Incidental Mutation 'R2042:D630003M21Rik'
| ID |
225021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D630003M21Rik
|
| Ensembl Gene |
ENSMUSG00000037813 |
| Gene Name |
RIKEN cDNA D630003M21 gene |
| Synonyms |
|
| MMRRC Submission |
040049-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2042 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
158024453-158071142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 158057769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 570
(S570T)
|
| 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: S570T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: S570T
| 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: S570T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: S570T
| 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: S570T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: S570T
| 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 |
0.0760 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
A |
3: 124,210,377 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
G |
A |
7: 120,143,941 (GRCm39) |
R1653Q |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,439 (GRCm39) |
Y176F |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,853,904 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
C |
9: 95,752,075 (GRCm39) |
L564S |
probably benign |
Het |
| Birc6 |
C |
G |
17: 74,916,654 (GRCm39) |
A1774G |
probably damaging |
Het |
| Cacng1 |
C |
T |
11: 107,595,134 (GRCm39) |
A148T |
probably damaging |
Het |
| Cd53 |
T |
A |
3: 106,674,740 (GRCm39) |
|
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,309,811 (GRCm39) |
F1596S |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,868,814 (GRCm39) |
F122I |
possibly damaging |
Het |
| Ckm |
A |
T |
7: 19,148,082 (GRCm39) |
H7L |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,814,844 (GRCm39) |
V1575A |
possibly damaging |
Het |
| Cspp1 |
A |
G |
1: 10,182,763 (GRCm39) |
E712G |
probably damaging |
Het |
| Cyp2b23 |
C |
A |
7: 26,365,533 (GRCm39) |
R434L |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,708,089 (GRCm39) |
I1444V |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,854,632 (GRCm39) |
V98A |
probably benign |
Het |
| Dtx1 |
T |
G |
5: 120,832,541 (GRCm39) |
N299T |
probably benign |
Het |
| Efr3b |
T |
A |
12: 4,034,627 (GRCm39) |
D65V |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,755,607 (GRCm39) |
C323R |
probably damaging |
Het |
| Eps15 |
C |
T |
4: 109,161,964 (GRCm39) |
T31I |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,298,443 (GRCm39) |
I184V |
probably benign |
Het |
| Fbxl8 |
A |
T |
8: 105,994,856 (GRCm39) |
I123F |
probably damaging |
Het |
| Fbxw26 |
T |
G |
9: 109,561,772 (GRCm39) |
T141P |
probably damaging |
Het |
| Fhip1b |
G |
T |
7: 105,033,328 (GRCm39) |
Y629* |
probably null |
Het |
| Glra3 |
G |
A |
8: 56,515,494 (GRCm39) |
D190N |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,295,677 (GRCm39) |
L4229P |
probably damaging |
Het |
| Ipmk |
C |
T |
10: 71,199,333 (GRCm39) |
R65W |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,057,580 (GRCm39) |
I284T |
probably damaging |
Het |
| Klhl22 |
T |
C |
16: 17,610,284 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
A |
6: 112,292,851 (GRCm39) |
D234E |
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,732,026 (GRCm39) |
N209K |
probably benign |
Het |
| Mak |
A |
C |
13: 41,202,912 (GRCm39) |
S179A |
possibly damaging |
Het |
| Map3k4 |
C |
A |
17: 12,496,870 (GRCm39) |
R87L |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,683,555 (GRCm39) |
L53P |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,309,051 (GRCm39) |
|
probably null |
Het |
| Mks1 |
C |
T |
11: 87,747,494 (GRCm39) |
|
probably benign |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| N4bp2 |
C |
T |
5: 65,983,964 (GRCm39) |
P1670S |
probably damaging |
Het |
| Ncf1 |
C |
G |
5: 134,255,494 (GRCm39) |
Q132H |
probably benign |
Het |
| Nemp1 |
T |
C |
10: 127,532,203 (GRCm39) |
S370P |
possibly damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,327,020 (GRCm39) |
H92R |
probably benign |
Het |
| Or12j2 |
T |
C |
7: 139,915,850 (GRCm39) |
L25P |
probably damaging |
Het |
| Or4p19 |
G |
A |
2: 88,242,546 (GRCm39) |
A152V |
possibly damaging |
Het |
| P4ha3 |
T |
C |
7: 99,949,897 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
C |
A |
12: 81,965,067 (GRCm39) |
H411Q |
probably damaging |
Het |
| Podxl |
A |
G |
6: 31,500,051 (GRCm39) |
V473A |
possibly damaging |
Het |
| Prkd2 |
T |
C |
7: 16,590,193 (GRCm39) |
S530P |
possibly damaging |
Het |
| Scin |
A |
G |
12: 40,127,509 (GRCm39) |
I427T |
possibly damaging |
Het |
| Sgo2b |
T |
C |
8: 64,381,561 (GRCm39) |
T424A |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,818,012 (GRCm39) |
I196T |
probably benign |
Het |
| Slc47a2 |
C |
A |
11: 61,228,908 (GRCm39) |
V90L |
probably benign |
Het |
| Slc4a7 |
G |
A |
14: 14,737,386 (GRCm38) |
V99M |
probably damaging |
Het |
| Spata31f3 |
C |
T |
4: 42,874,030 (GRCm39) |
C46Y |
possibly damaging |
Het |
| Sprr2k |
T |
C |
3: 92,340,763 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,039,213 (GRCm39) |
M1185I |
probably benign |
Het |
| Tent5b |
T |
C |
4: 133,213,924 (GRCm39) |
V265A |
possibly damaging |
Het |
| Uaca |
T |
C |
9: 60,777,173 (GRCm39) |
V518A |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,808,118 (GRCm39) |
Q1200* |
probably null |
Het |
| Ufm1 |
A |
G |
3: 53,766,702 (GRCm39) |
|
probably benign |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp142 |
G |
A |
1: 74,609,778 (GRCm39) |
T1236I |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,651,234 (GRCm39) |
Y845H |
probably damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,984,641 (GRCm39) |
C154S |
possibly damaging |
Het |
| Zfp787 |
T |
C |
7: 6,135,763 (GRCm39) |
K163E |
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 |
|
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 |
|
|
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'- TGGACAACTGAACAGACCAGTG -3'
(R):5'- CGCTGTCCCTTGAAAAGTCTG -3'
Sequencing Primer
(F):5'- CAGTGAATAGATACCTAGAAACTGC -3'
(R):5'- AAGTCTGTCTCCTGGATAACATC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation