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 |
Incidental Mutation