Incidental Mutation 'R4514:D630003M21Rik'
| ID |
332778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D630003M21Rik
|
| Ensembl Gene |
ENSMUSG00000037813 |
| Gene Name |
RIKEN cDNA D630003M21 gene |
| Synonyms |
|
| MMRRC Submission |
041588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4514 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
158024453-158071142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 158046722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 752
(T752A)
|
| 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: T752A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: T752A
| 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: T752A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: T752A
| 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: T752A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: T752A
| 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 |
0.0607 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
G |
8: 25,308,152 (GRCm39) |
T51P |
probably damaging |
Het |
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 112,006,745 (GRCm39) |
T155S |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,404,339 (GRCm39) |
Q1334L |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,968,518 (GRCm39) |
T1055M |
probably damaging |
Het |
| Cd3g |
C |
A |
9: 44,884,882 (GRCm39) |
A121S |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,378,046 (GRCm39) |
I618T |
probably benign |
Het |
| Cp |
A |
G |
3: 20,042,177 (GRCm39) |
M982V |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,933,653 (GRCm39) |
S611T |
possibly damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,997 (GRCm39) |
T168A |
unknown |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Defb34 |
A |
T |
8: 19,176,522 (GRCm39) |
D71V |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,623,573 (GRCm39) |
D3615E |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,666,709 (GRCm39) |
T167S |
probably damaging |
Het |
| F5 |
T |
A |
1: 163,979,566 (GRCm39) |
|
probably benign |
Het |
| Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,335,265 (GRCm39) |
T559A |
possibly damaging |
Het |
| Ifit1 |
A |
T |
19: 34,625,913 (GRCm39) |
R350* |
probably null |
Het |
| Ighv2-5 |
T |
C |
12: 113,649,216 (GRCm39) |
N79S |
possibly damaging |
Het |
| Igkv17-127 |
A |
G |
6: 67,838,498 (GRCm39) |
I70V |
possibly damaging |
Het |
| Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,490,202 (GRCm39) |
T235A |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,251 (GRCm39) |
I1081V |
probably benign |
Het |
| Lrrc8b |
G |
T |
5: 105,627,819 (GRCm39) |
C55F |
probably damaging |
Het |
| Lrwd1 |
T |
C |
5: 136,160,402 (GRCm39) |
T311A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,763,496 (GRCm39) |
I200T |
probably damaging |
Het |
| Mocos |
T |
A |
18: 24,816,269 (GRCm39) |
S615R |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,146,395 (GRCm39) |
V1456A |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,648,200 (GRCm39) |
I1759V |
probably benign |
Het |
| Nat8f5 |
G |
A |
6: 85,794,405 (GRCm39) |
T185I |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,529,943 (GRCm39) |
I2133V |
possibly damaging |
Het |
| Ncam2 |
T |
A |
16: 81,309,884 (GRCm39) |
M458K |
probably benign |
Het |
| Nphp1 |
T |
C |
2: 127,590,007 (GRCm39) |
S532G |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,182,155 (GRCm39) |
L1035P |
probably damaging |
Het |
| Or4p22 |
T |
C |
2: 88,317,709 (GRCm39) |
V211A |
probably benign |
Het |
| Or52h2 |
C |
T |
7: 103,838,598 (GRCm39) |
R272H |
probably benign |
Het |
| Pask |
T |
A |
1: 93,249,855 (GRCm39) |
Q515L |
probably benign |
Het |
| Poglut1 |
A |
T |
16: 38,369,778 (GRCm39) |
F35I |
probably benign |
Het |
| Ppp1ca |
T |
G |
19: 4,245,054 (GRCm39) |
I319S |
probably benign |
Het |
| Psg25 |
T |
A |
7: 18,263,533 (GRCm39) |
R97* |
probably null |
Het |
| Sars2 |
T |
C |
7: 28,441,709 (GRCm39) |
|
probably null |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,924,992 (GRCm39) |
F292L |
probably benign |
Het |
| Tmco5 |
T |
A |
2: 116,710,795 (GRCm39) |
D38E |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
| Uncx |
A |
G |
5: 139,532,522 (GRCm39) |
I196V |
possibly damaging |
Het |
| Zeb1 |
G |
A |
18: 5,759,007 (GRCm39) |
C138Y |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,610,977 (GRCm39) |
I662T |
possibly damaging |
Het |
| Zfp985 |
G |
A |
4: 147,668,020 (GRCm39) |
C296Y |
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 |
|
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'- GGTAAGAAGGTGGCTTCCCTAG -3'
(R):5'- GTTACCATGGTGATAGGAGGGC -3'
Sequencing Primer
(F):5'- CACTCCTGAACTGTAACTGGGAATG -3'
(R):5'- AGGGCCGTAGCTTCAGATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation