Incidental Mutation 'IGL01750:Rin1'
| ID |
153115 |
| 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 # |
IGL01750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5100509-5107099 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5102064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 134
(I134T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025818]
[ENSMUST00000116567]
[ENSMUST00000224178]
[ENSMUST00000224288]
[ENSMUST00000224363]
[ENSMUST00000225427]
[ENSMUST00000225799]
|
| AlphaFold |
Q921Q7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025818
AA Change: I202T
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
AA Change: I202T
| 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 |
probably benign
Transcript: ENSMUST00000224032
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224254
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224288
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224363
AA Change: I134T
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225427
AA Change: I191T
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,742,030 (GRCm39) |
R616G |
probably damaging |
Het |
| Cacna1b |
G |
A |
2: 24,544,407 (GRCm39) |
P1260S |
probably damaging |
Het |
| Ccz1 |
A |
T |
5: 143,940,880 (GRCm39) |
Y225N |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,303,897 (GRCm39) |
P1101S |
probably damaging |
Het |
| Cyp2d22 |
T |
A |
15: 82,258,570 (GRCm39) |
H97L |
probably benign |
Het |
| Emsy |
G |
A |
7: 98,268,508 (GRCm39) |
S511F |
probably damaging |
Het |
| Fnbp1l |
G |
T |
3: 122,338,326 (GRCm39) |
Y351* |
probably null |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Hrob |
T |
C |
11: 102,145,777 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,049 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,627,177 (GRCm39) |
N123S |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,048,064 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,922,465 (GRCm39) |
E6558G |
probably damaging |
Het |
| Or2j6 |
T |
C |
7: 139,980,570 (GRCm39) |
T130A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
| Pitx1 |
A |
G |
13: 55,974,304 (GRCm39) |
Y176H |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,589 (GRCm39) |
V4116A |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,575,680 (GRCm39) |
V617A |
possibly damaging |
Het |
| Pprc1 |
T |
C |
19: 46,060,268 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
G |
A |
5: 120,256,857 (GRCm39) |
A57T |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,361,815 (GRCm39) |
A137V |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,427,153 (GRCm39) |
Y756C |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,545,435 (GRCm39) |
L986P |
probably damaging |
Het |
| Tmem132c |
C |
A |
5: 127,540,023 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Zfp474 |
A |
G |
18: 52,772,349 (GRCm39) |
N334S |
possibly damaging |
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 |
|
IGL02828:Rin1
|
APN |
19 |
5,103,118 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02867:Rin1
|
APN |
19 |
5,103,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation