Incidental Mutation 'IGL03049:Ripor1'
| ID |
408991 |
| 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 # |
IGL03049
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106331887-106348851 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106342079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 119
(D119G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043531]
[ENSMUST00000194091]
|
| AlphaFold |
Q68FE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043531
AA Change: D119G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039966
Gene: ENSMUSG00000038604
AA Change: D119G
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef19 |
A |
G |
4: 140,981,627 (GRCm39) |
H645R |
probably damaging |
Het |
| Asic5 |
A |
G |
3: 81,904,256 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,789,845 (GRCm39) |
F424L |
probably damaging |
Het |
| Clca4a |
A |
T |
3: 144,676,516 (GRCm39) |
|
probably benign |
Het |
| Eif3k |
A |
G |
7: 28,670,858 (GRCm39) |
S178P |
possibly damaging |
Het |
| Elp2 |
C |
T |
18: 24,764,516 (GRCm39) |
T621I |
probably benign |
Het |
| Exoc3l4 |
T |
C |
12: 111,389,835 (GRCm39) |
S137P |
probably damaging |
Het |
| Gm14393 |
C |
A |
2: 174,903,581 (GRCm39) |
G109C |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,049,517 (GRCm39) |
V340A |
possibly damaging |
Het |
| Hic2 |
A |
G |
16: 17,075,800 (GRCm39) |
S210G |
probably benign |
Het |
| Lcn3 |
T |
A |
2: 25,655,586 (GRCm39) |
M1K |
probably null |
Het |
| Ldlr |
A |
G |
9: 21,657,115 (GRCm39) |
E692G |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,182,414 (GRCm39) |
N587S |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 88,015,937 (GRCm39) |
F523S |
probably damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,505,060 (GRCm39) |
I1185N |
probably damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,260,934 (GRCm39) |
K519N |
probably damaging |
Het |
| Or4c103 |
C |
T |
2: 88,513,834 (GRCm39) |
V81M |
possibly damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,298 (GRCm39) |
I146F |
probably damaging |
Het |
| Or7c70 |
T |
A |
10: 78,683,356 (GRCm39) |
H131L |
possibly damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,799,663 (GRCm39) |
T705A |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,495,056 (GRCm39) |
V395A |
probably damaging |
Het |
| Slc18b1 |
T |
C |
10: 23,698,844 (GRCm39) |
V338A |
probably benign |
Het |
| Usp10 |
A |
G |
8: 120,683,366 (GRCm39) |
T746A |
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 |
|
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 |
2016-08-02 |
Incidental Mutation