Incidental Mutation 'IGL02961:AI182371'
| ID |
365344 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AI182371
|
| Ensembl Gene |
ENSMUSG00000035875 |
| Gene Name |
expressed sequence AI182371 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL02961
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
34971873-34991555 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34976124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 258
(V258E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045776]
[ENSMUST00000134940]
[ENSMUST00000226375]
[ENSMUST00000226631]
[ENSMUST00000226972]
|
| AlphaFold |
A2AS37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045776
AA Change: V248E
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000037754
Gene: ENSMUSG00000035875
AA Change: V248E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A2M_N
|
133 |
227 |
4.7e-19 |
PFAM |
|
ANATO
|
284 |
318 |
1.97e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134940
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154817
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226375
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226631
AA Change: V259E
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226972
AA Change: V258E
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,671,731 (GRCm39) |
V2288A |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 110,437,318 (GRCm39) |
N76K |
probably damaging |
Het |
| Alg1 |
T |
A |
16: 5,052,861 (GRCm39) |
N80K |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,741,793 (GRCm39) |
M963V |
possibly damaging |
Het |
| Avil |
C |
A |
10: 126,844,175 (GRCm39) |
Q245K |
probably benign |
Het |
| Caml |
A |
G |
13: 55,779,695 (GRCm39) |
N256S |
probably benign |
Het |
| Ccdc102a |
A |
C |
8: 95,629,978 (GRCm39) |
I521S |
possibly damaging |
Het |
| Ccm2l |
A |
G |
2: 152,920,521 (GRCm39) |
T393A |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,341,837 (GRCm39) |
V91A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,751,542 (GRCm39) |
D13G |
probably damaging |
Het |
| Chsy1 |
T |
A |
7: 65,821,530 (GRCm39) |
D588E |
probably benign |
Het |
| Cilp |
T |
A |
9: 65,185,891 (GRCm39) |
V662E |
possibly damaging |
Het |
| Cog8 |
A |
G |
8: 107,782,885 (GRCm39) |
|
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,502,823 (GRCm39) |
V134A |
probably benign |
Het |
| Ctcfl |
T |
A |
2: 172,943,712 (GRCm39) |
H546L |
possibly damaging |
Het |
| Dclre1c |
A |
G |
2: 3,438,070 (GRCm39) |
D136G |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,409,240 (GRCm39) |
E379D |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,294,408 (GRCm39) |
Y808H |
possibly damaging |
Het |
| Gm7247 |
T |
A |
14: 51,602,812 (GRCm39) |
N49K |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,308,785 (GRCm39) |
I84V |
probably benign |
Het |
| Ipo7 |
C |
T |
7: 109,646,223 (GRCm39) |
P541S |
probably benign |
Het |
| Kcnc3 |
T |
C |
7: 44,240,916 (GRCm39) |
S203P |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,122,402 (GRCm39) |
D1732G |
probably benign |
Het |
| Or10q3 |
T |
A |
19: 11,847,695 (GRCm39) |
N295I |
probably damaging |
Het |
| Or52d1 |
C |
A |
7: 103,756,357 (GRCm39) |
Y290* |
probably null |
Het |
| Or5p68 |
T |
C |
7: 107,945,334 (GRCm39) |
I285V |
probably benign |
Het |
| Or5w22 |
A |
G |
2: 87,363,028 (GRCm39) |
Y217C |
probably damaging |
Het |
| Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,405,426 (GRCm39) |
L426* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,797,089 (GRCm39) |
D8E |
possibly damaging |
Het |
| Polr3a |
A |
T |
14: 24,517,108 (GRCm39) |
Y714* |
probably null |
Het |
| Pramel16 |
T |
C |
4: 143,675,717 (GRCm39) |
T370A |
probably damaging |
Het |
| Prb1c |
A |
T |
6: 132,338,371 (GRCm39) |
F282L |
unknown |
Het |
| Rasgrf1 |
T |
C |
9: 89,863,702 (GRCm39) |
V556A |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,703,941 (GRCm39) |
Y1996H |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,071,697 (GRCm39) |
L1248P |
probably damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,416,332 (GRCm39) |
L53P |
probably damaging |
Het |
| Slc22a27 |
T |
C |
19: 7,903,886 (GRCm39) |
R84G |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,097,392 (GRCm39) |
L1302P |
probably damaging |
Het |
| Srm |
T |
C |
4: 148,678,586 (GRCm39) |
V271A |
possibly damaging |
Het |
| Sycp2 |
A |
G |
2: 178,022,655 (GRCm39) |
I492T |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,256,301 (GRCm39) |
T472A |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,013,484 (GRCm39) |
D245G |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,967,075 (GRCm39) |
I274L |
probably benign |
Het |
| Vmn1r21 |
T |
C |
6: 57,820,974 (GRCm39) |
M157V |
probably benign |
Het |
| Wdr90 |
C |
A |
17: 26,067,649 (GRCm39) |
E1420* |
probably null |
Het |
| Zfp518a |
A |
T |
19: 40,903,462 (GRCm39) |
R1130S |
probably benign |
Het |
|
| Other mutations in AI182371 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02338:AI182371
|
APN |
2 |
34,975,728 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02344:AI182371
|
APN |
2 |
34,979,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02817:AI182371
|
APN |
2 |
34,990,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
3-1:AI182371
|
UTSW |
2 |
34,990,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0041:AI182371
|
UTSW |
2 |
34,975,733 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0084:AI182371
|
UTSW |
2 |
34,975,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0472:AI182371
|
UTSW |
2 |
34,975,218 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1539:AI182371
|
UTSW |
2 |
34,978,815 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1634:AI182371
|
UTSW |
2 |
34,976,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:AI182371
|
UTSW |
2 |
34,978,749 (GRCm39) |
splice site |
probably null |
|
|
R1898:AI182371
|
UTSW |
2 |
34,990,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2065:AI182371
|
UTSW |
2 |
34,976,441 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2155:AI182371
|
UTSW |
2 |
34,975,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3694:AI182371
|
UTSW |
2 |
34,975,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3900:AI182371
|
UTSW |
2 |
34,975,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4766:AI182371
|
UTSW |
2 |
34,985,829 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5071:AI182371
|
UTSW |
2 |
34,975,227 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5500:AI182371
|
UTSW |
2 |
34,990,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5907:AI182371
|
UTSW |
2 |
34,976,134 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6146:AI182371
|
UTSW |
2 |
34,987,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:AI182371
|
UTSW |
2 |
34,975,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6729:AI182371
|
UTSW |
2 |
34,974,717 (GRCm39) |
intron |
probably benign |
|
|
R6732:AI182371
|
UTSW |
2 |
34,974,717 (GRCm39) |
intron |
probably benign |
|
|
R6742:AI182371
|
UTSW |
2 |
34,974,717 (GRCm39) |
intron |
probably benign |
|
|
R6781:AI182371
|
UTSW |
2 |
34,974,717 (GRCm39) |
intron |
probably benign |
|
|
R7196:AI182371
|
UTSW |
2 |
34,976,441 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7381:AI182371
|
UTSW |
2 |
34,975,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7458:AI182371
|
UTSW |
2 |
34,976,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7466:AI182371
|
UTSW |
2 |
34,978,753 (GRCm39) |
nonsense |
probably null |
|
|
R8832:AI182371
|
UTSW |
2 |
34,985,909 (GRCm39) |
missense |
unknown |
|
|
R8933:AI182371
|
UTSW |
2 |
34,975,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8942:AI182371
|
UTSW |
2 |
34,990,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:AI182371
|
UTSW |
2 |
34,990,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9690:AI182371
|
UTSW |
2 |
34,990,600 (GRCm39) |
missense |
probably benign |
0.19 |
|
RF009:AI182371
|
UTSW |
2 |
34,979,209 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1177:AI182371
|
UTSW |
2 |
34,985,771 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation