Incidental Mutation 'R4947:D630003M21Rik'
ID |
383478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D630003M21Rik
|
Ensembl Gene |
ENSMUSG00000037813 |
Gene Name |
RIKEN cDNA D630003M21 gene |
Synonyms |
|
MMRRC Submission |
042544-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R4947 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158024453-158071142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 158028116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 1095
(T1095S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103121]
[ENSMUST00000169335]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000103121
AA Change: T1095S
|
SMART Domains |
Protein: ENSMUSP00000099410 Gene: ENSMUSG00000037813 AA Change: T1095S
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 |
unknown
Transcript: ENSMUST00000169335
AA Change: T1095S
|
SMART Domains |
Protein: ENSMUSP00000130623 Gene: ENSMUSG00000037813 AA Change: T1095S
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 |
0.0869 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.4%
|
Validation Efficiency |
100% (88/88) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
T |
A |
7: 130,959,343 (GRCm39) |
H119L |
probably damaging |
Het |
Acvr1c |
T |
A |
2: 58,205,987 (GRCm39) |
Q41L |
probably benign |
Het |
Adamtsl1 |
A |
T |
4: 85,683,037 (GRCm39) |
Q36L |
possibly damaging |
Het |
Bcl2a1a |
G |
A |
9: 88,839,335 (GRCm39) |
E78K |
probably damaging |
Het |
Cdk5rap2 |
A |
G |
4: 70,146,829 (GRCm39) |
|
probably null |
Het |
Copg1 |
C |
A |
6: 87,880,455 (GRCm39) |
|
probably benign |
Het |
Crb2 |
C |
T |
2: 37,685,343 (GRCm39) |
|
probably benign |
Het |
Cstdc6 |
T |
C |
16: 36,142,127 (GRCm39) |
Y83C |
probably damaging |
Het |
Ctbp2 |
C |
A |
7: 132,601,012 (GRCm39) |
G584C |
probably damaging |
Het |
Cyp11b2 |
T |
C |
15: 74,723,419 (GRCm39) |
N415S |
possibly damaging |
Het |
D630045J12Rik |
C |
T |
6: 38,125,478 (GRCm39) |
R1512H |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,272,518 (GRCm39) |
V1078E |
probably benign |
Het |
Donson |
A |
T |
16: 91,479,439 (GRCm39) |
D366E |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,114,201 (GRCm39) |
E1163G |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,789,237 (GRCm39) |
K601R |
probably benign |
Het |
Fez1 |
A |
C |
9: 36,780,171 (GRCm39) |
I323L |
probably damaging |
Het |
Flacc1 |
T |
A |
1: 58,715,698 (GRCm39) |
T173S |
probably benign |
Het |
Fmnl2 |
T |
G |
2: 52,963,722 (GRCm39) |
S285A |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,884,371 (GRCm39) |
S1194P |
probably damaging |
Het |
Gm10754 |
A |
T |
10: 97,518,010 (GRCm39) |
|
probably benign |
Het |
Gm14226 |
A |
T |
2: 154,866,879 (GRCm39) |
T279S |
probably benign |
Het |
Gm16332 |
G |
A |
1: 139,793,730 (GRCm39) |
|
noncoding transcript |
Het |
Gm21718 |
T |
A |
14: 51,553,416 (GRCm39) |
|
noncoding transcript |
Het |
Gm9871 |
A |
G |
6: 101,773,734 (GRCm39) |
|
noncoding transcript |
Het |
Grm1 |
A |
G |
10: 10,658,377 (GRCm39) |
F371S |
probably damaging |
Het |
Gtdc1 |
T |
C |
2: 44,481,968 (GRCm39) |
I128V |
probably null |
Het |
H2-Q3 |
T |
A |
17: 35,578,708 (GRCm39) |
|
noncoding transcript |
Het |
Ibtk |
T |
C |
9: 85,592,465 (GRCm39) |
T998A |
probably benign |
Het |
Ifi204 |
A |
G |
1: 173,583,316 (GRCm39) |
S301P |
probably damaging |
Het |
Kcnn1 |
C |
A |
8: 71,297,073 (GRCm39) |
A545S |
probably benign |
Het |
Keap1 |
T |
G |
9: 21,148,849 (GRCm39) |
S53R |
probably benign |
Het |
Lat |
A |
G |
7: 125,967,110 (GRCm39) |
V138A |
probably benign |
Het |
Lrpprc |
A |
T |
17: 85,078,966 (GRCm39) |
N249K |
probably benign |
Het |
Lrrc40 |
A |
G |
3: 157,769,472 (GRCm39) |
I557V |
probably benign |
Het |
Maml3 |
A |
G |
3: 51,763,960 (GRCm39) |
F335L |
probably benign |
Het |
Mcmbp |
A |
T |
7: 128,314,420 (GRCm39) |
D265E |
probably damaging |
Het |
Me3 |
A |
G |
7: 89,282,222 (GRCm39) |
H35R |
probably benign |
Het |
Mif4gd |
C |
A |
11: 115,500,463 (GRCm39) |
V32L |
probably benign |
Het |
Mlana |
T |
C |
19: 29,677,551 (GRCm39) |
S18P |
probably damaging |
Het |
Mpnd |
T |
A |
17: 56,317,268 (GRCm39) |
|
probably benign |
Het |
Ms4a4b |
T |
C |
19: 11,432,101 (GRCm39) |
V74A |
probably benign |
Het |
Mta2 |
T |
C |
19: 8,923,655 (GRCm39) |
F133L |
possibly damaging |
Het |
Myo5a |
A |
G |
9: 75,030,330 (GRCm39) |
M150V |
probably damaging |
Het |
Nbr1 |
T |
C |
11: 101,465,903 (GRCm39) |
V487A |
probably benign |
Het |
Nos3 |
G |
A |
5: 24,582,853 (GRCm39) |
C660Y |
probably damaging |
Het |
Ocln |
T |
C |
13: 100,676,223 (GRCm39) |
D90G |
probably damaging |
Het |
Or12d17 |
T |
C |
17: 37,777,634 (GRCm39) |
V179A |
probably damaging |
Het |
Or1e1c |
C |
T |
11: 73,266,243 (GRCm39) |
R223* |
probably null |
Het |
Or52n5 |
A |
G |
7: 104,587,949 (GRCm39) |
D72G |
possibly damaging |
Het |
Or5h18 |
A |
G |
16: 58,847,808 (GRCm39) |
L154P |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,879,258 (GRCm39) |
K938E |
probably damaging |
Het |
Pcgf3 |
T |
C |
5: 108,635,827 (GRCm39) |
F166L |
probably benign |
Het |
Pid1 |
A |
T |
1: 84,015,981 (GRCm39) |
V128E |
possibly damaging |
Het |
Polr3a |
A |
C |
14: 24,532,532 (GRCm39) |
D187E |
probably benign |
Het |
Prokr2 |
T |
C |
2: 132,215,573 (GRCm39) |
D135G |
probably damaging |
Het |
Rnf141 |
T |
C |
7: 110,424,527 (GRCm39) |
T14A |
possibly damaging |
Het |
Serinc1 |
T |
C |
10: 57,399,141 (GRCm39) |
E254G |
probably damaging |
Het |
Silc1 |
A |
T |
12: 27,210,227 (GRCm39) |
|
noncoding transcript |
Het |
Skint11 |
T |
C |
4: 114,048,707 (GRCm39) |
F11L |
possibly damaging |
Het |
Slc22a28 |
T |
C |
19: 8,108,816 (GRCm39) |
T109A |
probably benign |
Het |
Sntg1 |
C |
A |
1: 8,853,022 (GRCm39) |
V43L |
probably damaging |
Het |
Sp140l2 |
G |
A |
1: 85,090,203 (GRCm39) |
A124V |
probably damaging |
Het |
Strn |
T |
C |
17: 78,969,208 (GRCm39) |
D398G |
probably damaging |
Het |
Tacc2 |
A |
T |
7: 130,227,629 (GRCm39) |
E1438V |
probably damaging |
Het |
Tas2r139 |
A |
G |
6: 42,118,500 (GRCm39) |
T211A |
possibly damaging |
Het |
Tbkbp1 |
T |
C |
11: 97,029,770 (GRCm39) |
|
probably benign |
Het |
Thbs3 |
T |
C |
3: 89,133,738 (GRCm39) |
Y897H |
probably damaging |
Het |
Timm50 |
G |
T |
7: 28,009,469 (GRCm39) |
|
probably benign |
Het |
Tmem132a |
T |
C |
19: 10,844,298 (GRCm39) |
Q100R |
possibly damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Unc93b1 |
C |
A |
19: 3,985,871 (GRCm39) |
T90K |
probably benign |
Het |
Upk3bl |
T |
C |
5: 136,086,099 (GRCm39) |
|
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,821,860 (GRCm39) |
H179Q |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,049,919 (GRCm39) |
F610Y |
probably damaging |
Het |
Vmn2r80 |
T |
G |
10: 79,030,532 (GRCm39) |
L786R |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,726,083 (GRCm39) |
T323A |
probably benign |
Het |
Zfp532 |
T |
C |
18: 65,758,137 (GRCm39) |
I690T |
possibly damaging |
Het |
Zfp729b |
T |
C |
13: 67,744,791 (GRCm39) |
N47S |
probably damaging |
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 |
|
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 |
|
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'- TCTGGGGTCTATGACTCTCC -3'
(R):5'- GGGATTGTTTTCTGACTCTAACACATC -3'
Sequencing Primer
(F):5'- ACTCTCCAGTCAGGGGTTC -3'
(R):5'- ACCCATAAAACTGACAGAGTTAATTC -3'
|
Posted On |
2016-04-27 |