Incidental Mutation 'R0637:D630003M21Rik'
| ID |
56729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D630003M21Rik
|
| Ensembl Gene |
ENSMUSG00000037813 |
| Gene Name |
RIKEN cDNA D630003M21 gene |
| Synonyms |
|
| MMRRC Submission |
038826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R0637 (G1)
|
| Quality Score |
117 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
158024453-158071142 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 158037327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
| 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 |
noncoding transcript
Transcript: ENSMUST00000109506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169335
|
| SMART Domains |
Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 94.9%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
C |
T |
9: 53,498,831 (GRCm39) |
D285N |
probably damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,106,304 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,600,015 (GRCm39) |
T2083A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,890,241 (GRCm39) |
M143I |
possibly damaging |
Het |
| Aup1 |
T |
A |
6: 83,033,842 (GRCm39) |
V344D |
probably damaging |
Het |
| Baiap2 |
G |
A |
11: 119,891,405 (GRCm39) |
V511M |
probably benign |
Het |
| Bnip2 |
T |
A |
9: 69,910,955 (GRCm39) |
|
probably null |
Het |
| Cacna1i |
A |
T |
15: 80,256,855 (GRCm39) |
Y1083F |
probably damaging |
Het |
| Cbr4 |
T |
C |
8: 61,943,740 (GRCm39) |
|
probably benign |
Het |
| Ces2b |
C |
T |
8: 105,561,237 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,962,550 (GRCm39) |
N769S |
possibly damaging |
Het |
| Clca3b |
A |
T |
3: 144,533,701 (GRCm39) |
V558D |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,017 (GRCm39) |
D1736G |
probably benign |
Het |
| Cpne8 |
C |
A |
15: 90,532,824 (GRCm39) |
C61F |
probably damaging |
Het |
| Cxcr1 |
A |
G |
1: 74,231,998 (GRCm39) |
I8T |
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,890,763 (GRCm39) |
D99E |
probably damaging |
Het |
| Fbf1 |
C |
T |
11: 116,050,880 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
A |
7: 129,773,354 (GRCm39) |
H570L |
possibly damaging |
Het |
| Gars1 |
G |
A |
6: 55,046,472 (GRCm39) |
|
probably null |
Het |
| Gm10309 |
A |
G |
17: 86,806,463 (GRCm39) |
|
probably benign |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9892 |
G |
A |
8: 52,649,860 (GRCm39) |
Q78* |
probably null |
Het |
| Has1 |
A |
G |
17: 18,064,125 (GRCm39) |
Y505H |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 119,989,738 (GRCm39) |
L2063* |
probably null |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
T |
C |
11: 104,549,702 (GRCm39) |
V614A |
probably benign |
Het |
| Lrrc23 |
A |
G |
6: 124,755,321 (GRCm39) |
|
probably benign |
Het |
| Lrrc63 |
A |
T |
14: 75,335,660 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,057,180 (GRCm39) |
R357* |
probably null |
Het |
| Mink1 |
C |
A |
11: 70,492,502 (GRCm39) |
N123K |
probably damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,501,890 (GRCm39) |
H591R |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,606,058 (GRCm39) |
T923A |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,844,666 (GRCm39) |
T554A |
probably damaging |
Het |
| Nfe2l1 |
T |
C |
11: 96,718,514 (GRCm39) |
Y7C |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,942,470 (GRCm39) |
M4904K |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,973,602 (GRCm39) |
L1910I |
probably damaging |
Het |
| Or8b41 |
T |
C |
9: 38,055,178 (GRCm39) |
F244S |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,619 (GRCm39) |
V617E |
probably damaging |
Het |
| Pelp1 |
T |
C |
11: 70,286,530 (GRCm39) |
T533A |
possibly damaging |
Het |
| Pgrmc1 |
T |
C |
X: 35,865,924 (GRCm39) |
F160S |
probably damaging |
Het |
| Pink1 |
G |
T |
4: 138,045,357 (GRCm39) |
P239Q |
probably damaging |
Het |
| Pramel25 |
A |
T |
4: 143,520,479 (GRCm39) |
Y77F |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,999,005 (GRCm39) |
|
probably benign |
Het |
| Rbpms |
G |
A |
8: 34,296,864 (GRCm39) |
P138S |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,445,055 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
C |
4: 62,564,910 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
C |
T |
16: 72,798,839 (GRCm39) |
T933M |
probably benign |
Het |
| Sinhcaf |
A |
G |
6: 148,832,163 (GRCm39) |
|
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,028,398 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,689,560 (GRCm39) |
Y2009C |
probably damaging |
Het |
| Tnr |
A |
C |
1: 159,677,905 (GRCm39) |
T97P |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,620,542 (GRCm39) |
L1320* |
probably null |
Het |
| Topaz1 |
A |
G |
9: 122,626,727 (GRCm39) |
M1452V |
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,219,509 (GRCm39) |
F2082C |
probably damaging |
Het |
| Trim24 |
C |
A |
6: 37,935,494 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
T |
A |
11: 87,668,066 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,126,926 (GRCm39) |
L483P |
probably damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,033,999 (GRCm39) |
T508S |
probably benign |
Het |
| Vps18 |
C |
T |
2: 119,124,386 (GRCm39) |
R438C |
probably damaging |
Het |
| Zfp366 |
C |
A |
13: 99,365,474 (GRCm39) |
R212S |
probably damaging |
Het |
| Zkscan4 |
T |
A |
13: 21,665,477 (GRCm39) |
C122S |
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 |
|
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 |
|
|
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'- TGGATCGCAAGGACAAGATTTGGTG -3'
(R):5'- GGCTCCAGAAAGCTCCAAGACAATG -3'
Sequencing Primer
(F):5'- ACAAGATTTGGTGTGGTTCTTTGAG -3'
(R):5'- gattaacagaccctaaaacaaggac -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation