Incidental Mutation 'R6969:Ric1'
ID |
543416 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ric1
|
Ensembl Gene |
ENSMUSG00000038658 |
Gene Name |
RAB6A GEF complex partner 1 |
Synonyms |
C030046E11Rik, C130057E09Rik |
MMRRC Submission |
045079-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
R6969 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 29563182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 535
(E535V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043610
AA Change: E535V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043437 Gene: ENSMUSG00000038658 AA Change: E535V
Domain | Start | End | E-Value | Type |
Blast:WD40
|
242 |
278 |
5e-7 |
BLAST |
SCOP:d1gxra_
|
254 |
379 |
2e-4 |
SMART |
Blast:WD40
|
285 |
334 |
3e-6 |
BLAST |
Blast:WD40
|
482 |
520 |
5e-6 |
BLAST |
low complexity region
|
642 |
653 |
N/A |
INTRINSIC |
Pfam:RIC1
|
732 |
991 |
1.9e-86 |
PFAM |
low complexity region
|
1120 |
1132 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124727 Gene: ENSMUSG00000038658 AA Change: E426V
Domain | Start | End | E-Value | Type |
Blast:WD40
|
171 |
207 |
4e-7 |
BLAST |
SCOP:d1gxra_
|
183 |
308 |
2e-4 |
SMART |
Blast:WD40
|
214 |
263 |
2e-6 |
BLAST |
low complexity region
|
534 |
545 |
N/A |
INTRINSIC |
Pfam:RIC1
|
624 |
883 |
1.6e-86 |
PFAM |
low complexity region
|
1012 |
1024 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
A |
6: 86,958,317 (GRCm39) |
L800H |
unknown |
Het |
Ap2b1 |
T |
A |
11: 83,280,552 (GRCm39) |
D788E |
probably damaging |
Het |
Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
Arhgap9 |
G |
A |
10: 127,162,512 (GRCm39) |
E348K |
probably benign |
Het |
B4galnt2 |
A |
T |
11: 95,782,756 (GRCm39) |
F19I |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,211,039 (GRCm39) |
I551N |
probably damaging |
Het |
Ceacam16 |
A |
G |
7: 19,586,230 (GRCm39) |
*427Q |
probably null |
Het |
Chd9 |
A |
C |
8: 91,705,542 (GRCm39) |
Q260P |
probably benign |
Het |
Col16a1 |
A |
T |
4: 129,986,880 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 17,266,805 (GRCm39) |
N40K |
possibly damaging |
Het |
Depdc5 |
T |
G |
5: 33,141,204 (GRCm39) |
V1368G |
probably damaging |
Het |
Dnah7b |
C |
A |
1: 46,397,398 (GRCm39) |
P3943Q |
probably damaging |
Het |
Dnttip2 |
A |
G |
3: 122,076,141 (GRCm39) |
Q691R |
probably damaging |
Het |
Dusp10 |
T |
C |
1: 183,801,085 (GRCm39) |
L284P |
probably damaging |
Het |
Efr3b |
A |
G |
12: 4,018,624 (GRCm39) |
V574A |
probably benign |
Het |
Erc2 |
A |
T |
14: 27,620,553 (GRCm39) |
I60F |
probably damaging |
Het |
Exoc2 |
A |
G |
13: 31,095,161 (GRCm39) |
V245A |
probably benign |
Het |
Fasl |
G |
T |
1: 161,609,244 (GRCm39) |
F37L |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,941,212 (GRCm39) |
P1360S |
probably benign |
Het |
Gpsm1 |
C |
T |
2: 26,230,555 (GRCm39) |
P502S |
probably benign |
Het |
Gtpbp10 |
C |
A |
5: 5,605,331 (GRCm39) |
G124V |
probably damaging |
Het |
Insm2 |
T |
C |
12: 55,646,963 (GRCm39) |
C236R |
probably damaging |
Het |
Irf2bpl |
A |
G |
12: 86,929,468 (GRCm39) |
Y402H |
possibly damaging |
Het |
Irx6 |
A |
G |
8: 93,403,958 (GRCm39) |
E175G |
probably damaging |
Het |
Kcnh8 |
C |
T |
17: 53,184,971 (GRCm39) |
R418* |
probably null |
Het |
Kif3c |
G |
A |
12: 3,416,114 (GRCm39) |
R45Q |
probably benign |
Het |
Larp7-ps |
A |
G |
4: 92,079,826 (GRCm39) |
I54T |
probably damaging |
Het |
Lpin1 |
A |
G |
12: 16,630,862 (GRCm39) |
F12S |
probably damaging |
Het |
Lrba |
A |
T |
3: 86,526,897 (GRCm39) |
T156S |
probably benign |
Het |
Lrrc19 |
G |
T |
4: 94,527,610 (GRCm39) |
N200K |
probably benign |
Het |
Lrrc7 |
G |
A |
3: 157,862,550 (GRCm39) |
H1296Y |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,212,578 (GRCm39) |
F661Y |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,351,593 (GRCm39) |
Y1893C |
probably benign |
Het |
Mmd |
G |
C |
11: 90,148,362 (GRCm39) |
A15P |
probably damaging |
Het |
Myh2 |
T |
C |
11: 67,088,092 (GRCm39) |
F1903L |
probably benign |
Het |
Myom3 |
T |
C |
4: 135,528,371 (GRCm39) |
L1072P |
probably damaging |
Het |
Or13l2 |
A |
T |
3: 97,318,118 (GRCm39) |
Y126* |
probably null |
Het |
Or56a41 |
T |
C |
7: 104,740,463 (GRCm39) |
I128V |
probably benign |
Het |
Or5bw2 |
G |
A |
7: 6,573,320 (GRCm39) |
C110Y |
probably damaging |
Het |
Or7g35 |
A |
T |
9: 19,495,886 (GRCm39) |
T18S |
possibly damaging |
Het |
Patl2 |
A |
T |
2: 121,959,410 (GRCm39) |
V18D |
possibly damaging |
Het |
Pkn1 |
T |
C |
8: 84,410,055 (GRCm39) |
S395G |
probably damaging |
Het |
Ptprm |
A |
G |
17: 67,219,413 (GRCm39) |
I726T |
possibly damaging |
Het |
Rab3gap2 |
T |
C |
1: 184,968,209 (GRCm39) |
L187P |
probably damaging |
Het |
Ripor3 |
T |
C |
2: 167,827,657 (GRCm39) |
K598R |
probably benign |
Het |
Rnf40 |
A |
G |
7: 127,195,495 (GRCm39) |
E607G |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Sbsn |
A |
G |
7: 30,452,616 (GRCm39) |
T544A |
probably benign |
Het |
Scaf1 |
C |
A |
7: 44,657,253 (GRCm39) |
|
probably benign |
Het |
Sec24a |
T |
C |
11: 51,591,643 (GRCm39) |
M1018V |
probably benign |
Het |
Shmt1 |
C |
T |
11: 60,695,153 (GRCm39) |
A54T |
probably damaging |
Het |
Slc39a14 |
C |
A |
14: 70,546,275 (GRCm39) |
V383F |
probably damaging |
Het |
Slc5a2 |
A |
G |
7: 127,871,249 (GRCm39) |
T346A |
probably benign |
Het |
Slco4a1 |
G |
A |
2: 180,106,601 (GRCm39) |
S261N |
probably benign |
Het |
Smarcc1 |
C |
G |
9: 110,025,388 (GRCm39) |
S688R |
probably damaging |
Het |
Sppl2b |
G |
A |
10: 80,700,959 (GRCm39) |
A314T |
probably damaging |
Het |
Sptb |
A |
T |
12: 76,654,781 (GRCm39) |
V1513E |
probably damaging |
Het |
Stx17 |
A |
T |
4: 48,140,462 (GRCm39) |
I56F |
probably damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,968,171 (GRCm39) |
Y424C |
probably damaging |
Het |
Tgm3 |
A |
G |
2: 129,883,949 (GRCm39) |
K536E |
probably benign |
Het |
Tti2 |
A |
G |
8: 31,644,329 (GRCm39) |
I309V |
possibly damaging |
Het |
Tymp |
G |
A |
15: 89,258,251 (GRCm39) |
S334L |
probably benign |
Het |
Unc13b |
T |
C |
4: 43,263,538 (GRCm39) |
F1587L |
possibly damaging |
Het |
Vgf |
G |
T |
5: 137,060,507 (GRCm39) |
|
probably benign |
Het |
Zfp59 |
T |
C |
7: 27,552,922 (GRCm39) |
S125P |
probably damaging |
Het |
Zfp641 |
A |
T |
15: 98,188,448 (GRCm39) |
M144K |
possibly damaging |
Het |
Zfp93 |
A |
T |
7: 23,974,806 (GRCm39) |
K264* |
probably null |
Het |
|
Other mutations in Ric1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00574:Ric1
|
APN |
19 |
29,572,762 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00902:Ric1
|
APN |
19 |
29,544,631 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01405:Ric1
|
APN |
19 |
29,544,770 (GRCm39) |
splice site |
probably benign |
|
IGL01629:Ric1
|
APN |
19 |
29,581,381 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01688:Ric1
|
APN |
19 |
29,555,014 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01966:Ric1
|
APN |
19 |
29,572,963 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02123:Ric1
|
APN |
19 |
29,572,200 (GRCm39) |
missense |
probably benign |
|
IGL02590:Ric1
|
APN |
19 |
29,544,881 (GRCm39) |
splice site |
probably benign |
|
IGL02655:Ric1
|
APN |
19 |
29,572,851 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02699:Ric1
|
APN |
19 |
29,499,957 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02718:Ric1
|
APN |
19 |
29,510,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03026:Ric1
|
APN |
19 |
29,577,233 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03142:Ric1
|
APN |
19 |
29,578,380 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0109:Ric1
|
UTSW |
19 |
29,564,077 (GRCm39) |
synonymous |
silent |
|
R0336:Ric1
|
UTSW |
19 |
29,565,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R0362:Ric1
|
UTSW |
19 |
29,578,411 (GRCm39) |
critical splice donor site |
probably null |
|
R0676:Ric1
|
UTSW |
19 |
29,555,047 (GRCm39) |
missense |
probably benign |
|
R0734:Ric1
|
UTSW |
19 |
29,572,218 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1004:Ric1
|
UTSW |
19 |
29,579,757 (GRCm39) |
missense |
probably benign |
0.00 |
R1148:Ric1
|
UTSW |
19 |
29,557,249 (GRCm39) |
missense |
probably benign |
|
R1148:Ric1
|
UTSW |
19 |
29,557,249 (GRCm39) |
missense |
probably benign |
|
R1216:Ric1
|
UTSW |
19 |
29,555,135 (GRCm39) |
missense |
probably benign |
0.00 |
R1493:Ric1
|
UTSW |
19 |
29,557,249 (GRCm39) |
missense |
probably benign |
|
R1848:Ric1
|
UTSW |
19 |
29,578,213 (GRCm39) |
splice site |
probably null |
|
R1872:Ric1
|
UTSW |
19 |
29,580,068 (GRCm39) |
missense |
probably benign |
0.32 |
R1942:Ric1
|
UTSW |
19 |
29,578,416 (GRCm39) |
splice site |
probably benign |
|
R2143:Ric1
|
UTSW |
19 |
29,510,653 (GRCm39) |
missense |
probably damaging |
0.96 |
R2143:Ric1
|
UTSW |
19 |
29,510,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R2679:Ric1
|
UTSW |
19 |
29,581,430 (GRCm39) |
missense |
probably benign |
|
R2878:Ric1
|
UTSW |
19 |
29,579,730 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2970:Ric1
|
UTSW |
19 |
29,555,118 (GRCm39) |
missense |
probably benign |
0.15 |
R3420:Ric1
|
UTSW |
19 |
29,544,990 (GRCm39) |
missense |
probably damaging |
0.96 |
R3421:Ric1
|
UTSW |
19 |
29,544,990 (GRCm39) |
missense |
probably damaging |
0.96 |
R3940:Ric1
|
UTSW |
19 |
29,548,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R4004:Ric1
|
UTSW |
19 |
29,557,201 (GRCm39) |
missense |
probably benign |
0.44 |
R4225:Ric1
|
UTSW |
19 |
29,580,131 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4280:Ric1
|
UTSW |
19 |
29,563,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4283:Ric1
|
UTSW |
19 |
29,563,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4516:Ric1
|
UTSW |
19 |
29,548,165 (GRCm39) |
missense |
probably benign |
0.17 |
R4702:Ric1
|
UTSW |
19 |
29,575,417 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4824:Ric1
|
UTSW |
19 |
29,563,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4835:Ric1
|
UTSW |
19 |
29,572,936 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5860:Ric1
|
UTSW |
19 |
29,577,245 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5883:Ric1
|
UTSW |
19 |
29,573,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R5965:Ric1
|
UTSW |
19 |
29,548,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R6141:Ric1
|
UTSW |
19 |
29,572,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R6236:Ric1
|
UTSW |
19 |
29,572,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6271:Ric1
|
UTSW |
19 |
29,544,765 (GRCm39) |
splice site |
probably null |
|
R6345:Ric1
|
UTSW |
19 |
29,581,485 (GRCm39) |
missense |
probably benign |
0.09 |
R6371:Ric1
|
UTSW |
19 |
29,539,426 (GRCm39) |
missense |
probably benign |
0.35 |
R6547:Ric1
|
UTSW |
19 |
29,572,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R6924:Ric1
|
UTSW |
19 |
29,546,788 (GRCm39) |
missense |
probably damaging |
0.98 |
R6970:Ric1
|
UTSW |
19 |
29,565,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R6993:Ric1
|
UTSW |
19 |
29,564,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Ric1
|
UTSW |
19 |
29,561,978 (GRCm39) |
critical splice donor site |
probably null |
|
R7434:Ric1
|
UTSW |
19 |
29,552,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R7619:Ric1
|
UTSW |
19 |
29,557,175 (GRCm39) |
missense |
probably benign |
0.32 |
R7850:Ric1
|
UTSW |
19 |
29,572,293 (GRCm39) |
missense |
probably benign |
|
R7941:Ric1
|
UTSW |
19 |
29,510,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R8115:Ric1
|
UTSW |
19 |
29,563,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R8117:Ric1
|
UTSW |
19 |
29,552,191 (GRCm39) |
missense |
probably benign |
0.08 |
R8477:Ric1
|
UTSW |
19 |
29,575,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R9023:Ric1
|
UTSW |
19 |
29,548,143 (GRCm39) |
splice site |
probably benign |
|
R9044:Ric1
|
UTSW |
19 |
29,577,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R9727:Ric1
|
UTSW |
19 |
29,575,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R9733:Ric1
|
UTSW |
19 |
29,580,030 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0064:Ric1
|
UTSW |
19 |
29,565,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCTGAGGAGTAAAGCCAG -3'
(R):5'- AGGCTATCCTTAAGAACAGTCAC -3'
Sequencing Primer
(F):5'- GAATGACACAGCTGTTTCTTTTAGG -3'
(R):5'- GAATGGAGCTGAATTCTCAATCCTCC -3'
|
Posted On |
2018-11-28 |