Incidental Mutation 'IGL01355:Ajap1'
| ID |
75504 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ajap1
|
| Ensembl Gene |
ENSMUSG00000039546 |
| Gene Name |
adherens junction associated protein 1 |
| Synonyms |
LOC230959 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01355
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
153457678-153567268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 153470938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 290
(V290I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105646]
[ENSMUST00000149177]
|
| AlphaFold |
A2ALI5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105646
AA Change: V290I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101271
Gene: ENSMUSG00000039546
AA Change: V290I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
146 |
N/A |
INTRINSIC |
|
Pfam:AJAP1_PANP_C
|
181 |
389 |
1.6e-98 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149177
AA Change: R21H
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
A |
G |
17: 66,277,335 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
A |
T |
6: 86,729,187 (GRCm39) |
I140N |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,268,087 (GRCm39) |
|
probably benign |
Het |
| Cd36 |
C |
T |
5: 18,018,072 (GRCm39) |
V214I |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,020,637 (GRCm39) |
L336S |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
| Gpr146 |
A |
T |
5: 139,364,659 (GRCm39) |
|
probably benign |
Het |
| Irf1 |
T |
C |
11: 53,665,187 (GRCm39) |
V188A |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,686,754 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
T |
C |
13: 113,135,603 (GRCm39) |
F342S |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,533,074 (GRCm39) |
T141A |
probably benign |
Het |
| Mnd1 |
C |
A |
3: 84,023,784 (GRCm39) |
A101S |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,452,211 (GRCm39) |
S466P |
probably damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,438 (GRCm39) |
I296K |
probably benign |
Het |
| Or52z12 |
A |
G |
7: 103,233,580 (GRCm39) |
E117G |
probably damaging |
Het |
| Pik3c2g |
G |
T |
6: 139,798,583 (GRCm39) |
G371V |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,450,538 (GRCm39) |
V199A |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,470,685 (GRCm39) |
T54A |
possibly damaging |
Het |
| Tmem121b |
A |
G |
6: 120,469,427 (GRCm39) |
L430P |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,446,019 (GRCm39) |
D384G |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,588 (GRCm39) |
T871A |
possibly damaging |
Het |
| Vegfa |
T |
C |
17: 46,336,347 (GRCm39) |
M258V |
possibly damaging |
Het |
| Zbtb49 |
A |
G |
5: 38,367,960 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ajap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01607:Ajap1
|
APN |
4 |
153,516,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01638:Ajap1
|
APN |
4 |
153,516,693 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02248:Ajap1
|
APN |
4 |
153,516,568 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02888:Ajap1
|
APN |
4 |
153,516,718 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0924:Ajap1
|
UTSW |
4 |
153,470,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2905:Ajap1
|
UTSW |
4 |
153,517,284 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5607:Ajap1
|
UTSW |
4 |
153,516,661 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5875:Ajap1
|
UTSW |
4 |
153,516,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6060:Ajap1
|
UTSW |
4 |
153,516,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Ajap1
|
UTSW |
4 |
153,469,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Ajap1
|
UTSW |
4 |
153,517,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Ajap1
|
UTSW |
4 |
153,516,813 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8780:Ajap1
|
UTSW |
4 |
153,470,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Ajap1
|
UTSW |
4 |
153,516,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9373:Ajap1
|
UTSW |
4 |
153,516,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0028:Ajap1
|
UTSW |
4 |
153,516,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Ajap1
|
UTSW |
4 |
153,516,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Ajap1
|
UTSW |
4 |
153,516,892 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Posted On |
2013-10-07 |
Incidental Mutation