Incidental Mutation 'R7021:D630003M21Rik'
ID |
545603 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D630003M21Rik
|
Ensembl Gene |
ENSMUSG00000037813 |
Gene Name |
RIKEN cDNA D630003M21 gene |
Synonyms |
|
MMRRC Submission |
045122-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R7021 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158024453-158071142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 158058670 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 410
(M410K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046944]
[ENSMUST00000103121]
[ENSMUST00000169335]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046944
AA Change: M410K
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000040546 Gene: ENSMUSG00000037813 AA Change: M410K
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 |
possibly damaging
Transcript: ENSMUST00000103121
AA Change: M410K
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099410 Gene: ENSMUSG00000037813 AA Change: M410K
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 |
possibly damaging
Transcript: ENSMUST00000169335
AA Change: M410K
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130623 Gene: ENSMUSG00000037813 AA Change: M410K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
C |
4: 144,442,062 (GRCm39) |
L63R |
probably damaging |
Het |
Abcb5 |
C |
T |
12: 118,895,660 (GRCm39) |
V379I |
probably benign |
Het |
Adamts15 |
T |
C |
9: 30,832,776 (GRCm39) |
Y253C |
probably damaging |
Het |
Ahsa1 |
T |
C |
12: 87,318,154 (GRCm39) |
S37P |
possibly damaging |
Het |
Arnt2 |
A |
T |
7: 83,993,150 (GRCm39) |
L130H |
probably damaging |
Het |
Atp8b5 |
T |
A |
4: 43,355,618 (GRCm39) |
F533I |
probably damaging |
Het |
Best1 |
A |
G |
19: 9,964,143 (GRCm39) |
V439A |
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,796,978 (GRCm39) |
V127A |
probably damaging |
Het |
Brd7 |
T |
C |
8: 89,073,632 (GRCm39) |
T253A |
probably benign |
Het |
Btd |
A |
G |
14: 31,389,788 (GRCm39) |
D503G |
probably benign |
Het |
Ccdc80 |
A |
G |
16: 44,924,804 (GRCm39) |
E646G |
probably damaging |
Het |
Ccl25 |
A |
G |
8: 4,399,641 (GRCm39) |
|
probably benign |
Het |
Ccnf |
C |
A |
17: 24,461,205 (GRCm39) |
W150L |
probably damaging |
Het |
Cdk11b |
A |
T |
4: 155,726,024 (GRCm39) |
|
probably benign |
Het |
Cfap73 |
T |
C |
5: 120,768,149 (GRCm39) |
E203G |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,230,063 (GRCm39) |
E1675G |
possibly damaging |
Het |
Copg1 |
T |
A |
6: 87,871,087 (GRCm39) |
Y268N |
possibly damaging |
Het |
Csnk2a1 |
T |
A |
2: 152,102,732 (GRCm39) |
H126Q |
probably damaging |
Het |
Ctbs |
G |
A |
3: 146,160,703 (GRCm39) |
G90D |
probably damaging |
Het |
Ctnna2 |
T |
C |
6: 77,613,888 (GRCm39) |
Y221C |
probably damaging |
Het |
Cypt12 |
C |
T |
3: 18,002,635 (GRCm39) |
R3C |
unknown |
Het |
Dnah9 |
A |
T |
11: 65,872,057 (GRCm39) |
N2724K |
probably benign |
Het |
Dok3 |
T |
C |
13: 55,672,097 (GRCm39) |
T194A |
probably benign |
Het |
Edem3 |
T |
G |
1: 151,631,423 (GRCm39) |
S36A |
probably benign |
Het |
Eed |
C |
T |
7: 89,629,727 (GRCm39) |
E3K |
possibly damaging |
Het |
Efcab2 |
A |
G |
1: 178,308,925 (GRCm39) |
I143V |
probably benign |
Het |
Ensa |
A |
T |
3: 95,534,359 (GRCm39) |
|
probably null |
Het |
Galnt16 |
A |
T |
12: 80,626,826 (GRCm39) |
E219V |
probably damaging |
Het |
Gfra3 |
C |
A |
18: 34,823,933 (GRCm39) |
R347L |
probably benign |
Het |
Gm2042 |
T |
A |
12: 87,927,009 (GRCm39) |
I442K |
probably damaging |
Het |
Gpld1 |
A |
T |
13: 25,168,691 (GRCm39) |
D735V |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,269,580 (GRCm39) |
S2253P |
possibly damaging |
Het |
Kit |
T |
C |
5: 75,781,627 (GRCm39) |
I352T |
probably benign |
Het |
Klra6 |
A |
T |
6: 129,995,821 (GRCm39) |
V179E |
possibly damaging |
Het |
Lctl |
T |
A |
9: 64,040,075 (GRCm39) |
|
probably null |
Het |
Lman1 |
C |
A |
18: 66,124,714 (GRCm39) |
V342L |
probably benign |
Het |
Lrrn2 |
T |
C |
1: 132,866,522 (GRCm39) |
L529P |
probably damaging |
Het |
Mab21l2 |
A |
G |
3: 86,454,793 (GRCm39) |
I69T |
probably benign |
Het |
Mapkapk5 |
G |
T |
5: 121,665,274 (GRCm39) |
A327E |
probably benign |
Het |
Mex3b |
G |
T |
7: 82,519,080 (GRCm39) |
R465L |
possibly damaging |
Het |
Mgat3 |
A |
G |
15: 80,096,655 (GRCm39) |
N494S |
probably damaging |
Het |
Mgat4c |
A |
G |
10: 102,224,289 (GRCm39) |
R168G |
possibly damaging |
Het |
Mkks |
A |
G |
2: 136,718,007 (GRCm39) |
|
probably null |
Het |
Muc16 |
G |
T |
9: 18,466,215 (GRCm39) |
H7368N |
unknown |
Het |
Muc16 |
T |
C |
9: 18,462,127 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
G |
A |
1: 60,300,745 (GRCm39) |
|
probably null |
Het |
Notch2 |
T |
C |
3: 98,042,762 (GRCm39) |
S1376P |
probably benign |
Het |
Obox5 |
A |
G |
7: 15,491,681 (GRCm39) |
|
probably null |
Het |
Or10j5 |
T |
C |
1: 172,784,494 (GRCm39) |
I44T |
probably benign |
Het |
Or6c8b |
A |
T |
10: 128,882,899 (GRCm39) |
I11N |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,789,773 (GRCm39) |
I807V |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,628,593 (GRCm39) |
V962E |
probably damaging |
Het |
Pkd2l1 |
T |
C |
19: 44,142,647 (GRCm39) |
Q465R |
probably damaging |
Het |
Pla1a |
A |
G |
16: 38,221,244 (GRCm39) |
I372T |
probably damaging |
Het |
Prmt5 |
A |
C |
14: 54,752,845 (GRCm39) |
F122C |
probably damaging |
Het |
Prrc2b |
T |
A |
2: 32,111,498 (GRCm39) |
S1905T |
probably damaging |
Het |
Ptprf |
T |
G |
4: 118,081,101 (GRCm39) |
K1163N |
probably benign |
Het |
Rab3ip |
A |
G |
10: 116,775,283 (GRCm39) |
V25A |
probably damaging |
Het |
Raf1 |
T |
C |
6: 115,597,300 (GRCm39) |
|
probably null |
Het |
Rnf180 |
T |
C |
13: 105,407,429 (GRCm39) |
E40G |
probably benign |
Het |
Rpl6 |
T |
A |
5: 121,346,972 (GRCm39) |
M289K |
probably benign |
Het |
Slc25a32 |
A |
G |
15: 38,963,321 (GRCm39) |
F167L |
probably benign |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,188,205 (GRCm39) |
|
probably null |
Het |
Sppl2a |
A |
G |
2: 126,769,663 (GRCm39) |
|
probably null |
Het |
Tbr1 |
T |
A |
2: 61,637,688 (GRCm39) |
D82E |
probably benign |
Het |
Tbx10 |
A |
T |
19: 4,048,961 (GRCm39) |
T291S |
probably benign |
Het |
Tlr1 |
T |
A |
5: 65,083,056 (GRCm39) |
H507L |
possibly damaging |
Het |
Trim37 |
A |
C |
11: 87,058,335 (GRCm39) |
T338P |
probably benign |
Het |
Trpv5 |
T |
C |
6: 41,630,204 (GRCm39) |
T629A |
probably benign |
Het |
Ttc14 |
T |
A |
3: 33,857,646 (GRCm39) |
I249N |
probably damaging |
Het |
Uhrf1 |
A |
G |
17: 56,627,450 (GRCm39) |
T661A |
probably benign |
Het |
Vmn2r65 |
A |
G |
7: 84,596,587 (GRCm39) |
I156T |
probably benign |
Het |
Vwde |
T |
C |
6: 13,186,905 (GRCm39) |
N861D |
probably damaging |
Het |
Zan |
A |
G |
5: 137,422,213 (GRCm39) |
C2802R |
unknown |
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 |
R7210:D630003M21Rik
|
UTSW |
2 |
158,057,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7345:D630003M21Rik
|
UTSW |
2 |
158,059,129 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCTTTCAAGAAGGAGAACTGGAGC -3'
(R):5'- ACCTCTGCTTGGAAAGACCC -3'
Sequencing Primer
(F):5'- GGCGTTCTTATTGAGGCA -3'
(R):5'- ACCTCCCTTGGGAAGATGG -3'
|
Posted On |
2019-05-13 |