Incidental Mutation 'R6816:Ajm1'
| ID |
537316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ajm1
|
| Ensembl Gene |
ENSMUSG00000029419 |
| Gene Name |
apical junction component 1 |
| Synonyms |
Gm996, LOC381353 |
| MMRRC Submission |
044928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6816 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25465428-25471760 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
C to CTCTA
at 25469733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000114217
|
| SMART Domains |
Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
| 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: ENSMUST00000187017
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188161
|
| SMART Domains |
Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg5 |
A |
G |
8: 95,668,311 (GRCm39) |
T458A |
probably damaging |
Het |
| Ankrd36 |
T |
G |
11: 5,593,765 (GRCm39) |
F457V |
possibly damaging |
Het |
| Cep152 |
T |
C |
2: 125,436,947 (GRCm39) |
E531G |
probably damaging |
Het |
| Dpf1 |
A |
C |
7: 29,011,087 (GRCm39) |
D162A |
possibly damaging |
Het |
| E2f8 |
A |
T |
7: 48,525,331 (GRCm39) |
Y214N |
possibly damaging |
Het |
| Fer1l5 |
A |
T |
1: 36,445,591 (GRCm39) |
Y786F |
possibly damaging |
Het |
| Fhod1 |
G |
T |
8: 106,057,176 (GRCm39) |
Q933K |
probably benign |
Het |
| Gdap2 |
T |
C |
3: 100,099,021 (GRCm39) |
|
probably null |
Het |
| Grin2d |
A |
G |
7: 45,483,106 (GRCm39) |
|
probably benign |
Het |
| H2bc22 |
C |
T |
13: 21,971,947 (GRCm39) |
S88L |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,362,397 (GRCm39) |
V112D |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,932,969 (GRCm39) |
V851E |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,887,466 (GRCm39) |
T2533S |
probably benign |
Het |
| Iqch |
C |
T |
9: 63,388,041 (GRCm39) |
V750I |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,110,517 (GRCm39) |
Y525H |
probably damaging |
Het |
| Kcnu1 |
C |
T |
8: 26,427,762 (GRCm39) |
Q360* |
probably null |
Het |
| Klk1b26 |
A |
G |
7: 43,666,292 (GRCm39) |
N245S |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,610,530 (GRCm39) |
|
probably null |
Het |
| Lhpp |
T |
C |
7: 132,235,762 (GRCm39) |
S116P |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,501,274 (GRCm39) |
D113G |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,997,227 (GRCm39) |
|
probably null |
Het |
| Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Mkrn2 |
C |
T |
6: 115,588,689 (GRCm39) |
P144L |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,777,609 (GRCm39) |
S171P |
probably damaging |
Het |
| Nrarp |
T |
C |
2: 25,071,319 (GRCm39) |
L66P |
probably damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,253 (GRCm39) |
F131I |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,761,886 (GRCm39) |
Q166R |
probably benign |
Het |
| Pigt |
G |
T |
2: 164,343,052 (GRCm39) |
V249F |
probably damaging |
Het |
| Ppp1r16b |
G |
T |
2: 158,603,595 (GRCm39) |
V407L |
probably benign |
Het |
| Pramel58 |
A |
T |
5: 94,831,773 (GRCm39) |
Q260L |
possibly damaging |
Het |
| Rab6a |
G |
T |
7: 100,279,080 (GRCm39) |
E73D |
probably damaging |
Het |
| Ralb |
C |
A |
1: 119,405,712 (GRCm39) |
G33* |
probably null |
Het |
| Sema3b |
T |
A |
9: 107,477,549 (GRCm39) |
M491L |
probably benign |
Het |
| Sema3c |
A |
C |
5: 17,875,463 (GRCm39) |
D40A |
probably benign |
Het |
| Slc22a1 |
T |
C |
17: 12,871,370 (GRCm39) |
N464D |
possibly damaging |
Het |
| Spire2 |
T |
A |
8: 124,086,152 (GRCm39) |
S295T |
probably benign |
Het |
| Stat3 |
T |
G |
11: 100,802,093 (GRCm39) |
Q32P |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,924,674 (GRCm39) |
T471A |
probably benign |
Het |
| Sult2b1 |
A |
G |
7: 45,383,102 (GRCm39) |
W227R |
probably damaging |
Het |
| Syt2 |
T |
A |
1: 134,673,538 (GRCm39) |
I294N |
probably damaging |
Het |
| Taar8b |
A |
T |
10: 23,968,079 (GRCm39) |
F38L |
probably benign |
Het |
| Tbl2 |
T |
A |
5: 135,188,069 (GRCm39) |
|
probably null |
Het |
| Tex48 |
G |
A |
4: 63,530,192 (GRCm39) |
S9L |
probably damaging |
Het |
| Tmprss2 |
A |
T |
16: 97,369,667 (GRCm39) |
M369K |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,771,435 (GRCm39) |
S280T |
probably damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,656,491 (GRCm39) |
V263A |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,610,621 (GRCm39) |
R24* |
probably null |
Het |
| Wdr35 |
G |
A |
12: 9,077,724 (GRCm39) |
|
probably null |
Het |
| Zfp202 |
A |
G |
9: 40,123,109 (GRCm39) |
R624G |
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 |
|
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 |
|
|
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'- GATGGGGTGCAGCTCATTAG -3'
(R):5'- TTAAGATGACCCGCACGGAC -3'
Sequencing Primer
(F):5'- TCTCAGCGCAGGATACGAG -3'
(R):5'- ACCCGCCGGACTTGCTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation