Incidental Mutation 'IGL03246:Ripor1'
ID |
414408 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ripor1
|
Ensembl Gene |
ENSMUSG00000038604 |
Gene Name |
RHO family interacting cell polarization regulator 1 |
Synonyms |
2310066E14Rik, Fam65a |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.553)
|
Stock # |
IGL03246
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106331887-106348851 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106342490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 187
(Y187C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043531]
[ENSMUST00000194091]
|
AlphaFold |
Q68FE6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043531
AA Change: Y187C
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000039966 Gene: ENSMUSG00000038604 AA Change: Y187C
Domain | Start | End | E-Value | Type |
Pfam:PL48
|
17 |
365 |
1.7e-170 |
PFAM |
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
low complexity region
|
399 |
413 |
N/A |
INTRINSIC |
low complexity region
|
564 |
586 |
N/A |
INTRINSIC |
low complexity region
|
595 |
655 |
N/A |
INTRINSIC |
low complexity region
|
673 |
688 |
N/A |
INTRINSIC |
low complexity region
|
748 |
771 |
N/A |
INTRINSIC |
low complexity region
|
858 |
870 |
N/A |
INTRINSIC |
Pfam:HEAT_2
|
1135 |
1209 |
3.9e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158807
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194091
|
SMART Domains |
Protein: ENSMUSP00000142044 Gene: ENSMUSG00000005705
Domain | Start | End | E-Value | Type |
Agouti
|
1 |
121 |
2.01e-56 |
SMART |
|
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 |
4921511C20Rik |
T |
A |
X: 126,303,238 (GRCm39) |
H392Q |
probably benign |
Het |
Alox8 |
T |
A |
11: 69,076,841 (GRCm39) |
I547L |
probably damaging |
Het |
Capn13 |
T |
C |
17: 73,689,855 (GRCm39) |
H52R |
probably benign |
Het |
Cfap57 |
T |
A |
4: 118,433,842 (GRCm39) |
I979L |
probably benign |
Het |
Ctdnep1 |
T |
C |
11: 69,875,156 (GRCm39) |
|
probably benign |
Het |
Ercc5 |
C |
A |
1: 44,206,241 (GRCm39) |
P385T |
probably damaging |
Het |
Fam98a |
C |
T |
17: 75,845,848 (GRCm39) |
M299I |
probably damaging |
Het |
Flcn |
A |
T |
11: 59,684,936 (GRCm39) |
I505N |
possibly damaging |
Het |
Fn1 |
G |
A |
1: 71,663,455 (GRCm39) |
T1011I |
possibly damaging |
Het |
Klhl28 |
T |
C |
12: 65,004,060 (GRCm39) |
D151G |
probably benign |
Het |
Klk13 |
T |
A |
7: 43,370,422 (GRCm39) |
N28K |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,410,420 (GRCm39) |
V396A |
probably benign |
Het |
Mageb11 |
C |
A |
X: 89,936,008 (GRCm39) |
H87Q |
probably benign |
Het |
Magi2 |
T |
A |
5: 20,563,948 (GRCm39) |
I360K |
probably damaging |
Het |
Myh7b |
T |
C |
2: 155,459,792 (GRCm39) |
I251T |
probably damaging |
Het |
Naalad2 |
A |
T |
9: 18,296,395 (GRCm39) |
I85K |
possibly damaging |
Het |
Or5ae1 |
T |
C |
7: 84,565,919 (GRCm39) |
C311R |
probably benign |
Het |
Pbrm1 |
A |
T |
14: 30,832,506 (GRCm39) |
M1490L |
probably benign |
Het |
Pclo |
C |
T |
5: 14,727,631 (GRCm39) |
|
probably benign |
Het |
Pdcd6ip |
T |
C |
9: 113,507,485 (GRCm39) |
K357R |
possibly damaging |
Het |
Pnpla6 |
C |
T |
8: 3,581,530 (GRCm39) |
T601I |
probably benign |
Het |
Pof1b |
A |
T |
X: 111,557,817 (GRCm39) |
N366K |
probably benign |
Het |
Prr9 |
A |
G |
3: 92,030,286 (GRCm39) |
|
probably benign |
Het |
Ptprz1 |
G |
T |
6: 22,986,159 (GRCm39) |
A320S |
probably damaging |
Het |
Rnf13 |
A |
G |
3: 57,676,471 (GRCm39) |
E42G |
probably damaging |
Het |
Sdf4 |
T |
C |
4: 156,085,154 (GRCm39) |
V163A |
probably benign |
Het |
Smc2 |
C |
T |
4: 52,440,301 (GRCm39) |
Q16* |
probably null |
Het |
Srsf3-ps |
T |
A |
11: 98,516,119 (GRCm39) |
R85* |
probably null |
Het |
Tbck |
T |
A |
3: 132,480,331 (GRCm39) |
C737S |
probably benign |
Het |
Tra2a |
A |
T |
6: 49,226,019 (GRCm39) |
Y140* |
probably null |
Het |
Vcpip1 |
A |
C |
1: 9,816,182 (GRCm39) |
L734V |
probably benign |
Het |
Vmn1r87 |
G |
A |
7: 12,866,288 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ripor1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00598:Ripor1
|
APN |
8 |
106,348,065 (GRCm39) |
intron |
probably benign |
|
IGL00658:Ripor1
|
APN |
8 |
106,344,749 (GRCm39) |
intron |
probably benign |
|
IGL01511:Ripor1
|
APN |
8 |
106,346,562 (GRCm39) |
intron |
probably benign |
|
IGL01733:Ripor1
|
APN |
8 |
106,342,378 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02805:Ripor1
|
APN |
8 |
106,344,203 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03049:Ripor1
|
APN |
8 |
106,342,079 (GRCm39) |
missense |
probably damaging |
0.96 |
dank
|
UTSW |
8 |
106,344,746 (GRCm39) |
intron |
probably benign |
|
Regenerative
|
UTSW |
8 |
106,348,063 (GRCm39) |
missense |
unknown |
|
riparian
|
UTSW |
8 |
106,344,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0650:Ripor1
|
UTSW |
8 |
106,344,746 (GRCm39) |
intron |
probably benign |
|
R1109:Ripor1
|
UTSW |
8 |
106,345,560 (GRCm39) |
intron |
probably benign |
|
R1480:Ripor1
|
UTSW |
8 |
106,342,180 (GRCm39) |
missense |
probably damaging |
0.96 |
R1914:Ripor1
|
UTSW |
8 |
106,343,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R1915:Ripor1
|
UTSW |
8 |
106,343,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Ripor1
|
UTSW |
8 |
106,344,340 (GRCm39) |
missense |
probably benign |
0.05 |
R2111:Ripor1
|
UTSW |
8 |
106,341,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R2513:Ripor1
|
UTSW |
8 |
106,344,254 (GRCm39) |
missense |
probably benign |
0.27 |
R4119:Ripor1
|
UTSW |
8 |
106,345,489 (GRCm39) |
intron |
probably benign |
|
R4120:Ripor1
|
UTSW |
8 |
106,345,489 (GRCm39) |
intron |
probably benign |
|
R4415:Ripor1
|
UTSW |
8 |
106,344,608 (GRCm39) |
missense |
probably benign |
0.10 |
R4668:Ripor1
|
UTSW |
8 |
106,341,284 (GRCm39) |
missense |
probably benign |
0.30 |
R4679:Ripor1
|
UTSW |
8 |
106,344,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4777:Ripor1
|
UTSW |
8 |
106,341,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R4930:Ripor1
|
UTSW |
8 |
106,343,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Ripor1
|
UTSW |
8 |
106,345,452 (GRCm39) |
frame shift |
probably null |
|
R5569:Ripor1
|
UTSW |
8 |
106,344,147 (GRCm39) |
missense |
probably damaging |
0.98 |
R5868:Ripor1
|
UTSW |
8 |
106,342,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R7187:Ripor1
|
UTSW |
8 |
106,344,506 (GRCm39) |
missense |
probably benign |
0.22 |
R7311:Ripor1
|
UTSW |
8 |
106,344,447 (GRCm39) |
nonsense |
probably null |
|
R8117:Ripor1
|
UTSW |
8 |
106,344,105 (GRCm39) |
missense |
probably damaging |
0.98 |
R8165:Ripor1
|
UTSW |
8 |
106,347,520 (GRCm39) |
missense |
unknown |
|
R9047:Ripor1
|
UTSW |
8 |
106,342,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9056:Ripor1
|
UTSW |
8 |
106,344,072 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9172:Ripor1
|
UTSW |
8 |
106,347,833 (GRCm39) |
missense |
unknown |
|
R9246:Ripor1
|
UTSW |
8 |
106,345,522 (GRCm39) |
missense |
unknown |
|
R9267:Ripor1
|
UTSW |
8 |
106,348,063 (GRCm39) |
missense |
unknown |
|
R9798:Ripor1
|
UTSW |
8 |
106,342,798 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2016-08-02 |