Incidental Mutation 'IGL02229:0610040J01Rik'
ID |
285435 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
0610040J01Rik
|
Ensembl Gene |
ENSMUSG00000060512 |
Gene Name |
RIKEN cDNA 0610040J01 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
IGL02229
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
63969833-64056968 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64055696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 144
(D144G)
|
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 |
probably benign
Transcript: ENSMUST00000081747
AA Change: D144G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000080443 Gene: ENSMUSG00000060512 AA Change: D144G
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
AA Change: D144G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000199667
AA Change: D144G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg1 |
G |
T |
8: 95,730,139 (GRCm39) |
D114Y |
probably damaging |
Het |
Ago4 |
T |
A |
4: 126,405,325 (GRCm39) |
N416I |
probably benign |
Het |
Aoc1 |
C |
T |
6: 48,882,843 (GRCm39) |
Q240* |
probably null |
Het |
Atl1 |
G |
A |
12: 69,972,799 (GRCm39) |
V40I |
probably benign |
Het |
Cdh2 |
T |
C |
18: 16,757,810 (GRCm39) |
I591V |
probably benign |
Het |
Cic |
C |
A |
7: 24,990,375 (GRCm39) |
Q1959K |
probably damaging |
Het |
Cmya5 |
C |
T |
13: 93,229,194 (GRCm39) |
E1965K |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,153,781 (GRCm39) |
S397P |
probably damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,059,907 (GRCm39) |
Y593H |
probably damaging |
Het |
Dck |
A |
G |
5: 88,921,964 (GRCm39) |
Y142C |
probably damaging |
Het |
Eea1 |
A |
T |
10: 95,854,046 (GRCm39) |
E568V |
probably damaging |
Het |
Gabra3 |
A |
G |
X: 71,544,683 (GRCm39) |
|
probably null |
Het |
Gucy2f |
A |
G |
X: 140,962,984 (GRCm39) |
S342P |
probably benign |
Het |
Hbb-bh1 |
T |
A |
7: 103,492,032 (GRCm39) |
I61F |
possibly damaging |
Het |
Hook1 |
T |
C |
4: 95,889,488 (GRCm39) |
S235P |
possibly damaging |
Het |
Hoxd12 |
G |
A |
2: 74,506,278 (GRCm39) |
R230H |
probably damaging |
Het |
Iglc2 |
C |
T |
16: 19,017,483 (GRCm39) |
A41T |
probably benign |
Het |
Il1r1 |
A |
G |
1: 40,352,518 (GRCm39) |
K566E |
probably damaging |
Het |
Kcns3 |
A |
T |
12: 11,142,093 (GRCm39) |
M202K |
probably damaging |
Het |
Krt7 |
C |
A |
15: 101,325,497 (GRCm39) |
A442D |
probably benign |
Het |
Ltk |
C |
T |
2: 119,589,054 (GRCm39) |
R200H |
probably benign |
Het |
Macf1 |
G |
T |
4: 123,403,619 (GRCm39) |
D582E |
probably damaging |
Het |
Mbnl3 |
A |
T |
X: 50,228,218 (GRCm39) |
Y69N |
probably damaging |
Het |
Mpp1 |
T |
C |
X: 74,165,034 (GRCm39) |
|
probably benign |
Het |
Myo18b |
A |
G |
5: 113,025,976 (GRCm39) |
S25P |
unknown |
Het |
Nsd3 |
A |
G |
8: 26,200,775 (GRCm39) |
N1289S |
probably damaging |
Het |
Or8d1 |
T |
A |
9: 38,766,712 (GRCm39) |
M118K |
possibly damaging |
Het |
Pacs2 |
A |
G |
12: 113,020,420 (GRCm39) |
|
probably benign |
Het |
Rab3gap2 |
A |
G |
1: 184,991,580 (GRCm39) |
K689E |
possibly damaging |
Het |
Sva |
T |
A |
6: 42,019,156 (GRCm39) |
C109S |
probably damaging |
Het |
Taf3 |
T |
C |
2: 9,957,645 (GRCm39) |
N174S |
probably damaging |
Het |
Tbc1d5 |
A |
T |
17: 51,159,628 (GRCm39) |
M393K |
probably damaging |
Het |
Tmem242 |
A |
T |
17: 5,461,682 (GRCm39) |
S129T |
probably benign |
Het |
Ttn |
A |
T |
2: 76,701,513 (GRCm39) |
|
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |