Incidental Mutation 'IGL00430:Rin1'
| ID |
5695 |
| 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 # |
IGL00430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5100509-5107099 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5101404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 96
(N96S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025818]
[ENSMUST00000116567]
[ENSMUST00000224178]
[ENSMUST00000224288]
[ENSMUST00000224363]
[ENSMUST00000225427]
[ENSMUST00000225799]
|
| AlphaFold |
Q921Q7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025818
AA Change: N96S
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
AA Change: N96S
| 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 |
probably benign
Transcript: ENSMUST00000224363
AA Change: N28S
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225427
AA Change: N96S
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225799
|
| 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 |
|---|
| Abcc2 |
G |
A |
19: 43,772,641 (GRCm39) |
S17N |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| Baz2b |
C |
A |
2: 59,743,139 (GRCm39) |
A1611S |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,344,586 (GRCm39) |
I475L |
probably benign |
Het |
| Cpsf4l |
C |
T |
11: 113,600,044 (GRCm39) |
|
probably benign |
Het |
| Crispld2 |
A |
T |
8: 120,760,299 (GRCm39) |
R408S |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,930,170 (GRCm39) |
M145K |
probably damaging |
Het |
| Dexi |
A |
T |
16: 10,360,309 (GRCm39) |
D82E |
probably benign |
Het |
| Epyc |
A |
T |
10: 97,517,009 (GRCm39) |
K282N |
probably benign |
Het |
| Ercc6l2 |
G |
T |
13: 64,006,133 (GRCm39) |
V588F |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,801,227 (GRCm39) |
V532I |
probably damaging |
Het |
| Grk1 |
C |
A |
8: 13,463,128 (GRCm39) |
Y383* |
probably null |
Het |
| Gtpbp1 |
G |
T |
15: 79,603,337 (GRCm39) |
G609W |
possibly damaging |
Het |
| Hadha |
C |
T |
5: 30,325,145 (GRCm39) |
V682M |
possibly damaging |
Het |
| Igdcc3 |
A |
C |
9: 65,089,301 (GRCm39) |
D499A |
probably damaging |
Het |
| Kcna10 |
T |
G |
3: 107,102,044 (GRCm39) |
V225G |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,480 (GRCm39) |
T75A |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,921,700 (GRCm39) |
E407G |
possibly damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,403,597 (GRCm39) |
K105N |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,516 (GRCm39) |
|
probably null |
Het |
| Pck2 |
C |
T |
14: 55,781,401 (GRCm39) |
A209V |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,713,461 (GRCm39) |
E1243G |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,829,203 (GRCm39) |
M25L |
probably benign |
Het |
| Rasef |
G |
A |
4: 73,689,662 (GRCm39) |
Q117* |
probably null |
Het |
| Rbm14 |
A |
G |
19: 4,861,454 (GRCm39) |
V28A |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,147,275 (GRCm39) |
T38A |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,865,773 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,047,377 (GRCm39) |
C404* |
probably null |
Het |
| St6galnac3 |
T |
C |
3: 153,215,040 (GRCm39) |
N38S |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,422,692 (GRCm38) |
S1376R |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,852,406 (GRCm39) |
I553V |
probably benign |
Het |
| Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,263,841 (GRCm39) |
L1063* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 126,995,742 (GRCm39) |
C269* |
probably null |
Het |
|
| Other mutations in Rin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation