Incidental Mutation 'IGL02817:AI182371'
ID |
360832 |
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 # |
IGL02817
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
34971873-34991555 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34990661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 12
(V12A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154339
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045776]
[ENSMUST00000134940]
[ENSMUST00000226375]
[ENSMUST00000226631]
[ENSMUST00000226972]
|
AlphaFold |
A2AS37 |
Predicted Effect |
unknown
Transcript: ENSMUST00000045776
AA Change: V2A
|
SMART Domains |
Protein: ENSMUSP00000037754 Gene: ENSMUSG00000035875 AA Change: V2A
Domain | Start | End | E-Value | Type |
Pfam:A2M_N
|
133 |
227 |
4.7e-19 |
PFAM |
ANATO
|
284 |
318 |
1.97e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133477
AA Change: F4L
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134940
AA Change: V12A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154817
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226375
AA Change: V12A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226631
AA Change: V12A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226972
AA Change: V12A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ash1l |
C |
A |
3: 88,892,108 (GRCm39) |
P1329H |
probably damaging |
Het |
Bpifb3 |
T |
C |
2: 153,761,566 (GRCm39) |
V5A |
unknown |
Het |
Cep350 |
A |
G |
1: 155,804,588 (GRCm39) |
S832P |
probably damaging |
Het |
Chd1 |
A |
T |
17: 15,969,762 (GRCm39) |
H947L |
possibly damaging |
Het |
Clec4b1 |
A |
T |
6: 123,045,444 (GRCm39) |
H88L |
possibly damaging |
Het |
Col4a1 |
A |
G |
8: 11,270,259 (GRCm39) |
L859P |
probably damaging |
Het |
Cyp2f2 |
T |
A |
7: 26,828,740 (GRCm39) |
N203K |
probably damaging |
Het |
Dgka |
G |
A |
10: 128,566,097 (GRCm39) |
T351I |
probably benign |
Het |
Dmc1 |
G |
A |
15: 79,472,964 (GRCm39) |
T161I |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,887,269 (GRCm39) |
N688D |
probably benign |
Het |
Dpy19l3 |
A |
G |
7: 35,392,233 (GRCm39) |
L653P |
probably damaging |
Het |
Drc3 |
A |
G |
11: 60,275,062 (GRCm39) |
E341G |
probably benign |
Het |
Fcrl5 |
T |
G |
3: 87,343,220 (GRCm39) |
V10G |
probably benign |
Het |
Fgfr4 |
T |
C |
13: 55,304,481 (GRCm39) |
|
probably null |
Het |
Gli2 |
T |
C |
1: 118,764,101 (GRCm39) |
H1350R |
possibly damaging |
Het |
Gm3248 |
A |
G |
14: 5,945,825 (GRCm38) |
S30P |
probably benign |
Het |
Grik4 |
T |
C |
9: 42,534,235 (GRCm39) |
N349S |
probably benign |
Het |
Ifnar2 |
G |
T |
16: 91,184,880 (GRCm39) |
K90N |
probably benign |
Het |
Kcp |
A |
T |
6: 29,496,968 (GRCm39) |
I547N |
probably damaging |
Het |
L3mbtl4 |
A |
T |
17: 68,937,249 (GRCm39) |
E423D |
probably benign |
Het |
Mapkap1 |
T |
C |
2: 34,453,130 (GRCm39) |
L341P |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 118,000,251 (GRCm39) |
Q618R |
possibly damaging |
Het |
Medag |
A |
T |
5: 149,350,503 (GRCm39) |
R51* |
probably null |
Het |
Myo1f |
G |
A |
17: 33,823,532 (GRCm39) |
R1020K |
probably benign |
Het |
Myrf |
T |
C |
19: 10,202,816 (GRCm39) |
N153D |
probably benign |
Het |
Naf1 |
T |
C |
8: 67,336,177 (GRCm39) |
I368T |
probably damaging |
Het |
Nalf1 |
A |
T |
8: 9,257,994 (GRCm39) |
C385S |
probably damaging |
Het |
Ncapd2 |
A |
G |
6: 125,147,877 (GRCm39) |
|
probably null |
Het |
Nsfl1c |
T |
A |
2: 151,342,651 (GRCm39) |
S74T |
probably damaging |
Het |
Or2a51 |
A |
T |
6: 43,178,993 (GRCm39) |
R138S |
probably benign |
Het |
Or6c68 |
A |
G |
10: 129,157,764 (GRCm39) |
T91A |
probably benign |
Het |
Or8h7 |
T |
C |
2: 86,720,937 (GRCm39) |
N194S |
probably benign |
Het |
Ptgfrn |
T |
A |
3: 100,968,068 (GRCm39) |
E508D |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,674,968 (GRCm39) |
|
probably null |
Het |
Snx27 |
A |
G |
3: 94,410,770 (GRCm39) |
L460P |
probably damaging |
Het |
Sp4 |
G |
T |
12: 118,263,287 (GRCm39) |
T253K |
probably damaging |
Het |
Trio |
T |
C |
15: 27,902,967 (GRCm39) |
I165V |
probably benign |
Het |
Txnl4b |
A |
G |
8: 110,299,478 (GRCm39) |
Y146C |
probably damaging |
Het |
Vmn1r42 |
A |
G |
6: 89,822,518 (GRCm39) |
M17T |
probably damaging |
Het |
Zer1 |
T |
C |
2: 29,993,406 (GRCm39) |
I567V |
probably damaging |
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 |
IGL02961:AI182371
|
APN |
2 |
34,976,124 (GRCm39) |
missense |
possibly damaging |
0.53 |
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 |