Incidental Mutation 'IGL00595:Jaml'
| ID |
4897 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jaml
|
| Ensembl Gene |
ENSMUSG00000048534 |
| Gene Name |
junction adhesion molecule like |
| Synonyms |
Amica1, LOC270152 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL00595
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44990481-45019832 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 45012287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050020]
[ENSMUST00000215880]
[ENSMUST00000216426]
|
| AlphaFold |
Q80UL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050020
|
| SMART Domains |
Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
30 |
139 |
5.7e-8 |
SMART |
|
IG
|
143 |
254 |
9.26e-8 |
SMART |
|
low complexity region
|
293 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215266
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215880
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217074
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
G |
A |
10: 28,849,954 (GRCm39) |
R161* |
probably null |
Het |
| Adam20 |
T |
A |
8: 41,249,084 (GRCm39) |
F398Y |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,192,250 (GRCm39) |
I374F |
probably damaging |
Het |
| Apol10a |
A |
T |
15: 77,369,135 (GRCm39) |
N45Y |
probably null |
Het |
| Asnsd1 |
A |
G |
1: 53,386,647 (GRCm39) |
S327P |
probably damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,893,252 (GRCm39) |
K168N |
probably damaging |
Het |
| Chmp1b2 |
A |
G |
X: 106,831,450 (GRCm39) |
S189P |
probably damaging |
Het |
| Dpysl4 |
G |
T |
7: 138,676,092 (GRCm39) |
V274F |
probably damaging |
Het |
| Fxr2 |
T |
G |
11: 69,540,018 (GRCm39) |
S292A |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,969,322 (GRCm39) |
D132V |
unknown |
Het |
| Gpr161 |
A |
G |
1: 165,146,372 (GRCm39) |
H436R |
probably benign |
Het |
| Kcnc2 |
A |
T |
10: 112,297,893 (GRCm39) |
S606C |
probably damaging |
Het |
| Kcnc2 |
G |
T |
10: 112,297,892 (GRCm39) |
E605D |
probably benign |
Het |
| Kcnrg |
T |
C |
14: 61,845,359 (GRCm39) |
I133T |
probably damaging |
Het |
| Kdm7a |
A |
G |
6: 39,121,444 (GRCm39) |
I837T |
probably benign |
Het |
| Lactb2 |
A |
G |
1: 13,700,350 (GRCm39) |
L227S |
probably benign |
Het |
| Lats1 |
T |
G |
10: 7,578,069 (GRCm39) |
S398A |
probably benign |
Het |
| Llgl2 |
T |
A |
11: 115,725,710 (GRCm39) |
D19E |
probably benign |
Het |
| Nup107 |
A |
T |
10: 117,609,257 (GRCm39) |
C365* |
probably null |
Het |
| Nup107 |
T |
C |
10: 117,609,273 (GRCm39) |
|
probably null |
Het |
| Plekhf2 |
T |
C |
4: 10,991,022 (GRCm39) |
K107E |
probably damaging |
Het |
| Rnf139 |
A |
T |
15: 58,770,391 (GRCm39) |
I139F |
possibly damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,836,006 (GRCm39) |
N348S |
probably benign |
Het |
| Rttn |
A |
T |
18: 88,992,464 (GRCm39) |
Q136H |
probably benign |
Het |
| Syne2 |
C |
T |
12: 75,972,420 (GRCm39) |
T1052I |
possibly damaging |
Het |
| Tom1l1 |
A |
T |
11: 90,565,566 (GRCm39) |
L101Q |
probably damaging |
Het |
| Tubal3 |
A |
G |
13: 3,983,015 (GRCm39) |
N265S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,126,079 (GRCm39) |
N131S |
probably benign |
Het |
| Zfp944 |
T |
C |
17: 22,558,186 (GRCm39) |
S354G |
probably benign |
Het |
| Zfp961 |
G |
A |
8: 72,722,272 (GRCm39) |
A262T |
probably damaging |
Het |
|
| Other mutations in Jaml |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Jaml
|
APN |
9 |
45,005,105 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01139:Jaml
|
APN |
9 |
45,012,317 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02669:Jaml
|
APN |
9 |
45,015,489 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03405:Jaml
|
APN |
9 |
45,005,107 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0207:Jaml
|
UTSW |
9 |
45,005,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1962:Jaml
|
UTSW |
9 |
45,015,495 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2119:Jaml
|
UTSW |
9 |
45,012,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Jaml
|
UTSW |
9 |
45,012,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Jaml
|
UTSW |
9 |
45,012,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2358:Jaml
|
UTSW |
9 |
45,012,361 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3917:Jaml
|
UTSW |
9 |
45,012,449 (GRCm39) |
unclassified |
probably benign |
|
|
R4801:Jaml
|
UTSW |
9 |
45,012,362 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4802:Jaml
|
UTSW |
9 |
45,012,362 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5224:Jaml
|
UTSW |
9 |
45,015,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Jaml
|
UTSW |
9 |
45,000,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5760:Jaml
|
UTSW |
9 |
45,009,052 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6033:Jaml
|
UTSW |
9 |
45,000,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Jaml
|
UTSW |
9 |
45,000,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6174:Jaml
|
UTSW |
9 |
45,000,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Jaml
|
UTSW |
9 |
45,009,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Jaml
|
UTSW |
9 |
45,018,677 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6797:Jaml
|
UTSW |
9 |
45,000,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8184:Jaml
|
UTSW |
9 |
45,000,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9642:Jaml
|
UTSW |
9 |
45,000,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation