Incidental Mutation 'R7853:Ube4a'
ID |
607075 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube4a
|
Ensembl Gene |
ENSMUSG00000059890 |
Gene Name |
ubiquitination factor E4A |
Synonyms |
UFD2b, 9930123J21Rik, 4732444G18Rik |
MMRRC Submission |
045906-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7853 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
44834425-44876898 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44864308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 76
(Q76L)
|
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: Q76L
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113346 Gene: ENSMUSG00000059890 AA Change: Q76L
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 |
possibly damaging
Transcript: ENSMUST00000117549
AA Change: Q95L
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112632 Gene: ENSMUSG00000059890 AA Change: Q95L
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: Q76L
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138559
AA Change: Q95L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145657
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154287
AA Change: Q95L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123668 Gene: ENSMUSG00000059890 AA Change: Q95L
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 |
possibly damaging
Transcript: ENSMUST00000213193
AA Change: Q95L
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213666
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213890
AA Change: Q95L
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214761
AA Change: Q95L
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
G |
2: 151,315,600 (GRCm39) |
I26T |
probably damaging |
Het |
Aadacl4 |
G |
T |
4: 144,344,592 (GRCm39) |
A123S |
probably benign |
Het |
Adamts20 |
A |
C |
15: 94,243,871 (GRCm39) |
C619G |
probably damaging |
Het |
Ahcyl1 |
C |
A |
3: 107,575,604 (GRCm39) |
V394L |
probably benign |
Het |
Ankrd17 |
A |
C |
5: 90,386,825 (GRCm39) |
L2378V |
possibly damaging |
Het |
B3gnt3 |
T |
C |
8: 72,145,357 (GRCm39) |
Y337C |
probably damaging |
Het |
Bcl10 |
A |
G |
3: 145,630,266 (GRCm39) |
K18R |
possibly damaging |
Het |
Calcr |
G |
A |
6: 3,707,499 (GRCm39) |
A267V |
probably benign |
Het |
Ces1d |
C |
T |
8: 93,901,695 (GRCm39) |
G425S |
probably benign |
Het |
Col1a1 |
G |
T |
11: 94,838,505 (GRCm39) |
R899L |
unknown |
Het |
Commd1 |
C |
T |
11: 22,906,532 (GRCm39) |
R168H |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,213,640 (GRCm39) |
S791P |
possibly damaging |
Het |
Ctsj |
T |
A |
13: 61,151,884 (GRCm39) |
I58F |
probably damaging |
Het |
Cyp2j5 |
T |
A |
4: 96,529,656 (GRCm39) |
K238N |
probably benign |
Het |
Dlgap4 |
A |
G |
2: 156,547,802 (GRCm39) |
D423G |
probably benign |
Het |
Eef1ece2 |
T |
A |
16: 20,463,010 (GRCm39) |
|
probably null |
Het |
Egln1 |
T |
C |
8: 125,675,256 (GRCm39) |
N180D |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,327,225 (GRCm39) |
F74S |
probably damaging |
Het |
Ext1 |
G |
A |
15: 52,970,881 (GRCm39) |
A350V |
probably damaging |
Het |
Fam186b |
T |
A |
15: 99,178,628 (GRCm39) |
I233F |
probably damaging |
Het |
Fam193a |
T |
G |
5: 34,597,473 (GRCm39) |
N91K |
probably benign |
Het |
Far1 |
T |
A |
7: 113,153,355 (GRCm39) |
N329K |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,637,134 (GRCm39) |
S1111P |
probably damaging |
Het |
Fhl2 |
A |
G |
1: 43,180,984 (GRCm39) |
S69P |
probably damaging |
Het |
Flg2 |
C |
A |
3: 93,128,054 (GRCm39) |
P2322Q |
unknown |
Het |
Flvcr1 |
A |
G |
1: 190,757,843 (GRCm39) |
Y108H |
probably damaging |
Het |
Fos |
T |
A |
12: 85,522,792 (GRCm39) |
S235T |
probably benign |
Het |
Foxf1 |
T |
A |
8: 121,811,438 (GRCm39) |
S101T |
probably damaging |
Het |
Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
Ggps1 |
T |
C |
13: 14,229,034 (GRCm39) |
I50V |
probably benign |
Het |
Gkn2 |
A |
G |
6: 87,355,255 (GRCm39) |
T155A |
probably benign |
Het |
Gna12 |
C |
T |
5: 140,746,449 (GRCm39) |
C332Y |
probably damaging |
Het |
Hc |
T |
A |
2: 34,900,045 (GRCm39) |
Y1096F |
probably damaging |
Het |
Hoxa3 |
G |
A |
6: 52,147,267 (GRCm39) |
|
probably benign |
Het |
Hsd17b8 |
T |
G |
17: 34,246,411 (GRCm39) |
D117A |
probably benign |
Het |
Ifi206 |
A |
T |
1: 173,299,100 (GRCm39) |
Y835* |
probably null |
Het |
Ighv13-2 |
T |
G |
12: 114,321,544 (GRCm39) |
E65A |
probably damaging |
Het |
Kif5a |
A |
T |
10: 127,071,537 (GRCm39) |
Y770* |
probably null |
Het |
Lfng |
A |
G |
5: 140,593,384 (GRCm39) |
S72G |
probably benign |
Het |
Lipo2 |
C |
T |
19: 33,737,344 (GRCm39) |
|
probably benign |
Het |
Lnpep |
C |
T |
17: 17,783,109 (GRCm39) |
S564N |
probably benign |
Het |
Mfhas1 |
T |
A |
8: 36,057,025 (GRCm39) |
L500* |
probably null |
Het |
Mllt6 |
G |
A |
11: 97,561,142 (GRCm39) |
V277I |
probably benign |
Het |
Mroh5 |
C |
T |
15: 73,663,189 (GRCm39) |
D192N |
probably benign |
Het |
Myo1f |
T |
A |
17: 33,795,672 (GRCm39) |
V106D |
probably damaging |
Het |
Mypn |
T |
A |
10: 62,981,652 (GRCm39) |
I643F |
probably benign |
Het |
Nup188 |
A |
G |
2: 30,213,575 (GRCm39) |
N669D |
possibly damaging |
Het |
Or14j5 |
C |
G |
17: 38,161,714 (GRCm39) |
T77R |
probably damaging |
Het |
Or2r11 |
A |
T |
6: 42,437,573 (GRCm39) |
C127S |
probably damaging |
Het |
Or5g26 |
T |
C |
2: 85,494,689 (GRCm39) |
T30A |
probably benign |
Het |
Or8s8 |
T |
C |
15: 98,354,866 (GRCm39) |
V225A |
probably benign |
Het |
Osbpl10 |
A |
G |
9: 115,036,726 (GRCm39) |
T241A |
probably damaging |
Het |
Peg3 |
C |
T |
7: 6,711,839 (GRCm39) |
E1128K |
possibly damaging |
Het |
Plch1 |
C |
A |
3: 63,681,068 (GRCm39) |
M186I |
probably benign |
Het |
Pon3 |
A |
C |
6: 5,236,911 (GRCm39) |
L152R |
probably damaging |
Het |
Prr36 |
G |
A |
8: 4,263,905 (GRCm39) |
P587L |
unknown |
Het |
Psma2 |
T |
A |
13: 14,799,832 (GRCm39) |
I192N |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,389,923 (GRCm39) |
F30L |
probably damaging |
Het |
Rpap3 |
G |
A |
15: 97,576,299 (GRCm39) |
A622V |
possibly damaging |
Het |
Scgb2b11 |
T |
A |
7: 31,908,807 (GRCm39) |
N98Y |
probably damaging |
Het |
Siglec1 |
A |
G |
2: 130,923,212 (GRCm39) |
L511P |
probably damaging |
Het |
Sirpb1c |
C |
T |
3: 15,887,156 (GRCm39) |
V228M |
probably damaging |
Het |
Smpd4 |
T |
A |
16: 17,460,605 (GRCm39) |
Y804N |
probably damaging |
Het |
Sult6b2 |
T |
C |
6: 142,747,524 (GRCm39) |
D75G |
not run |
Het |
Sycp3 |
A |
C |
10: 88,302,368 (GRCm39) |
K119N |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,078,278 (GRCm39) |
L4703P |
probably damaging |
Het |
Tex12 |
C |
G |
9: 50,470,523 (GRCm39) |
L20F |
possibly damaging |
Het |
Them5 |
T |
A |
3: 94,250,603 (GRCm39) |
Y55* |
probably null |
Het |
Tmem43 |
A |
T |
6: 91,458,968 (GRCm39) |
D213V |
probably benign |
Het |
Tnfrsf10b |
A |
C |
14: 70,005,239 (GRCm39) |
Q44P |
unknown |
Het |
Trbv2 |
A |
T |
6: 41,024,836 (GRCm39) |
Q84L |
probably benign |
Het |
Trim2 |
C |
T |
3: 84,212,537 (GRCm39) |
|
probably benign |
Het |
Trim36 |
A |
G |
18: 46,305,558 (GRCm39) |
V475A |
probably benign |
Het |
Ttbk1 |
C |
A |
17: 46,758,269 (GRCm39) |
E788D |
probably benign |
Het |
Ttn |
T |
C |
2: 76,543,626 (GRCm39) |
D33120G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,576,256 (GRCm39) |
N24879I |
probably damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,168,980 (GRCm39) |
I717F |
probably damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,485,987 (GRCm39) |
K434E |
possibly damaging |
Het |
Vta1 |
T |
C |
10: 14,531,461 (GRCm39) |
T305A |
probably damaging |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
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 |
|
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'- ACAGGAGTGGGTTTAACCATTAG -3'
(R):5'- ACTTGCCTGGCTTGAGTTGC -3'
Sequencing Primer
(F):5'- CTTATGACCTCTGGAAGAGCAGTC -3'
(R):5'- CCTGGCTTGAGTTGCTCACTAATG -3'
|
Posted On |
2019-12-20 |