Incidental Mutation 'R3757:G530012D18Rik'
ID |
271465 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
G530012D18Rik
|
Ensembl Gene |
ENSMUSG00000094127 |
Gene Name |
RIKEN cDNA G530012D1 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R3757 (G1)
|
Quality Score |
190 |
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
92% (35/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
A |
7: 81,986,415 (GRCm39) |
I9K |
probably benign |
Het |
Arhgap31 |
T |
C |
16: 38,457,362 (GRCm39) |
E82G |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,317,767 (GRCm39) |
S993T |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,156,624 (GRCm39) |
L134* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,509,442 (GRCm39) |
V271A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,218,124 (GRCm39) |
E153G |
probably damaging |
Het |
Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,271,312 (GRCm39) |
|
probably null |
Het |
Cts6 |
A |
T |
13: 61,349,972 (GRCm39) |
Y36* |
probably null |
Het |
Dennd3 |
C |
G |
15: 73,394,083 (GRCm39) |
A36G |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,532,790 (GRCm39) |
V1676E |
unknown |
Het |
Ercc4 |
C |
T |
16: 12,962,360 (GRCm39) |
T668M |
probably benign |
Het |
Gm10985 |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
3: 53,752,645 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
Havcr1 |
G |
T |
11: 46,643,407 (GRCm39) |
R109L |
probably damaging |
Het |
Krtap4-9 |
A |
G |
11: 99,676,444 (GRCm39) |
|
probably benign |
Het |
Layn |
T |
C |
9: 50,970,856 (GRCm39) |
E229G |
probably benign |
Het |
Lpcat3 |
T |
A |
6: 124,676,955 (GRCm39) |
|
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,546,169 (GRCm39) |
F656I |
possibly damaging |
Het |
Lypd1 |
A |
G |
1: 125,838,121 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
T |
A |
2: 111,279,602 (GRCm39) |
V39E |
possibly damaging |
Het |
Or5v1b |
T |
A |
17: 37,841,246 (GRCm39) |
I126N |
probably damaging |
Het |
Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,393,469 (GRCm39) |
V55A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,632,569 (GRCm39) |
V434I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,829,935 (GRCm39) |
T434A |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,753 (GRCm39) |
I1798T |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,590,298 (GRCm39) |
Y265C |
probably damaging |
Het |
Slc9a8 |
C |
A |
2: 167,266,050 (GRCm39) |
T9K |
probably benign |
Het |
Synpo |
T |
C |
18: 60,736,062 (GRCm39) |
D389G |
probably damaging |
Het |
Vmn1r181 |
C |
T |
7: 23,683,909 (GRCm39) |
L125F |
possibly damaging |
Het |
Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
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 |
|
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 |
|
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'- ACATCGTGAGCGTGTACCAC -3'
(R):5'- ACAGGTGTTTCCTAAAGGGG -3'
Sequencing Primer
(F):5'- TGTACCACAGTGCTGGGTCAG -3'
(R):5'- GGGGGAAACATCAATATTCACAAG -3'
|
Posted On |
2015-03-18 |