Incidental Mutation 'R5632:Ajm1'
| ID |
439893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ajm1
|
| Ensembl Gene |
ENSMUSG00000029419 |
| Gene Name |
apical junction component 1 |
| Synonyms |
Gm996, LOC381353 |
| MMRRC Submission |
043283-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R5632 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25465428-25471760 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25469276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 212
(T212A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039156]
[ENSMUST00000058137]
[ENSMUST00000114217]
[ENSMUST00000188161]
[ENSMUST00000191602]
[ENSMUST00000187017]
|
| 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 |
probably benign
Transcript: ENSMUST00000114217
AA Change: T212A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: T212A
| 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: ENSMUST00000128942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142811
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147096
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188161
AA Change: T212A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: T212A
| 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 benign
Transcript: ENSMUST00000191602
AA Change: T212A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: T212A
| 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: ENSMUST00000181730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150206
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187017
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
C |
12: 84,664,076 (GRCm39) |
T7A |
probably benign |
Het |
| Adam33 |
T |
G |
2: 130,895,362 (GRCm39) |
D619A |
probably damaging |
Het |
| Aldh3b3 |
C |
T |
19: 4,018,522 (GRCm39) |
|
probably benign |
Het |
| Arhgef15 |
G |
A |
11: 68,844,877 (GRCm39) |
P240L |
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 52,231,795 (GRCm39) |
T727K |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,817,840 (GRCm39) |
T43A |
probably benign |
Het |
| Bcl2l15 |
A |
G |
3: 103,743,378 (GRCm39) |
N93S |
probably benign |
Het |
| Cd5l |
G |
T |
3: 87,273,414 (GRCm39) |
E128* |
probably null |
Het |
| Cep97 |
T |
C |
16: 55,735,946 (GRCm39) |
D284G |
probably benign |
Het |
| Ckmt1 |
T |
A |
2: 121,191,073 (GRCm39) |
S162T |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cpeb4 |
A |
G |
11: 31,839,877 (GRCm39) |
D53G |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,145,575 (GRCm39) |
S1485R |
probably damaging |
Het |
| Dcaf5 |
G |
A |
12: 80,444,526 (GRCm39) |
A189V |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,111,936 (GRCm39) |
G1355S |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,623,344 (GRCm39) |
P441S |
probably benign |
Het |
| Fbxo41 |
A |
G |
6: 85,461,486 (GRCm39) |
L74P |
probably damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,975 (GRCm39) |
T158A |
probably benign |
Het |
| Hcar2 |
T |
A |
5: 124,002,532 (GRCm39) |
T324S |
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,784,580 (GRCm39) |
I222V |
possibly damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,501 (GRCm39) |
|
probably benign |
Het |
| Il20 |
T |
C |
1: 130,835,165 (GRCm39) |
E151G |
probably benign |
Het |
| Jarid2 |
A |
G |
13: 45,049,766 (GRCm39) |
E236G |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,900,833 (GRCm39) |
S845P |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,007,636 (GRCm39) |
Y846C |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,672,512 (GRCm39) |
V599A |
probably benign |
Het |
| Lrrc8b |
T |
A |
5: 105,628,163 (GRCm39) |
S170T |
possibly damaging |
Het |
| Mex3d |
T |
C |
10: 80,218,428 (GRCm39) |
K263R |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,553,463 (GRCm39) |
K784E |
possibly damaging |
Het |
| Naip5 |
C |
A |
13: 100,367,170 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,229,060 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ndufs1 |
C |
T |
1: 63,189,218 (GRCm39) |
A536T |
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,516,768 (GRCm39) |
I362V |
probably benign |
Het |
| Nfatc3 |
T |
C |
8: 106,805,689 (GRCm39) |
L178P |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nsd3 |
C |
T |
8: 26,169,985 (GRCm39) |
T707M |
probably benign |
Het |
| Or51f2 |
A |
C |
7: 102,527,004 (GRCm39) |
S226R |
probably benign |
Het |
| Or5w1b |
A |
T |
2: 87,475,573 (GRCm39) |
V298E |
probably damaging |
Het |
| Or9g19 |
T |
C |
2: 85,600,613 (GRCm39) |
V156A |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,964,504 (GRCm39) |
S224T |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,058 (GRCm39) |
T957A |
probably damaging |
Het |
| Pex7 |
A |
T |
10: 19,764,483 (GRCm39) |
D153E |
probably damaging |
Het |
| Plscr1 |
A |
G |
9: 92,148,477 (GRCm39) |
E139G |
probably damaging |
Het |
| Psmb8 |
T |
C |
17: 34,420,214 (GRCm39) |
Y269H |
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,304,640 (GRCm39) |
F72L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sft2d2 |
T |
C |
1: 165,012,657 (GRCm39) |
T80A |
probably damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,829,141 (GRCm39) |
I583M |
possibly damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,933,957 (GRCm39) |
M49V |
probably benign |
Het |
| Smarcb1 |
G |
A |
10: 75,740,252 (GRCm39) |
Q309* |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,256,006 (GRCm39) |
V294E |
probably benign |
Het |
| Stoml1 |
C |
A |
9: 58,160,653 (GRCm39) |
P35Q |
probably damaging |
Het |
| Timm10b |
G |
C |
7: 105,290,329 (GRCm39) |
R42P |
probably damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,019,203 (GRCm39) |
S211T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,536,164 (GRCm39) |
T26738A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,801,452 (GRCm39) |
Y474N |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,336,732 (GRCm39) |
F1552L |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Wnt7a |
A |
C |
6: 91,371,637 (GRCm39) |
Y108* |
probably null |
Het |
| Zfp512b |
C |
T |
2: 181,227,461 (GRCm39) |
R56K |
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 |
|
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 |
|
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 |
|
|
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'- TCCTCGGTGTAGAAGAATTGGG -3'
(R):5'- ATGAGCTGCACCCCATCAAG -3'
Sequencing Primer
(F):5'- ACCTGGAGGCGTTGTGAAG -3'
(R):5'- AAGCTCCAGCCACAGCGG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation