Incidental Mutation 'IGL00905:D130040H23Rik'
ID |
27990 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
D130040H23Rik
|
Ensembl Gene |
ENSMUSG00000079038 |
Gene Name |
RIKEN cDNA D130040H23 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
IGL00905
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
69723732-69766859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69753422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 16
(K16I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078257]
[ENSMUST00000212549]
|
AlphaFold |
Q8BII3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078257
|
SMART Domains |
Protein: ENSMUSP00000077378 Gene: ENSMUSG00000079038
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
2 |
170 |
4.27e-17 |
PROSPERO |
internal_repeat_1
|
199 |
366 |
4.27e-17 |
PROSPERO |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212443
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212549
AA Change: K16I
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg16l2 |
T |
C |
7: 100,949,373 (GRCm39) |
E58G |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,055,332 (GRCm39) |
T602A |
possibly damaging |
Het |
Fam161b |
C |
T |
12: 84,404,459 (GRCm39) |
V74I |
probably benign |
Het |
Grk1 |
A |
G |
8: 13,466,068 (GRCm39) |
E504G |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,189,744 (GRCm39) |
|
probably null |
Het |
Map1s |
A |
G |
8: 71,358,673 (GRCm39) |
|
probably benign |
Het |
Mprip |
T |
C |
11: 59,662,994 (GRCm39) |
V982A |
possibly damaging |
Het |
Or5aq1b |
A |
G |
2: 86,901,563 (GRCm39) |
I305T |
probably benign |
Het |
Or8g19 |
T |
G |
9: 39,056,326 (GRCm39) |
F310C |
probably damaging |
Het |
Phf1 |
A |
T |
17: 27,155,568 (GRCm39) |
R378W |
possibly damaging |
Het |
Pramel25 |
A |
G |
4: 143,521,844 (GRCm39) |
T487A |
probably benign |
Het |
Ptpn3 |
A |
T |
4: 57,270,050 (GRCm39) |
D37E |
possibly damaging |
Het |
Rcbtb1 |
A |
G |
14: 59,465,754 (GRCm39) |
S366G |
probably benign |
Het |
Scn5a |
C |
A |
9: 119,365,567 (GRCm39) |
W360L |
probably damaging |
Het |
Scrib |
A |
G |
15: 75,936,839 (GRCm39) |
F398S |
probably damaging |
Het |
Slc25a47 |
C |
A |
12: 108,821,314 (GRCm39) |
T141K |
probably benign |
Het |
Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
Tango6 |
G |
T |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
Tmem231 |
A |
T |
8: 112,645,072 (GRCm39) |
|
probably benign |
Het |
Tnr |
G |
A |
1: 159,679,752 (GRCm39) |
R242Q |
probably benign |
Het |
Usp5 |
G |
A |
6: 124,792,576 (GRCm39) |
P821S |
probably damaging |
Het |
Utp11 |
G |
T |
4: 124,577,586 (GRCm39) |
P63Q |
probably damaging |
Het |
Vmn1r6 |
T |
A |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
|
Other mutations in D130040H23Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0164:D130040H23Rik
|
UTSW |
8 |
69,755,195 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0164:D130040H23Rik
|
UTSW |
8 |
69,755,195 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0269:D130040H23Rik
|
UTSW |
8 |
69,753,446 (GRCm39) |
missense |
probably benign |
0.00 |
R1534:D130040H23Rik
|
UTSW |
8 |
69,755,378 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1565:D130040H23Rik
|
UTSW |
8 |
69,755,812 (GRCm39) |
makesense |
probably null |
|
R1648:D130040H23Rik
|
UTSW |
8 |
69,755,633 (GRCm39) |
missense |
probably benign |
0.04 |
R1869:D130040H23Rik
|
UTSW |
8 |
69,755,354 (GRCm39) |
missense |
probably benign |
0.22 |
R1870:D130040H23Rik
|
UTSW |
8 |
69,755,354 (GRCm39) |
missense |
probably benign |
0.22 |
R1871:D130040H23Rik
|
UTSW |
8 |
69,755,354 (GRCm39) |
missense |
probably benign |
0.22 |
R2025:D130040H23Rik
|
UTSW |
8 |
69,755,525 (GRCm39) |
missense |
probably benign |
0.29 |
R3418:D130040H23Rik
|
UTSW |
8 |
69,755,579 (GRCm39) |
missense |
probably benign |
0.27 |
R3810:D130040H23Rik
|
UTSW |
8 |
69,755,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R3896:D130040H23Rik
|
UTSW |
8 |
69,755,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R4477:D130040H23Rik
|
UTSW |
8 |
69,755,155 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4478:D130040H23Rik
|
UTSW |
8 |
69,755,155 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4479:D130040H23Rik
|
UTSW |
8 |
69,755,155 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4480:D130040H23Rik
|
UTSW |
8 |
69,755,155 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6849:D130040H23Rik
|
UTSW |
8 |
69,755,303 (GRCm39) |
nonsense |
probably null |
|
R7121:D130040H23Rik
|
UTSW |
8 |
69,754,931 (GRCm39) |
missense |
probably damaging |
0.99 |
R7821:D130040H23Rik
|
UTSW |
8 |
69,752,887 (GRCm39) |
splice site |
probably null |
|
R8269:D130040H23Rik
|
UTSW |
8 |
69,755,800 (GRCm39) |
missense |
probably benign |
0.00 |
R8747:D130040H23Rik
|
UTSW |
8 |
69,755,705 (GRCm39) |
missense |
probably benign |
0.00 |
R8946:D130040H23Rik
|
UTSW |
8 |
69,755,033 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9095:D130040H23Rik
|
UTSW |
8 |
69,755,748 (GRCm39) |
frame shift |
probably null |
|
R9776:D130040H23Rik
|
UTSW |
8 |
69,755,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |