Incidental Mutation 'IGL01607:Ajap1'
| ID |
92298 |
| 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 # |
IGL01607
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
153457678-153567268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 153516736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 202
(G202S)
|
| 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: G202S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101271
Gene: ENSMUSG00000039546
AA Change: G202S
| 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 |
probably benign
Transcript: ENSMUST00000149177
|
| 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 |
|---|
| Acsl6 |
A |
G |
11: 54,243,823 (GRCm39) |
K556E |
possibly damaging |
Het |
| Adgre4 |
A |
C |
17: 56,101,748 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
G |
T |
12: 101,446,985 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,200,778 (GRCm39) |
D393V |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,503,443 (GRCm39) |
T95A |
possibly damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,673,209 (GRCm39) |
T67A |
probably benign |
Het |
| Dnaja3 |
T |
C |
16: 4,511,259 (GRCm39) |
F205L |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,222,720 (GRCm39) |
C584Y |
probably damaging |
Het |
| Duox2 |
C |
A |
2: 122,122,800 (GRCm39) |
V545L |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,903,637 (GRCm39) |
L53P |
probably benign |
Het |
| Gm14184 |
C |
T |
11: 99,590,490 (GRCm39) |
C4Y |
unknown |
Het |
| Inpp4b |
C |
T |
8: 82,737,292 (GRCm39) |
A563V |
probably benign |
Het |
| Kcnc3 |
A |
G |
7: 44,240,728 (GRCm39) |
D140G |
probably damaging |
Het |
| Ly6a |
A |
T |
15: 74,867,262 (GRCm39) |
M85K |
probably benign |
Het |
| Map4k2 |
C |
T |
19: 6,395,623 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
C |
3: 137,810,459 (GRCm39) |
Y652C |
probably damaging |
Het |
| Neu1 |
A |
T |
17: 35,153,692 (GRCm39) |
N372I |
probably benign |
Het |
| Nuak2 |
G |
A |
1: 132,255,878 (GRCm39) |
V184I |
probably damaging |
Het |
| Phf11a |
T |
C |
14: 59,524,950 (GRCm39) |
I85V |
probably damaging |
Het |
| Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
| Ralb |
A |
G |
1: 119,411,279 (GRCm39) |
V20A |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,309,260 (GRCm39) |
V173D |
probably benign |
Het |
| Stk38l |
T |
A |
6: 146,673,152 (GRCm39) |
C304S |
probably damaging |
Het |
| Stk38l |
T |
C |
6: 146,673,725 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
G |
T |
7: 64,985,926 (GRCm39) |
D288E |
possibly damaging |
Het |
| Trpm3 |
A |
G |
19: 22,964,491 (GRCm39) |
I1319V |
probably benign |
Het |
| Zic2 |
T |
G |
14: 122,716,294 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ajap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01355:Ajap1
|
APN |
4 |
153,470,938 (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 |
2013-12-09 |
Incidental Mutation