Incidental Mutation 'R0863:Ube4a'
| ID |
82202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube4a
|
| Ensembl Gene |
ENSMUSG00000059890 |
| Gene Name |
ubiquitination factor E4A |
| Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
| MMRRC Submission |
039037-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44861114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 232
(V232A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000125642]
[ENSMUST00000138559]
[ENSMUST00000145657]
[ENSMUST00000154287]
[ENSMUST00000213193]
[ENSMUST00000214761]
[ENSMUST00000213890]
[ENSMUST00000213666]
|
| AlphaFold |
E9Q735 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117506
AA Change: V213A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: V213A
| 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: V232A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: V232A
| 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: V232A
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145657
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154287
AA Change: V232A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890
AA Change: V232A
| 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: ENSMUST00000214761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213666
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
94% (59/63) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
A |
G |
7: 44,327,232 (GRCm39) |
|
noncoding transcript |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,815,453 (GRCm39) |
T234S |
probably benign |
Het |
| Acap1 |
C |
A |
11: 69,777,882 (GRCm39) |
V119L |
probably damaging |
Het |
| Actr2 |
C |
T |
11: 20,030,760 (GRCm39) |
V163I |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,021,056 (GRCm39) |
Y27C |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,914,792 (GRCm39) |
K524M |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,415,596 (GRCm39) |
Y846C |
probably benign |
Het |
| Capn7 |
T |
A |
14: 31,091,714 (GRCm39) |
C704S |
possibly damaging |
Het |
| Cep350 |
T |
A |
1: 155,737,981 (GRCm39) |
I2621L |
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,848,748 (GRCm39) |
|
probably null |
Het |
| Erc2 |
A |
C |
14: 27,747,105 (GRCm39) |
N345T |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,482,352 (GRCm39) |
R73G |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,030,634 (GRCm39) |
W552R |
probably damaging |
Het |
| Fsd2 |
A |
G |
7: 81,191,913 (GRCm39) |
V488A |
possibly damaging |
Het |
| Gfm1 |
T |
C |
3: 67,381,928 (GRCm39) |
S705P |
probably damaging |
Het |
| Gm9493 |
A |
T |
19: 23,597,173 (GRCm39) |
Q23L |
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,656,511 (GRCm39) |
D282G |
probably benign |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,328 (GRCm39) |
I129T |
probably damaging |
Het |
| H2-M10.3 |
T |
A |
17: 36,677,582 (GRCm39) |
Y232F |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Lonp1 |
T |
C |
17: 56,925,331 (GRCm39) |
K487R |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,559,381 (GRCm39) |
Y290C |
probably damaging |
Het |
| Ms4a10 |
C |
T |
19: 10,945,957 (GRCm39) |
G58D |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,421,454 (GRCm39) |
S4315G |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,072,173 (GRCm39) |
T557S |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,456,676 (GRCm39) |
D946G |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,886,241 (GRCm39) |
|
probably benign |
Het |
| Oga |
C |
T |
19: 45,771,425 (GRCm39) |
A49T |
probably benign |
Het |
| Or10ab5 |
A |
G |
7: 108,244,865 (GRCm39) |
I306T |
probably benign |
Het |
| Or5p50 |
T |
C |
7: 107,422,581 (GRCm39) |
S32G |
probably benign |
Het |
| Or7e173 |
A |
T |
9: 19,938,509 (GRCm39) |
S242T |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,242,061 (GRCm39) |
F1219I |
probably damaging |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Phf1 |
T |
C |
17: 27,156,114 (GRCm39) |
|
probably benign |
Het |
| Plec |
G |
A |
15: 76,058,280 (GRCm39) |
Q3751* |
probably null |
Het |
| Plscr1l1 |
A |
T |
9: 92,233,140 (GRCm39) |
I88L |
possibly damaging |
Het |
| Ppp1r12c |
G |
T |
7: 4,489,365 (GRCm39) |
Q240K |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,809,466 (GRCm39) |
Y436* |
probably null |
Het |
| Ralgapa1 |
C |
A |
12: 55,829,562 (GRCm39) |
|
probably benign |
Het |
| Scel |
T |
A |
14: 103,823,916 (GRCm39) |
S381R |
possibly damaging |
Het |
| Sema4a |
C |
T |
3: 88,355,456 (GRCm39) |
|
probably benign |
Het |
| Sltm |
A |
G |
9: 70,469,190 (GRCm39) |
T150A |
probably benign |
Het |
| Spag1 |
G |
T |
15: 36,192,193 (GRCm39) |
K217N |
probably damaging |
Het |
| Ssh1 |
C |
T |
5: 114,104,792 (GRCm39) |
R9H |
probably damaging |
Het |
| St3gal4 |
C |
A |
9: 34,964,744 (GRCm39) |
V155F |
probably damaging |
Het |
| Stxbp5 |
C |
T |
10: 9,684,784 (GRCm39) |
E539K |
possibly damaging |
Het |
| Tbc1d7 |
G |
T |
13: 43,308,161 (GRCm39) |
|
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,111,208 (GRCm39) |
L220* |
probably null |
Het |
| Tinf2 |
G |
A |
14: 55,917,566 (GRCm39) |
P308S |
probably benign |
Het |
| Tnf |
T |
C |
17: 35,420,120 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,073,117 (GRCm39) |
I190V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,537,391 (GRCm39) |
T34846A |
probably benign |
Het |
| Uri1 |
A |
T |
7: 37,669,100 (GRCm39) |
D122E |
probably damaging |
Het |
| Vmn2r94 |
T |
G |
17: 18,477,973 (GRCm39) |
Q146P |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,456,901 (GRCm39) |
E1278D |
unknown |
Het |
| Zfhx4 |
T |
A |
3: 5,310,375 (GRCm39) |
S919R |
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 |
|
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 |
|
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'- AGTGACTCTGAGACCCTCTAACGC -3'
(R):5'- AGTTTAGCATGTGAGCCTGAAAGCC -3'
Sequencing Primer
(F):5'- CCCGCCATTAGAGGAGTTTTAAATTG -3'
(R):5'- ggcacacacattttatcccag -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation