Incidental Mutation 'IGL03055:Rin1'
| ID |
453406 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL03055 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5100509-5107099 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5103187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 481
(T481I)
|
| 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 benign
Transcript: ENSMUST00000025818
AA Change: T492I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
AA Change: T492I
| 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: T18I
|
| 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 benign
Transcript: ENSMUST00000225427
AA Change: T481I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225799
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900041M22Rik |
T |
A |
11: 117,503,072 (GRCm39) |
|
noncoding transcript |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A430005L14Rik |
T |
A |
4: 154,045,092 (GRCm39) |
S40R |
probably benign |
Het |
| Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
| Alkbh8 |
T |
C |
9: 3,345,882 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
| Cchcr1 |
T |
A |
17: 35,837,516 (GRCm39) |
M406K |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,817,054 (GRCm39) |
D102E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Clec16a |
T |
A |
16: 10,559,645 (GRCm39) |
S973T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,145,515 (GRCm39) |
Y1471H |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,594,697 (GRCm39) |
Y3489C |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,191,211 (GRCm39) |
E464G |
probably damaging |
Het |
| Enpp2 |
C |
A |
15: 54,729,481 (GRCm39) |
|
probably null |
Het |
| Erich2 |
G |
T |
2: 70,339,529 (GRCm39) |
C28F |
possibly damaging |
Het |
| Fam135b |
A |
T |
15: 71,493,883 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Gfral |
T |
A |
9: 76,115,831 (GRCm39) |
T48S |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,557,836 (GRCm39) |
E293G |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,288,792 (GRCm39) |
N3691K |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nefm |
T |
C |
14: 68,360,358 (GRCm39) |
T371A |
probably damaging |
Het |
| Nkain3 |
C |
A |
4: 20,778,308 (GRCm39) |
C3F |
probably benign |
Het |
| Nol4l |
G |
C |
2: 153,278,190 (GRCm39) |
|
silent |
Het |
| Nprl3 |
C |
A |
11: 32,198,230 (GRCm39) |
|
probably benign |
Het |
| Or52p1 |
A |
T |
7: 104,267,413 (GRCm39) |
I176F |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,523,069 (GRCm39) |
|
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,071,879 (GRCm39) |
K128R |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,375,533 (GRCm39) |
L1329P |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,647,370 (GRCm39) |
|
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,172,732 (GRCm39) |
I46V |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,104,971 (GRCm39) |
L524P |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,902 (GRCm39) |
|
silent |
Het |
| Ssh2 |
C |
T |
11: 77,299,021 (GRCm39) |
Q123* |
probably null |
Het |
| St18 |
G |
T |
1: 6,872,959 (GRCm39) |
L231F |
probably damaging |
Het |
| Stk11 |
A |
C |
10: 79,963,920 (GRCm39) |
D96A |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,108,615 (GRCm39) |
T1918A |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
C |
A |
5: 65,083,939 (GRCm39) |
V213F |
probably benign |
Het |
| Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
G |
A |
1: 74,822,013 (GRCm39) |
R198H |
probably damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,019 (GRCm39) |
V98E |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,515 (GRCm39) |
T248A |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,293,251 (GRCm39) |
|
probably null |
Het |
| Zfp697 |
T |
G |
3: 98,332,810 (GRCm39) |
C79G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCGCTCTGTTCTCAAGC -3'
(R):5'- AGAGTGGGCTCCTTCTATCTTG -3'
Sequencing Primer
(F):5'- AAGCCTCTTCGACCCATTCTGG -3'
(R):5'- GGGCTCCTTCTATCTTGTTTGCAG -3'
|
| Posted On |
2017-02-03 |
Incidental Mutation