Incidental Mutation 'R8164:G530012D18Rik'
| ID |
633649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
G530012D18Rik
|
| Ensembl Gene |
ENSMUSG00000094127 |
| Gene Name |
RIKEN cDNA G530012D1 gene |
| Synonyms |
|
| MMRRC Submission |
067590-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R8164 (G1)
|
| Quality Score |
180.009 |
|
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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,767,454 (GRCm39) |
V347A |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,565,799 (GRCm39) |
I4808F |
probably damaging |
Het |
| Acaa2 |
C |
A |
18: 74,928,318 (GRCm39) |
Y182* |
probably null |
Het |
| Ankrd44 |
A |
T |
1: 54,703,138 (GRCm39) |
N644K |
probably damaging |
Het |
| Aurkaip1 |
T |
A |
4: 155,916,962 (GRCm39) |
M70K |
probably damaging |
Het |
| Brinp1 |
A |
T |
4: 68,681,158 (GRCm39) |
Y457* |
probably null |
Het |
| Brox |
A |
T |
1: 183,062,491 (GRCm39) |
C288S |
possibly damaging |
Het |
| Ccdc57 |
C |
T |
11: 120,788,788 (GRCm39) |
R353H |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,801,499 (GRCm39) |
S815T |
probably damaging |
Het |
| Cnih4 |
A |
G |
1: 180,989,691 (GRCm39) |
I101M |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,150,334 (GRCm39) |
T222A |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,460,449 (GRCm39) |
D452E |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,837 (GRCm39) |
I2463T |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,582,794 (GRCm39) |
T326A |
possibly damaging |
Het |
| F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
| Gcdh |
A |
G |
8: 85,619,181 (GRCm39) |
S128P |
probably damaging |
Het |
| Golph3l |
G |
A |
3: 95,524,517 (GRCm39) |
R256Q |
probably benign |
Het |
| Igkv2-109 |
A |
G |
6: 68,279,853 (GRCm39) |
T25A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,573,849 (GRCm39) |
V868D |
probably damaging |
Het |
| Lhx9 |
A |
T |
1: 138,760,518 (GRCm39) |
F286L |
probably damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,199 (GRCm39) |
N219Y |
probably damaging |
Het |
| Mei4 |
A |
G |
9: 81,809,642 (GRCm39) |
K242E |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,014 (GRCm39) |
M253V |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,274,457 (GRCm39) |
V1277A |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,966,566 (GRCm39) |
W1335R |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,797 (GRCm39) |
H88L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,593,339 (GRCm39) |
V675M |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,119,243 (GRCm39) |
H17Q |
possibly damaging |
Het |
| Or1p1b |
A |
T |
11: 74,130,786 (GRCm39) |
Y132F |
probably damaging |
Het |
| P2ry12 |
C |
T |
3: 59,125,037 (GRCm39) |
V213I |
possibly damaging |
Het |
| Pcdhb21 |
C |
A |
18: 37,649,057 (GRCm39) |
P729T |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf39 |
C |
G |
17: 37,254,292 (GRCm39) |
R105G |
probably damaging |
Het |
| Sbk1 |
G |
A |
7: 125,891,711 (GRCm39) |
V382M |
possibly damaging |
Het |
| Sbno1 |
T |
C |
5: 124,512,684 (GRCm39) |
T1362A |
probably benign |
Het |
| Slc2a13 |
A |
G |
15: 91,160,281 (GRCm39) |
Y558H |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,703,060 (GRCm39) |
N301K |
probably benign |
Het |
| Tet2 |
G |
T |
3: 133,172,895 (GRCm39) |
T1789N |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,226,702 (GRCm39) |
A1261V |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,833,495 (GRCm39) |
Y789* |
probably null |
Het |
| Tmprss11c |
T |
A |
5: 86,379,712 (GRCm39) |
I399F |
probably damaging |
Het |
| Tnfrsf25 |
C |
T |
4: 152,201,877 (GRCm39) |
T118I |
possibly damaging |
Het |
| Trpc4 |
A |
T |
3: 54,223,226 (GRCm39) |
M721L |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,248,368 (GRCm39) |
K5R |
probably benign |
Het |
| Wdr24 |
C |
A |
17: 26,044,923 (GRCm39) |
|
probably null |
Het |
| Zc3hc1 |
A |
T |
6: 30,390,895 (GRCm39) |
I36K |
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 |
|
|
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 |
|
|
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'- ACAGGTGTTTCCTAAAGGGG -3'
Sequencing Primer
(F):5'- TGTACCACAGTGCTGGGTCAG -3'
(R):5'- GGGGGAAACATCAATATTCACAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation