Incidental Mutation 'IGL00910:5031439G07Rik'
ID |
29043 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
5031439G07Rik
|
Ensembl Gene |
ENSMUSG00000036046 |
Gene Name |
RIKEN cDNA 5031439G07 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
IGL00910
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
84828137-84872503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84840020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 109
(L109P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037011
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047144]
[ENSMUST00000165743]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047144
AA Change: L109P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037011 Gene: ENSMUSG00000036046 AA Change: L109P
Domain | Start | End | E-Value | Type |
Pfam:DUF2045
|
25 |
264 |
7.4e-123 |
PFAM |
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116791
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124308
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165743
AA Change: L152P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128699 Gene: ENSMUSG00000036046 AA Change: L152P
Domain | Start | End | E-Value | Type |
Pfam:DUF2045
|
71 |
305 |
7.3e-103 |
PFAM |
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170863
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
A |
5: 125,585,772 (GRCm39) |
M316K |
probably benign |
Het |
Adarb2 |
T |
C |
13: 8,722,469 (GRCm39) |
V375A |
probably damaging |
Het |
Adgra2 |
C |
A |
8: 27,576,011 (GRCm39) |
A13E |
possibly damaging |
Het |
Ankrd34c |
A |
T |
9: 89,611,079 (GRCm39) |
S421T |
probably benign |
Het |
Bpifa6 |
A |
T |
2: 153,832,386 (GRCm39) |
M298L |
probably benign |
Het |
Casq2 |
T |
C |
3: 102,017,547 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,406,395 (GRCm39) |
T762A |
probably benign |
Het |
Dhx38 |
A |
G |
8: 110,285,666 (GRCm39) |
V389A |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,105,889 (GRCm39) |
|
probably benign |
Het |
Dnajc7 |
A |
T |
11: 100,490,017 (GRCm39) |
F79L |
possibly damaging |
Het |
Dyrk3 |
A |
G |
1: 131,064,073 (GRCm39) |
I3T |
possibly damaging |
Het |
Fchsd2 |
T |
C |
7: 100,926,833 (GRCm39) |
I641T |
probably benign |
Het |
Furin |
A |
G |
7: 80,040,744 (GRCm39) |
V698A |
probably benign |
Het |
Lratd1 |
T |
C |
12: 14,200,527 (GRCm39) |
S67G |
probably benign |
Het |
Prl2c5 |
G |
A |
13: 13,364,061 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,559,279 (GRCm39) |
|
probably benign |
Het |
Serpina6 |
G |
T |
12: 103,618,224 (GRCm39) |
|
probably benign |
Het |
Slc6a2 |
A |
G |
8: 93,722,728 (GRCm39) |
Y575C |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,393,887 (GRCm39) |
E19G |
probably damaging |
Het |
Tsfm |
G |
T |
10: 126,864,228 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 5031439G07Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02752:5031439G07Rik
|
APN |
15 |
84,840,042 (GRCm39) |
nonsense |
probably null |
|
R0269:5031439G07Rik
|
UTSW |
15 |
84,838,201 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0899:5031439G07Rik
|
UTSW |
15 |
84,833,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1302:5031439G07Rik
|
UTSW |
15 |
84,837,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1442:5031439G07Rik
|
UTSW |
15 |
84,839,833 (GRCm39) |
splice site |
probably benign |
|
R1468:5031439G07Rik
|
UTSW |
15 |
84,837,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:5031439G07Rik
|
UTSW |
15 |
84,837,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R2299:5031439G07Rik
|
UTSW |
15 |
84,837,486 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5721:5031439G07Rik
|
UTSW |
15 |
84,844,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R5912:5031439G07Rik
|
UTSW |
15 |
84,839,897 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5971:5031439G07Rik
|
UTSW |
15 |
84,871,863 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6131:5031439G07Rik
|
UTSW |
15 |
84,844,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6981:5031439G07Rik
|
UTSW |
15 |
84,833,798 (GRCm39) |
nonsense |
probably null |
|
R7173:5031439G07Rik
|
UTSW |
15 |
84,833,848 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7220:5031439G07Rik
|
UTSW |
15 |
84,837,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R7554:5031439G07Rik
|
UTSW |
15 |
84,839,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R7956:5031439G07Rik
|
UTSW |
15 |
84,834,963 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8218:5031439G07Rik
|
UTSW |
15 |
84,839,668 (GRCm39) |
missense |
probably damaging |
0.99 |
R8500:5031439G07Rik
|
UTSW |
15 |
84,871,836 (GRCm39) |
missense |
probably benign |
|
R8501:5031439G07Rik
|
UTSW |
15 |
84,844,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R8880:5031439G07Rik
|
UTSW |
15 |
84,839,867 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9032:5031439G07Rik
|
UTSW |
15 |
84,844,782 (GRCm39) |
missense |
probably benign |
0.34 |
Z1177:5031439G07Rik
|
UTSW |
15 |
84,834,843 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Posted On |
2013-04-17 |