Incidental Mutation 'R7345:D630003M21Rik'
| ID |
570124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D630003M21Rik
|
| Ensembl Gene |
ENSMUSG00000037813 |
| Gene Name |
RIKEN cDNA D630003M21 gene |
| Synonyms |
|
| MMRRC Submission |
045379-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7345 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
158024453-158071142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 158059129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 257
(G257D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046944]
[ENSMUST00000103121]
[ENSMUST00000169335]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046944
AA Change: G257D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: G257D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
535 |
N/A |
INTRINSIC |
|
Blast:SEC14
|
567 |
702 |
1e-6 |
BLAST |
|
SCOP:d1aua_2
|
567 |
711 |
5e-9 |
SMART |
|
Blast:SPEC
|
712 |
824 |
3e-16 |
BLAST |
|
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1160 |
1174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103121
AA Change: G257D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: G257D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
535 |
N/A |
INTRINSIC |
|
Blast:SEC14
|
567 |
702 |
7e-7 |
BLAST |
|
SCOP:d1aua_2
|
567 |
711 |
4e-9 |
SMART |
|
Blast:SPEC
|
712 |
824 |
3e-16 |
BLAST |
|
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169335
AA Change: G257D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: G257D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
535 |
N/A |
INTRINSIC |
|
Blast:SEC14
|
567 |
702 |
7e-7 |
BLAST |
|
SCOP:d1aua_2
|
567 |
711 |
4e-9 |
SMART |
|
Blast:SPEC
|
712 |
824 |
3e-16 |
BLAST |
|
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1106 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks3 |
A |
G |
16: 4,773,774 (GRCm39) |
M174T |
possibly damaging |
Het |
| Arhgap23 |
G |
A |
11: 97,357,304 (GRCm39) |
R934Q |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 79,986,832 (GRCm39) |
S640P |
probably damaging |
Het |
| B3galnt2 |
C |
T |
13: 14,155,065 (GRCm39) |
|
probably null |
Het |
| B430305J03Rik |
T |
C |
3: 61,271,539 (GRCm39) |
S69G |
unknown |
Het |
| Cd163 |
A |
T |
6: 124,295,897 (GRCm39) |
N747I |
possibly damaging |
Het |
| Cep126 |
A |
G |
9: 8,099,817 (GRCm39) |
S906P |
probably damaging |
Het |
| Cimip2b |
T |
C |
4: 43,428,022 (GRCm39) |
D145G |
possibly damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,705,753 (GRCm39) |
G318R |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,342,583 (GRCm39) |
L139P |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,511,895 (GRCm39) |
V840A |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,353,174 (GRCm39) |
I2776L |
probably benign |
Het |
| Fbxo24 |
G |
T |
5: 137,619,523 (GRCm39) |
F234L |
probably damaging |
Het |
| Gm21190 |
T |
C |
5: 15,732,902 (GRCm39) |
|
probably null |
Het |
| Grhl3 |
C |
T |
4: 135,273,557 (GRCm39) |
R565Q |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,244,842 (GRCm39) |
Y1731N |
probably damaging |
Het |
| Il1a |
C |
A |
2: 129,146,693 (GRCm39) |
R133S |
probably benign |
Het |
| Ipo4 |
C |
T |
14: 55,872,988 (GRCm39) |
R23Q |
probably benign |
Het |
| Klc3 |
G |
A |
7: 19,128,814 (GRCm39) |
T481M |
probably benign |
Het |
| Map2k6 |
A |
T |
11: 110,383,734 (GRCm39) |
I127F |
|
Het |
| Mapk8 |
A |
T |
14: 33,130,068 (GRCm39) |
N63K |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,825 (GRCm39) |
W1306R |
probably damaging |
Het |
| Megf6 |
C |
A |
4: 154,351,772 (GRCm39) |
Q1162K |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,841,095 (GRCm39) |
E992G |
possibly damaging |
Het |
| Ndst4 |
C |
T |
3: 125,508,308 (GRCm39) |
T291M |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,955,503 (GRCm38) |
F838L |
probably benign |
Het |
| Nrm |
A |
G |
17: 36,175,476 (GRCm39) |
H194R |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,230,613 (GRCm39) |
S1384P |
probably benign |
Het |
| Olfml2a |
C |
A |
2: 38,850,139 (GRCm39) |
D618E |
probably damaging |
Het |
| Or5p78 |
C |
T |
7: 108,212,270 (GRCm39) |
T252I |
probably benign |
Het |
| Or8g23 |
A |
G |
9: 38,971,875 (GRCm39) |
L29P |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,989,630 (GRCm39) |
S137F |
probably damaging |
Het |
| Or9s18 |
A |
C |
13: 65,300,557 (GRCm39) |
N173T |
possibly damaging |
Het |
| P2ry1 |
T |
C |
3: 60,911,095 (GRCm39) |
F78S |
possibly damaging |
Het |
| Pcdhb18 |
T |
C |
18: 37,624,976 (GRCm39) |
F769L |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,533,304 (GRCm39) |
E144G |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,451,769 (GRCm39) |
N870K |
possibly damaging |
Het |
| Polr2b |
T |
C |
5: 77,496,966 (GRCm39) |
F1159L |
possibly damaging |
Het |
| Pramel32 |
T |
C |
4: 88,546,416 (GRCm39) |
K309E |
possibly damaging |
Het |
| Rubcnl |
A |
G |
14: 75,279,793 (GRCm39) |
Y392C |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,533,129 (GRCm39) |
T539A |
probably damaging |
Het |
| Serpinh1 |
A |
C |
7: 98,995,563 (GRCm39) |
S340A |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,530,085 (GRCm39) |
|
probably null |
Het |
| Soat2 |
A |
G |
15: 102,071,013 (GRCm39) |
D469G |
probably benign |
Het |
| Speg |
T |
C |
1: 75,361,479 (GRCm39) |
L70P |
probably damaging |
Het |
| Spred2 |
T |
C |
11: 19,874,958 (GRCm39) |
|
probably null |
Het |
| Stac2 |
A |
C |
11: 97,933,439 (GRCm39) |
S168A |
probably damaging |
Het |
| Stx1a |
T |
A |
5: 135,066,042 (GRCm39) |
D31E |
probably benign |
Het |
| Timeless |
C |
T |
10: 128,085,623 (GRCm39) |
T885M |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tsen34 |
T |
C |
7: 3,698,614 (GRCm39) |
Y253H |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,173,966 (GRCm39) |
V1598A |
unknown |
Het |
| Zfat |
A |
T |
15: 67,976,892 (GRCm39) |
Y1086N |
probably damaging |
Het |
| Zfp551 |
G |
A |
7: 12,150,522 (GRCm39) |
H296Y |
probably benign |
Het |
|
| Other mutations in D630003M21Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:D630003M21Rik
|
APN |
2 |
158,055,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01447:D630003M21Rik
|
APN |
2 |
158,059,276 (GRCm39) |
missense |
probably benign |
|
|
IGL01501:D630003M21Rik
|
APN |
2 |
158,042,987 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01874:D630003M21Rik
|
APN |
2 |
158,046,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02116:D630003M21Rik
|
APN |
2 |
158,045,130 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02212:D630003M21Rik
|
APN |
2 |
158,052,091 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02477:D630003M21Rik
|
APN |
2 |
158,059,408 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02644:D630003M21Rik
|
APN |
2 |
158,058,730 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02861:D630003M21Rik
|
APN |
2 |
158,042,918 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02896:D630003M21Rik
|
APN |
2 |
158,059,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03089:D630003M21Rik
|
APN |
2 |
158,058,664 (GRCm39) |
missense |
probably benign |
|
|
IGL03148:D630003M21Rik
|
APN |
2 |
158,059,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU05:D630003M21Rik
|
UTSW |
2 |
158,038,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
ANU18:D630003M21Rik
|
UTSW |
2 |
158,059,568 (GRCm39) |
missense |
probably benign |
|
|
F5770:D630003M21Rik
|
UTSW |
2 |
158,042,931 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0113:D630003M21Rik
|
UTSW |
2 |
158,038,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0147:D630003M21Rik
|
UTSW |
2 |
158,044,987 (GRCm39) |
splice site |
probably benign |
|
|
R0513:D630003M21Rik
|
UTSW |
2 |
158,042,228 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0637:D630003M21Rik
|
UTSW |
2 |
158,037,327 (GRCm39) |
intron |
probably benign |
|
|
R1594:D630003M21Rik
|
UTSW |
2 |
158,053,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1774:D630003M21Rik
|
UTSW |
2 |
158,062,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:D630003M21Rik
|
UTSW |
2 |
158,059,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:D630003M21Rik
|
UTSW |
2 |
158,045,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:D630003M21Rik
|
UTSW |
2 |
158,050,341 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2042:D630003M21Rik
|
UTSW |
2 |
158,057,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:D630003M21Rik
|
UTSW |
2 |
158,046,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2350:D630003M21Rik
|
UTSW |
2 |
158,042,931 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3157:D630003M21Rik
|
UTSW |
2 |
158,037,392 (GRCm39) |
intron |
probably benign |
|
|
R3937:D630003M21Rik
|
UTSW |
2 |
158,042,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4124:D630003M21Rik
|
UTSW |
2 |
158,038,513 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4437:D630003M21Rik
|
UTSW |
2 |
158,055,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4473:D630003M21Rik
|
UTSW |
2 |
158,055,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:D630003M21Rik
|
UTSW |
2 |
158,046,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4514:D630003M21Rik
|
UTSW |
2 |
158,046,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4729:D630003M21Rik
|
UTSW |
2 |
158,058,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:D630003M21Rik
|
UTSW |
2 |
158,038,059 (GRCm39) |
missense |
probably benign |
|
|
R4947:D630003M21Rik
|
UTSW |
2 |
158,028,116 (GRCm39) |
missense |
unknown |
|
|
R5005:D630003M21Rik
|
UTSW |
2 |
158,053,563 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5022:D630003M21Rik
|
UTSW |
2 |
158,059,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5167:D630003M21Rik
|
UTSW |
2 |
158,047,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:D630003M21Rik
|
UTSW |
2 |
158,042,955 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5488:D630003M21Rik
|
UTSW |
2 |
158,058,941 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5489:D630003M21Rik
|
UTSW |
2 |
158,058,941 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5495:D630003M21Rik
|
UTSW |
2 |
158,062,431 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5708:D630003M21Rik
|
UTSW |
2 |
158,062,312 (GRCm39) |
splice site |
probably null |
|
|
R5770:D630003M21Rik
|
UTSW |
2 |
158,037,500 (GRCm39) |
intron |
probably benign |
|
|
R5789:D630003M21Rik
|
UTSW |
2 |
158,058,734 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5817:D630003M21Rik
|
UTSW |
2 |
158,038,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:D630003M21Rik
|
UTSW |
2 |
158,046,577 (GRCm39) |
splice site |
probably null |
|
|
R5969:D630003M21Rik
|
UTSW |
2 |
158,059,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:D630003M21Rik
|
UTSW |
2 |
158,059,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6111:D630003M21Rik
|
UTSW |
2 |
158,055,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:D630003M21Rik
|
UTSW |
2 |
158,059,321 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6307:D630003M21Rik
|
UTSW |
2 |
158,057,871 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6350:D630003M21Rik
|
UTSW |
2 |
158,062,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6548:D630003M21Rik
|
UTSW |
2 |
158,047,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6583:D630003M21Rik
|
UTSW |
2 |
158,062,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6821:D630003M21Rik
|
UTSW |
2 |
158,046,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6963:D630003M21Rik
|
UTSW |
2 |
158,042,228 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7021:D630003M21Rik
|
UTSW |
2 |
158,058,670 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7210:D630003M21Rik
|
UTSW |
2 |
158,057,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7355:D630003M21Rik
|
UTSW |
2 |
158,042,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7514:D630003M21Rik
|
UTSW |
2 |
158,059,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:D630003M21Rik
|
UTSW |
2 |
158,042,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:D630003M21Rik
|
UTSW |
2 |
158,038,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7713:D630003M21Rik
|
UTSW |
2 |
158,058,698 (GRCm39) |
nonsense |
probably null |
|
|
R7792:D630003M21Rik
|
UTSW |
2 |
158,052,082 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7819:D630003M21Rik
|
UTSW |
2 |
158,058,718 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7832:D630003M21Rik
|
UTSW |
2 |
158,059,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:D630003M21Rik
|
UTSW |
2 |
158,058,510 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8482:D630003M21Rik
|
UTSW |
2 |
158,058,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8829:D630003M21Rik
|
UTSW |
2 |
158,058,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8928:D630003M21Rik
|
UTSW |
2 |
158,059,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:D630003M21Rik
|
UTSW |
2 |
158,059,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9254:D630003M21Rik
|
UTSW |
2 |
158,042,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9661:D630003M21Rik
|
UTSW |
2 |
158,047,673 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
V7580:D630003M21Rik
|
UTSW |
2 |
158,042,931 (GRCm39) |
missense |
probably benign |
0.38 |
|
V7581:D630003M21Rik
|
UTSW |
2 |
158,042,931 (GRCm39) |
missense |
probably benign |
0.38 |
|
V7583:D630003M21Rik
|
UTSW |
2 |
158,042,931 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTCTTTCCAAGCAGAGG -3'
(R):5'- AGAGTTTGTAGATGACAGACCC -3'
Sequencing Primer
(F):5'- AGAGGTGCCCCCTTAGTTCTG -3'
(R):5'- GTTTGTAGATGACAGACCCCCAATAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation