Incidental Mutation 'R2905:Ajap1'
| ID |
261614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ajap1
|
| Ensembl Gene |
ENSMUSG00000039546 |
| Gene Name |
adherens junction associated protein 1 |
| Synonyms |
LOC230959 |
| MMRRC Submission |
040492-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2905 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
153457678-153567268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 153517284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 19
(R19L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105646]
[ENSMUST00000149177]
|
| AlphaFold |
A2ALI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105646
AA Change: R19L
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101271
Gene: ENSMUSG00000039546
AA Change: R19L
| 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
|
| Meta Mutation Damage Score |
0.0798 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
A |
C |
17: 72,292,489 (GRCm39) |
S496R |
probably benign |
Het |
| Arhgap15 |
T |
C |
2: 43,953,798 (GRCm39) |
F175L |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
| Cuedc2 |
C |
T |
19: 46,321,088 (GRCm39) |
V15I |
probably benign |
Het |
| Dennd3 |
T |
A |
15: 73,429,495 (GRCm39) |
L4Q |
probably damaging |
Het |
| Dusp8 |
T |
A |
7: 141,637,126 (GRCm39) |
K234* |
probably null |
Het |
| Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
| F7 |
C |
T |
8: 13,084,775 (GRCm39) |
T267I |
probably benign |
Het |
| Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,624,786 (GRCm39) |
S1040P |
probably damaging |
Het |
| Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
| Jtb |
C |
G |
3: 90,139,799 (GRCm39) |
P62R |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Ly6m |
T |
A |
15: 74,751,716 (GRCm39) |
Y106F |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,164,898 (GRCm39) |
V760A |
probably benign |
Het |
| Nudt4 |
T |
G |
10: 95,399,571 (GRCm39) |
K17Q |
probably benign |
Het |
| Or6c217 |
T |
C |
10: 129,738,269 (GRCm39) |
I103M |
possibly damaging |
Het |
| Pde4a |
A |
T |
9: 21,112,645 (GRCm39) |
T274S |
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,483,839 (GRCm39) |
V220I |
probably benign |
Het |
| Relch |
T |
C |
1: 105,619,719 (GRCm39) |
V316A |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,988,516 (GRCm39) |
S752P |
probably damaging |
Het |
| Ror2 |
A |
G |
13: 53,286,031 (GRCm39) |
I73T |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,965,335 (GRCm39) |
F160Y |
possibly damaging |
Het |
| Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,915,425 (GRCm39) |
L295P |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,802 (GRCm39) |
M816T |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,732,064 (GRCm39) |
N970S |
probably benign |
Het |
| Ttll8 |
A |
T |
15: 88,798,680 (GRCm39) |
M685K |
probably benign |
Het |
| Ushbp1 |
G |
A |
8: 71,840,179 (GRCm39) |
R491* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGCATCTGTATGGGTCC -3'
(R):5'- TTCTGGAGTCCTTTGCAGGC -3'
Sequencing Primer
(F):5'- TATGGGTCCGTGGGCAC -3'
(R):5'- CTTTGCAGGCTCAGATGAATTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation