Incidental Mutation 'IGL01566:Jkampl'
| ID |
90992 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jkampl
|
| Ensembl Gene |
ENSMUSG00000056197 |
| Gene Name |
JNK1/MAPK8 associated membrane protein like |
| Synonyms |
4931417E11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL01566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
73445563-73446621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73445673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 292
(T292I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070163]
|
| AlphaFold |
Q9CR05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070163
AA Change: T292I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068770
Gene: ENSMUSG00000056197
AA Change: T292I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF766
|
3 |
294 |
3.1e-113 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205241
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
C |
9: 21,447,285 (GRCm39) |
V149A |
possibly damaging |
Het |
| Casc3 |
T |
C |
11: 98,714,227 (GRCm39) |
|
probably null |
Het |
| Dhdds |
T |
C |
4: 133,718,648 (GRCm39) |
I162V |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,469,840 (GRCm39) |
|
probably benign |
Het |
| E030025P04Rik |
T |
A |
11: 109,034,714 (GRCm39) |
D58V |
unknown |
Het |
| Gcn1 |
A |
G |
5: 115,749,117 (GRCm39) |
N1883S |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,634,661 (GRCm39) |
L235P |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,731,271 (GRCm39) |
N593S |
probably benign |
Het |
| Mme |
T |
C |
3: 63,269,350 (GRCm39) |
|
probably benign |
Het |
| Nr6a1 |
G |
T |
2: 38,617,901 (GRCm39) |
Q419K |
probably benign |
Het |
| Pcolce |
A |
G |
5: 137,603,422 (GRCm39) |
|
probably benign |
Het |
| Ppp2cb |
C |
A |
8: 34,101,791 (GRCm39) |
R110S |
probably benign |
Het |
| Slc35f1 |
A |
G |
10: 52,965,551 (GRCm39) |
Y322C |
probably damaging |
Het |
| Slc5a3 |
T |
C |
16: 91,874,465 (GRCm39) |
V174A |
probably damaging |
Het |
| St8sia4 |
G |
T |
1: 95,581,482 (GRCm39) |
R87S |
probably benign |
Het |
| Tfdp2 |
A |
G |
9: 96,177,083 (GRCm39) |
E5G |
probably damaging |
Het |
| Tmem161b |
T |
C |
13: 84,442,881 (GRCm39) |
I267T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,782,365 (GRCm39) |
L957P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,612,445 (GRCm39) |
|
probably benign |
Het |
| Ubqln1 |
A |
T |
13: 58,327,481 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
C |
5: 102,044,454 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Jkampl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01768:Jkampl
|
APN |
6 |
73,445,899 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02903:Jkampl
|
APN |
6 |
73,446,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0084:Jkampl
|
UTSW |
6 |
73,445,918 (GRCm39) |
nonsense |
probably null |
|
|
R0123:Jkampl
|
UTSW |
6 |
73,446,402 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0225:Jkampl
|
UTSW |
6 |
73,446,402 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1478:Jkampl
|
UTSW |
6 |
73,446,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Jkampl
|
UTSW |
6 |
73,445,869 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4616:Jkampl
|
UTSW |
6 |
73,446,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5451:Jkampl
|
UTSW |
6 |
73,445,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5875:Jkampl
|
UTSW |
6 |
73,446,028 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5911:Jkampl
|
UTSW |
6 |
73,445,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6784:Jkampl
|
UTSW |
6 |
73,445,918 (GRCm39) |
nonsense |
probably null |
|
|
R6982:Jkampl
|
UTSW |
6 |
73,446,527 (GRCm39) |
nonsense |
probably null |
|
|
R7990:Jkampl
|
UTSW |
6 |
73,446,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8365:Jkampl
|
UTSW |
6 |
73,446,329 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8381:Jkampl
|
UTSW |
6 |
73,445,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Jkampl
|
UTSW |
6 |
73,446,517 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9363:Jkampl
|
UTSW |
6 |
73,446,487 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
X0024:Jkampl
|
UTSW |
6 |
73,446,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-12-09 |
Incidental Mutation