Incidental Mutation 'R6778:Rin1'
| ID |
531394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rin1
|
| Ensembl Gene |
ENSMUSG00000024883 |
| Gene Name |
Ras and Rab interactor 1 |
| Synonyms |
|
| MMRRC Submission |
044894-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6778 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5100509-5107099 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5104914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 647
(L647P)
|
| 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: L658P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
AA Change: L658P
| 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 |
probably benign
Transcript: ENSMUST00000224288
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224363
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225427
AA Change: L647P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225799
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
A |
10: 61,061,231 (GRCm39) |
N403Y |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,072,599 (GRCm39) |
E989G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,187 (GRCm39) |
N90S |
probably damaging |
Het |
| Apol9a |
T |
C |
15: 77,288,533 (GRCm39) |
Y278C |
probably benign |
Het |
| Casq2 |
T |
A |
3: 102,035,247 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,547,601 (GRCm39) |
T1284S |
possibly damaging |
Het |
| Dlat |
A |
G |
9: 50,562,157 (GRCm39) |
L289P |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,854,640 (GRCm39) |
P101S |
probably benign |
Het |
| Dzip3 |
C |
A |
16: 48,802,446 (GRCm39) |
A28S |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,102,112 (GRCm39) |
E249G |
possibly damaging |
Het |
| Fubp3 |
A |
T |
2: 31,488,685 (GRCm39) |
K180N |
possibly damaging |
Het |
| Gm7489 |
T |
A |
15: 53,749,348 (GRCm39) |
|
probably benign |
Het |
| Ifitm6 |
A |
T |
7: 140,596,056 (GRCm39) |
M59K |
possibly damaging |
Het |
| Igkv4-80 |
A |
T |
6: 68,993,545 (GRCm39) |
Y115* |
probably null |
Het |
| Igsf21 |
G |
T |
4: 139,761,959 (GRCm39) |
R240S |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,649,742 (GRCm39) |
N942K |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 65,021,630 (GRCm39) |
T35K |
possibly damaging |
Het |
| Mvk |
T |
A |
5: 114,590,441 (GRCm39) |
D193E |
probably benign |
Het |
| Npas2 |
T |
A |
1: 39,364,381 (GRCm39) |
M241K |
possibly damaging |
Het |
| Npsr1 |
T |
A |
9: 24,165,914 (GRCm39) |
I100N |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,472,639 (GRCm39) |
D50G |
probably damaging |
Het |
| Or10d4c |
T |
A |
9: 39,558,043 (GRCm39) |
V7E |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,965,645 (GRCm39) |
D604G |
probably damaging |
Het |
| Pitx2 |
C |
T |
3: 129,012,392 (GRCm39) |
P254L |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,176,408 (GRCm39) |
F56S |
probably damaging |
Het |
| Sgk3 |
T |
A |
1: 9,956,369 (GRCm39) |
|
probably null |
Het |
| Sgpp1 |
A |
G |
12: 75,763,068 (GRCm39) |
I371T |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,313,343 (GRCm39) |
Y872C |
possibly damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,522 (GRCm39) |
K367R |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,052,406 (GRCm39) |
F7487L |
probably damaging |
Het |
| Tars1 |
T |
C |
15: 11,389,785 (GRCm39) |
N375S |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,801,425 (GRCm39) |
Y320C |
probably damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,946 (GRCm39) |
F73L |
probably benign |
Het |
| Tmem145 |
G |
A |
7: 25,010,801 (GRCm39) |
V378I |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,457,209 (GRCm39) |
H150R |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,913,835 (GRCm39) |
I1326L |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,500 (GRCm39) |
Y502C |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,916,512 (GRCm39) |
I811V |
probably benign |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,143 (GRCm39) |
A182T |
probably benign |
Het |
| Wdr47 |
T |
A |
3: 108,540,412 (GRCm39) |
N602K |
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 |
|
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 |
|
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'- AGCTCACAAGTCAGTCAGGC -3'
(R):5'- ACAGCTATCCGAGGTTTCCC -3'
Sequencing Primer
(F):5'- AGTCAGTCAGGCCCACCATG -3'
(R):5'- GAGGTTTCCCTTCTCTGTTTAGAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation