Incidental Mutation 'IGL02534:Ajm1'
ID |
297431 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ajm1
|
Ensembl Gene |
ENSMUSG00000029419 |
Gene Name |
apical junction component 1 |
Synonyms |
Gm996, LOC381353 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
IGL02534
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25465428-25471760 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 25467043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 956
(S956*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039156]
[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 null
Transcript: ENSMUST00000114217
AA Change: S956*
|
SMART Domains |
Protein: ENSMUSP00000109855 Gene: ENSMUSG00000029419 AA Change: S956*
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 |
probably null
Transcript: ENSMUST00000188161
AA Change: S956*
|
SMART Domains |
Protein: ENSMUSP00000140763 Gene: ENSMUSG00000029419 AA Change: S956*
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 |
probably null
Transcript: ENSMUST00000191602
AA Change: S956*
|
SMART Domains |
Protein: ENSMUSP00000140109 Gene: ENSMUSG00000029419 AA Change: S956*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aggf1 |
C |
T |
13: 95,506,030 (GRCm39) |
E186K |
possibly damaging |
Het |
Anks1b |
A |
G |
10: 90,730,979 (GRCm39) |
I932V |
probably benign |
Het |
Atg2b |
A |
G |
12: 105,609,526 (GRCm39) |
Y1361H |
probably damaging |
Het |
Bcl9 |
G |
T |
3: 97,122,545 (GRCm39) |
L85M |
probably damaging |
Het |
Bcl9l |
T |
G |
9: 44,417,036 (GRCm39) |
S291R |
probably benign |
Het |
Cpa2 |
T |
A |
6: 30,550,767 (GRCm39) |
D201E |
probably benign |
Het |
Efna5 |
A |
T |
17: 62,920,384 (GRCm39) |
C164* |
probably null |
Het |
Fhip2b |
A |
T |
14: 70,823,128 (GRCm39) |
H642Q |
probably damaging |
Het |
Fhip2b |
T |
A |
14: 70,823,630 (GRCm39) |
H580L |
probably benign |
Het |
Gm6316 |
A |
G |
12: 69,967,763 (GRCm39) |
|
probably benign |
Het |
Gucy2g |
A |
G |
19: 55,229,500 (GRCm39) |
S57P |
probably damaging |
Het |
Inf2 |
C |
A |
12: 112,576,930 (GRCm39) |
A968E |
unknown |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Mcm5 |
T |
A |
8: 75,840,861 (GRCm39) |
V222E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,398,456 (GRCm39) |
Y287C |
unknown |
Het |
Or12e9 |
T |
G |
2: 87,202,598 (GRCm39) |
S241A |
probably benign |
Het |
Or13a24 |
A |
T |
7: 140,154,554 (GRCm39) |
M163L |
probably benign |
Het |
Or14c39 |
G |
A |
7: 86,343,939 (GRCm39) |
V92M |
probably benign |
Het |
Or8u10 |
A |
G |
2: 85,915,713 (GRCm39) |
M136T |
probably damaging |
Het |
Pabpc1l |
A |
G |
2: 163,869,410 (GRCm39) |
D70G |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Ppp1r17 |
C |
A |
6: 56,003,445 (GRCm39) |
S86* |
probably null |
Het |
Rasd1 |
A |
G |
11: 59,855,615 (GRCm39) |
M6T |
possibly damaging |
Het |
Rsph14 |
C |
A |
10: 74,793,466 (GRCm39) |
V345F |
probably damaging |
Het |
Slc11a2 |
T |
A |
15: 100,299,207 (GRCm39) |
Q121L |
probably benign |
Het |
Smc5 |
A |
T |
19: 23,205,536 (GRCm39) |
|
probably null |
Het |
Tanc2 |
T |
C |
11: 105,725,994 (GRCm39) |
L386P |
probably damaging |
Het |
Tmem9b |
A |
T |
7: 109,336,164 (GRCm39) |
L160Q |
probably damaging |
Het |
Trim32 |
A |
G |
4: 65,532,906 (GRCm39) |
T488A |
possibly damaging |
Het |
Tubb1 |
A |
G |
2: 174,297,462 (GRCm39) |
I24V |
probably benign |
Het |
Upf1 |
A |
T |
8: 70,788,302 (GRCm39) |
|
probably null |
Het |
Zfp263 |
T |
A |
16: 3,564,279 (GRCm39) |
|
probably benign |
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 |
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 |
R1243:Ajm1
|
UTSW |
2 |
25,468,570 (GRCm39) |
missense |
possibly damaging |
0.66 |
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 |
|
Posted On |
2015-04-16 |