Incidental Mutation 'R1243:Ajm1'
ID |
152054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ajm1
|
Ensembl Gene |
ENSMUSG00000029419 |
Gene Name |
apical junction component 1 |
Synonyms |
Gm996, LOC381353 |
MMRRC Submission |
039310-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R1243 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
25465428-25471760 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 25468570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 447
(R447Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039156]
[ENSMUST00000058137]
[ENSMUST00000114217]
[ENSMUST00000187017]
[ENSMUST00000188161]
[ENSMUST00000191602]
|
AlphaFold |
A2AJA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039156
|
SMART Domains |
Protein: ENSMUSP00000037417 Gene: ENSMUSG00000036504
Domain | Start | End | E-Value | Type |
Pfam:Ocnus
|
5 |
116 |
1e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058137
|
SMART Domains |
Protein: ENSMUSP00000058746 Gene: ENSMUSG00000015087
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
45 |
108 |
1.5e-7 |
PFAM |
Pfam:Roc
|
45 |
112 |
2.2e-8 |
PFAM |
low complexity region
|
232 |
245 |
N/A |
INTRINSIC |
low complexity region
|
291 |
325 |
N/A |
INTRINSIC |
low complexity region
|
343 |
364 |
N/A |
INTRINSIC |
low complexity region
|
378 |
397 |
N/A |
INTRINSIC |
low complexity region
|
480 |
492 |
N/A |
INTRINSIC |
coiled coil region
|
653 |
669 |
N/A |
INTRINSIC |
low complexity region
|
708 |
720 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114217
AA Change: R447Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109855 Gene: ENSMUSG00000029419 AA Change: R447Q
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
92 |
N/A |
INTRINSIC |
low complexity region
|
173 |
182 |
N/A |
INTRINSIC |
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
low complexity region
|
617 |
636 |
N/A |
INTRINSIC |
low complexity region
|
815 |
843 |
N/A |
INTRINSIC |
low complexity region
|
880 |
894 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142811
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147096
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181730
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187017
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188161
AA Change: R447Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140763 Gene: ENSMUSG00000029419 AA Change: R447Q
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
92 |
N/A |
INTRINSIC |
low complexity region
|
173 |
182 |
N/A |
INTRINSIC |
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
low complexity region
|
617 |
636 |
N/A |
INTRINSIC |
low complexity region
|
815 |
843 |
N/A |
INTRINSIC |
low complexity region
|
880 |
894 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191602
AA Change: R447Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140109 Gene: ENSMUSG00000029419 AA Change: R447Q
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
92 |
N/A |
INTRINSIC |
low complexity region
|
173 |
182 |
N/A |
INTRINSIC |
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
low complexity region
|
617 |
636 |
N/A |
INTRINSIC |
low complexity region
|
815 |
843 |
N/A |
INTRINSIC |
low complexity region
|
880 |
894 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Casp8ap2 |
A |
G |
4: 32,645,687 (GRCm39) |
S1587G |
probably benign |
Het |
Cyp24a1 |
T |
C |
2: 170,337,326 (GRCm39) |
E154G |
probably benign |
Het |
Disp2 |
C |
T |
2: 118,622,303 (GRCm39) |
R1012C |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,120,882 (GRCm39) |
L2135P |
probably benign |
Het |
Epb41l2 |
A |
G |
10: 25,364,941 (GRCm39) |
R578G |
possibly damaging |
Het |
Mus81 |
G |
C |
19: 5,535,145 (GRCm39) |
R295G |
probably benign |
Het |
Myh3 |
T |
C |
11: 66,981,279 (GRCm39) |
I714T |
possibly damaging |
Het |
Myof |
A |
G |
19: 37,924,540 (GRCm39) |
L1251P |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,043,537 (GRCm39) |
Y604C |
probably damaging |
Het |
Or5ak22 |
T |
C |
2: 85,230,617 (GRCm39) |
S87G |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,672,670 (GRCm39) |
Q1091L |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,784,054 (GRCm39) |
D117N |
probably damaging |
Het |
Relch |
T |
C |
1: 105,678,089 (GRCm39) |
L1114P |
probably damaging |
Het |
Slc34a1 |
G |
A |
13: 55,559,944 (GRCm39) |
A304T |
possibly damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,286,210 (GRCm39) |
E236V |
possibly damaging |
Het |
Zfp956 |
A |
G |
6: 47,932,985 (GRCm39) |
T87A |
probably damaging |
Het |
|
Other mutations in Ajm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00909:Ajm1
|
APN |
2 |
25,469,419 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01370:Ajm1
|
APN |
2 |
25,468,969 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01973:Ajm1
|
APN |
2 |
25,469,584 (GRCm39) |
nonsense |
probably null |
|
IGL01987:Ajm1
|
APN |
2 |
25,467,970 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02534:Ajm1
|
APN |
2 |
25,467,043 (GRCm39) |
nonsense |
probably null |
|
R0457:Ajm1
|
UTSW |
2 |
25,468,358 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0799:Ajm1
|
UTSW |
2 |
25,468,574 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0931:Ajm1
|
UTSW |
2 |
25,468,501 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1477:Ajm1
|
UTSW |
2 |
25,469,765 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1559:Ajm1
|
UTSW |
2 |
25,467,043 (GRCm39) |
nonsense |
probably null |
|
R1661:Ajm1
|
UTSW |
2 |
25,469,167 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1796:Ajm1
|
UTSW |
2 |
25,468,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R3955:Ajm1
|
UTSW |
2 |
25,467,583 (GRCm39) |
nonsense |
probably null |
|
R4005:Ajm1
|
UTSW |
2 |
25,468,868 (GRCm39) |
missense |
probably benign |
0.01 |
R4342:Ajm1
|
UTSW |
2 |
25,469,120 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4579:Ajm1
|
UTSW |
2 |
25,469,661 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4621:Ajm1
|
UTSW |
2 |
25,468,412 (GRCm39) |
missense |
probably damaging |
0.96 |
R4770:Ajm1
|
UTSW |
2 |
25,469,759 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4834:Ajm1
|
UTSW |
2 |
25,469,530 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4860:Ajm1
|
UTSW |
2 |
25,468,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R4860:Ajm1
|
UTSW |
2 |
25,468,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R4887:Ajm1
|
UTSW |
2 |
25,469,759 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4888:Ajm1
|
UTSW |
2 |
25,469,759 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5472:Ajm1
|
UTSW |
2 |
25,469,714 (GRCm39) |
missense |
probably benign |
|
R5632:Ajm1
|
UTSW |
2 |
25,469,276 (GRCm39) |
missense |
probably benign |
|
R6816:Ajm1
|
UTSW |
2 |
25,469,733 (GRCm39) |
frame shift |
probably null |
|
R6818:Ajm1
|
UTSW |
2 |
25,469,733 (GRCm39) |
frame shift |
probably null |
|
R6861:Ajm1
|
UTSW |
2 |
25,469,733 (GRCm39) |
frame shift |
probably null |
|
R7164:Ajm1
|
UTSW |
2 |
25,468,579 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7543:Ajm1
|
UTSW |
2 |
25,467,410 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7748:Ajm1
|
UTSW |
2 |
25,468,971 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7783:Ajm1
|
UTSW |
2 |
25,467,820 (GRCm39) |
missense |
probably damaging |
0.97 |
R7826:Ajm1
|
UTSW |
2 |
25,468,477 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8117:Ajm1
|
UTSW |
2 |
25,469,246 (GRCm39) |
missense |
probably benign |
0.27 |
R8694:Ajm1
|
UTSW |
2 |
25,469,831 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8708:Ajm1
|
UTSW |
2 |
25,467,814 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8830:Ajm1
|
UTSW |
2 |
25,467,262 (GRCm39) |
missense |
|
|
R8904:Ajm1
|
UTSW |
2 |
25,467,914 (GRCm39) |
missense |
probably benign |
0.27 |
R8928:Ajm1
|
UTSW |
2 |
25,468,577 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9253:Ajm1
|
UTSW |
2 |
25,467,172 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGATGGTAATCTCTGGCGTGAC -3'
(R):5'- CACTTTCTACACCGAGGACTTTGGG -3'
Sequencing Primer
(F):5'- AATCTCTGGCGTGACGTACC -3'
(R):5'- GATGTACTGGCTCGGACTTACC -3'
|
Posted On |
2014-01-29 |