Incidental Mutation 'R4005:Ajm1'
| ID |
311416 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4005 (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 25468868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 348
(T348A)
|
| 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 |
probably benign
Transcript: ENSMUST00000114217
AA Change: T348A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: T348A
| 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 benign
Transcript: ENSMUST00000188161
AA Change: T348A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: T348A
| 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: T348A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: T348A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
A |
3: 89,657,094 (GRCm39) |
L488Q |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,247,816 (GRCm39) |
M300T |
probably benign |
Het |
| Asl |
C |
T |
5: 130,047,673 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,130,355 (GRCm39) |
D160G |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,374,870 (GRCm39) |
E1372G |
probably damaging |
Het |
| Cpeb2 |
A |
G |
5: 43,395,755 (GRCm39) |
|
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,875,390 (GRCm39) |
A530T |
probably damaging |
Het |
| Cstl1 |
A |
T |
2: 148,597,190 (GRCm39) |
I64F |
probably damaging |
Het |
| Ddx28 |
C |
G |
8: 106,737,560 (GRCm39) |
R166P |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,635,506 (GRCm39) |
M60T |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,513,809 (GRCm39) |
R844W |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,598,204 (GRCm39) |
L1699F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,981 (GRCm39) |
L1400H |
probably benign |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Ilkap |
T |
A |
1: 91,312,985 (GRCm39) |
N170I |
probably benign |
Het |
| Kctd3 |
T |
G |
1: 188,734,124 (GRCm39) |
I39L |
possibly damaging |
Het |
| Lrit3 |
C |
A |
3: 129,585,021 (GRCm39) |
V246L |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,678,299 (GRCm39) |
I619T |
probably damaging |
Het |
| Map1b |
G |
T |
13: 99,566,415 (GRCm39) |
P2102H |
unknown |
Het |
| Mcm10 |
G |
T |
2: 5,005,814 (GRCm39) |
S440R |
probably damaging |
Het |
| Mtss2 |
CG |
CGG |
8: 111,465,673 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,257,975 (GRCm39) |
N531S |
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,579,429 (GRCm39) |
D31E |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ogn |
A |
C |
13: 49,762,775 (GRCm39) |
E39A |
possibly damaging |
Het |
| Or4g17 |
G |
A |
2: 111,210,088 (GRCm39) |
V248I |
probably benign |
Het |
| Or52z14 |
A |
G |
7: 103,253,470 (GRCm39) |
Y203C |
probably damaging |
Het |
| Or5b94 |
A |
T |
19: 12,652,210 (GRCm39) |
I214L |
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,839 (GRCm39) |
T261A |
probably benign |
Het |
| Rgs2 |
T |
A |
1: 143,877,606 (GRCm39) |
I150L |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,245,774 (GRCm39) |
D490E |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,997,265 (GRCm39) |
L769Q |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,966,195 (GRCm39) |
S144G |
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 |
|
|
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'- GTTGTCCCAGGATCGAGAGTAG -3'
(R):5'- GCAGGCAGCTTTACCACAAG -3'
Sequencing Primer
(F):5'- ATCGAGAGTAGTGGCGGCTATC -3'
(R):5'- GCTTTACCACAAGCCCCGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation