Incidental Mutation 'IGL01132:1110038F14Rik'
ID |
278199 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1110038F14Rik
|
Ensembl Gene |
ENSMUSG00000063236 |
Gene Name |
RIKEN cDNA 1110038F14 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
IGL01132
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
76832706-76835179 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 76834475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 124
(V124I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154907
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071792]
[ENSMUST00000229229]
[ENSMUST00000230274]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071792
AA Change: V186I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000071698 Gene: ENSMUSG00000063236 AA Change: V186I
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
low complexity region
|
21 |
39 |
N/A |
INTRINSIC |
Pfam:DUF4615
|
102 |
221 |
4e-41 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229229
AA Change: V123I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230274
AA Change: V124I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231058
|
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 |
Adcy6 |
T |
C |
15: 98,495,732 (GRCm39) |
N619S |
probably benign |
Het |
Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
Aldh1a7 |
T |
C |
19: 20,704,404 (GRCm39) |
H30R |
possibly damaging |
Het |
Birc6 |
T |
C |
17: 74,910,055 (GRCm39) |
S1483P |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,901,274 (GRCm39) |
T127A |
probably benign |
Het |
Clmn |
T |
A |
12: 104,740,810 (GRCm39) |
|
probably null |
Het |
Dcc |
A |
T |
18: 71,815,245 (GRCm39) |
Y376* |
probably null |
Het |
Dennd2b |
A |
G |
7: 109,169,212 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
C |
T |
9: 45,663,626 (GRCm39) |
R1950* |
probably null |
Het |
Eml2 |
A |
T |
7: 18,934,464 (GRCm39) |
S388C |
probably damaging |
Het |
Ext2 |
C |
T |
2: 93,621,418 (GRCm39) |
M370I |
probably benign |
Het |
Foxo1 |
C |
T |
3: 52,252,580 (GRCm39) |
R248W |
probably damaging |
Het |
Gan |
T |
A |
8: 117,923,183 (GRCm39) |
|
probably benign |
Het |
Klra1 |
A |
T |
6: 130,341,237 (GRCm39) |
C245* |
probably null |
Het |
Myh10 |
A |
T |
11: 68,659,094 (GRCm39) |
M491L |
possibly damaging |
Het |
Myrf |
A |
G |
19: 10,200,569 (GRCm39) |
Y343H |
probably damaging |
Het |
Oplah |
C |
T |
15: 76,185,157 (GRCm39) |
S852N |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,515 (GRCm39) |
V254A |
probably damaging |
Het |
Or7e168 |
G |
A |
9: 19,719,950 (GRCm39) |
S112N |
probably damaging |
Het |
Or8k37 |
A |
T |
2: 86,469,510 (GRCm39) |
C181S |
probably benign |
Het |
Prag1 |
T |
C |
8: 36,613,511 (GRCm39) |
V1021A |
probably damaging |
Het |
Rassf4 |
C |
T |
6: 116,636,568 (GRCm39) |
|
probably benign |
Het |
Sf3b3 |
T |
C |
8: 111,569,413 (GRCm39) |
I102V |
probably benign |
Het |
Slc27a4 |
T |
C |
2: 29,694,314 (GRCm39) |
I46T |
probably benign |
Het |
Slc5a12 |
T |
C |
2: 110,428,167 (GRCm39) |
V74A |
probably damaging |
Het |
Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
Tcte1 |
G |
T |
17: 45,850,788 (GRCm39) |
A355S |
possibly damaging |
Het |
|
Other mutations in 1110038F14Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01060:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01063:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01065:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01066:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01067:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01069:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01070:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01128:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01131:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01133:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01134:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01135:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01154:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01155:1110038F14Rik
|
APN |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02472:1110038F14Rik
|
APN |
15 |
76,834,578 (GRCm39) |
missense |
probably damaging |
0.98 |
ANU05:1110038F14Rik
|
UTSW |
15 |
76,834,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R1845:1110038F14Rik
|
UTSW |
15 |
76,833,863 (GRCm39) |
small insertion |
probably benign |
|
R4023:1110038F14Rik
|
UTSW |
15 |
76,833,863 (GRCm39) |
small insertion |
probably benign |
|
|
Posted On |
2015-04-16 |