Incidental Mutation 'R5599:Rin3'
| ID |
438953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rin3
|
| Ensembl Gene |
ENSMUSG00000044456 |
| Gene Name |
Ras and Rab interactor 3 |
| Synonyms |
|
| MMRRC Submission |
043151-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5599 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
102249307-102357114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102356188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 830
(F830L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021607]
[ENSMUST00000056950]
[ENSMUST00000110020]
[ENSMUST00000133820]
|
| AlphaFold |
P59729 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021607
|
| SMART Domains |
Protein: ENSMUSP00000021607
Gene: ENSMUSG00000021190
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C13
|
31 |
288 |
8e-120 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056950
AA Change: F910L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060771
Gene: ENSMUSG00000044456
AA Change: F910L
| 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: ENSMUST00000110020
|
| SMART Domains |
Protein: ENSMUSP00000105647
Gene: ENSMUSG00000021190
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C13
|
31 |
288 |
8e-120 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133820
AA Change: F830L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122646
Gene: ENSMUSG00000044456
AA Change: F830L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
A |
7: 78,946,746 (GRCm39) |
|
probably null |
Het |
| Agpat3 |
T |
C |
10: 78,110,103 (GRCm39) |
D282G |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,693,860 (GRCm39) |
A24T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,424 (GRCm39) |
N1128D |
possibly damaging |
Het |
| Cry1 |
A |
T |
10: 84,980,114 (GRCm39) |
M398K |
probably benign |
Het |
| Dpp10 |
A |
G |
1: 123,832,803 (GRCm39) |
I47T |
probably damaging |
Het |
| Fpr-rs6 |
C |
T |
17: 20,402,375 (GRCm39) |
D329N |
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gxylt1 |
CTCATCCGGGTCAT |
CTCAT |
15: 93,152,198 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,454,097 (GRCm39) |
|
probably benign |
Het |
| Lbx1 |
T |
A |
19: 45,223,519 (GRCm39) |
S50C |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,324 (GRCm39) |
N183S |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,429,738 (GRCm39) |
N444S |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,873,987 (GRCm39) |
C1626S |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,732,269 (GRCm39) |
E553G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,069,733 (GRCm39) |
T704S |
probably benign |
Het |
| Or4c3d |
A |
G |
2: 89,882,563 (GRCm39) |
V35A |
probably benign |
Het |
| Or56a3 |
T |
C |
7: 104,735,757 (GRCm39) |
|
probably null |
Het |
| Or7g29 |
T |
G |
9: 19,286,925 (GRCm39) |
N84T |
possibly damaging |
Het |
| Or9m1b |
T |
G |
2: 87,836,349 (GRCm39) |
I258L |
probably benign |
Het |
| Plekha7 |
T |
A |
7: 115,776,117 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
C |
6: 71,944,346 (GRCm39) |
M1271T |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,668,323 (GRCm39) |
M595T |
probably damaging |
Het |
| Ppox |
A |
T |
1: 171,105,033 (GRCm39) |
V412D |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,793,645 (GRCm39) |
V573A |
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,181,701 (GRCm39) |
Y430H |
probably benign |
Het |
| Psmd6 |
A |
C |
14: 14,120,144 (GRCm38) |
M65R |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,938,713 (GRCm39) |
R520* |
probably null |
Het |
| Sema4b |
A |
G |
7: 79,863,039 (GRCm39) |
K104R |
probably benign |
Het |
| Slitrk1 |
T |
C |
14: 109,149,244 (GRCm39) |
D489G |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,729,789 (GRCm39) |
T110A |
possibly damaging |
Het |
| Sult2a6 |
T |
A |
7: 13,988,629 (GRCm39) |
K44* |
probably null |
Het |
| Tasor |
A |
G |
14: 27,201,886 (GRCm39) |
N1427D |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tcstv2c |
A |
C |
13: 120,616,458 (GRCm39) |
Q99P |
probably damaging |
Het |
| Tnxb |
G |
T |
17: 34,909,176 (GRCm39) |
G1445V |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,909,179 (GRCm39) |
V1569A |
probably benign |
Het |
| Zcchc2 |
A |
G |
1: 105,959,880 (GRCm39) |
D1163G |
probably damaging |
Het |
| Zfp365 |
C |
T |
10: 67,745,197 (GRCm39) |
E194K |
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 |
|
|
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 |
|
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'- TGTTGGGATGAAAGTGACCC -3'
(R):5'- TCCTGCCACCACAGCTTATAG -3'
Sequencing Primer
(F):5'- GTGACCCAGAATGCTATTGGTAACC -3'
(R):5'- CTACTATACAGGGCTGGCTTGAAGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation