Incidental Mutation 'IGL01131:1110038F14Rik'
ID |
278196 |
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 # |
IGL01131
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
Cfap20 |
T |
C |
8: 96,151,287 (GRCm39) |
D18G |
probably damaging |
Het |
Cpne3 |
T |
C |
4: 19,543,318 (GRCm39) |
D160G |
probably damaging |
Het |
Ercc3 |
A |
G |
18: 32,402,942 (GRCm39) |
*784W |
probably null |
Het |
Fam53b |
T |
C |
7: 132,317,511 (GRCm39) |
E377G |
probably damaging |
Het |
Far2 |
T |
C |
6: 148,052,096 (GRCm39) |
V125A |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,705,445 (GRCm39) |
E1192G |
probably benign |
Het |
Irf5 |
A |
G |
6: 29,536,102 (GRCm39) |
E372G |
probably damaging |
Het |
Kif2c |
C |
T |
4: 117,029,562 (GRCm39) |
V140M |
probably damaging |
Het |
Klre1 |
T |
C |
6: 129,561,133 (GRCm39) |
F165L |
possibly damaging |
Het |
Kmt2a |
C |
T |
9: 44,732,467 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,329,583 (GRCm39) |
C1728Y |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,753,901 (GRCm38) |
T1259N |
possibly damaging |
Het |
Nlrp9b |
A |
G |
7: 19,757,462 (GRCm39) |
D233G |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,349,933 (GRCm39) |
|
probably benign |
Het |
Nynrin |
A |
G |
14: 56,110,142 (GRCm39) |
K1750E |
probably damaging |
Het |
Or5b109 |
A |
G |
19: 13,212,103 (GRCm39) |
D163G |
probably benign |
Het |
Parp4 |
C |
A |
14: 56,823,217 (GRCm39) |
|
probably benign |
Het |
Rbms1 |
T |
C |
2: 60,589,180 (GRCm39) |
M287V |
probably benign |
Het |
Rhox3c |
G |
A |
X: 36,651,982 (GRCm39) |
R71K |
probably damaging |
Het |
Rufy1 |
A |
G |
11: 50,282,850 (GRCm39) |
L638P |
probably damaging |
Het |
Slc15a3 |
G |
A |
19: 10,834,986 (GRCm39) |
|
probably benign |
Het |
Slc26a9 |
T |
C |
1: 131,683,280 (GRCm39) |
|
probably null |
Het |
Slc6a13 |
A |
G |
6: 121,298,600 (GRCm39) |
Y150C |
probably damaging |
Het |
Slitrk6 |
A |
T |
14: 110,989,008 (GRCm39) |
L233Q |
probably damaging |
Het |
Ugt3a1 |
T |
A |
15: 9,365,248 (GRCm39) |
I287N |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,471,335 (GRCm39) |
N1778S |
probably benign |
Het |
Vmn1r212 |
T |
C |
13: 23,067,329 (GRCm39) |
N335D |
unknown |
Het |
Wdfy1 |
C |
T |
1: 79,691,589 (GRCm39) |
V273I |
probably benign |
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 |
IGL01132:1110038F14Rik
|
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 |