Incidental Mutation 'R5994:Ube4b'
| ID |
480990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube4b
|
| Ensembl Gene |
ENSMUSG00000028960 |
| Gene Name |
ubiquitination factor E4B |
| Synonyms |
UFD2a, D4Bwg0973e, 4930551I19Rik, UFD2, 4933406G05Rik, Ufd2p |
| MMRRC Submission |
044173-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
149412873-149511206 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149457389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 283
(Y283H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103212]
[ENSMUST00000172836]
[ENSMUST00000174343]
|
| AlphaFold |
Q9ES00 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103212
AA Change: Y283H
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099501
Gene: ENSMUSG00000028960
AA Change: Y283H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
|
Pfam:Ufd2P_core
|
462 |
1083 |
1.3e-199 |
PFAM |
|
Ubox
|
1102 |
1164 |
3.94e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172836
AA Change: Y283H
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134452
Gene: ENSMUSG00000028960
AA Change: Y283H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
|
Pfam:Ufd2P_core
|
462 |
983 |
7.4e-143 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174343
AA Change: Y283H
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134556
Gene: ENSMUSG00000028960
AA Change: Y283H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
278 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene die by midgestation and exhibit cardiac development defects such as hemorrhage and cardiomyocyte apoptosis. Heterozygous mice exhibit axonal dystrophy in the nucleus gracilis, degeneration of Purkinje cells and gait abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,647,862 (GRCm39) |
H1118L |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,840,592 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,928,995 (GRCm39) |
|
probably null |
Het |
| Adcy6 |
A |
T |
15: 98,491,545 (GRCm39) |
I1016N |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,562,140 (GRCm39) |
C312S |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,937,478 (GRCm39) |
V89M |
probably damaging |
Het |
| Arhgap21 |
C |
T |
2: 20,886,187 (GRCm39) |
G330D |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,715,935 (GRCm39) |
L195P |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,874,943 (GRCm39) |
I514T |
probably damaging |
Het |
| Ctdsp2 |
G |
A |
10: 126,831,689 (GRCm39) |
|
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,142 (GRCm39) |
I152V |
probably benign |
Het |
| Dglucy |
G |
A |
12: 100,808,959 (GRCm39) |
R219Q |
probably benign |
Het |
| Disp3 |
G |
T |
4: 148,338,741 (GRCm39) |
A810E |
possibly damaging |
Het |
| Dtx4 |
T |
C |
19: 12,478,517 (GRCm39) |
Y22C |
probably damaging |
Het |
| Edaradd |
A |
T |
13: 12,493,377 (GRCm39) |
I105N |
probably damaging |
Het |
| Eepd1 |
C |
T |
9: 25,514,749 (GRCm39) |
P519S |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,430,294 (GRCm39) |
S155C |
probably benign |
Het |
| Gm10134 |
A |
T |
2: 28,396,258 (GRCm39) |
E51V |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Golga7 |
T |
C |
8: 23,740,281 (GRCm39) |
E83G |
probably benign |
Het |
| Gpr12 |
T |
C |
5: 146,520,241 (GRCm39) |
H227R |
probably damaging |
Het |
| Hoxa2 |
T |
G |
6: 52,141,372 (GRCm39) |
S85R |
possibly damaging |
Het |
| Hrnr |
T |
C |
3: 93,239,607 (GRCm39) |
S3282P |
unknown |
Het |
| Ift74 |
C |
A |
4: 94,579,961 (GRCm39) |
T543K |
possibly damaging |
Het |
| Klf10 |
C |
A |
15: 38,296,285 (GRCm39) |
R420L |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,771,290 (GRCm39) |
I338F |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,131,965 (GRCm39) |
S152C |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,234 (GRCm39) |
H270L |
probably benign |
Het |
| Myrf |
A |
T |
19: 10,196,481 (GRCm39) |
L504Q |
probably null |
Het |
| Nckipsd |
A |
G |
9: 108,691,176 (GRCm39) |
Q366R |
probably benign |
Het |
| Npy5r |
A |
T |
8: 67,134,751 (GRCm39) |
V14D |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,340,031 (GRCm39) |
R830* |
probably null |
Het |
| Ogfrl1 |
A |
T |
1: 23,418,070 (GRCm39) |
Y103N |
probably damaging |
Het |
| Or10g7 |
A |
T |
9: 39,905,519 (GRCm39) |
R138* |
probably null |
Het |
| P2rx4 |
T |
A |
5: 122,863,142 (GRCm39) |
L232H |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,906,947 (GRCm39) |
T71S |
probably benign |
Het |
| Paip2b |
C |
A |
6: 83,785,867 (GRCm39) |
S121I |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,103,149 (GRCm39) |
T261I |
possibly damaging |
Het |
| Ppp6c |
G |
T |
2: 39,101,004 (GRCm39) |
T46K |
possibly damaging |
Het |
| Prkd2 |
C |
A |
7: 16,584,261 (GRCm39) |
H371Q |
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,501,725 (GRCm39) |
|
probably null |
Het |
| Psd3 |
C |
T |
8: 68,172,620 (GRCm39) |
A894T |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,448,073 (GRCm39) |
|
probably null |
Het |
| Pzp |
A |
T |
6: 128,468,560 (GRCm39) |
M989K |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,203,373 (GRCm39) |
S1159T |
probably benign |
Het |
| Rapgefl1 |
T |
C |
11: 98,740,986 (GRCm39) |
F575L |
probably benign |
Het |
| Rassf6 |
A |
G |
5: 90,765,627 (GRCm39) |
L28S |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,676,857 (GRCm39) |
K268N |
probably damaging |
Het |
| Rela |
C |
T |
19: 5,697,092 (GRCm39) |
T433M |
possibly damaging |
Het |
| Rnf103 |
T |
A |
6: 71,473,894 (GRCm39) |
S102R |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,624,243 (GRCm39) |
N516S |
probably damaging |
Het |
| Sdcbp2 |
T |
C |
2: 151,429,403 (GRCm39) |
I241T |
probably damaging |
Het |
| Septin7 |
T |
C |
9: 25,199,494 (GRCm39) |
I131T |
possibly damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,357,570 (GRCm39) |
F191L |
probably damaging |
Het |
| Siglec15 |
C |
A |
18: 78,090,590 (GRCm39) |
C236F |
probably damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,295,562 (GRCm39) |
T520A |
probably benign |
Het |
| Slc26a11 |
C |
A |
11: 119,270,738 (GRCm39) |
F553L |
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,672,404 (GRCm39) |
P1596S |
possibly damaging |
Het |
| Taar7b |
A |
G |
10: 23,876,246 (GRCm39) |
H137R |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,365,237 (GRCm39) |
C468* |
probably null |
Het |
| Timp4 |
C |
T |
6: 115,224,315 (GRCm39) |
G118D |
probably damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,065,003 (GRCm39) |
K48E |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 137,862,475 (GRCm39) |
I255N |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,133,189 (GRCm39) |
|
probably null |
Het |
| Tut7 |
T |
G |
13: 59,937,023 (GRCm39) |
Y806S |
probably damaging |
Het |
| Ucp1 |
G |
T |
8: 84,020,567 (GRCm39) |
V126L |
possibly damaging |
Het |
| Unc13b |
T |
A |
4: 43,172,596 (GRCm39) |
|
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,875,918 (GRCm39) |
S2768P |
probably damaging |
Het |
| Zfp101 |
T |
A |
17: 33,599,936 (GRCm39) |
M607L |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,805,464 (GRCm39) |
V2527M |
possibly damaging |
Het |
| Zfp503 |
T |
A |
14: 22,035,630 (GRCm39) |
T429S |
possibly damaging |
Het |
|
| Other mutations in Ube4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Ube4b
|
APN |
4 |
149,465,823 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL00820:Ube4b
|
APN |
4 |
149,437,378 (GRCm39) |
splice site |
probably benign |
|
|
IGL01093:Ube4b
|
APN |
4 |
149,414,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01154:Ube4b
|
APN |
4 |
149,449,927 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01612:Ube4b
|
APN |
4 |
149,468,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01800:Ube4b
|
APN |
4 |
149,415,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02149:Ube4b
|
APN |
4 |
149,483,141 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02472:Ube4b
|
APN |
4 |
149,471,536 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02839:Ube4b
|
APN |
4 |
149,452,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03027:Ube4b
|
APN |
4 |
149,465,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:Ube4b
|
UTSW |
4 |
149,439,914 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0164:Ube4b
|
UTSW |
4 |
149,444,781 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0164:Ube4b
|
UTSW |
4 |
149,444,781 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0206:Ube4b
|
UTSW |
4 |
149,483,094 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0591:Ube4b
|
UTSW |
4 |
149,442,034 (GRCm39) |
intron |
probably benign |
|
|
R1366:Ube4b
|
UTSW |
4 |
149,419,606 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1452:Ube4b
|
UTSW |
4 |
149,455,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Ube4b
|
UTSW |
4 |
149,436,035 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1668:Ube4b
|
UTSW |
4 |
149,445,751 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1874:Ube4b
|
UTSW |
4 |
149,432,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2002:Ube4b
|
UTSW |
4 |
149,468,254 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2050:Ube4b
|
UTSW |
4 |
149,429,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:Ube4b
|
UTSW |
4 |
149,457,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2281:Ube4b
|
UTSW |
4 |
149,429,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3547:Ube4b
|
UTSW |
4 |
149,419,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Ube4b
|
UTSW |
4 |
149,449,861 (GRCm39) |
splice site |
probably null |
|
|
R4378:Ube4b
|
UTSW |
4 |
149,468,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4563:Ube4b
|
UTSW |
4 |
149,443,622 (GRCm39) |
intron |
probably benign |
|
|
R4674:Ube4b
|
UTSW |
4 |
149,415,827 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4716:Ube4b
|
UTSW |
4 |
149,429,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Ube4b
|
UTSW |
4 |
149,445,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5125:Ube4b
|
UTSW |
4 |
149,427,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5178:Ube4b
|
UTSW |
4 |
149,427,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Ube4b
|
UTSW |
4 |
149,465,699 (GRCm39) |
missense |
probably null |
0.08 |
|
R5229:Ube4b
|
UTSW |
4 |
149,471,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5303:Ube4b
|
UTSW |
4 |
149,468,260 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5346:Ube4b
|
UTSW |
4 |
149,421,881 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5780:Ube4b
|
UTSW |
4 |
149,415,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5813:Ube4b
|
UTSW |
4 |
149,421,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5842:Ube4b
|
UTSW |
4 |
149,415,887 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6020:Ube4b
|
UTSW |
4 |
149,452,768 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6125:Ube4b
|
UTSW |
4 |
149,483,203 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6272:Ube4b
|
UTSW |
4 |
149,471,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:Ube4b
|
UTSW |
4 |
149,432,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6426:Ube4b
|
UTSW |
4 |
149,510,453 (GRCm39) |
unclassified |
probably benign |
|
|
R7203:Ube4b
|
UTSW |
4 |
149,483,067 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7341:Ube4b
|
UTSW |
4 |
149,427,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Ube4b
|
UTSW |
4 |
149,471,661 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7713:Ube4b
|
UTSW |
4 |
149,483,238 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8175:Ube4b
|
UTSW |
4 |
149,435,973 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9042:Ube4b
|
UTSW |
4 |
149,444,833 (GRCm39) |
missense |
probably benign |
|
|
R9173:Ube4b
|
UTSW |
4 |
149,415,933 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9462:Ube4b
|
UTSW |
4 |
149,444,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9577:Ube4b
|
UTSW |
4 |
149,468,231 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Z1088:Ube4b
|
UTSW |
4 |
149,419,582 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTACAAGGTGCTGTGAG -3'
(R):5'- GCTGCATGGGGAAATTGTGC -3'
Sequencing Primer
(F):5'- GAGTTCTCCAGGACTAGATTCCG -3'
(R):5'- CATGGGGAAATTGTGCTTCACC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation