Incidental Mutation 'R9197:Rin3'
| ID |
697998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rin3
|
| Ensembl Gene |
ENSMUSG00000044456 |
| Gene Name |
Ras and Rab interactor 3 |
| Synonyms |
|
| MMRRC Submission |
068956-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9197 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
102249307-102357114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102335306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 406
(I406F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056950]
[ENSMUST00000133820]
|
| AlphaFold |
P59729 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056950
AA Change: I406F
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000060771
Gene: ENSMUSG00000044456
AA Change: I406F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
|
SH2
|
61 |
149 |
1.89e-2 |
SMART |
|
low complexity region
|
254 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
728 |
N/A |
INTRINSIC |
|
VPS9
|
736 |
852 |
5.75e-38 |
SMART |
|
RA
|
873 |
960 |
3.5e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133820
AA Change: I326F
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000122646
Gene: ENSMUSG00000044456
AA Change: I326F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SH2
|
1 |
69 |
3e-39 |
BLAST |
|
SCOP:d1a81a2
|
3 |
77 |
2e-4 |
SMART |
|
low complexity region
|
174 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
648 |
N/A |
INTRINSIC |
|
VPS9
|
656 |
772 |
5.75e-38 |
SMART |
|
RA
|
793 |
880 |
3.5e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
| Brd2 |
T |
C |
17: 34,333,370 (GRCm39) |
Y427C |
probably damaging |
Het |
| Btbd1 |
T |
A |
7: 81,443,363 (GRCm39) |
T474S |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,590,950 (GRCm39) |
T1524A |
|
Het |
| Capn9 |
T |
A |
8: 125,340,600 (GRCm39) |
V588D |
probably damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Ccr3 |
T |
C |
9: 123,829,732 (GRCm39) |
S356P |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,280,536 (GRCm39) |
I2820F |
unknown |
Het |
| Cyfip1 |
C |
T |
7: 55,554,222 (GRCm39) |
H754Y |
probably null |
Het |
| Dolk |
A |
G |
2: 30,174,693 (GRCm39) |
S451P |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,892,682 (GRCm39) |
A829T |
probably benign |
Het |
| Fahd2a |
T |
C |
2: 127,278,284 (GRCm39) |
I308V |
possibly damaging |
Het |
| Gm7168 |
T |
A |
17: 14,169,489 (GRCm39) |
N285K |
probably benign |
Het |
| Hgf |
T |
A |
5: 16,766,059 (GRCm39) |
V65E |
probably benign |
Het |
| Igsf21 |
A |
T |
4: 139,762,084 (GRCm39) |
L198Q |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ipo4 |
C |
T |
14: 55,870,840 (GRCm39) |
R264H |
probably damaging |
Het |
| Jak2 |
C |
T |
19: 29,289,157 (GRCm39) |
T1103I |
probably benign |
Het |
| Kdm4d |
T |
A |
9: 14,375,537 (GRCm39) |
Y107F |
probably damaging |
Het |
| Lad1 |
T |
A |
1: 135,759,630 (GRCm39) |
S509T |
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,573,446 (GRCm39) |
P143Q |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,915,716 (GRCm39) |
T340A |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,831,318 (GRCm39) |
H99R |
probably benign |
Het |
| Mmp11 |
T |
A |
10: 75,763,067 (GRCm39) |
D175V |
probably damaging |
Het |
| Msh2 |
T |
A |
17: 88,026,943 (GRCm39) |
M813K |
possibly damaging |
Het |
| Mvp |
T |
C |
7: 126,588,959 (GRCm39) |
N603D |
probably damaging |
Het |
| Or5k3 |
T |
A |
16: 58,969,489 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8c18 |
G |
A |
9: 38,204,080 (GRCm39) |
V280M |
possibly damaging |
Het |
| Pcdha2 |
A |
C |
18: 37,072,879 (GRCm39) |
Y170S |
probably damaging |
Het |
| Pcdhb19 |
G |
A |
18: 37,631,354 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pcdhga2 |
A |
T |
18: 37,804,553 (GRCm39) |
D799V |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,064 (GRCm39) |
Y430C |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,818 (GRCm39) |
F575L |
probably benign |
Het |
| Rpgrip1 |
A |
T |
14: 52,382,857 (GRCm39) |
E674D |
possibly damaging |
Het |
| Snx13 |
T |
C |
12: 35,155,196 (GRCm39) |
V420A |
probably benign |
Het |
| Spata31d1c |
A |
T |
13: 65,183,690 (GRCm39) |
M411L |
probably benign |
Het |
| Spata31h1 |
C |
A |
10: 82,120,401 (GRCm39) |
C4203F |
possibly damaging |
Het |
| Tmem150a |
T |
G |
6: 72,333,722 (GRCm39) |
M28R |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,480,000 (GRCm39) |
Y233H |
probably damaging |
Het |
| Ufl1 |
A |
G |
4: 25,250,519 (GRCm39) |
I778T |
possibly damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,596 (GRCm39) |
H315Q |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,444,244 (GRCm39) |
N565K |
probably damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,312,179 (GRCm39) |
Q172* |
probably null |
Het |
| Zfp592 |
T |
A |
7: 80,674,067 (GRCm39) |
S344T |
possibly damaging |
Het |
| Zfp970 |
T |
C |
2: 177,167,878 (GRCm39) |
I484T |
probably benign |
Het |
|
| Other mutations in Rin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Rin3
|
APN |
12 |
102,339,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01521:Rin3
|
APN |
12 |
102,335,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4495001:Rin3
|
UTSW |
12 |
102,335,295 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0109:Rin3
|
UTSW |
12 |
102,279,340 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0109:Rin3
|
UTSW |
12 |
102,279,340 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0504:Rin3
|
UTSW |
12 |
102,353,823 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Rin3
|
UTSW |
12 |
102,335,834 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1499:Rin3
|
UTSW |
12 |
102,335,018 (GRCm39) |
missense |
unknown |
|
|
R1733:Rin3
|
UTSW |
12 |
102,335,589 (GRCm39) |
nonsense |
probably null |
|
|
R1743:Rin3
|
UTSW |
12 |
102,356,355 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2911:Rin3
|
UTSW |
12 |
102,339,843 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2961:Rin3
|
UTSW |
12 |
102,279,305 (GRCm39) |
nonsense |
probably null |
|
|
R3153:Rin3
|
UTSW |
12 |
102,334,800 (GRCm39) |
missense |
unknown |
|
|
R3932:Rin3
|
UTSW |
12 |
102,356,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4498:Rin3
|
UTSW |
12 |
102,335,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Rin3
|
UTSW |
12 |
102,327,642 (GRCm39) |
intron |
probably benign |
|
|
R4985:Rin3
|
UTSW |
12 |
102,334,821 (GRCm39) |
missense |
unknown |
|
|
R5300:Rin3
|
UTSW |
12 |
102,335,929 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5363:Rin3
|
UTSW |
12 |
102,292,093 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5414:Rin3
|
UTSW |
12 |
102,356,116 (GRCm39) |
nonsense |
probably null |
|
|
R5458:Rin3
|
UTSW |
12 |
102,339,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5503:Rin3
|
UTSW |
12 |
102,279,314 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5534:Rin3
|
UTSW |
12 |
102,353,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5599:Rin3
|
UTSW |
12 |
102,356,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Rin3
|
UTSW |
12 |
102,279,378 (GRCm39) |
start gained |
probably benign |
|
|
R5874:Rin3
|
UTSW |
12 |
102,356,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Rin3
|
UTSW |
12 |
102,335,584 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7250:Rin3
|
UTSW |
12 |
102,334,893 (GRCm39) |
missense |
unknown |
|
|
R7264:Rin3
|
UTSW |
12 |
102,356,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7514:Rin3
|
UTSW |
12 |
102,335,909 (GRCm39) |
nonsense |
probably null |
|
|
R7534:Rin3
|
UTSW |
12 |
102,317,200 (GRCm39) |
missense |
unknown |
|
|
R7837:Rin3
|
UTSW |
12 |
102,335,024 (GRCm39) |
missense |
unknown |
|
|
R7875:Rin3
|
UTSW |
12 |
102,335,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7983:Rin3
|
UTSW |
12 |
102,335,418 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8014:Rin3
|
UTSW |
12 |
102,327,630 (GRCm39) |
nonsense |
probably null |
|
|
R8187:Rin3
|
UTSW |
12 |
102,292,066 (GRCm39) |
missense |
unknown |
|
|
R8757:Rin3
|
UTSW |
12 |
102,339,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Rin3
|
UTSW |
12 |
102,339,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8841:Rin3
|
UTSW |
12 |
102,335,537 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8843:Rin3
|
UTSW |
12 |
102,335,857 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9050:Rin3
|
UTSW |
12 |
102,335,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9272:Rin3
|
UTSW |
12 |
102,335,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Rin3
|
UTSW |
12 |
102,335,589 (GRCm39) |
nonsense |
probably null |
|
|
R9517:Rin3
|
UTSW |
12 |
102,334,895 (GRCm39) |
missense |
unknown |
|
|
R9576:Rin3
|
UTSW |
12 |
102,335,589 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Rin3
|
UTSW |
12 |
102,292,121 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTTTGGAGAAGAAGAGATG -3'
(R):5'- GCCTGTTTCTCAGAGGATGC -3'
Sequencing Primer
(F):5'- GAGATGAAACCTGGGACAACTCC -3'
(R):5'- TCCTGTATGGGGCTCTCCAAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation