Incidental Mutation 'IGL02867:Rin1'
ID |
362376 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rin1
|
Ensembl Gene |
ENSMUSG00000024883 |
Gene Name |
Ras and Rab interactor 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02867
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
5100509-5107099 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 5103198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 485
(R485C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025818]
[ENSMUST00000116567]
[ENSMUST00000224178]
[ENSMUST00000224288]
[ENSMUST00000224363]
[ENSMUST00000225427]
[ENSMUST00000225799]
|
AlphaFold |
Q921Q7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025818
AA Change: R496C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025818 Gene: ENSMUSG00000024883 AA Change: R496C
Domain | Start | End | E-Value | Type |
SH2
|
66 |
153 |
2.16e-5 |
SMART |
low complexity region
|
241 |
264 |
N/A |
INTRINSIC |
low complexity region
|
286 |
300 |
N/A |
INTRINSIC |
low complexity region
|
307 |
341 |
N/A |
INTRINSIC |
low complexity region
|
405 |
422 |
N/A |
INTRINSIC |
low complexity region
|
432 |
454 |
N/A |
INTRINSIC |
VPS9
|
478 |
596 |
2.29e-64 |
SMART |
RA
|
613 |
694 |
1.14e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116567
|
SMART Domains |
Protein: ENSMUSP00000112266 Gene: ENSMUSG00000080268
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
59 |
N/A |
INTRINSIC |
Pfam:Sds3
|
60 |
209 |
5.3e-23 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224032
AA Change: R22C
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224178
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224254
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224288
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224363
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225427
AA Change: R485C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225799
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225203
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display an enhanced conditioned response in cued conditioning protocols and avoidance learning tests. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
T |
A |
5: 24,776,149 (GRCm39) |
Y310F |
probably benign |
Het |
Adarb1 |
C |
T |
10: 77,149,375 (GRCm39) |
V371I |
probably benign |
Het |
Antxr2 |
G |
T |
5: 98,125,509 (GRCm39) |
H249Q |
probably benign |
Het |
Arel1 |
A |
T |
12: 84,981,097 (GRCm39) |
N303K |
probably benign |
Het |
Bloc1s6 |
T |
C |
2: 122,584,604 (GRCm39) |
Y60H |
probably damaging |
Het |
Ccdc125 |
A |
T |
13: 100,820,790 (GRCm39) |
|
probably benign |
Het |
Cxcl16 |
A |
T |
11: 70,349,892 (GRCm39) |
Y45N |
possibly damaging |
Het |
Dnajb3 |
T |
A |
1: 88,133,249 (GRCm39) |
Q51L |
probably benign |
Het |
Ear10 |
A |
G |
14: 44,160,726 (GRCm39) |
F34L |
probably damaging |
Het |
Fgf11 |
A |
G |
11: 69,690,498 (GRCm39) |
S100P |
possibly damaging |
Het |
Fpgs |
G |
A |
2: 32,575,891 (GRCm39) |
|
probably benign |
Het |
Fyb1 |
A |
T |
15: 6,609,527 (GRCm39) |
Q33H |
probably damaging |
Het |
Ints3 |
G |
T |
3: 90,300,143 (GRCm39) |
H925N |
probably damaging |
Het |
Krt16 |
T |
C |
11: 100,138,402 (GRCm39) |
K249E |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,382,794 (GRCm39) |
S30R |
possibly damaging |
Het |
Naa35 |
T |
C |
13: 59,756,668 (GRCm39) |
|
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,770,970 (GRCm39) |
I34V |
probably benign |
Het |
Or1e22 |
A |
G |
11: 73,376,817 (GRCm39) |
Y278H |
probably damaging |
Het |
Or8g2b |
A |
G |
9: 39,751,533 (GRCm39) |
M268V |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,426,214 (GRCm39) |
|
probably benign |
Het |
Pramel6 |
A |
T |
2: 87,340,736 (GRCm39) |
Q356L |
probably damaging |
Het |
Prima1 |
A |
G |
12: 103,163,575 (GRCm39) |
V132A |
probably benign |
Het |
Psme1 |
A |
G |
14: 55,817,383 (GRCm39) |
|
probably benign |
Het |
Rdh11 |
A |
G |
12: 79,235,828 (GRCm39) |
V40A |
possibly damaging |
Het |
Rnf40 |
C |
A |
7: 127,190,601 (GRCm39) |
S255* |
probably null |
Het |
Spata24 |
C |
A |
18: 35,789,805 (GRCm39) |
R194L |
probably benign |
Het |
Spata31h1 |
C |
T |
10: 82,119,654 (GRCm39) |
S482N |
probably damaging |
Het |
Tas1r1 |
A |
T |
4: 152,112,735 (GRCm39) |
S773T |
probably damaging |
Het |
Trdv5 |
G |
T |
14: 54,386,429 (GRCm39) |
|
probably benign |
Het |
Trpc3 |
A |
C |
3: 36,694,850 (GRCm39) |
D701E |
probably benign |
Het |
Vim |
A |
G |
2: 13,585,491 (GRCm39) |
R424G |
probably damaging |
Het |
Vmn1r216 |
A |
C |
13: 23,283,649 (GRCm39) |
T111P |
probably damaging |
Het |
Zbtb26 |
A |
C |
2: 37,326,261 (GRCm39) |
N247K |
probably benign |
Het |
Zfp629 |
T |
G |
7: 127,209,203 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Rin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00430:Rin1
|
APN |
19 |
5,101,404 (GRCm39) |
missense |
probably benign |
0.43 |
IGL00504:Rin1
|
APN |
19 |
5,102,438 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01750:Rin1
|
APN |
19 |
5,102,064 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02828:Rin1
|
APN |
19 |
5,103,118 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02879:Rin1
|
APN |
19 |
5,101,383 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03055:Rin1
|
UTSW |
19 |
5,103,187 (GRCm39) |
missense |
probably benign |
|
R0193:Rin1
|
UTSW |
19 |
5,102,680 (GRCm39) |
missense |
probably damaging |
0.96 |
R1174:Rin1
|
UTSW |
19 |
5,105,231 (GRCm39) |
missense |
probably benign |
0.02 |
R1712:Rin1
|
UTSW |
19 |
5,105,171 (GRCm39) |
missense |
probably benign |
0.00 |
R2656:Rin1
|
UTSW |
19 |
5,102,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R3930:Rin1
|
UTSW |
19 |
5,103,002 (GRCm39) |
missense |
probably benign |
0.14 |
R4704:Rin1
|
UTSW |
19 |
5,105,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R5326:Rin1
|
UTSW |
19 |
5,102,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R6778:Rin1
|
UTSW |
19 |
5,104,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R7107:Rin1
|
UTSW |
19 |
5,100,801 (GRCm39) |
unclassified |
probably benign |
|
R7391:Rin1
|
UTSW |
19 |
5,100,888 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R7535:Rin1
|
UTSW |
19 |
5,102,564 (GRCm39) |
missense |
probably benign |
0.01 |
R7818:Rin1
|
UTSW |
19 |
5,102,219 (GRCm39) |
missense |
probably benign |
0.03 |
R8037:Rin1
|
UTSW |
19 |
5,101,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8336:Rin1
|
UTSW |
19 |
5,105,013 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8543:Rin1
|
UTSW |
19 |
5,102,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R8845:Rin1
|
UTSW |
19 |
5,104,947 (GRCm39) |
missense |
probably damaging |
0.98 |
R9120:Rin1
|
UTSW |
19 |
5,103,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R9254:Rin1
|
UTSW |
19 |
5,103,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R9419:Rin1
|
UTSW |
19 |
5,103,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |