Incidental Mutation 'R5488:D630003M21Rik'
| ID |
430445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D630003M21Rik
|
| Ensembl Gene |
ENSMUSG00000037813 |
| Gene Name |
RIKEN cDNA D630003M21 gene |
| Synonyms |
|
| MMRRC Submission |
043049-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5488 (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 158058941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 320
(T320S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046944]
[ENSMUST00000103121]
[ENSMUST00000169335]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046944
AA Change: T320S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: T320S
| 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 benign
Transcript: ENSMUST00000103121
AA Change: T320S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: T320S
| 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 benign
Transcript: ENSMUST00000169335
AA Change: T320S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: T320S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,851,473 (GRCm39) |
V817D |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,183,009 (GRCm39) |
V1016A |
probably benign |
Het |
| Ano2 |
G |
T |
6: 126,016,216 (GRCm39) |
M916I |
possibly damaging |
Het |
| Aqr |
T |
C |
2: 113,963,554 (GRCm39) |
N632S |
probably damaging |
Het |
| Cd48 |
G |
A |
1: 171,523,273 (GRCm39) |
V39I |
possibly damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,848,324 (GRCm39) |
D710G |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,068,274 (GRCm39) |
T344A |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,450,505 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
A |
T |
8: 11,362,550 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,258,318 (GRCm39) |
R579H |
probably damaging |
Het |
| Cripto |
G |
A |
9: 110,772,265 (GRCm39) |
R44C |
probably benign |
Het |
| Cyp2c69 |
T |
G |
19: 39,839,603 (GRCm39) |
Q340P |
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,173,782 (GRCm39) |
S129T |
possibly damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fam13a |
A |
T |
6: 59,001,303 (GRCm39) |
L8Q |
probably null |
Het |
| Fam83b |
T |
C |
9: 76,452,881 (GRCm39) |
N62S |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,121,266 (GRCm39) |
V94E |
probably damaging |
Het |
| Gprc5a |
T |
C |
6: 135,055,868 (GRCm39) |
V105A |
probably damaging |
Het |
| Gvin3 |
T |
A |
7: 106,200,797 (GRCm39) |
|
noncoding transcript |
Het |
| Itga2 |
A |
T |
13: 114,979,971 (GRCm39) |
W1077R |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,332 (GRCm39) |
D1228G |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,713,563 (GRCm39) |
Y391H |
probably damaging |
Het |
| Kdelr2 |
T |
A |
5: 143,389,784 (GRCm39) |
I23N |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,752,335 (GRCm39) |
|
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,824,566 (GRCm39) |
E216G |
probably damaging |
Het |
| Mark4 |
G |
T |
7: 19,163,532 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
A |
G |
2: 4,996,929 (GRCm39) |
W851R |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,257,276 (GRCm39) |
Y14C |
probably benign |
Het |
| Miga1 |
CACAACAACAACAACAACA |
CACAACAACAACAACA |
3: 152,039,083 (GRCm39) |
|
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,643,958 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
A |
T |
7: 23,117,359 (GRCm39) |
D361V |
probably benign |
Het |
| Nrip3 |
T |
C |
7: 109,361,045 (GRCm39) |
T210A |
probably damaging |
Het |
| Or12d2 |
T |
C |
17: 37,624,559 (GRCm39) |
T239A |
probably damaging |
Het |
| Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,335,803 (GRCm39) |
G706S |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,382,762 (GRCm39) |
P1197L |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,489,480 (GRCm39) |
S273G |
probably benign |
Het |
| Pkn3 |
T |
C |
2: 29,978,596 (GRCm39) |
|
probably null |
Het |
| Rab40c |
G |
A |
17: 26,109,643 (GRCm39) |
T78I |
probably damaging |
Het |
| Rec8 |
A |
T |
14: 55,860,283 (GRCm39) |
Q291L |
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sart3 |
A |
G |
5: 113,909,441 (GRCm39) |
W86R |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,220,855 (GRCm39) |
D462G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,934,946 (GRCm39) |
T143A |
probably benign |
Het |
| Tardbp |
A |
G |
4: 148,703,097 (GRCm39) |
F289S |
probably benign |
Het |
| Tdpoz1 |
T |
A |
3: 93,577,974 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Tmem117 |
ACCC |
ACC |
15: 94,992,698 (GRCm39) |
|
probably null |
Het |
| Trim43a |
A |
T |
9: 88,464,229 (GRCm39) |
I47F |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,580,392 (GRCm39) |
T202S |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,770,688 (GRCm39) |
I2044L |
probably benign |
Het |
| Wdr5 |
T |
G |
2: 27,415,165 (GRCm39) |
D192E |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,193,712 (GRCm39) |
K1176E |
possibly 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 |
|
|
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 |
|
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'- TCTCCGGGACACTAGTATGG -3'
(R):5'- TATCCAGGGCTCATCAAGGTG -3'
Sequencing Primer
(F):5'- GACACTAGTATGGGGCTGC -3'
(R):5'- TCGCCTTTAGGACAGACAGTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation