Incidental Mutation 'R5472:Ajm1'
ID |
433849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ajm1
|
Ensembl Gene |
ENSMUSG00000029419 |
Gene Name |
apical junction component 1 |
Synonyms |
Gm996, LOC381353 |
MMRRC Submission |
043033-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R5472 (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 25469714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 66
(T66A)
|
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: T66A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109855 Gene: ENSMUSG00000029419 AA Change: T66A
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: T66A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140763 Gene: ENSMUSG00000029419 AA Change: T66A
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: T66A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140109 Gene: ENSMUSG00000029419 AA Change: T66A
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: ENSMUST00000150206
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181730
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187017
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
T |
C |
14: 78,750,869 (GRCm39) |
N506S |
probably benign |
Het |
Brinp3 |
A |
T |
1: 146,777,197 (GRCm39) |
H548L |
possibly damaging |
Het |
Cacna1c |
A |
G |
6: 118,615,407 (GRCm39) |
V1328A |
possibly damaging |
Het |
Carmil1 |
C |
T |
13: 24,339,454 (GRCm39) |
V47I |
probably damaging |
Het |
Cdk2ap2 |
C |
A |
19: 4,148,048 (GRCm39) |
T76K |
probably benign |
Het |
Col16a1 |
T |
C |
4: 129,986,564 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,455,703 (GRCm39) |
D583G |
probably benign |
Het |
Cxcr4 |
C |
A |
1: 128,517,362 (GRCm39) |
A100S |
probably damaging |
Het |
Fancl |
G |
T |
11: 26,419,677 (GRCm39) |
C305F |
probably damaging |
Het |
Gcnt2 |
T |
C |
13: 41,107,055 (GRCm39) |
V308A |
probably benign |
Het |
Gm11733 |
A |
T |
11: 117,375,322 (GRCm39) |
I24L |
unknown |
Het |
Gm973 |
A |
G |
1: 59,667,446 (GRCm39) |
|
probably null |
Het |
Heatr5b |
A |
T |
17: 79,109,089 (GRCm39) |
F1057I |
probably damaging |
Het |
Ifi213 |
A |
T |
1: 173,394,838 (GRCm39) |
|
probably null |
Het |
Ighv1-20 |
A |
T |
12: 114,687,471 (GRCm39) |
V91E |
probably damaging |
Het |
Inhba |
A |
G |
13: 16,201,371 (GRCm39) |
E311G |
probably damaging |
Het |
Irx3 |
G |
T |
8: 92,526,108 (GRCm39) |
|
probably null |
Het |
Jag1 |
C |
A |
2: 136,926,915 (GRCm39) |
C948F |
probably damaging |
Het |
Kcna2 |
T |
C |
3: 107,012,625 (GRCm39) |
I402T |
possibly damaging |
Het |
Kcnh8 |
A |
T |
17: 53,284,844 (GRCm39) |
Q938L |
possibly damaging |
Het |
Lrsam1 |
ACC |
AC |
2: 32,835,870 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,343,854 (GRCm39) |
T2123A |
probably benign |
Het |
Mdfic2 |
A |
T |
6: 98,215,237 (GRCm39) |
C129S |
probably damaging |
Het |
Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
Msh6 |
G |
A |
17: 88,291,989 (GRCm39) |
R248Q |
possibly damaging |
Het |
Odf2l |
G |
T |
3: 144,852,627 (GRCm39) |
R457L |
probably benign |
Het |
Or6c69c |
A |
T |
10: 129,910,898 (GRCm39) |
L206F |
probably damaging |
Het |
Pphln1 |
T |
C |
15: 93,386,856 (GRCm39) |
V318A |
possibly damaging |
Het |
Ppp1r12a |
C |
T |
10: 108,075,973 (GRCm39) |
T267I |
probably damaging |
Het |
Pramel15 |
T |
C |
4: 144,103,727 (GRCm39) |
D133G |
probably benign |
Het |
Prpf8 |
A |
C |
11: 75,394,469 (GRCm39) |
K1801N |
possibly damaging |
Het |
Raf1 |
A |
G |
6: 115,603,667 (GRCm39) |
|
probably null |
Het |
Rasal3 |
C |
A |
17: 32,615,643 (GRCm39) |
L374F |
probably damaging |
Het |
S1pr3 |
T |
A |
13: 51,573,683 (GRCm39) |
V288D |
probably damaging |
Het |
Setd7 |
G |
A |
3: 51,428,886 (GRCm39) |
P315S |
probably benign |
Het |
Slx4 |
C |
T |
16: 3,809,404 (GRCm39) |
A364T |
probably benign |
Het |
Sp7 |
G |
A |
15: 102,267,749 (GRCm39) |
T19I |
probably benign |
Het |
Tlr9 |
T |
A |
9: 106,101,512 (GRCm39) |
C268S |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,992,394 (GRCm39) |
D351E |
possibly damaging |
Het |
Tmem45b |
T |
A |
9: 31,339,340 (GRCm39) |
D211V |
possibly damaging |
Het |
Tns3 |
A |
G |
11: 8,401,092 (GRCm39) |
S1069P |
probably benign |
Het |
Tsnax |
A |
G |
8: 125,742,501 (GRCm39) |
I77V |
probably benign |
Het |
Txndc5 |
G |
A |
13: 38,697,101 (GRCm39) |
L79F |
possibly damaging |
Het |
Ube2q1 |
A |
G |
3: 89,684,548 (GRCm39) |
E14G |
probably benign |
Het |
Vmn2r28 |
C |
T |
7: 5,490,943 (GRCm39) |
|
probably null |
Het |
Vwde |
A |
T |
6: 13,193,117 (GRCm39) |
D407E |
probably benign |
Het |
Wdr35 |
T |
A |
12: 9,066,619 (GRCm39) |
M749K |
probably benign |
Het |
Zfp109 |
A |
T |
7: 23,928,046 (GRCm39) |
C462* |
probably null |
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 |
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'- ATGGGGTGCAGCTCATTAG -3'
(R):5'- TTAAGATGACCCGCACGGAC -3'
Sequencing Primer
(F):5'- TCTCAGCGCAGGATACGAG -3'
(R):5'- ACCCGCCGGACTTGCTG -3'
|
Posted On |
2016-10-06 |