Incidental Mutation 'IGL01819:Ripor3'
| ID |
154459 |
| 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 # |
IGL01819
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
167822084-167852538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 167822763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 933
(V933F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029053]
[ENSMUST00000099073]
|
| AlphaFold |
A1L3T7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029053
|
| SMART Domains |
Protein: ENSMUSP00000029053
Gene: ENSMUSG00000027540
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
15 |
279 |
1.35e-123 |
SMART |
|
low complexity region
|
301 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
|
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099073
AA Change: V933F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: V933F
| 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: ENSMUST00000126839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131572
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2b |
A |
G |
11: 62,156,010 (GRCm39) |
N153S |
possibly damaging |
Het |
| Afm |
C |
T |
5: 90,672,765 (GRCm39) |
T200I |
probably benign |
Het |
| Cyp2c67 |
T |
C |
19: 39,604,165 (GRCm39) |
D397G |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,998,952 (GRCm39) |
V1032A |
probably benign |
Het |
| Elovl7 |
T |
G |
13: 108,410,854 (GRCm39) |
V143G |
probably damaging |
Het |
| Fhl4 |
T |
C |
10: 84,934,734 (GRCm39) |
K16E |
probably damaging |
Het |
| Golga1 |
C |
T |
2: 38,924,161 (GRCm39) |
C383Y |
probably benign |
Het |
| Gucy1a2 |
C |
T |
9: 3,865,409 (GRCm39) |
R628* |
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,466,481 (GRCm39) |
D2432G |
possibly damaging |
Het |
| Iqcf5 |
T |
A |
9: 106,393,189 (GRCm39) |
*149R |
probably null |
Het |
| Kcnab1 |
T |
A |
3: 65,226,875 (GRCm39) |
Y185N |
probably damaging |
Het |
| Lars1 |
G |
T |
18: 42,335,615 (GRCm39) |
T1167K |
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,739,715 (GRCm39) |
|
probably null |
Het |
| Mrps2 |
T |
C |
2: 28,358,348 (GRCm39) |
V46A |
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,025,916 (GRCm39) |
T45A |
unknown |
Het |
| Myo1e |
C |
T |
9: 70,250,322 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,405,823 (GRCm39) |
I132V |
probably damaging |
Het |
| Or4k39 |
T |
A |
2: 111,239,078 (GRCm39) |
V106E |
probably damaging |
Het |
| Osbp2 |
A |
T |
11: 3,667,127 (GRCm39) |
I8N |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,974 (GRCm39) |
N481Y |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,263 (GRCm39) |
W765R |
probably damaging |
Het |
| Phf11c |
T |
C |
14: 59,630,586 (GRCm39) |
T40A |
probably benign |
Het |
| Pih1d2 |
T |
A |
9: 50,533,177 (GRCm39) |
S268R |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,724,913 (GRCm39) |
N2333D |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,463,165 (GRCm39) |
I62T |
probably damaging |
Het |
| Ptcd2 |
T |
C |
13: 99,463,219 (GRCm39) |
N245S |
possibly damaging |
Het |
| Sanbr |
A |
G |
11: 23,534,561 (GRCm39) |
S105P |
probably benign |
Het |
| Sphk2 |
A |
G |
7: 45,360,480 (GRCm39) |
|
probably null |
Het |
| Tfcp2 |
T |
G |
15: 100,402,320 (GRCm39) |
E492D |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,629,106 (GRCm39) |
V14411I |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,628,549 (GRCm39) |
Q915R |
probably damaging |
Het |
| Vmn2r45 |
C |
A |
7: 8,488,556 (GRCm39) |
S158I |
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 |
|
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 |
|
|
IGL02447:Ripor3
|
APN |
2 |
167,834,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-02-04 |
Incidental Mutation