Incidental Mutation 'R8162:G530012D18Rik'
| ID |
633552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
G530012D18Rik
|
| Ensembl Gene |
ENSMUSG00000094127 |
| Gene Name |
RIKEN cDNA G530012D1 gene |
| Synonyms |
|
| MMRRC Submission |
067588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R8162 (G1)
|
| Quality Score |
117.008 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85503397-85505016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 85504935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 113
(D113E)
|
| 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 |
unknown
Transcript: ENSMUST00000178024
AA Change: D113E
|
| SMART Domains |
Protein: ENSMUSP00000136816
Gene: ENSMUSG00000094127
AA Change: D113E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
122 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7b |
T |
A |
15: 77,307,430 (GRCm39) |
Q355L |
probably benign |
Het |
| Asb14 |
A |
T |
14: 26,633,945 (GRCm39) |
Q383H |
probably benign |
Het |
| Ash1l |
T |
G |
3: 88,977,553 (GRCm39) |
M2661R |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,577,313 (GRCm39) |
|
probably null |
Het |
| Ccdc40 |
G |
T |
11: 119,150,870 (GRCm39) |
|
probably null |
Het |
| Cd27 |
T |
A |
6: 125,210,188 (GRCm39) |
|
probably null |
Het |
| Ces3b |
T |
C |
8: 105,817,385 (GRCm39) |
L371S |
possibly damaging |
Het |
| Clec4a2 |
T |
A |
6: 123,117,711 (GRCm39) |
Y210N |
probably damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,394,681 (GRCm39) |
H553L |
|
Het |
| Cpne8 |
T |
C |
15: 90,503,881 (GRCm39) |
I95V |
probably benign |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,525 (GRCm39) |
T96A |
probably benign |
Het |
| Dand5 |
C |
A |
8: 85,543,147 (GRCm39) |
G110C |
probably damaging |
Het |
| Erich3 |
C |
T |
3: 154,470,210 (GRCm39) |
T1554M |
unknown |
Het |
| Evi5l |
T |
C |
8: 4,241,300 (GRCm39) |
S278P |
probably damaging |
Het |
| Farp2 |
C |
A |
1: 93,548,325 (GRCm39) |
H1003Q |
probably damaging |
Het |
| Gm13741 |
A |
C |
2: 87,486,446 (GRCm39) |
M273R |
possibly damaging |
Het |
| Gm28363 |
T |
A |
1: 117,626,641 (GRCm39) |
D26E |
unknown |
Het |
| Gm8674 |
A |
T |
13: 50,054,407 (GRCm39) |
D700E |
noncoding transcript |
Het |
| Gtf3c4 |
G |
A |
2: 28,724,593 (GRCm39) |
Q380* |
probably null |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Il1a |
A |
T |
2: 129,148,477 (GRCm39) |
S78T |
possibly damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,582,508 (GRCm39) |
|
probably null |
Het |
| Met |
A |
G |
6: 17,547,061 (GRCm39) |
D898G |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,092,863 (GRCm39) |
V101A |
probably damaging |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,221 (GRCm39) |
Y127N |
probably damaging |
Het |
| Ms4a18 |
A |
G |
19: 10,991,071 (GRCm39) |
S8P |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,197 (GRCm39) |
T148S |
unknown |
Het |
| Nutm1 |
G |
A |
2: 112,078,817 (GRCm39) |
L1033F |
probably benign |
Het |
| Ocstamp |
G |
T |
2: 165,239,787 (GRCm39) |
A133D |
probably damaging |
Het |
| Or1ab2 |
T |
G |
8: 72,864,253 (GRCm39) |
V281G |
noncoding transcript |
Het |
| Or5p63 |
T |
C |
7: 107,810,995 (GRCm39) |
H247R |
probably damaging |
Het |
| Or8g17 |
T |
A |
9: 38,930,249 (GRCm39) |
D196V |
probably benign |
Het |
| Or9s18 |
G |
A |
13: 65,300,734 (GRCm39) |
R232Q |
probably damaging |
Het |
| Phf12 |
C |
A |
11: 77,915,651 (GRCm39) |
P46Q |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,138,749 (GRCm39) |
T236A |
probably damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,884,798 (GRCm39) |
V47A |
probably benign |
Het |
| Rapgef1 |
A |
T |
2: 29,626,011 (GRCm39) |
N1071Y |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf26rt |
C |
A |
6: 76,473,558 (GRCm39) |
A353S |
probably benign |
Het |
| Tango6 |
C |
T |
8: 107,409,882 (GRCm39) |
P33L |
possibly damaging |
Het |
| Tasor2 |
G |
T |
13: 3,649,691 (GRCm39) |
T36N |
probably damaging |
Het |
| Tbc1d2b |
C |
T |
9: 90,089,937 (GRCm39) |
R864H |
probably damaging |
Het |
| Tent2 |
A |
G |
13: 93,304,432 (GRCm39) |
|
probably null |
Het |
| Trav10n |
A |
T |
14: 53,359,929 (GRCm39) |
I69L |
probably benign |
Het |
| Tsks |
A |
G |
7: 44,603,296 (GRCm39) |
Q366R |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,853,106 (GRCm39) |
S618* |
probably null |
Het |
| Vwf |
T |
A |
6: 125,622,799 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
T |
A |
8: 79,787,206 (GRCm39) |
L124* |
probably null |
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 |
|
|
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 |
|
|
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'- AGGACATCGTGAGCGTGTAC -3'
(R):5'- AGATACAGGTGTTTCCTAAAGGGG -3'
Sequencing Primer
(F):5'- ATCGTGAGCGTGTACCACAGTG -3'
(R):5'- GGGGGAAACATCAATATTCACAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation