Incidental Mutation 'IGL01733:Ripor1'
ID |
105573 |
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 # |
IGL01733
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106331887-106348851 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 106342378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 150
(R150W)
|
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: R150W
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000039966 Gene: ENSMUSG00000038604 AA Change: R150W
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
C |
T |
15: 91,075,817 (GRCm39) |
|
probably benign |
Het |
Aco1 |
T |
G |
4: 40,175,738 (GRCm39) |
|
probably benign |
Het |
Brinp3 |
T |
C |
1: 146,390,541 (GRCm39) |
V29A |
probably benign |
Het |
Brsk1 |
T |
C |
7: 4,709,071 (GRCm39) |
Y361H |
probably damaging |
Het |
Ccdc178 |
G |
T |
18: 22,157,869 (GRCm39) |
|
probably benign |
Het |
Ces1f |
A |
G |
8: 93,996,642 (GRCm39) |
I217T |
probably damaging |
Het |
Col6a6 |
T |
A |
9: 105,586,454 (GRCm39) |
T1856S |
possibly damaging |
Het |
Cuedc2 |
C |
A |
19: 46,321,112 (GRCm39) |
V7F |
probably damaging |
Het |
Cyp2d34 |
C |
T |
15: 82,502,861 (GRCm39) |
V122M |
possibly damaging |
Het |
Ddx60 |
T |
C |
8: 62,436,899 (GRCm39) |
S949P |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,220,517 (GRCm39) |
R554W |
probably damaging |
Het |
Fig4 |
A |
T |
10: 41,153,389 (GRCm39) |
N137K |
possibly damaging |
Het |
Gpr155 |
C |
T |
2: 73,183,956 (GRCm39) |
|
probably null |
Het |
Grk6 |
A |
C |
13: 55,599,204 (GRCm39) |
N168T |
possibly damaging |
Het |
Hfe |
T |
G |
13: 23,890,848 (GRCm39) |
K97T |
possibly damaging |
Het |
Hsd3b2 |
C |
T |
3: 98,623,801 (GRCm39) |
E26K |
probably damaging |
Het |
Impg1 |
A |
G |
9: 80,249,206 (GRCm39) |
S666P |
probably damaging |
Het |
Itpkb |
T |
G |
1: 180,160,734 (GRCm39) |
S287A |
possibly damaging |
Het |
Kcnh5 |
T |
C |
12: 75,011,966 (GRCm39) |
D651G |
probably benign |
Het |
Lemd3 |
C |
T |
10: 120,769,568 (GRCm39) |
W588* |
probably null |
Het |
Lepr |
A |
G |
4: 101,622,279 (GRCm39) |
T404A |
probably benign |
Het |
Metap1d |
A |
G |
2: 71,341,777 (GRCm39) |
I124V |
probably damaging |
Het |
Mrpl33 |
T |
C |
5: 31,779,733 (GRCm39) |
V54A |
probably benign |
Het |
Mybl1 |
A |
T |
1: 9,755,935 (GRCm39) |
S205T |
possibly damaging |
Het |
Mybpc2 |
T |
A |
7: 44,155,622 (GRCm39) |
D877V |
probably benign |
Het |
Nxph2 |
T |
C |
2: 23,290,137 (GRCm39) |
V163A |
probably benign |
Het |
Pakap |
G |
T |
4: 57,856,488 (GRCm39) |
V606L |
probably benign |
Het |
Pex16 |
C |
T |
2: 92,209,173 (GRCm39) |
P192S |
probably damaging |
Het |
Ptprq |
C |
A |
10: 107,498,460 (GRCm39) |
M872I |
probably benign |
Het |
Spns2 |
A |
T |
11: 72,347,336 (GRCm39) |
V423E |
possibly damaging |
Het |
St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
Stoml3 |
A |
G |
3: 53,405,548 (GRCm39) |
I50V |
probably benign |
Het |
Taar8c |
A |
G |
10: 23,977,155 (GRCm39) |
I219T |
possibly damaging |
Het |
Ubap2 |
A |
C |
4: 41,195,862 (GRCm39) |
|
probably benign |
Het |
Zfat |
T |
C |
15: 68,052,579 (GRCm39) |
D398G |
probably damaging |
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 |
|
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 |
IGL03246:Ripor1
|
APN |
8 |
106,342,490 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
2014-01-21 |