Incidental Mutation 'R1245:G530012D18Rik'
ID |
152110 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
G530012D18Rik
|
Ensembl Gene |
ENSMUSG00000094127 |
Gene Name |
RIKEN cDNA G530012D1 gene |
Synonyms |
|
MMRRC Submission |
039312-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R1245 (G1)
|
Quality Score |
110 |
Status
|
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: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
T |
A |
11: 7,119,410 (GRCm39) |
|
probably benign |
Het |
Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
Cblb |
C |
A |
16: 51,867,550 (GRCm39) |
|
probably benign |
Het |
Cd22 |
A |
G |
7: 30,569,308 (GRCm39) |
S603P |
probably damaging |
Het |
Col6a6 |
G |
A |
9: 105,626,109 (GRCm39) |
R1515C |
possibly damaging |
Het |
Csf1r |
C |
A |
18: 61,247,884 (GRCm39) |
D317E |
probably benign |
Het |
Dlg2 |
T |
C |
7: 92,091,803 (GRCm39) |
|
probably benign |
Het |
Enpp3 |
G |
A |
10: 24,660,851 (GRCm39) |
|
probably benign |
Het |
Gm5828 |
A |
T |
1: 16,839,353 (GRCm39) |
|
noncoding transcript |
Het |
Gpr137c |
T |
C |
14: 45,516,522 (GRCm39) |
|
probably benign |
Het |
Ibtk |
A |
G |
9: 85,602,795 (GRCm39) |
|
probably null |
Het |
Kctd7 |
A |
G |
5: 130,177,058 (GRCm39) |
H96R |
possibly damaging |
Het |
Lmcd1 |
T |
A |
6: 112,292,673 (GRCm39) |
V175E |
probably benign |
Het |
Lrfn2 |
A |
T |
17: 49,403,277 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
C |
T |
17: 75,634,189 (GRCm39) |
|
probably benign |
Het |
Myc |
A |
G |
15: 61,859,746 (GRCm39) |
I140V |
probably damaging |
Het |
Nckap1l |
A |
G |
15: 103,364,352 (GRCm39) |
E100G |
probably damaging |
Het |
Ncs1 |
A |
G |
2: 31,174,705 (GRCm39) |
N143S |
probably benign |
Het |
Nmnat2 |
A |
G |
1: 152,987,949 (GRCm39) |
D238G |
probably benign |
Het |
Or10ag57 |
T |
A |
2: 87,218,553 (GRCm39) |
V168E |
probably benign |
Het |
Ppp2r3d |
G |
A |
9: 101,071,593 (GRCm39) |
T675I |
probably damaging |
Het |
Psma2 |
A |
G |
13: 14,787,876 (GRCm39) |
Y6C |
probably damaging |
Het |
Rspo4 |
G |
A |
2: 151,709,846 (GRCm39) |
E84K |
probably damaging |
Het |
Shank2 |
G |
A |
7: 143,965,457 (GRCm39) |
V1015I |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Smg8 |
T |
C |
11: 86,974,436 (GRCm39) |
D632G |
possibly damaging |
Het |
Sppl2a |
A |
T |
2: 126,755,441 (GRCm39) |
|
probably benign |
Het |
Svep1 |
A |
G |
4: 58,066,427 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,776,044 (GRCm39) |
K1666M |
probably damaging |
Het |
Ulk1 |
A |
G |
5: 110,937,206 (GRCm39) |
|
probably null |
Het |
Unc80 |
A |
G |
1: 66,594,254 (GRCm39) |
D1211G |
possibly damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,822,228 (GRCm39) |
Q302R |
probably benign |
Het |
Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
Wnk1 |
C |
T |
6: 119,925,418 (GRCm39) |
V1847I |
probably benign |
Het |
Zfp653 |
A |
T |
9: 21,967,718 (GRCm39) |
I529N |
probably damaging |
Het |
Zfp948 |
T |
C |
17: 21,807,104 (GRCm39) |
S99P |
probably damaging |
Het |
Zfyve9 |
A |
G |
4: 108,550,508 (GRCm39) |
|
probably benign |
Het |
Zscan29 |
T |
C |
2: 120,996,984 (GRCm39) |
T246A |
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 |
|
R1053: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 |
|
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 |
PCR Primer
(F):5'- ACATCGTGAGCGTGTACCACAG -3'
(R):5'- GGGTTTTACCTGGAGAGGATGAACG -3'
Sequencing Primer
(F):5'- CTGGGTCAGTTGTGATGAGGAC -3'
(R):5'- GAGTTACCTTATCACTAAGGGGAAAC -3'
|
Posted On |
2014-01-29 |