Incidental Mutation 'IGL02030:Uchl4'
| ID |
184324 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uchl4
|
| Ensembl Gene |
ENSMUSG00000035337 |
| Gene Name |
ubiquitin carboxyl-terminal esterase L4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02030
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
64142483-64143644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64142911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 131
(S131P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005066]
[ENSMUST00000039011]
|
| AlphaFold |
P58321 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005066
|
| SMART Domains |
Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
51 |
N/A |
INTRINSIC |
|
S_TKc
|
68 |
361 |
4.44e-80 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039011
AA Change: S131P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: S131P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C12
|
6 |
217 |
2.2e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214497
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
C |
8: 44,021,894 (GRCm39) |
D532G |
probably benign |
Het |
| Adam29 |
C |
T |
8: 56,325,157 (GRCm39) |
M432I |
probably benign |
Het |
| Cbs |
A |
G |
17: 31,844,463 (GRCm39) |
|
probably null |
Het |
| Ccer1 |
A |
G |
10: 97,529,472 (GRCm39) |
Y45C |
unknown |
Het |
| Clu |
G |
A |
14: 66,213,240 (GRCm39) |
G209S |
probably benign |
Het |
| Ddx17 |
T |
C |
15: 79,414,577 (GRCm39) |
D530G |
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,761,311 (GRCm39) |
|
probably benign |
Het |
| Fry |
C |
T |
5: 150,395,083 (GRCm39) |
|
probably benign |
Het |
| Fut10 |
C |
T |
8: 31,726,006 (GRCm39) |
Q254* |
probably null |
Het |
| Gucy2e |
A |
G |
11: 69,114,642 (GRCm39) |
F1002S |
probably damaging |
Het |
| Hsd3b6 |
T |
C |
3: 98,713,489 (GRCm39) |
Y270C |
probably benign |
Het |
| Jup |
A |
G |
11: 100,267,817 (GRCm39) |
I502T |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,531 (GRCm39) |
|
probably null |
Het |
| Mei1 |
T |
C |
15: 81,999,944 (GRCm39) |
V1127A |
probably benign |
Het |
| Ncstn |
A |
T |
1: 171,900,024 (GRCm39) |
|
probably benign |
Het |
| Nin |
T |
C |
12: 70,092,042 (GRCm39) |
R756G |
probably damaging |
Het |
| Notch2 |
C |
A |
3: 98,006,737 (GRCm39) |
|
probably null |
Het |
| Oacyl |
T |
C |
18: 65,870,981 (GRCm39) |
V394A |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,677,410 (GRCm39) |
Y291C |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,839,799 (GRCm39) |
F220S |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,545 (GRCm39) |
I46T |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,514 (GRCm39) |
|
probably null |
Het |
| Rspo3 |
T |
G |
10: 29,376,044 (GRCm39) |
E173A |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,095 (GRCm39) |
V467E |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,862,423 (GRCm39) |
E209K |
possibly damaging |
Het |
| Usp54 |
T |
C |
14: 20,616,014 (GRCm39) |
I769V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,339,325 (GRCm39) |
M522T |
probably benign |
Het |
|
| Other mutations in Uchl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01468:Uchl4
|
APN |
9 |
64,142,998 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01710:Uchl4
|
APN |
9 |
64,142,788 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02739:Uchl4
|
APN |
9 |
64,142,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Uchl4
|
UTSW |
9 |
64,142,653 (GRCm39) |
splice site |
probably null |
|
|
R0026:Uchl4
|
UTSW |
9 |
64,142,653 (GRCm39) |
splice site |
probably null |
|
|
R1572:Uchl4
|
UTSW |
9 |
64,143,013 (GRCm39) |
missense |
probably benign |
|
|
R1801:Uchl4
|
UTSW |
9 |
64,142,757 (GRCm39) |
missense |
probably benign |
|
|
R2113:Uchl4
|
UTSW |
9 |
64,142,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4042:Uchl4
|
UTSW |
9 |
64,142,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4500:Uchl4
|
UTSW |
9 |
64,143,163 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4625:Uchl4
|
UTSW |
9 |
64,143,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Uchl4
|
UTSW |
9 |
64,143,022 (GRCm39) |
nonsense |
probably null |
|
|
R5364:Uchl4
|
UTSW |
9 |
64,142,821 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6581:Uchl4
|
UTSW |
9 |
64,143,075 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7134:Uchl4
|
UTSW |
9 |
64,142,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Uchl4
|
UTSW |
9 |
64,143,013 (GRCm39) |
missense |
probably benign |
|
|
R8268:Uchl4
|
UTSW |
9 |
64,142,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Uchl4
|
UTSW |
9 |
64,142,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Uchl4
|
UTSW |
9 |
64,142,986 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Posted On |
2014-05-07 |
Incidental Mutation