Incidental Mutation 'R4985:Rin3'
| ID |
385846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rin3
|
| Ensembl Gene |
ENSMUSG00000044456 |
| Gene Name |
Ras and Rab interactor 3 |
| Synonyms |
|
| MMRRC Submission |
042579-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4985 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
102249307-102357114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102334821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 164
(D164V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056950]
[ENSMUST00000133820]
|
| AlphaFold |
P59729 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000056950
AA Change: D244V
|
| SMART Domains |
Protein: ENSMUSP00000060771
Gene: ENSMUSG00000044456
AA Change: D244V
| 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 |
noncoding transcript
Transcript: ENSMUST00000131076
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133820
AA Change: D164V
|
| SMART Domains |
Protein: ENSMUSP00000122646
Gene: ENSMUSG00000044456
AA Change: D164V
| 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 |
0.0975 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (52/52) |
| 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 |
|---|
| 4921508M14Rik |
A |
T |
12: 34,924,457 (GRCm39) |
|
probably benign |
Het |
| Actn4 |
A |
G |
7: 28,618,411 (GRCm39) |
L83P |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,276,376 (GRCm39) |
R331G |
possibly damaging |
Het |
| Bmal1 |
T |
C |
7: 112,884,280 (GRCm39) |
V106A |
probably damaging |
Het |
| Brf1 |
G |
T |
12: 112,932,990 (GRCm39) |
|
probably null |
Het |
| Cd248 |
C |
T |
19: 5,119,820 (GRCm39) |
T556I |
probably damaging |
Het |
| Cdkn2aip |
G |
T |
8: 48,166,480 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,901,772 (GRCm39) |
E399G |
possibly damaging |
Het |
| Col9a3 |
G |
A |
2: 180,245,193 (GRCm39) |
R134H |
unknown |
Het |
| Ddb2 |
T |
C |
2: 91,042,643 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
A |
G |
16: 31,606,953 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
T |
G |
14: 31,008,855 (GRCm39) |
E1973A |
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,691,017 (GRCm39) |
T284A |
probably benign |
Het |
| Ecm1 |
C |
T |
3: 95,643,415 (GRCm39) |
R295H |
possibly damaging |
Het |
| Efcab5 |
T |
A |
11: 77,029,055 (GRCm39) |
H92L |
probably damaging |
Het |
| Egfr |
C |
A |
11: 16,809,029 (GRCm39) |
Y74* |
probably null |
Het |
| Fbxo10 |
T |
C |
4: 45,040,692 (GRCm39) |
I838V |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,454,643 (GRCm39) |
R79Q |
probably damaging |
Het |
| Gm11568 |
C |
A |
11: 99,749,274 (GRCm39) |
P160T |
unknown |
Het |
| Gm29106 |
A |
T |
1: 118,126,950 (GRCm39) |
D214V |
probably benign |
Het |
| Htr3b |
C |
A |
9: 48,847,241 (GRCm39) |
V425F |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,375,146 (GRCm39) |
E347V |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,012,551 (GRCm39) |
I708V |
probably benign |
Het |
| Ldb2 |
T |
A |
5: 44,637,645 (GRCm39) |
K221I |
probably damaging |
Het |
| Lmntd2 |
A |
C |
7: 140,793,190 (GRCm39) |
S127R |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,234,743 (GRCm39) |
|
probably null |
Het |
| Mettl26 |
T |
A |
17: 26,095,750 (GRCm39) |
*202R |
probably null |
Het |
| Mmp24 |
A |
G |
2: 155,656,016 (GRCm39) |
K485E |
probably damaging |
Het |
| Nap1l1 |
T |
C |
10: 111,325,944 (GRCm39) |
C88R |
probably benign |
Het |
| Or2d2 |
C |
A |
7: 106,728,234 (GRCm39) |
R122L |
probably damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,658 (GRCm39) |
I47N |
possibly damaging |
Het |
| Pafah1b1 |
T |
G |
11: 74,576,814 (GRCm39) |
D159A |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,698 (GRCm39) |
V235A |
probably benign |
Het |
| Pcf11 |
T |
C |
7: 92,311,110 (GRCm39) |
T293A |
probably benign |
Het |
| Pidd1 |
A |
C |
7: 141,018,504 (GRCm39) |
*916E |
probably null |
Het |
| Pip4k2c |
T |
C |
10: 127,035,244 (GRCm39) |
I375V |
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,588 (GRCm39) |
S182T |
probably benign |
Het |
| Rnf8 |
T |
C |
17: 29,845,834 (GRCm39) |
S199P |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,195 (GRCm39) |
S185P |
probably benign |
Het |
| Slc47a2 |
C |
A |
11: 61,193,059 (GRCm39) |
V565L |
probably benign |
Het |
| Slfn4 |
T |
A |
11: 83,078,033 (GRCm39) |
F274I |
probably damaging |
Het |
| Tgif1 |
T |
C |
17: 71,151,867 (GRCm39) |
Y248C |
probably benign |
Het |
| Tlx1 |
C |
A |
19: 45,139,421 (GRCm39) |
Q23K |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Tspyl1 |
G |
A |
10: 34,158,334 (GRCm39) |
D20N |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,959 (GRCm39) |
F24L |
probably damaging |
Het |
| Vmn1r204 |
T |
A |
13: 22,741,230 (GRCm39) |
V287D |
probably damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,340,228 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
T |
G |
8: 123,994,646 (GRCm39) |
V571G |
probably 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 |
|
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 |
|
|
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'- TCTGCAGAGCCACTCAGAAG -3'
(R):5'- TCTTCTTCTCCAAAGGGGCC -3'
Sequencing Primer
(F):5'- TCAGAAGCCCAGCCCCTG -3'
(R):5'- AGACTCTCGCAGGCTGTCATG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation