Incidental Mutation 'IGL02447:Ripor3'
| ID |
294026 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ripor3
|
| Ensembl Gene |
ENSMUSG00000074577 |
| Gene Name |
RIPOR family member 3 |
| Synonyms |
Fam65c, 2310033K02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02447
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
167822084-167852538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 167834750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 247
(T247N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099073]
|
| AlphaFold |
A1L3T7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099073
AA Change: T247N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: T247N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PL48
|
19 |
363 |
3.5e-169 |
PFAM |
|
low complexity region
|
414 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
602 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
794 |
909 |
6e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142702
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
T |
A |
4: 144,401,269 (GRCm39) |
I72F |
probably benign |
Het |
| Abhd18 |
T |
A |
3: 40,888,208 (GRCm39) |
F351I |
probably benign |
Het |
| Agfg1 |
T |
A |
1: 82,859,944 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
C |
T |
5: 98,178,267 (GRCm39) |
V48I |
possibly damaging |
Het |
| Bcl9l |
T |
C |
9: 44,418,631 (GRCm39) |
M823T |
probably benign |
Het |
| Card11 |
G |
A |
5: 140,892,679 (GRCm39) |
H129Y |
possibly damaging |
Het |
| Ccr1 |
A |
T |
9: 123,763,753 (GRCm39) |
V259E |
probably benign |
Het |
| Cdk13 |
G |
T |
13: 17,947,001 (GRCm39) |
P586T |
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,243,807 (GRCm39) |
V1502I |
probably damaging |
Het |
| Csnk1g3 |
T |
C |
18: 54,028,942 (GRCm39) |
S32P |
probably benign |
Het |
| Dpysl4 |
G |
A |
7: 138,678,516 (GRCm39) |
R492Q |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,127,949 (GRCm39) |
L78P |
probably damaging |
Het |
| Gm7361 |
T |
C |
5: 26,462,853 (GRCm39) |
S32P |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,855,976 (GRCm39) |
V234E |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,404,610 (GRCm39) |
I4477L |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,537,497 (GRCm39) |
|
probably null |
Het |
| Itpkb |
A |
G |
1: 180,248,919 (GRCm39) |
|
probably benign |
Het |
| Jag2 |
T |
C |
12: 112,876,232 (GRCm39) |
Y799C |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,277,014 (GRCm39) |
K857R |
probably damaging |
Het |
| Kbtbd12 |
A |
T |
6: 88,595,676 (GRCm39) |
S51R |
probably damaging |
Het |
| Kcnc2 |
T |
G |
10: 112,291,851 (GRCm39) |
D346E |
probably damaging |
Het |
| Kcnh1 |
T |
A |
1: 191,907,224 (GRCm39) |
M92K |
possibly damaging |
Het |
| Kcnk1 |
A |
G |
8: 126,751,819 (GRCm39) |
I142V |
probably damaging |
Het |
| Lsm11 |
T |
C |
11: 45,828,191 (GRCm39) |
N196D |
probably damaging |
Het |
| Mpeg1 |
G |
T |
19: 12,440,156 (GRCm39) |
C538F |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,333,951 (GRCm39) |
Q969* |
probably null |
Het |
| Nt5el |
A |
T |
13: 105,236,967 (GRCm39) |
S73C |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,204,511 (GRCm39) |
|
probably null |
Het |
| Pdcd5 |
A |
G |
7: 35,342,110 (GRCm39) |
V166A |
possibly damaging |
Het |
| Plcb2 |
A |
T |
2: 118,543,636 (GRCm39) |
I745N |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 162,120,027 (GRCm39) |
T147A |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,676,460 (GRCm39) |
D136V |
probably damaging |
Het |
| Sgcd |
A |
C |
11: 46,870,082 (GRCm39) |
|
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,734,251 (GRCm39) |
Y211H |
probably benign |
Het |
| Slc37a3 |
T |
A |
6: 39,314,129 (GRCm39) |
E494D |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,234,856 (GRCm39) |
E326G |
probably benign |
Het |
| Tctn2 |
T |
C |
5: 124,753,316 (GRCm39) |
|
noncoding transcript |
Het |
| Tk2 |
T |
A |
8: 104,967,770 (GRCm39) |
N93I |
probably damaging |
Het |
| Tmed6 |
A |
G |
8: 107,792,240 (GRCm39) |
F2L |
possibly damaging |
Het |
| Tox3 |
A |
G |
8: 90,984,781 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,941,401 (GRCm39) |
Y237C |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,797,856 (GRCm39) |
L547P |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,189,223 (GRCm39) |
D1421G |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,542,703 (GRCm39) |
I319K |
possibly damaging |
Het |
| Vac14 |
A |
G |
8: 111,380,260 (GRCm39) |
D441G |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,316 (GRCm39) |
V5M |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,012,429 (GRCm39) |
H560Q |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp773 |
G |
T |
7: 7,139,655 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ripor3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:Ripor3
|
APN |
2 |
167,835,495 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01621:Ripor3
|
APN |
2 |
167,839,172 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01819:Ripor3
|
APN |
2 |
167,822,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01891:Ripor3
|
APN |
2 |
167,825,071 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02110:Ripor3
|
APN |
2 |
167,836,626 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02270:Ripor3
|
APN |
2 |
167,835,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02403:Ripor3
|
APN |
2 |
167,831,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02445:Ripor3
|
APN |
2 |
167,834,682 (GRCm39) |
splice site |
probably benign |
|
|
IGL02711:Ripor3
|
APN |
2 |
167,848,200 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03187:Ripor3
|
APN |
2 |
167,827,588 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03304:Ripor3
|
APN |
2 |
167,822,848 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Ripor3
|
UTSW |
2 |
167,826,358 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Ripor3
|
UTSW |
2 |
167,826,358 (GRCm39) |
splice site |
probably benign |
|
|
R0233:Ripor3
|
UTSW |
2 |
167,834,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Ripor3
|
UTSW |
2 |
167,834,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Ripor3
|
UTSW |
2 |
167,825,692 (GRCm39) |
nonsense |
probably null |
|
|
R1457:Ripor3
|
UTSW |
2 |
167,834,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Ripor3
|
UTSW |
2 |
167,842,297 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1619:Ripor3
|
UTSW |
2 |
167,822,765 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2358:Ripor3
|
UTSW |
2 |
167,825,785 (GRCm39) |
splice site |
probably benign |
|
|
R2431:Ripor3
|
UTSW |
2 |
167,831,715 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2943:Ripor3
|
UTSW |
2 |
167,825,681 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3000:Ripor3
|
UTSW |
2 |
167,833,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3730:Ripor3
|
UTSW |
2 |
167,834,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3731:Ripor3
|
UTSW |
2 |
167,834,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Ripor3
|
UTSW |
2 |
167,826,386 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4796:Ripor3
|
UTSW |
2 |
167,823,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4854:Ripor3
|
UTSW |
2 |
167,834,733 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4934:Ripor3
|
UTSW |
2 |
167,824,736 (GRCm39) |
missense |
probably benign |
|
|
R4968:Ripor3
|
UTSW |
2 |
167,827,037 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5662:Ripor3
|
UTSW |
2 |
167,835,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5739:Ripor3
|
UTSW |
2 |
167,823,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Ripor3
|
UTSW |
2 |
167,839,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6844:Ripor3
|
UTSW |
2 |
167,835,253 (GRCm39) |
splice site |
probably null |
|
|
R6969:Ripor3
|
UTSW |
2 |
167,827,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6994:Ripor3
|
UTSW |
2 |
167,839,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7609:Ripor3
|
UTSW |
2 |
167,826,490 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7818:Ripor3
|
UTSW |
2 |
167,831,346 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8175:Ripor3
|
UTSW |
2 |
167,825,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8329:Ripor3
|
UTSW |
2 |
167,825,119 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9120:Ripor3
|
UTSW |
2 |
167,822,835 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9130:Ripor3
|
UTSW |
2 |
167,823,267 (GRCm39) |
nonsense |
probably null |
|
|
R9408:Ripor3
|
UTSW |
2 |
167,831,238 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9550:Ripor3
|
UTSW |
2 |
167,822,807 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9660:Ripor3
|
UTSW |
2 |
167,831,646 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation