Incidental Mutation 'R4464:0610040J01Rik'
ID |
330267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
0610040J01Rik
|
Ensembl Gene |
ENSMUSG00000060512 |
Gene Name |
RIKEN cDNA 0610040J01 gene |
Synonyms |
|
MMRRC Submission |
041722-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R4464 (G1)
|
Quality Score |
186 |
Status
|
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
Acot10 |
G |
A |
15: 20,665,830 (GRCm39) |
R304* |
probably null |
Het |
Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
Asnsd1 |
C |
A |
1: 53,391,686 (GRCm39) |
|
probably null |
Het |
Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
Krt86 |
G |
A |
15: 101,371,795 (GRCm39) |
D122N |
probably damaging |
Het |
Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
Or12d17 |
C |
T |
17: 37,777,742 (GRCm39) |
S215F |
probably damaging |
Het |
Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
Psg29 |
A |
T |
7: 16,944,575 (GRCm39) |
N362Y |
possibly damaging |
Het |
Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
Rad51ap1 |
T |
C |
6: 126,911,731 (GRCm39) |
N52S |
possibly damaging |
Het |
Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
Slc34a2 |
T |
C |
5: 53,226,524 (GRCm39) |
L490P |
probably damaging |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
St3gal2 |
A |
G |
8: 111,694,134 (GRCm39) |
N207D |
probably benign |
Het |
Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
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 |
|
R4465:0610040J01Rik
|
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'- AAGCTGGGACTCACTGAATG -3'
(R):5'- TGCCCTATACAGCAAGCAGC -3'
Sequencing Primer
(F):5'- TCACTGAATGAGGCAGGGACC -3'
(R):5'- GAGTAGGCACATGCTTCTA -3'
|
Posted On |
2015-07-21 |