Incidental Mutation 'R4342:Ajm1'
| ID |
324153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ajm1
|
| Ensembl Gene |
ENSMUSG00000029419 |
| Gene Name |
apical junction component 1 |
| Synonyms |
Gm996, LOC381353 |
| MMRRC Submission |
041100-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R4342 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25465428-25471760 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25469120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 264
(Y264H)
|
| 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: Y264H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: Y264H
| 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: Y264H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: Y264H
| 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: Y264H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: Y264H
| 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 |
0.1167 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
C |
17: 45,827,421 (GRCm39) |
C488R |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,075,572 (GRCm39) |
H489L |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,989,447 (GRCm39) |
V3577A |
possibly damaging |
Het |
| Arhgap44 |
G |
A |
11: 64,902,887 (GRCm39) |
R401* |
probably null |
Het |
| Cbx3-ps2 |
T |
C |
13: 65,707,502 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc174 |
T |
A |
6: 91,862,337 (GRCm39) |
L86* |
probably null |
Het |
| Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
| Cers4 |
T |
C |
8: 4,571,223 (GRCm39) |
L264P |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,292,652 (GRCm39) |
S279P |
probably benign |
Het |
| Cth |
T |
A |
3: 157,630,613 (GRCm39) |
T19S |
probably damaging |
Het |
| Dnajc22 |
T |
A |
15: 99,002,345 (GRCm39) |
L330* |
probably null |
Het |
| Epas1 |
G |
A |
17: 87,131,228 (GRCm39) |
C336Y |
probably damaging |
Het |
| Evi5l |
A |
C |
8: 4,233,492 (GRCm39) |
|
probably benign |
Het |
| Fbxl2 |
A |
T |
9: 113,814,374 (GRCm39) |
H272Q |
probably benign |
Het |
| Fgd3 |
C |
T |
13: 49,427,185 (GRCm39) |
|
probably null |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fscn1 |
T |
C |
5: 142,957,776 (GRCm39) |
Y308H |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,043 (GRCm39) |
D449G |
possibly damaging |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Gpatch2l |
T |
C |
12: 86,307,453 (GRCm39) |
V277A |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,544,561 (GRCm39) |
M1385K |
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,471,453 (GRCm39) |
I605T |
possibly damaging |
Het |
| Hoxc11 |
C |
T |
15: 102,863,106 (GRCm39) |
S49F |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Ighv10-3 |
A |
T |
12: 114,487,124 (GRCm39) |
M99K |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,879,555 (GRCm39) |
T614S |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,910,756 (GRCm39) |
V461A |
probably damaging |
Het |
| Mcts2 |
G |
A |
2: 152,529,584 (GRCm39) |
V132M |
probably damaging |
Het |
| Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,460,861 (GRCm39) |
|
probably benign |
Het |
| Nek4 |
T |
C |
14: 30,675,863 (GRCm39) |
V66A |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Nhsl1 |
T |
C |
10: 18,402,437 (GRCm39) |
F1221S |
probably damaging |
Het |
| Nr1d1 |
T |
G |
11: 98,662,640 (GRCm39) |
K118Q |
probably damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,110 (GRCm39) |
S120P |
probably benign |
Het |
| Ntm |
T |
C |
9: 29,020,727 (GRCm39) |
E164G |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,231 (GRCm39) |
N308S |
probably benign |
Het |
| Parp1 |
G |
T |
1: 180,414,894 (GRCm39) |
A411S |
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,724,319 (GRCm39) |
T1301A |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,128,841 (GRCm39) |
V3954A |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,180,952 (GRCm39) |
K739I |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,016,927 (GRCm39) |
|
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,724,446 (GRCm39) |
|
probably benign |
Het |
| Scp2d1 |
T |
C |
2: 144,666,087 (GRCm39) |
L142P |
probably damaging |
Het |
| Setd5 |
AT |
ATT |
6: 113,088,281 (GRCm39) |
|
probably benign |
Het |
| Sgf29 |
G |
A |
7: 126,270,949 (GRCm39) |
C143Y |
probably damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,591,129 (GRCm39) |
I156T |
probably benign |
Het |
| Stambpl1 |
A |
G |
19: 34,211,446 (GRCm39) |
Q169R |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,457,832 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,850,575 (GRCm39) |
I878N |
probably damaging |
Het |
| Ttf1 |
C |
T |
2: 28,955,488 (GRCm39) |
S284L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
| Vmn1r14 |
T |
A |
6: 57,210,808 (GRCm39) |
Y85N |
probably benign |
Het |
| Zfp131 |
C |
T |
13: 120,237,554 (GRCm39) |
R268H |
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 |
|
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 |
|
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'- GTACTTCGCCAGCATAGTAGC -3'
(R):5'- TTTGGACATCAAGCCGGAC -3'
Sequencing Primer
(F):5'- ATAGTAGCTGCCCCCACG -3'
(R):5'- CGAAGCTCGCGATCTTGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation