Incidental Mutation 'R8223:Ube4a'
| ID |
636832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube4a
|
| Ensembl Gene |
ENSMUSG00000059890 |
| Gene Name |
ubiquitination factor E4A |
| Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
| MMRRC Submission |
067641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8223 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44871333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 22
(L22P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000125642]
[ENSMUST00000145657]
[ENSMUST00000154287]
|
| AlphaFold |
E9Q735 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117506
AA Change: L22P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: L22P
| 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: L22P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: L22P
| 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 |
possibly damaging
Transcript: ENSMUST00000125642
AA Change: L22P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145657
AA Change: L22P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154287
AA Change: L22P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890
AA Change: L22P
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.2%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,668,692 (GRCm39) |
W18R |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,620,222 (GRCm39) |
Y2417* |
probably null |
Het |
| Apold1 |
T |
A |
6: 134,961,148 (GRCm39) |
S201T |
probably benign |
Het |
| Arhgap31 |
G |
A |
16: 38,424,084 (GRCm39) |
P661S |
probably benign |
Het |
| Cacfd1 |
T |
C |
2: 26,908,396 (GRCm39) |
V110A |
possibly damaging |
Het |
| Capn2 |
A |
G |
1: 182,310,099 (GRCm39) |
|
probably null |
Het |
| Chadl |
T |
C |
15: 81,579,335 (GRCm39) |
E98G |
possibly damaging |
Het |
| Crxos |
T |
C |
7: 15,631,394 (GRCm39) |
Y31H |
probably benign |
Het |
| Cyp4f14 |
A |
C |
17: 33,130,627 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,689,839 (GRCm39) |
I95T |
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,299,961 (GRCm39) |
E341G |
probably benign |
Het |
| Dchs1 |
G |
T |
7: 105,411,824 (GRCm39) |
R1431S |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,400,345 (GRCm39) |
H1001Q |
probably damaging |
Het |
| Efemp1 |
T |
C |
11: 28,804,528 (GRCm39) |
Y19H |
probably benign |
Het |
| Eml1 |
T |
G |
12: 108,502,569 (GRCm39) |
F726V |
probably benign |
Het |
| Fdx1 |
A |
T |
9: 51,859,921 (GRCm39) |
D136E |
probably benign |
Het |
| Ganab |
A |
T |
19: 8,888,192 (GRCm39) |
D446V |
probably damaging |
Het |
| Gusb |
A |
G |
5: 130,018,953 (GRCm39) |
V561A |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,010,406 (GRCm39) |
D328V |
unknown |
Het |
| Hdgfl1 |
A |
G |
13: 26,954,047 (GRCm39) |
Y9H |
probably damaging |
Het |
| Hes3 |
T |
A |
4: 152,371,572 (GRCm39) |
S101C |
probably damaging |
Het |
| Igkv2-112 |
T |
C |
6: 68,197,579 (GRCm39) |
S84P |
probably benign |
Het |
| Ints9 |
C |
T |
14: 65,257,809 (GRCm39) |
P330S |
possibly damaging |
Het |
| Kdm7a |
A |
T |
6: 39,126,235 (GRCm39) |
N583K |
probably damaging |
Het |
| Klhl10 |
C |
T |
11: 100,338,227 (GRCm39) |
T322M |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,529,216 (GRCm39) |
V1545D |
possibly damaging |
Het |
| Laptm5 |
T |
C |
4: 130,653,511 (GRCm39) |
|
probably null |
Het |
| Ldlr |
A |
G |
9: 21,658,546 (GRCm39) |
T833A |
probably damaging |
Het |
| Llgl1 |
G |
T |
11: 60,593,648 (GRCm39) |
L40F |
possibly damaging |
Het |
| Lrrc14 |
T |
C |
15: 76,598,756 (GRCm39) |
L464S |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Lysmd3 |
T |
A |
13: 81,817,386 (GRCm39) |
L121H |
|
Het |
| Map2 |
T |
C |
1: 66,464,649 (GRCm39) |
S1680P |
probably damaging |
Het |
| Med12l |
T |
C |
3: 58,993,784 (GRCm39) |
V583A |
possibly damaging |
Het |
| Mfsd4b5 |
A |
G |
10: 39,846,246 (GRCm39) |
Y445H |
probably damaging |
Het |
| Morf4l1 |
G |
A |
9: 89,979,475 (GRCm39) |
P169S |
probably benign |
Het |
| Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
| Ola1 |
A |
G |
2: 72,929,694 (GRCm39) |
L303P |
probably damaging |
Het |
| Or1j19 |
T |
A |
2: 36,677,409 (GRCm39) |
Y291N |
|
Het |
| Or1o2 |
T |
C |
17: 37,542,727 (GRCm39) |
D178G |
possibly damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,705 (GRCm39) |
I194T |
probably benign |
Het |
| Or9i2 |
G |
T |
19: 13,816,225 (GRCm39) |
T104K |
probably damaging |
Het |
| Pdlim3 |
A |
T |
8: 46,353,562 (GRCm39) |
H99L |
possibly damaging |
Het |
| Plagl2 |
G |
T |
2: 153,073,461 (GRCm39) |
T480N |
probably benign |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,535,499 (GRCm39) |
R422Q |
probably benign |
Het |
| Rad18 |
T |
A |
6: 112,664,982 (GRCm39) |
R51* |
probably null |
Het |
| Rpap3 |
T |
A |
15: 97,589,185 (GRCm39) |
T250S |
probably benign |
Het |
| Serpinb11 |
T |
C |
1: 107,305,262 (GRCm39) |
Y213H |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,686,080 (GRCm39) |
F201L |
possibly damaging |
Het |
| Slc25a4 |
A |
G |
8: 46,663,896 (GRCm39) |
S22P |
probably damaging |
Het |
| Slfn1 |
T |
A |
11: 83,012,245 (GRCm39) |
N120K |
probably damaging |
Het |
| Smok3c |
T |
C |
5: 138,063,655 (GRCm39) |
S381P |
probably benign |
Het |
| Sry |
T |
A |
Y: 2,663,204 (GRCm39) |
Q152L |
unknown |
Het |
| Taar2 |
T |
A |
10: 23,817,248 (GRCm39) |
W263R |
probably damaging |
Het |
| Thnsl1 |
T |
A |
2: 21,216,924 (GRCm39) |
V226E |
probably benign |
Het |
| Tmeff2 |
T |
C |
1: 51,172,279 (GRCm39) |
|
probably null |
Het |
| Tox |
A |
G |
4: 6,842,408 (GRCm39) |
Y41H |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,194,957 (GRCm39) |
Y994N |
probably damaging |
Het |
| Trim9 |
C |
T |
12: 70,297,789 (GRCm39) |
A713T |
probably damaging |
Het |
| Tub |
T |
A |
7: 108,628,533 (GRCm39) |
M393K |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,703,583 (GRCm39) |
K1165R |
probably damaging |
Het |
| Usp6nl |
T |
A |
2: 6,435,327 (GRCm39) |
I362K |
probably damaging |
Het |
| Vmn1r217 |
T |
C |
13: 23,298,369 (GRCm39) |
I178V |
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,074 (GRCm39) |
T299S |
probably damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
| Xkr8 |
G |
A |
4: 132,458,246 (GRCm39) |
P144L |
probably damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,616,355 (GRCm39) |
I35T |
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 |
|
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 |
|
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'- TGCTTTCACCAACAGAGACAG -3'
(R):5'- GGCATGTGTTACTCCAAAGC -3'
Sequencing Primer
(F):5'- TTTCACCAACAGAGACAGACAGAG -3'
(R):5'- CCAAAGCATGGTATTCAAGGATG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation