Incidental Mutation 'R4465:0610040J01Rik'
ID |
330300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
0610040J01Rik
|
Ensembl Gene |
ENSMUSG00000060512 |
Gene Name |
RIKEN cDNA 0610040J01 gene |
Synonyms |
|
MMRRC Submission |
041580-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R4465 (G1)
|
Quality Score |
137 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
63969833-64056968 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to T
at 64056182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081747]
[ENSMUST00000196367]
[ENSMUST00000196575]
[ENSMUST00000199667]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000081747
AA Change: G306V
|
SMART Domains |
Protein: ENSMUSP00000080443 Gene: ENSMUSG00000060512 AA Change: G306V
Domain | Start | End | E-Value | Type |
Pfam:DUF4699
|
9 |
313 |
2.5e-123 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196367
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196575
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199667
|
Meta Mutation Damage Score |
0.1690 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg2 |
A |
G |
17: 57,168,580 (GRCm39) |
Y180H |
probably damaging |
Het |
Adgrb3 |
G |
T |
1: 25,133,447 (GRCm39) |
T1213K |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,802,388 (GRCm39) |
T510A |
probably benign |
Het |
Clasp1 |
C |
A |
1: 118,488,808 (GRCm39) |
T857N |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Col12a1 |
C |
A |
9: 79,580,192 (GRCm39) |
V1562F |
possibly damaging |
Het |
Cyp4f40 |
T |
A |
17: 32,890,186 (GRCm39) |
D285E |
probably benign |
Het |
Dis3 |
G |
A |
14: 99,321,550 (GRCm39) |
S599L |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,951,186 (GRCm39) |
T3041A |
probably benign |
Het |
Erbin |
T |
C |
13: 103,981,393 (GRCm39) |
N511D |
probably benign |
Het |
F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
Gm11541 |
A |
T |
11: 94,595,048 (GRCm39) |
C7S |
unknown |
Het |
Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
Lao1 |
C |
A |
4: 118,822,504 (GRCm39) |
S141R |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,632,023 (GRCm39) |
K1316E |
probably damaging |
Het |
Map3k6 |
A |
G |
4: 132,973,644 (GRCm39) |
Y445C |
possibly damaging |
Het |
Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
Ndnf |
T |
A |
6: 65,681,180 (GRCm39) |
D486E |
probably benign |
Het |
Or2a54 |
T |
C |
6: 43,092,852 (GRCm39) |
Y59H |
probably damaging |
Het |
Or8h7 |
A |
T |
2: 86,721,494 (GRCm39) |
N8K |
probably benign |
Het |
Or8k37 |
A |
T |
2: 86,469,478 (GRCm39) |
N191K |
probably benign |
Het |
Rab19 |
T |
C |
6: 39,365,060 (GRCm39) |
S107P |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,140,088 (GRCm39) |
L439* |
probably null |
Het |
Slc5a1 |
A |
G |
5: 33,303,860 (GRCm39) |
E225G |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
Snx25 |
A |
G |
8: 46,521,266 (GRCm39) |
S373P |
possibly damaging |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Homo |
Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Zdhhc22 |
G |
A |
12: 87,034,997 (GRCm39) |
L152F |
probably benign |
Het |
Zfpm2 |
T |
G |
15: 40,959,557 (GRCm39) |
M80R |
probably benign |
Het |
|
Other mutations in 0610040J01Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01621:0610040J01Rik
|
APN |
5 |
64,055,726 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02229:0610040J01Rik
|
APN |
5 |
64,055,696 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02389:0610040J01Rik
|
APN |
5 |
64,053,826 (GRCm39) |
missense |
probably null |
1.00 |
IGL02411:0610040J01Rik
|
APN |
5 |
64,055,459 (GRCm39) |
missense |
probably benign |
0.31 |
R0243:0610040J01Rik
|
UTSW |
5 |
64,055,806 (GRCm39) |
missense |
probably benign |
0.10 |
R0411:0610040J01Rik
|
UTSW |
5 |
64,053,834 (GRCm39) |
splice site |
probably benign |
|
R1978:0610040J01Rik
|
UTSW |
5 |
64,055,880 (GRCm39) |
nonsense |
probably null |
|
R2072:0610040J01Rik
|
UTSW |
5 |
64,056,080 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2202:0610040J01Rik
|
UTSW |
5 |
64,056,011 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3161:0610040J01Rik
|
UTSW |
5 |
64,053,833 (GRCm39) |
splice site |
probably benign |
|
R3162:0610040J01Rik
|
UTSW |
5 |
64,053,833 (GRCm39) |
splice site |
probably benign |
|
R4428:0610040J01Rik
|
UTSW |
5 |
64,056,182 (GRCm39) |
unclassified |
probably benign |
|
R4429:0610040J01Rik
|
UTSW |
5 |
64,056,182 (GRCm39) |
unclassified |
probably benign |
|
R4430:0610040J01Rik
|
UTSW |
5 |
64,056,182 (GRCm39) |
unclassified |
probably benign |
|
R4431:0610040J01Rik
|
UTSW |
5 |
64,056,182 (GRCm39) |
unclassified |
probably benign |
|
R4464:0610040J01Rik
|
UTSW |
5 |
64,056,182 (GRCm39) |
unclassified |
probably benign |
|
R4467:0610040J01Rik
|
UTSW |
5 |
64,056,182 (GRCm39) |
unclassified |
probably benign |
|
R4491:0610040J01Rik
|
UTSW |
5 |
64,055,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R5161:0610040J01Rik
|
UTSW |
5 |
64,055,344 (GRCm39) |
nonsense |
probably null |
|
R6115:0610040J01Rik
|
UTSW |
5 |
64,055,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:0610040J01Rik
|
UTSW |
5 |
64,055,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R7445:0610040J01Rik
|
UTSW |
5 |
64,055,962 (GRCm39) |
missense |
probably damaging |
0.99 |
R7593:0610040J01Rik
|
UTSW |
5 |
64,055,774 (GRCm39) |
missense |
probably damaging |
0.97 |
R8070:0610040J01Rik
|
UTSW |
5 |
64,055,510 (GRCm39) |
missense |
probably benign |
0.01 |
R8140:0610040J01Rik
|
UTSW |
5 |
64,055,954 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8165:0610040J01Rik
|
UTSW |
5 |
64,055,289 (GRCm39) |
splice site |
probably null |
|
R8557:0610040J01Rik
|
UTSW |
5 |
64,055,954 (GRCm39) |
missense |
probably benign |
0.04 |
R9671:0610040J01Rik
|
UTSW |
5 |
64,055,948 (GRCm39) |
nonsense |
probably null |
|
R9782:0610040J01Rik
|
UTSW |
5 |
64,053,796 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGCTGGGACTCACTGAATG -3'
(R):5'- TGCCCTATACAGCAAGCAGC -3'
Sequencing Primer
(F):5'- TCACTGAATGAGGCAGGGACC -3'
(R):5'- GAGTAGGCACATGCTTCTA -3'
|
Posted On |
2015-07-21 |