Incidental Mutation 'IGL01060:1110038F14Rik'
ID |
278126 |
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 # |
IGL01060
|
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 |
Anks4b |
A |
G |
7: 119,773,148 (GRCm39) |
T3A |
possibly damaging |
Het |
Arhgef26 |
T |
A |
3: 62,247,542 (GRCm39) |
S209T |
probably benign |
Het |
Ccdc78 |
A |
G |
17: 26,007,806 (GRCm39) |
D281G |
probably damaging |
Het |
Ccnb3 |
A |
T |
X: 6,846,513 (GRCm39) |
N1362K |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,368,918 (GRCm39) |
N1662S |
possibly damaging |
Het |
Elp1 |
C |
T |
4: 56,784,537 (GRCm39) |
|
probably null |
Het |
Ern2 |
T |
A |
7: 121,769,315 (GRCm39) |
R904W |
probably damaging |
Het |
Fam120c |
C |
T |
X: 150,252,583 (GRCm39) |
P1045S |
probably benign |
Het |
Gm12887 |
C |
T |
4: 121,473,610 (GRCm39) |
|
probably benign |
Het |
Gpld1 |
G |
A |
13: 25,166,549 (GRCm39) |
G627S |
probably damaging |
Het |
Krt77 |
T |
A |
15: 101,769,315 (GRCm39) |
|
probably benign |
Het |
Ltf |
A |
T |
9: 110,851,950 (GRCm39) |
|
probably null |
Het |
Map3k6 |
G |
T |
4: 132,974,613 (GRCm39) |
|
probably null |
Het |
Nsd1 |
G |
A |
13: 55,411,242 (GRCm39) |
G1431D |
probably damaging |
Het |
Plekhm2 |
C |
T |
4: 141,369,956 (GRCm39) |
|
probably null |
Het |
Popdc2 |
T |
A |
16: 38,194,327 (GRCm39) |
N249K |
probably damaging |
Het |
Ppm1h |
A |
G |
10: 122,743,476 (GRCm39) |
D400G |
possibly damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,588,181 (GRCm39) |
S320T |
probably damaging |
Het |
Rsph6a |
C |
T |
7: 18,788,793 (GRCm39) |
R42* |
probably null |
Het |
Sap130 |
T |
C |
18: 31,848,496 (GRCm39) |
L967P |
probably damaging |
Het |
Smyd2 |
T |
C |
1: 189,629,667 (GRCm39) |
E121G |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,426,413 (GRCm39) |
W144* |
probably null |
Het |
Taar6 |
A |
G |
10: 23,860,970 (GRCm39) |
V192A |
probably benign |
Het |
Tbc1d24 |
A |
T |
17: 24,404,802 (GRCm39) |
V114E |
probably damaging |
Het |
Trim16 |
T |
C |
11: 62,711,530 (GRCm39) |
I67T |
probably benign |
Het |
Ttll7 |
A |
G |
3: 146,615,337 (GRCm39) |
D267G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,720,073 (GRCm39) |
|
probably benign |
Het |
Vmn2r56 |
T |
A |
7: 12,447,016 (GRCm39) |
I379F |
probably damaging |
Het |
Zfp14 |
T |
C |
7: 29,737,510 (GRCm39) |
T492A |
probably damaging |
Het |
|
Other mutations in 1110038F14Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |