Incidental Mutation 'R6886:Ube4a'
ID |
536961 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube4a
|
Ensembl Gene |
ENSMUSG00000059890 |
Gene Name |
ubiquitination factor E4A |
Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
MMRRC Submission |
044980-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6886 (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 T
at 44860141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 307
(I307N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117506]
[ENSMUST00000117549]
[ENSMUST00000125642]
[ENSMUST00000138559]
[ENSMUST00000145657]
[ENSMUST00000154287]
[ENSMUST00000213193]
[ENSMUST00000213666]
[ENSMUST00000213890]
[ENSMUST00000214761]
|
AlphaFold |
E9Q735 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117506
AA Change: I288N
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113346 Gene: ENSMUSG00000059890 AA Change: I288N
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: I307N
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000112632 Gene: ENSMUSG00000059890 AA Change: I307N
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: I307N
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145657
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154287
AA Change: I307N
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123668 Gene: ENSMUSG00000059890 AA Change: I307N
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: ENSMUST00000213666
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213890
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214761
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp7b |
A |
T |
8: 22,518,706 (GRCm39) |
M44K |
probably benign |
Het |
Bad |
T |
C |
19: 6,928,702 (GRCm39) |
|
probably benign |
Het |
Bbs12 |
A |
G |
3: 37,373,390 (GRCm39) |
D61G |
probably damaging |
Het |
Bcr |
C |
T |
10: 74,989,769 (GRCm39) |
R722C |
probably damaging |
Het |
Carf |
C |
A |
1: 60,175,413 (GRCm39) |
|
probably null |
Het |
Ccdc181 |
A |
G |
1: 164,107,665 (GRCm39) |
E116G |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,915,855 (GRCm39) |
V706A |
probably benign |
Het |
Col9a1 |
T |
A |
1: 24,224,426 (GRCm39) |
S203T |
unknown |
Het |
Ctsl |
T |
C |
13: 64,512,961 (GRCm39) |
|
probably null |
Het |
Exosc7 |
A |
T |
9: 122,965,023 (GRCm39) |
E277D |
probably benign |
Het |
Fam20b |
A |
T |
1: 156,518,081 (GRCm39) |
W238R |
probably damaging |
Het |
Fanci |
A |
T |
7: 79,070,090 (GRCm39) |
H430L |
possibly damaging |
Het |
Fstl4 |
A |
G |
11: 53,077,277 (GRCm39) |
D678G |
probably damaging |
Het |
Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gm11569 |
T |
A |
11: 99,689,247 (GRCm39) |
|
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,901,198 (GRCm39) |
R306W |
probably damaging |
Het |
Il6 |
C |
T |
5: 30,223,201 (GRCm39) |
|
probably benign |
Het |
Khdc1c |
T |
C |
1: 21,439,749 (GRCm39) |
L100P |
possibly damaging |
Het |
Kif18a |
G |
A |
2: 109,127,008 (GRCm39) |
R314H |
probably damaging |
Het |
Kif26b |
A |
C |
1: 178,701,703 (GRCm39) |
K694T |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,493,485 (GRCm39) |
T484A |
probably benign |
Het |
Lonrf1 |
T |
C |
8: 36,696,191 (GRCm39) |
|
probably null |
Het |
Man1a2 |
C |
T |
3: 100,563,387 (GRCm39) |
G169D |
probably benign |
Het |
Med6 |
G |
T |
12: 81,638,159 (GRCm39) |
D17E |
probably damaging |
Het |
Neb |
T |
C |
2: 52,110,236 (GRCm39) |
K204R |
probably damaging |
Het |
Nhlrc1 |
T |
A |
13: 47,167,252 (GRCm39) |
N335I |
possibly damaging |
Het |
Nlrp12 |
T |
C |
7: 3,289,313 (GRCm39) |
M400V |
probably benign |
Het |
Or7e173 |
G |
T |
9: 19,938,428 (GRCm39) |
H269N |
probably benign |
Het |
Or8k22 |
A |
T |
2: 86,163,408 (GRCm39) |
C97* |
probably null |
Het |
Pkhd1 |
C |
T |
1: 20,417,504 (GRCm39) |
S2549N |
probably benign |
Het |
Pramel26 |
A |
G |
4: 143,539,332 (GRCm39) |
F54L |
probably benign |
Het |
Rab4b |
A |
C |
7: 26,872,381 (GRCm39) |
L145R |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,577,011 (GRCm39) |
I526V |
probably benign |
Het |
Rel |
T |
C |
11: 23,694,304 (GRCm39) |
H309R |
probably benign |
Het |
Rnf2 |
G |
T |
1: 151,349,017 (GRCm39) |
N34K |
possibly damaging |
Het |
Serpina3m |
G |
T |
12: 104,355,386 (GRCm39) |
V18F |
possibly damaging |
Het |
Serpinb9c |
T |
C |
13: 33,334,310 (GRCm39) |
K244R |
probably benign |
Het |
Setbp1 |
T |
A |
18: 78,900,715 (GRCm39) |
Y984F |
probably damaging |
Het |
Slc12a5 |
T |
A |
2: 164,824,825 (GRCm39) |
M410K |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,570,127 (GRCm39) |
A710V |
probably damaging |
Het |
Snx19 |
C |
A |
9: 30,340,231 (GRCm39) |
D456E |
probably damaging |
Het |
Ssrp1 |
T |
A |
2: 84,870,280 (GRCm39) |
D101E |
probably benign |
Het |
Tax1bp1 |
A |
T |
6: 52,710,208 (GRCm39) |
E162D |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,446,599 (GRCm39) |
M823K |
possibly damaging |
Het |
Tesk1 |
A |
G |
4: 43,443,592 (GRCm39) |
D53G |
possibly damaging |
Het |
Tnrc6a |
T |
A |
7: 122,786,668 (GRCm39) |
S1577T |
probably benign |
Het |
Tpr |
A |
G |
1: 150,299,716 (GRCm39) |
I1270V |
probably benign |
Het |
Trp53bp2 |
T |
C |
1: 182,256,608 (GRCm39) |
|
probably null |
Het |
Unc13b |
A |
G |
4: 43,170,156 (GRCm39) |
|
probably benign |
Het |
Vmn2r3 |
T |
C |
3: 64,166,927 (GRCm39) |
K735E |
probably damaging |
Het |
Vmn2r54 |
A |
G |
7: 12,366,080 (GRCm39) |
F285L |
probably benign |
Het |
Vmn2r81 |
T |
G |
10: 79,103,988 (GRCm39) |
S204A |
possibly damaging |
Het |
Washc1 |
A |
G |
17: 66,426,061 (GRCm39) |
D453G |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,544,025 (GRCm39) |
I500L |
probably benign |
Het |
Zfp516 |
A |
G |
18: 82,975,125 (GRCm39) |
D441G |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,785,777 (GRCm39) |
T257A |
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 |
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 |
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'- AATCCAGGCTGGCCTCAAAC -3'
(R):5'- AAAATCTGTCACAGCCTCCTTC -3'
Sequencing Primer
(F):5'- TCCCTGTGTAGCTGAGGATAACAC -3'
(R):5'- AAATCTGTCACAGCCTCCTTCTTTTC -3'
|
Posted On |
2018-10-18 |