Incidental Mutation 'IGL01962:AI429214'
ID |
182443 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
AI429214
|
Ensembl Gene |
ENSMUSG00000074384 |
Gene Name |
expressed sequence AI429214 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL01962
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
37460758-37462687 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37461383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 177
(I177N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098825]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098825
AA Change: I177N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096424 Gene: ENSMUSG00000074384 AA Change: I177N
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
86 |
N/A |
INTRINSIC |
Pfam:DUF4606
|
175 |
277 |
3.7e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209814
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
C |
17: 31,324,514 (GRCm39) |
F253S |
probably benign |
Het |
Astn1 |
C |
A |
1: 158,496,201 (GRCm39) |
T1077K |
probably damaging |
Het |
Asxl3 |
A |
T |
18: 22,655,502 (GRCm39) |
I1171L |
probably benign |
Het |
Cdca2 |
A |
T |
14: 67,943,172 (GRCm39) |
S206T |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,248,319 (GRCm39) |
M858V |
possibly damaging |
Het |
Cyp2j12 |
C |
T |
4: 95,987,999 (GRCm39) |
A464T |
probably benign |
Het |
Fryl |
A |
T |
5: 73,190,134 (GRCm39) |
D2787E |
possibly damaging |
Het |
Hmx3 |
G |
A |
7: 131,146,000 (GRCm39) |
R236H |
probably damaging |
Het |
Il1rap |
T |
A |
16: 26,529,318 (GRCm39) |
C330* |
probably null |
Het |
Klrc1 |
A |
T |
6: 129,655,865 (GRCm39) |
N3K |
probably damaging |
Het |
Nars1 |
A |
G |
18: 64,643,554 (GRCm39) |
F142L |
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,825,401 (GRCm39) |
S365G |
possibly damaging |
Het |
Or1n1 |
T |
A |
2: 36,749,787 (GRCm39) |
H191L |
probably benign |
Het |
Or2ag15 |
G |
A |
7: 106,340,991 (GRCm39) |
T50I |
probably benign |
Het |
Or51s1 |
T |
G |
7: 102,559,054 (GRCm39) |
|
probably benign |
Het |
Or8k17 |
C |
A |
2: 86,066,456 (GRCm39) |
R234M |
probably damaging |
Het |
Pcdhb4 |
A |
G |
18: 37,442,057 (GRCm39) |
T456A |
possibly damaging |
Het |
Pcdhb5 |
G |
A |
18: 37,454,093 (GRCm39) |
D158N |
probably damaging |
Het |
Pcsk2 |
C |
T |
2: 143,655,552 (GRCm39) |
Q579* |
probably null |
Het |
Phactr4 |
G |
A |
4: 132,091,086 (GRCm39) |
R577W |
probably damaging |
Het |
Rbms3 |
T |
C |
9: 116,524,879 (GRCm39) |
|
probably benign |
Het |
Rxfp1 |
T |
G |
3: 79,594,175 (GRCm39) |
D73A |
probably damaging |
Het |
Scmh1 |
A |
T |
4: 120,340,781 (GRCm39) |
|
probably benign |
Het |
Syk |
T |
G |
13: 52,764,993 (GRCm39) |
L40R |
probably damaging |
Het |
Tcn2 |
T |
C |
11: 3,875,072 (GRCm39) |
N153S |
probably benign |
Het |
Tnks |
A |
G |
8: 35,336,678 (GRCm39) |
L502P |
probably damaging |
Het |
Vmn2r111 |
A |
G |
17: 22,767,265 (GRCm39) |
V744A |
possibly damaging |
Het |
|
Other mutations in AI429214 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02508:AI429214
|
APN |
8 |
37,461,240 (GRCm39) |
missense |
probably benign |
|
R0973:AI429214
|
UTSW |
8 |
37,461,473 (GRCm39) |
missense |
probably benign |
0.29 |
R0973:AI429214
|
UTSW |
8 |
37,461,473 (GRCm39) |
missense |
probably benign |
0.29 |
R0974:AI429214
|
UTSW |
8 |
37,461,473 (GRCm39) |
missense |
probably benign |
0.29 |
R2007:AI429214
|
UTSW |
8 |
37,460,923 (GRCm39) |
missense |
probably benign |
0.29 |
R2113:AI429214
|
UTSW |
8 |
37,461,154 (GRCm39) |
nonsense |
probably null |
|
R2126:AI429214
|
UTSW |
8 |
37,461,362 (GRCm39) |
missense |
probably benign |
0.00 |
R2254:AI429214
|
UTSW |
8 |
37,460,920 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3409:AI429214
|
UTSW |
8 |
37,461,071 (GRCm39) |
missense |
probably benign |
0.00 |
R3411:AI429214
|
UTSW |
8 |
37,461,071 (GRCm39) |
missense |
probably benign |
0.00 |
R3852:AI429214
|
UTSW |
8 |
37,461,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R4657:AI429214
|
UTSW |
8 |
37,461,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R5766:AI429214
|
UTSW |
8 |
37,461,383 (GRCm39) |
frame shift |
probably null |
|
R5767:AI429214
|
UTSW |
8 |
37,461,383 (GRCm39) |
frame shift |
probably null |
|
R6248:AI429214
|
UTSW |
8 |
37,461,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R6888:AI429214
|
UTSW |
8 |
37,460,987 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8018:AI429214
|
UTSW |
8 |
37,460,820 (GRCm39) |
start gained |
probably benign |
|
R8817:AI429214
|
UTSW |
8 |
37,461,268 (GRCm39) |
missense |
probably benign |
0.05 |
R8985:AI429214
|
UTSW |
8 |
37,460,820 (GRCm39) |
start gained |
probably benign |
|
R9564:AI429214
|
UTSW |
8 |
37,461,067 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2014-05-07 |