Incidental Mutation 'R4417:G530012D18Rik'
ID |
371145 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
G530012D18Rik
|
Ensembl Gene |
ENSMUSG00000094127 |
Gene Name |
RIKEN cDNA G530012D1 gene |
Synonyms |
|
MMRRC Submission |
041138-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R4417 (G1)
|
Quality Score |
28 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
85503397-85505016 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
G to C
at 85504923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091226
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093508]
[ENSMUST00000178024]
|
AlphaFold |
J3QK25 |
PDB Structure |
Solution structure of the SAND domain of the putative nuclear protein homolog (5830484A20Rik) [SOLUTION NMR]
|
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 |
unknown
Transcript: ENSMUST00000178024
AA Change: E109D
|
SMART Domains |
Protein: ENSMUSP00000136816 Gene: ENSMUSG00000094127 AA Change: E109D
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
T |
A |
1: 85,654,184 (GRCm39) |
Y51F |
probably damaging |
Het |
Abi3bp |
C |
A |
16: 56,474,398 (GRCm39) |
T631K |
probably damaging |
Het |
BC004004 |
G |
A |
17: 29,501,249 (GRCm39) |
|
probably benign |
Het |
Cabp1 |
G |
A |
5: 115,324,096 (GRCm39) |
S7L |
possibly damaging |
Het |
Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
Col28a1 |
T |
A |
6: 8,175,666 (GRCm39) |
I61F |
possibly damaging |
Het |
Col2a1 |
T |
C |
15: 97,896,466 (GRCm39) |
E61G |
unknown |
Het |
Col6a4 |
C |
T |
9: 105,949,215 (GRCm39) |
V807I |
probably damaging |
Het |
Crhbp |
T |
C |
13: 95,580,385 (GRCm39) |
S65G |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,872,040 (GRCm39) |
Q2730L |
possibly damaging |
Het |
Epx |
T |
A |
11: 87,760,256 (GRCm39) |
R453* |
probably null |
Het |
Fez1 |
T |
C |
9: 36,781,768 (GRCm39) |
|
probably benign |
Het |
Glp2r |
T |
C |
11: 67,555,342 (GRCm39) |
|
probably benign |
Het |
Gpm6a |
T |
A |
8: 55,503,223 (GRCm39) |
N157K |
probably damaging |
Het |
Kcnj2 |
T |
C |
11: 110,963,015 (GRCm39) |
S136P |
probably damaging |
Het |
Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
Lcp2 |
G |
T |
11: 34,000,917 (GRCm39) |
E33D |
probably benign |
Het |
Lrrc32 |
G |
T |
7: 98,148,144 (GRCm39) |
R308L |
probably benign |
Het |
Matr3 |
C |
A |
18: 35,705,171 (GRCm39) |
A32D |
probably damaging |
Het |
Mfsd12 |
A |
G |
10: 81,200,537 (GRCm39) |
|
probably benign |
Het |
Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
Notch2 |
A |
G |
3: 98,038,586 (GRCm39) |
D1243G |
possibly damaging |
Het |
Odf2 |
T |
A |
2: 29,805,333 (GRCm39) |
|
probably benign |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Or4c125 |
T |
C |
2: 89,170,331 (GRCm39) |
E105G |
probably benign |
Het |
Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
Pitpnm2 |
G |
T |
5: 124,261,632 (GRCm39) |
R977S |
probably damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,756 (GRCm39) |
E578G |
probably benign |
Het |
Pum3 |
A |
G |
19: 27,400,116 (GRCm39) |
I183T |
probably damaging |
Het |
Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
Slit1 |
A |
G |
19: 41,602,908 (GRCm39) |
C968R |
probably damaging |
Het |
Spag9 |
A |
T |
11: 93,951,172 (GRCm39) |
|
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Stradb |
T |
C |
1: 59,033,531 (GRCm39) |
V398A |
probably benign |
Het |
Tlr4 |
A |
T |
4: 66,757,540 (GRCm39) |
N111I |
probably damaging |
Het |
Tnip2 |
G |
A |
5: 34,660,925 (GRCm39) |
R176* |
probably null |
Het |
Tomm7 |
A |
G |
5: 24,048,977 (GRCm39) |
I32T |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,195,036 (GRCm39) |
I1020T |
probably benign |
Het |
Ugt1a10 |
T |
G |
1: 87,983,717 (GRCm39) |
S172A |
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,564,854 (GRCm39) |
M247K |
probably benign |
Het |
Zfp341 |
T |
C |
2: 154,470,907 (GRCm39) |
L308P |
possibly damaging |
Het |
Zmym6 |
T |
C |
4: 126,986,781 (GRCm39) |
S154P |
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 |
|
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 |
|
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'- ATCGTGAGCGTGTACCACAG -3'
(R):5'- GATACAGGTGTTTCCTAAAGGGG -3'
Sequencing Primer
(F):5'- TGTACCACAGTGCTGGGTCAG -3'
(R):5'- ACTCCCAGAATAATCTCACTTGTC -3'
|
Posted On |
2016-02-25 |