C |
T |
2: 104,738,011 (GRCm39) |
L36F |
probably damaging |
Het |
| Ccl19 |
C |
T |
4: 42,756,288 (GRCm39) |
V15I |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,954,207 (GRCm39) |
V1688E |
possibly damaging |
Het |
| Ces1a |
A |
T |
8: 93,774,727 (GRCm39) |
F4I |
probably benign |
Het |
| Chchd6 |
G |
A |
6: 89,551,413 (GRCm39) |
P83S |
probably benign |
Het |
| Cnr1 |
T |
C |
4: 33,943,798 (GRCm39) |
M62T |
probably benign |
Het |
| Colec12 |
T |
C |
18: 9,848,146 (GRCm39) |
L108P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,894,979 (GRCm39) |
|
probably benign |
Het |
| Dhrs4 |
C |
T |
14: 55,724,776 (GRCm39) |
T181I |
probably benign |
Het |
| Disc1 |
T |
C |
8: 125,851,285 (GRCm39) |
S392P |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,566,859 (GRCm39) |
F69L |
|
Het |
| Ehmt1 |
T |
C |
2: 24,728,722 (GRCm39) |
D726G |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 77,997,957 (GRCm39) |
L462I |
probably damaging |
Het |
| Exoc2 |
A |
T |
13: 31,040,697 (GRCm39) |
S774T |
probably benign |
Het |
| Fam135b |
A |
G |
15: 71,334,813 (GRCm39) |
S794P |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,606,973 (GRCm39) |
V646A |
probably benign |
Het |
| Gm3543 |
G |
T |
14: 41,804,093 (GRCm39) |
D57E |
possibly damaging |
Het |
| Golgb1 |
T |
A |
16: 36,736,124 (GRCm39) |
D1831E |
probably damaging |
Het |
| Hace1 |
T |
G |
10: 45,586,092 (GRCm39) |
|
probably null |
Het |
| Irgc |
T |
C |
7: 24,131,872 (GRCm39) |
E315G |
possibly damaging |
Het |
| Ism1 |
A |
G |
2: 139,582,321 (GRCm39) |
Y211C |
probably damaging |
Het |
| Kpna1 |
T |
G |
16: 35,833,287 (GRCm39) |
V121G |
probably damaging |
Het |
| Lifr |
T |
A |
15: 7,198,521 (GRCm39) |
F250L |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,407 (GRCm39) |
T368A |
probably benign |
Het |
| Lmln |
T |
A |
16: 32,925,169 (GRCm39) |
C467* |
probably null |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,943 (GRCm39) |
E408G |
probably benign |
Het |
| Melk |
C |
T |
4: 44,340,693 (GRCm39) |
A330V |
probably null |
Het |
| Mmp13 |
T |
G |
9: 7,277,921 (GRCm39) |
D271E |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,052,297 (GRCm39) |
T390A |
|
Het |
| Myh8 |
A |
G |
11: 67,174,632 (GRCm39) |
K249R |
probably benign |
Het |
| Nr1h4 |
T |
A |
10: 89,319,315 (GRCm39) |
M184L |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,885,337 (GRCm39) |
|
probably null |
Het |
| Otog |
T |
G |
7: 45,920,688 (GRCm39) |
C964G |
probably damaging |
Het |
| Oxct2b |
T |
C |
4: 123,010,589 (GRCm39) |
S170P |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,087,112 (GRCm39) |
S432P |
possibly damaging |
Het |
| Prb1a |
T |
A |
6: 132,184,201 (GRCm39) |
R477S |
unknown |
Het |
| Prh1 |
G |
A |
6: 132,549,108 (GRCm39) |
G205D |
unknown |
Het |
| Psg23 |
C |
T |
7: 18,344,393 (GRCm39) |
G354D |
probably damaging |
Het |
| Pura |
T |
G |
18: 36,420,913 (GRCm39) |
D233E |
possibly damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,315,117 (GRCm39) |
L423F |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,026,620 (GRCm39) |
S15P |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,148,465 (GRCm39) |
F7L |
probably benign |
Het |
| Sftpb |
A |
T |
6: 72,284,189 (GRCm39) |
R203* |
probably null |
Het |
| Slc30a9 |
A |
G |
5: 67,507,142 (GRCm39) |
K478R |
probably damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,496,333 (GRCm39) |
M156K |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,612,327 (GRCm39) |
I232V |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,461,534 (GRCm39) |
D1527G |
probably benign |
Het |
| Srfbp1 |
T |
G |
18: 52,623,540 (GRCm39) |
V389G |
possibly damaging |
Het |
| Sun2 |
C |
T |
15: 79,622,720 (GRCm39) |
|
probably null |
Het |
| Tep1 |
G |
T |
14: 51,064,597 (GRCm39) |
A2386D |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,564 (GRCm39) |
S1331R |
possibly damaging |
Het |
| Tgm1 |
A |
T |
14: 55,942,349 (GRCm39) |
N667K |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tsen54 |
T |
C |
11: 115,713,410 (GRCm39) |
F438L |
probably damaging |
Het |
| Uty |
T |
C |
Y: 1,099,712 (GRCm39) |
N1161S |
possibly damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,064 (GRCm39) |
D312E |
probably damaging |
Het |
| Wdr55 |
T |
G |
18: 36,893,354 (GRCm39) |
C5W |
probably damaging |
Het |
| Zbtb24 |
C |
A |
10: 41,332,540 (GRCm39) |
P405Q |
probably damaging |
Het |
| Zkscan2 |
T |
A |
7: 123,079,591 (GRCm39) |
I789F |
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 |
|
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 |
|
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'- GACACTGAGCCAACTCTCTC -3'
(R):5'- GCTGTGACTATCCCAGACAC -3'
Sequencing Primer
(F):5'- TCTCTCTCACACATGCTAACATCAC -3'
(R):5'- GACACTGGAGTCTTAATTACAGTAAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation