Incidental Mutation 'R7837:Rin3'
| ID |
606061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rin3
|
| Ensembl Gene |
ENSMUSG00000044456 |
| Gene Name |
Ras and Rab interactor 3 |
| Synonyms |
|
| MMRRC Submission |
045891-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7837 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
102249307-102357114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102335024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 312
(T312A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056950]
[ENSMUST00000133820]
|
| AlphaFold |
P59729 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000056950
AA Change: T312A
|
| SMART Domains |
Protein: ENSMUSP00000060771
Gene: ENSMUSG00000044456
AA Change: T312A
| 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 |
unknown
Transcript: ENSMUST00000133820
AA Change: T232A
|
| SMART Domains |
Protein: ENSMUSP00000122646
Gene: ENSMUSG00000044456
AA Change: T232A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,344,547 (GRCm39) |
S108P |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,768,830 (GRCm39) |
|
probably null |
Het |
| Adam22 |
T |
A |
5: 8,199,284 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,167,915 (GRCm39) |
Y1007C |
probably damaging |
Het |
| Anapc4 |
T |
A |
5: 53,016,550 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
T |
A |
6: 48,882,584 (GRCm39) |
Y153* |
probably null |
Het |
| Armc1 |
A |
T |
3: 19,198,633 (GRCm39) |
I109N |
probably benign |
Het |
| Bcl2 |
A |
C |
1: 106,471,086 (GRCm39) |
F207V |
possibly damaging |
Het |
| Btd |
C |
A |
14: 31,388,784 (GRCm39) |
S168R |
possibly damaging |
Het |
| Cage1 |
A |
T |
13: 38,206,381 (GRCm39) |
M488K |
not run |
Het |
| Cemip2 |
T |
A |
19: 21,775,385 (GRCm39) |
D209E |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,796,185 (GRCm39) |
N224S |
probably benign |
Het |
| Cln6 |
T |
C |
9: 62,756,330 (GRCm39) |
V81A |
|
Het |
| Crispld1 |
T |
A |
1: 17,798,954 (GRCm39) |
V25E |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,518,176 (GRCm39) |
T1808A |
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,819,619 (GRCm39) |
R851H |
possibly damaging |
Het |
| Dtx3l |
T |
A |
16: 35,751,896 (GRCm39) |
N675I |
probably damaging |
Het |
| Dusp28 |
A |
G |
1: 92,835,405 (GRCm39) |
E163G |
probably benign |
Het |
| Ecd |
A |
T |
14: 20,383,400 (GRCm39) |
F346L |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,014,363 (GRCm39) |
V545M |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 36,276,134 (GRCm39) |
Y1597F |
possibly damaging |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gria2 |
A |
T |
3: 80,618,095 (GRCm39) |
N313K |
probably benign |
Het |
| Igkv13-84 |
C |
T |
6: 68,916,793 (GRCm39) |
S30F |
possibly damaging |
Het |
| Kcnh6 |
C |
A |
11: 105,924,636 (GRCm39) |
H867N |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,792 (GRCm39) |
Q196R |
possibly damaging |
Het |
| Mbd4 |
T |
C |
6: 115,826,500 (GRCm39) |
N164D |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,076 (GRCm39) |
M201K |
possibly damaging |
Het |
| Msh6 |
G |
A |
17: 88,292,094 (GRCm39) |
G283E |
probably damaging |
Het |
| Msr1 |
C |
T |
8: 40,034,873 (GRCm39) |
C426Y |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,369,700 (GRCm39) |
H3149R |
possibly damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,074,146 (GRCm39) |
M156V |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,068,415 (GRCm39) |
V884A |
possibly damaging |
Het |
| Or13a21 |
T |
C |
7: 139,999,234 (GRCm39) |
I151V |
probably benign |
Het |
| Or4c102 |
A |
T |
2: 88,422,723 (GRCm39) |
I192F |
possibly damaging |
Het |
| Or4k15b |
T |
A |
14: 50,272,033 (GRCm39) |
T276S |
probably damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,156,052 (GRCm39) |
C34S |
possibly damaging |
Het |
| Pakap |
A |
G |
4: 57,855,262 (GRCm39) |
D197G |
probably damaging |
Het |
| Pcnx4 |
C |
A |
12: 72,602,892 (GRCm39) |
L385M |
probably damaging |
Het |
| Pgap4 |
A |
T |
4: 49,586,262 (GRCm39) |
M302K |
probably damaging |
Het |
| Plscr4 |
T |
A |
9: 92,366,976 (GRCm39) |
C197S |
probably damaging |
Het |
| Septin7 |
T |
A |
9: 25,199,531 (GRCm39) |
N143K |
possibly damaging |
Het |
| Sgk2 |
A |
G |
2: 162,845,216 (GRCm39) |
K208E |
probably damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,238,539 (GRCm39) |
T236S |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,088,832 (GRCm39) |
L810P |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,146 (GRCm39) |
S3468G |
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,201,300 (GRCm39) |
S169G |
probably benign |
Het |
| Tex56 |
A |
T |
13: 35,128,359 (GRCm39) |
Q192L |
possibly damaging |
Het |
| Tssk2 |
T |
C |
16: 17,716,615 (GRCm39) |
V6A |
possibly damaging |
Het |
| Ttll4 |
A |
T |
1: 74,720,916 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
C |
T |
4: 139,120,462 (GRCm39) |
R296* |
probably null |
Het |
| Wscd2 |
G |
T |
5: 113,710,394 (GRCm39) |
C306F |
probably damaging |
Het |
| Zbtb43 |
C |
T |
2: 33,343,981 (GRCm39) |
G378R |
probably damaging |
Het |
| Zdhhc12 |
A |
T |
2: 29,981,709 (GRCm39) |
V165E |
probably damaging |
Het |
| Zfp59 |
GAAA |
GAAAAA |
7: 27,554,342 (GRCm39) |
|
probably null |
Het |
| Zfp943 |
A |
T |
17: 22,211,346 (GRCm39) |
Y144F |
probably benign |
Het |
| Zkscan8 |
T |
A |
13: 21,704,598 (GRCm39) |
N447I |
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 |
|
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 |
|
|
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'- ATCCTATTTTCATCGAGGACTGC -3'
(R):5'- GCCTTCTTCAGGGGTAATGGAG -3'
Sequencing Primer
(F):5'- GACTGCATCCTACCGGCTGATC -3'
(R):5'- TTCAGGGGTAATGGAGGGGGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation