Incidental Mutation 'R5708:D630003M21Rik'
| ID |
452063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D630003M21Rik
|
| Ensembl Gene |
ENSMUSG00000037813 |
| Gene Name |
RIKEN cDNA D630003M21 gene |
| Synonyms |
|
| MMRRC Submission |
043333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5708 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
158024453-158071142 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 158062312 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 null
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 null
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 |
probably null
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
A |
G |
8: 84,729,627 (GRCm39) |
K101R |
probably benign |
Het |
| 4933430I17Rik |
T |
C |
4: 62,444,106 (GRCm39) |
S18P |
probably benign |
Het |
| Adgb |
C |
T |
10: 10,267,501 (GRCm39) |
V940I |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,285,032 (GRCm39) |
A595S |
possibly damaging |
Het |
| Asxl2 |
T |
A |
12: 3,550,603 (GRCm39) |
S782T |
possibly damaging |
Het |
| C1s2 |
A |
T |
6: 124,602,702 (GRCm39) |
L503* |
probably null |
Het |
| C7 |
A |
G |
15: 5,044,883 (GRCm39) |
V385A |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,912,635 (GRCm39) |
F630L |
probably damaging |
Het |
| Cdk14 |
A |
C |
5: 5,316,036 (GRCm39) |
|
probably benign |
Het |
| Cdkl4 |
T |
C |
17: 80,846,951 (GRCm39) |
I239M |
possibly damaging |
Het |
| Cfap299 |
A |
T |
5: 98,885,566 (GRCm39) |
M158L |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,890,743 (GRCm39) |
N360S |
unknown |
Het |
| Dchs1 |
G |
A |
7: 105,422,016 (GRCm39) |
P135S |
probably damaging |
Het |
| Dpysl2 |
A |
G |
14: 67,050,595 (GRCm39) |
S421P |
probably benign |
Het |
| Edn1 |
A |
T |
13: 42,457,143 (GRCm39) |
M59L |
probably benign |
Het |
| EU599041 |
A |
G |
7: 42,875,311 (GRCm39) |
|
noncoding transcript |
Het |
| Furin |
A |
G |
7: 80,047,603 (GRCm39) |
|
probably benign |
Het |
| Gkn2 |
T |
C |
6: 87,354,418 (GRCm39) |
L94P |
probably damaging |
Het |
| Gmeb2 |
A |
T |
2: 180,906,782 (GRCm39) |
C117S |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,723,843 (GRCm39) |
I1869F |
probably benign |
Het |
| Heg1 |
A |
G |
16: 33,562,774 (GRCm39) |
E1119G |
probably damaging |
Het |
| Hmgcs2 |
T |
A |
3: 98,198,478 (GRCm39) |
L127Q |
probably damaging |
Het |
| Insyn2a |
C |
A |
7: 134,520,525 (GRCm39) |
V2F |
probably damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,911,082 (GRCm39) |
R493G |
probably benign |
Het |
| Kcnj11 |
C |
T |
7: 45,749,242 (GRCm39) |
R27H |
probably benign |
Het |
| Klra14-ps |
A |
G |
6: 130,134,751 (GRCm39) |
|
noncoding transcript |
Het |
| Lgmn |
A |
T |
12: 102,370,587 (GRCm39) |
N114K |
possibly damaging |
Het |
| Lipg |
C |
T |
18: 75,088,505 (GRCm39) |
M148I |
possibly damaging |
Het |
| Megf8 |
G |
T |
7: 25,034,022 (GRCm39) |
R607L |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,747,665 (GRCm39) |
T183A |
probably benign |
Het |
| Mllt11 |
A |
G |
3: 95,127,515 (GRCm39) |
V85A |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,692,581 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,575,515 (GRCm39) |
|
probably benign |
Het |
| Myoz3 |
T |
C |
18: 60,712,104 (GRCm39) |
Y158C |
probably damaging |
Het |
| Or11g25 |
A |
T |
14: 50,723,452 (GRCm39) |
D179V |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,391 (GRCm39) |
I135V |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,881,380 (GRCm39) |
S902R |
probably damaging |
Het |
| Rarb |
T |
C |
14: 16,548,545 (GRCm38) |
T93A |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,123,696 (GRCm39) |
D493G |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,511,583 (GRCm39) |
D606V |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,377,891 (GRCm39) |
F569L |
possibly damaging |
Het |
| Sil1 |
T |
C |
18: 35,474,170 (GRCm39) |
E149G |
probably benign |
Het |
| Spata13 |
T |
G |
14: 60,929,452 (GRCm39) |
S337A |
probably damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,622,018 (GRCm39) |
L360M |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,250,222 (GRCm39) |
C1852S |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,360 (GRCm39) |
T208A |
probably damaging |
Het |
| Tmem38b |
G |
C |
4: 53,849,051 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
A |
1: 105,741,545 (GRCm39) |
|
probably null |
Het |
| Tnik |
T |
A |
3: 28,666,120 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
A |
T |
2: 28,555,197 (GRCm39) |
|
probably benign |
Het |
| Zfp930 |
T |
C |
8: 69,679,113 (GRCm39) |
V41A |
probably benign |
Het |
| Zscan18 |
A |
T |
7: 12,508,383 (GRCm39) |
D372E |
probably benign |
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 |
|
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'- TACTGACAGGTGGCCTTTCC -3'
(R):5'- TGCCCATACTGTTACTGTAACTG -3'
Sequencing Primer
(F):5'- TTCCCTCCGATAAGCAGTGG -3'
(R):5'- GCCCTTGACATGGCCATC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation