Incidental Mutation 'R1053:G530012D18Rik'
ID |
94094 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
G530012D18Rik
|
Ensembl Gene |
ENSMUSG00000094127 |
Gene Name |
RIKEN cDNA G530012D1 gene |
Synonyms |
|
MMRRC Submission |
039143-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R1053 (G1)
|
Quality Score |
117 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
85503397-85505016 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CAGAGAGA to CAGAGAGAGA
at 85504945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093508]
[ENSMUST00000178024]
|
AlphaFold |
J3QK25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093508
|
SMART Domains |
Protein: ENSMUSP00000091226 Gene: ENSMUSG00000070034
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
8 |
106 |
2.3e-41 |
PFAM |
low complexity region
|
242 |
254 |
N/A |
INTRINSIC |
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
SAND
|
360 |
433 |
3.55e-28 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128339
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131950
|
Predicted Effect |
probably null
Transcript: ENSMUST00000178024
|
SMART Domains |
Protein: ENSMUSP00000136816 Gene: ENSMUSG00000094127
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
10 |
N/A |
INTRINSIC |
low complexity region
|
82 |
122 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186740
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
T |
8: 41,207,768 (GRCm39) |
N345Y |
probably benign |
Het |
Ampd3 |
G |
A |
7: 110,387,887 (GRCm39) |
G107S |
probably damaging |
Het |
Bcas3 |
T |
A |
11: 85,448,236 (GRCm39) |
I632N |
probably benign |
Het |
Cald1 |
G |
T |
6: 34,732,577 (GRCm39) |
R83L |
probably damaging |
Het |
Cds2 |
T |
A |
2: 132,147,180 (GRCm39) |
L420Q |
probably damaging |
Het |
Col6a1 |
A |
T |
10: 76,556,800 (GRCm39) |
Y266N |
probably damaging |
Het |
Ctps1 |
A |
G |
4: 120,400,919 (GRCm39) |
|
probably null |
Het |
Enam |
A |
G |
5: 88,651,878 (GRCm39) |
N1129S |
possibly damaging |
Het |
Erc1 |
T |
C |
6: 119,773,887 (GRCm39) |
E356G |
probably damaging |
Het |
Fbxl4 |
T |
A |
4: 22,427,166 (GRCm39) |
V469E |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm11568 |
A |
G |
11: 99,748,887 (GRCm39) |
T31A |
unknown |
Het |
Grm2 |
T |
G |
9: 106,525,356 (GRCm39) |
Y453S |
probably damaging |
Het |
Htt |
A |
G |
5: 35,008,561 (GRCm39) |
|
probably null |
Het |
Jakmip1 |
A |
G |
5: 37,291,593 (GRCm39) |
I681V |
possibly damaging |
Het |
Lair1 |
A |
G |
7: 4,031,784 (GRCm39) |
S108P |
probably damaging |
Het |
Lrp12 |
A |
C |
15: 39,741,377 (GRCm39) |
F446C |
probably damaging |
Het |
Ncoa6 |
C |
T |
2: 155,275,960 (GRCm39) |
R95Q |
probably damaging |
Het |
Nup210 |
T |
C |
6: 91,005,793 (GRCm39) |
T614A |
probably benign |
Het |
Or1b1 |
T |
C |
2: 36,995,476 (GRCm39) |
Y62C |
probably damaging |
Het |
Or52p2 |
A |
T |
7: 102,237,166 (GRCm39) |
Y261* |
probably null |
Het |
Or8b12 |
T |
C |
9: 37,658,131 (GRCm39) |
S234P |
probably damaging |
Het |
Ppp1r12a |
T |
C |
10: 108,098,212 (GRCm39) |
S311P |
probably damaging |
Het |
Rsph3a |
C |
A |
17: 8,164,736 (GRCm39) |
P32Q |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,902,752 (GRCm39) |
T1602A |
probably benign |
Het |
Svil |
C |
G |
18: 5,056,690 (GRCm39) |
P521R |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,652,509 (GRCm39) |
Y1580C |
probably damaging |
Het |
Vwce |
T |
C |
19: 10,641,463 (GRCm39) |
F730L |
probably benign |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zc2hc1c |
A |
G |
12: 85,343,330 (GRCm39) |
D489G |
probably damaging |
Het |
|
Other mutations in G530012D18Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
BB001:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
BB003:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
BB005:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
BB006:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
BB011:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
BB013:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
BB015:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
BB016:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
FR4340:G530012D18Rik
|
UTSW |
1 |
85,504,873 (GRCm39) |
small deletion |
probably benign |
|
FR4449:G530012D18Rik
|
UTSW |
1 |
85,504,901 (GRCm39) |
small deletion |
probably benign |
|
FR4737:G530012D18Rik
|
UTSW |
1 |
85,504,899 (GRCm39) |
frame shift |
probably null |
|
IGL03050:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
PIT4142001:G530012D18Rik
|
UTSW |
1 |
85,504,925 (GRCm39) |
utr 3 prime |
probably benign |
|
R0707:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R0730:G530012D18Rik
|
UTSW |
1 |
85,504,757 (GRCm39) |
utr 3 prime |
probably benign |
|
R0819:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R1155:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R1236:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R1245:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R1880:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R1961:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R2033:G530012D18Rik
|
UTSW |
1 |
85,504,875 (GRCm39) |
frame shift |
probably null |
|
R2055:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R2510:G530012D18Rik
|
UTSW |
1 |
85,504,925 (GRCm39) |
utr 3 prime |
probably benign |
|
R2903:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R2989:G530012D18Rik
|
UTSW |
1 |
85,504,937 (GRCm39) |
frame shift |
probably null |
|
R3000:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R3757:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R3914:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
R4358:G530012D18Rik
|
UTSW |
1 |
85,504,923 (GRCm39) |
utr 3 prime |
probably benign |
|
R4407:G530012D18Rik
|
UTSW |
1 |
85,504,923 (GRCm39) |
utr 3 prime |
probably benign |
|
R4417:G530012D18Rik
|
UTSW |
1 |
85,504,923 (GRCm39) |
utr 3 prime |
probably benign |
|
R5086:G530012D18Rik
|
UTSW |
1 |
85,504,941 (GRCm39) |
utr 3 prime |
probably benign |
|
R5389:G530012D18Rik
|
UTSW |
1 |
85,504,923 (GRCm39) |
utr 3 prime |
probably benign |
|
R7212:G530012D18Rik
|
UTSW |
1 |
85,504,864 (GRCm39) |
missense |
unknown |
|
R7823:G530012D18Rik
|
UTSW |
1 |
85,504,923 (GRCm39) |
utr 3 prime |
probably benign |
|
R7924:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R7926:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R7927:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R7928:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R7929:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8162:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8163:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8164:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8263:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8264:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8265:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8491:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8492:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8524:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8742:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
R8744:G530012D18Rik
|
UTSW |
1 |
85,504,935 (GRCm39) |
missense |
unknown |
|
X0023:G530012D18Rik
|
UTSW |
1 |
85,504,945 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
|
Posted On |
2014-01-05 |