Incidental Mutation 'R7875:Rin3'
ID |
608399 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rin3
|
Ensembl Gene |
ENSMUSG00000044456 |
Gene Name |
Ras and Rab interactor 3 |
Synonyms |
|
MMRRC Submission |
045927-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7875 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
102249307-102357114 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102335735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 549
(S549P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056950]
[ENSMUST00000133820]
|
AlphaFold |
P59729 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056950
AA Change: S549P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000060771 Gene: ENSMUSG00000044456 AA Change: S549P
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 damaging
Transcript: ENSMUST00000133820
AA Change: S469P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122646 Gene: ENSMUSG00000044456 AA Change: S469P
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: 99.7%
- 20x: 99.2%
|
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 |
Acap2 |
A |
T |
16: 30,958,459 (GRCm39) |
F102I |
probably damaging |
Het |
Acp7 |
A |
T |
7: 28,314,152 (GRCm39) |
Y348N |
probably damaging |
Het |
Adgre4 |
A |
T |
17: 56,099,016 (GRCm39) |
D174V |
probably benign |
Het |
Ahdc1 |
A |
G |
4: 132,791,161 (GRCm39) |
T801A |
possibly damaging |
Het |
Aldh1a7 |
A |
C |
19: 20,693,343 (GRCm39) |
V192G |
possibly damaging |
Het |
Anp32b |
T |
G |
4: 46,451,301 (GRCm39) |
D2E |
probably benign |
Het |
Arhgef11 |
A |
T |
3: 87,591,808 (GRCm39) |
D53V |
probably damaging |
Het |
Arid5b |
T |
C |
10: 67,964,771 (GRCm39) |
N300S |
probably benign |
Het |
Ascc2 |
A |
G |
11: 4,618,389 (GRCm39) |
N328S |
probably benign |
Het |
Aspm |
A |
T |
1: 139,382,872 (GRCm39) |
Q68L |
probably benign |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Ccser1 |
A |
T |
6: 61,288,932 (GRCm39) |
H365L |
probably benign |
Het |
Col1a2 |
T |
A |
6: 4,518,500 (GRCm39) |
N213K |
unknown |
Het |
Col7a1 |
T |
C |
9: 108,787,763 (GRCm39) |
V681A |
unknown |
Het |
Cplane1 |
A |
G |
15: 8,239,446 (GRCm39) |
I1216V |
probably benign |
Het |
Dock9 |
A |
T |
14: 121,863,396 (GRCm39) |
Y792* |
probably null |
Het |
Fam241b |
A |
T |
10: 61,970,271 (GRCm39) |
S10R |
|
Het |
Gab1 |
C |
T |
8: 81,515,395 (GRCm39) |
D308N |
probably damaging |
Het |
Gdf11 |
C |
T |
10: 128,722,210 (GRCm39) |
R215H |
probably benign |
Het |
Gpc1 |
T |
C |
1: 92,782,970 (GRCm39) |
|
probably null |
Het |
Hnf4a |
G |
T |
2: 163,400,980 (GRCm39) |
E200* |
probably null |
Het |
Ints2 |
T |
C |
11: 86,103,888 (GRCm39) |
T1086A |
probably damaging |
Het |
Kbtbd7 |
A |
G |
14: 79,664,806 (GRCm39) |
T213A |
probably benign |
Het |
Kcnt2 |
A |
G |
1: 140,501,385 (GRCm39) |
D917G |
probably damaging |
Het |
Kdm5a |
C |
A |
6: 120,375,979 (GRCm39) |
Y578* |
probably null |
Het |
Lrrtm4 |
A |
T |
6: 79,999,343 (GRCm39) |
T252S |
possibly damaging |
Het |
Mamdc4 |
C |
T |
2: 25,458,677 (GRCm39) |
W305* |
probably null |
Het |
Mzb1 |
A |
G |
18: 35,780,913 (GRCm39) |
I125T |
possibly damaging |
Het |
Nfrkb |
A |
G |
9: 31,321,450 (GRCm39) |
T716A |
possibly damaging |
Het |
Or2ad1 |
T |
A |
13: 21,327,093 (GRCm39) |
I45F |
probably damaging |
Het |
Or4f6 |
A |
G |
2: 111,839,192 (GRCm39) |
V113A |
probably benign |
Het |
Or52r1b |
A |
G |
7: 102,691,060 (GRCm39) |
M120V |
probably damaging |
Het |
Or8k16 |
G |
A |
2: 85,519,838 (GRCm39) |
E22K |
probably benign |
Het |
Plcxd2 |
G |
A |
16: 45,830,065 (GRCm39) |
A52V |
possibly damaging |
Het |
Poteg |
C |
T |
8: 27,939,942 (GRCm39) |
P95L |
probably benign |
Het |
Prdm9 |
A |
T |
17: 15,773,804 (GRCm39) |
Y322* |
probably null |
Het |
Rab11fip2 |
G |
C |
19: 59,925,655 (GRCm39) |
I187M |
possibly damaging |
Het |
Ranbp2 |
G |
T |
10: 58,314,277 (GRCm39) |
E1666* |
probably null |
Het |
Scn10a |
C |
T |
9: 119,464,508 (GRCm39) |
|
probably null |
Het |
Scn3a |
A |
G |
2: 65,327,826 (GRCm39) |
F888S |
probably damaging |
Het |
Sik3 |
T |
A |
9: 46,034,528 (GRCm39) |
I96N |
probably damaging |
Het |
Slc12a7 |
T |
A |
13: 73,936,723 (GRCm39) |
C128S |
possibly damaging |
Het |
Spata31h1 |
T |
C |
10: 82,123,456 (GRCm39) |
S3185G |
possibly damaging |
Het |
Syde2 |
A |
G |
3: 145,726,020 (GRCm39) |
E1304G |
probably damaging |
Het |
Tagln |
T |
C |
9: 45,841,680 (GRCm39) |
I199V |
probably damaging |
Het |
Tars3 |
T |
A |
7: 65,327,899 (GRCm39) |
V536E |
probably benign |
Het |
Tas2r140 |
A |
G |
6: 40,469,097 (GRCm39) |
K309R |
probably damaging |
Het |
Thra |
A |
T |
11: 98,659,257 (GRCm39) |
D462V |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,578,652 (GRCm39) |
T521A |
possibly damaging |
Het |
Uhrf1 |
A |
G |
17: 56,619,884 (GRCm39) |
N265S |
possibly damaging |
Het |
Upk3b |
A |
T |
5: 136,069,057 (GRCm39) |
Y142F |
probably benign |
Het |
Vmn1r219 |
T |
C |
13: 23,347,363 (GRCm39) |
V184A |
possibly damaging |
Het |
Vmn1r58 |
T |
C |
7: 5,413,753 (GRCm39) |
D159G |
probably damaging |
Het |
Vnn3 |
C |
A |
10: 23,743,146 (GRCm39) |
A452D |
possibly damaging |
Het |
Wscd1 |
T |
A |
11: 71,679,560 (GRCm39) |
Y478N |
probably damaging |
Het |
Xrcc5 |
C |
T |
1: 72,369,090 (GRCm39) |
R315C |
probably damaging |
Het |
Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
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 |
|
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'- GACTGGTGCATCTTGGGAAG -3'
(R):5'- CTCCAGGCTGTACACCTTGTAG -3'
Sequencing Primer
(F):5'- AAGGCTTGAGTCCTGTCCG -3'
(R):5'- CCGAAGTAGGAGCTCTTGTC -3'
|
Posted On |
2019-12-20 |