Incidental Mutation 'R0109:Rin3'
ID |
64218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rin3
|
Ensembl Gene |
ENSMUSG00000044456 |
Gene Name |
Ras and Rab interactor 3 |
Synonyms |
|
MMRRC Submission |
038395-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0109 (G1)
|
Quality Score |
142 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
102249307-102357114 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102279340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 50
(I50V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056950]
[ENSMUST00000101114]
[ENSMUST00000133820]
[ENSMUST00000150795]
|
AlphaFold |
P59729 |
Predicted Effect |
unknown
Transcript: ENSMUST00000056950
AA Change: I50V
|
SMART Domains |
Protein: ENSMUSP00000060771 Gene: ENSMUSG00000044456 AA Change: I50V
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: ENSMUST00000101114
AA Change: I50V
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000098673 Gene: ENSMUSG00000044456 AA Change: I50V
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
SH2
|
61 |
149 |
1.89e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133820
|
SMART Domains |
Protein: ENSMUSP00000122646 Gene: ENSMUSG00000044456
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150795
AA Change: I50V
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000123268 Gene: ENSMUSG00000044456 AA Change: I50V
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
Blast:SH2
|
61 |
122 |
1e-38 |
BLAST |
|
Meta Mutation Damage Score |
0.0658 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,917,985 (GRCm39) |
K1496* |
probably null |
Het |
Anapc1 |
C |
A |
2: 128,476,613 (GRCm39) |
R1335L |
probably damaging |
Het |
Arhgef10l |
A |
T |
4: 140,305,605 (GRCm39) |
S203T |
probably benign |
Het |
Astn1 |
C |
T |
1: 158,491,674 (GRCm39) |
T41I |
possibly damaging |
Het |
Avil |
A |
G |
10: 126,849,513 (GRCm39) |
N603S |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,421,916 (GRCm39) |
D149G |
possibly damaging |
Het |
Col19a1 |
A |
C |
1: 24,598,849 (GRCm39) |
|
probably null |
Het |
Cps1 |
T |
C |
1: 67,268,577 (GRCm39) |
V1435A |
possibly damaging |
Het |
Cyp2j6 |
A |
T |
4: 96,406,394 (GRCm39) |
I459N |
probably damaging |
Het |
Cyth1 |
T |
C |
11: 118,073,132 (GRCm39) |
E242G |
probably damaging |
Het |
Dclk3 |
T |
G |
9: 111,296,738 (GRCm39) |
L94R |
possibly damaging |
Het |
Dsg3 |
T |
C |
18: 20,673,191 (GRCm39) |
V954A |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,111,487 (GRCm39) |
D309V |
probably damaging |
Het |
Efhd2 |
A |
G |
4: 141,601,878 (GRCm39) |
F101L |
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,216 (GRCm39) |
M325K |
possibly damaging |
Het |
Fras1 |
T |
C |
5: 96,857,936 (GRCm39) |
S2077P |
probably benign |
Het |
Frmpd1 |
A |
T |
4: 45,279,340 (GRCm39) |
E688D |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,289,512 (GRCm39) |
V3824A |
probably benign |
Het |
Kctd16 |
A |
G |
18: 40,392,204 (GRCm39) |
E264G |
probably benign |
Het |
Mapk15 |
A |
T |
15: 75,867,926 (GRCm39) |
K153* |
probably null |
Het |
Miox |
G |
A |
15: 89,219,784 (GRCm39) |
V91I |
probably benign |
Het |
Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
Or4a69 |
A |
G |
2: 89,313,147 (GRCm39) |
F111L |
probably benign |
Het |
Or52d1 |
T |
C |
7: 103,755,812 (GRCm39) |
S109P |
probably damaging |
Het |
Or5b94 |
C |
A |
19: 12,652,224 (GRCm39) |
F218L |
probably benign |
Het |
Parp9 |
T |
C |
16: 35,768,711 (GRCm39) |
I64T |
probably damaging |
Het |
Pfkfb4 |
T |
C |
9: 108,827,957 (GRCm39) |
V43A |
probably benign |
Het |
Pgap1 |
A |
T |
1: 54,533,984 (GRCm39) |
V643E |
probably damaging |
Het |
Pip5k1b |
T |
A |
19: 24,356,411 (GRCm39) |
M176L |
probably benign |
Het |
Ppfia4 |
A |
T |
1: 134,251,955 (GRCm39) |
|
probably null |
Het |
Prdx2 |
G |
A |
8: 85,696,880 (GRCm39) |
G4S |
probably benign |
Het |
Rtl1 |
G |
A |
12: 109,561,841 (GRCm39) |
|
probably benign |
Het |
Sgsm3 |
G |
C |
15: 80,893,667 (GRCm39) |
D434H |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,964,314 (GRCm39) |
S634P |
possibly damaging |
Het |
Sik2 |
A |
G |
9: 50,810,775 (GRCm39) |
M447T |
possibly damaging |
Het |
Sla2 |
A |
G |
2: 156,725,507 (GRCm39) |
|
probably null |
Het |
Spata16 |
T |
A |
3: 26,967,416 (GRCm39) |
F389I |
probably damaging |
Het |
Srebf1 |
G |
A |
11: 60,092,630 (GRCm39) |
A793V |
probably benign |
Het |
Tmed11 |
T |
A |
5: 108,925,278 (GRCm39) |
D178V |
probably damaging |
Het |
Traf7 |
A |
G |
17: 24,732,900 (GRCm39) |
F110L |
probably benign |
Het |
Ttn |
T |
A |
2: 76,555,908 (GRCm39) |
I30366F |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,799,399 (GRCm39) |
V33M |
probably damaging |
Het |
Vmn1r194 |
A |
G |
13: 22,429,217 (GRCm39) |
Y278C |
probably damaging |
Het |
Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
Vmn2r114 |
A |
T |
17: 23,529,549 (GRCm39) |
Y184* |
probably null |
Het |
Vmn2r53 |
C |
T |
7: 12,315,993 (GRCm39) |
A609T |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,572,265 (GRCm39) |
T961A |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,349,622 (GRCm39) |
N3272K |
probably damaging |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp454 |
T |
A |
11: 50,774,602 (GRCm39) |
T24S |
possibly damaging |
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 |
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 |
R9197:Rin3
|
UTSW |
12 |
102,335,306 (GRCm39) |
missense |
probably benign |
0.03 |
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'- TCAGGATGGGCTGACCATTTGATTC -3'
(R):5'- GCCTAGCTCCCAAAGTCAGAGAAAG -3'
Sequencing Primer
(F):5'- GGCTGACCATTTGATTCTATGTC -3'
(R):5'- AGCTGTTTGCATGAAGGCAC -3'
|
Posted On |
2013-08-06 |