Incidental Mutation 'R4415:Ripor1'
| ID |
326793 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106331887-106348851 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106344608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 581
(S581P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043531]
[ENSMUST00000194091]
|
| AlphaFold |
Q68FE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043531
AA Change: S581P
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000039966
Gene: ENSMUSG00000038604
AA Change: S581P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
T |
11: 105,895,947 (GRCm39) |
D631V |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,395,702 (GRCm39) |
I274V |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,815,451 (GRCm39) |
D303G |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,254,874 (GRCm39) |
*233R |
probably null |
Het |
| Bcl9l |
C |
T |
9: 44,413,176 (GRCm39) |
P127S |
possibly damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,652,593 (GRCm39) |
T52A |
probably damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Colq |
T |
C |
14: 31,257,645 (GRCm39) |
K231E |
probably damaging |
Het |
| Fam32a |
T |
A |
8: 72,975,785 (GRCm39) |
I77N |
probably damaging |
Het |
| Impdh1 |
C |
T |
6: 29,209,221 (GRCm39) |
V49M |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,536,417 (GRCm39) |
I1055T |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lama2 |
G |
T |
10: 26,865,340 (GRCm39) |
Y947* |
probably null |
Het |
| Myo5b |
T |
A |
18: 74,713,479 (GRCm39) |
I108N |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,932,679 (GRCm39) |
T713A |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,223,532 (GRCm39) |
T1236A |
probably benign |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Rcl1 |
G |
A |
19: 29,095,762 (GRCm39) |
V116I |
probably benign |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rfx2 |
T |
A |
17: 57,094,733 (GRCm39) |
T204S |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,374,790 (GRCm39) |
V5084E |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,357,037 (GRCm39) |
V1077E |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,056,754 (GRCm39) |
V54A |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,348,779 (GRCm39) |
L804Q |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,214 (GRCm39) |
Q606L |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,162 (GRCm39) |
N519K |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,534,464 (GRCm39) |
N274K |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tacc3 |
T |
G |
5: 33,824,028 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,299,466 (GRCm39) |
E383K |
probably benign |
Het |
| Ube3b |
A |
T |
5: 114,550,505 (GRCm39) |
D844V |
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 |
|
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTAGACTTGGTTCACAAAAC -3'
(R):5'- AGCACCGGTGGTATGAGTTG -3'
Sequencing Primer
(F):5'- GTTCACAAAACCACAGACTCCG -3'
(R):5'- CACCGGTGGTATGAGTTGACATC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation