Incidental Mutation 'R6141:Ric1'
ID |
488603 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ric1
|
Ensembl Gene |
ENSMUSG00000038658 |
Gene Name |
RAB6A GEF complex partner 1 |
Synonyms |
C030046E11Rik, C130057E09Rik |
MMRRC Submission |
044288-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
R6141 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29572842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 761
(S761P)
|
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: S761P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043437 Gene: ENSMUSG00000038658 AA Change: S761P
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 |
probably benign
Transcript: ENSMUST00000160452
|
SMART Domains |
Protein: ENSMUSP00000125299 Gene: ENSMUSG00000038658
Domain | Start | End | E-Value | Type |
Pfam:RIC1
|
8 |
163 |
1.4e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161330
|
SMART Domains |
Protein: ENSMUSP00000125709 Gene: ENSMUSG00000038658
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
28 |
N/A |
INTRINSIC |
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161536
|
Predicted Effect |
unknown
Transcript: ENSMUST00000162492
AA Change: S652P
|
SMART Domains |
Protein: ENSMUSP00000124727 Gene: ENSMUSG00000038658 AA Change: S652P
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 |
|
Meta Mutation Damage Score |
0.5735 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
A |
T |
7: 42,097,483 (GRCm39) |
C4S |
probably damaging |
Het |
Abhd5 |
A |
T |
9: 122,206,998 (GRCm39) |
T95S |
probably benign |
Het |
Ambra1 |
A |
T |
2: 91,706,099 (GRCm39) |
N795Y |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,464,102 (GRCm39) |
N1289D |
possibly damaging |
Het |
Cavin2 |
T |
C |
1: 51,340,097 (GRCm39) |
L258P |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,394,807 (GRCm39) |
T233A |
possibly damaging |
Het |
Ccdc14 |
T |
A |
16: 34,526,932 (GRCm39) |
I279N |
probably damaging |
Het |
Cntn5 |
A |
T |
9: 10,144,162 (GRCm39) |
L169Q |
probably benign |
Het |
Dbf4 |
T |
C |
5: 8,458,545 (GRCm39) |
S157G |
possibly damaging |
Het |
Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
Eepd1 |
T |
A |
9: 25,394,280 (GRCm39) |
D181E |
probably benign |
Het |
Etfa |
T |
C |
9: 55,372,103 (GRCm39) |
H286R |
probably damaging |
Het |
Gm44419 |
T |
A |
6: 65,127,940 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch4 |
C |
T |
3: 87,962,047 (GRCm39) |
R155* |
probably null |
Het |
Grik1 |
T |
G |
16: 87,693,760 (GRCm39) |
R862S |
probably benign |
Het |
Hectd1 |
A |
C |
12: 51,792,875 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
C |
6: 115,892,972 (GRCm39) |
W919R |
probably damaging |
Het |
Iqgap2 |
A |
T |
13: 95,858,194 (GRCm39) |
|
probably null |
Het |
Kcnq4 |
A |
T |
4: 120,573,066 (GRCm39) |
I245N |
probably damaging |
Het |
Map3k3 |
G |
T |
11: 105,987,874 (GRCm39) |
R21L |
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,215,604 (GRCm39) |
V1063A |
probably damaging |
Het |
Msr1 |
A |
T |
8: 40,084,360 (GRCm39) |
V65E |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,113,903 (GRCm39) |
D17V |
probably damaging |
Het |
Naaladl1 |
T |
A |
19: 6,159,785 (GRCm39) |
|
probably null |
Het |
Naip6 |
T |
C |
13: 100,444,741 (GRCm39) |
Y239C |
possibly damaging |
Het |
Nckap1 |
C |
A |
2: 80,360,551 (GRCm39) |
D533Y |
probably damaging |
Het |
Ndufs2 |
T |
C |
1: 171,064,185 (GRCm39) |
E375G |
probably damaging |
Het |
Nsd1 |
T |
C |
13: 55,439,097 (GRCm39) |
V1605A |
probably damaging |
Het |
Or4k42 |
A |
G |
2: 111,320,464 (GRCm39) |
I13T |
probably benign |
Het |
Or52ae9 |
C |
A |
7: 103,389,994 (GRCm39) |
R151L |
probably damaging |
Het |
Or5ac17 |
T |
A |
16: 59,036,916 (GRCm39) |
H20L |
probably benign |
Het |
Or5b114-ps1 |
A |
T |
19: 13,352,647 (GRCm39) |
Y107F |
probably benign |
Het |
Or7e176 |
T |
A |
9: 20,171,754 (GRCm39) |
M206K |
probably benign |
Het |
Pcp2 |
G |
A |
8: 3,673,543 (GRCm39) |
|
probably null |
Het |
Pdgfra |
A |
G |
5: 75,334,057 (GRCm39) |
S377G |
probably damaging |
Het |
Reep5 |
A |
T |
18: 34,505,511 (GRCm39) |
Y53* |
probably null |
Het |
Satb1 |
T |
C |
17: 52,082,404 (GRCm39) |
T417A |
possibly damaging |
Het |
Slc1a7 |
T |
A |
4: 107,859,379 (GRCm39) |
M156K |
possibly damaging |
Het |
Slc4a10 |
A |
G |
2: 62,041,789 (GRCm39) |
E123G |
probably damaging |
Het |
Slc66a1 |
A |
G |
4: 139,027,556 (GRCm39) |
V262A |
probably benign |
Het |
Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
Stard13 |
A |
T |
5: 150,965,707 (GRCm39) |
V916E |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 65,082,556 (GRCm39) |
R674G |
possibly damaging |
Het |
Tnfsf11 |
A |
G |
14: 78,545,299 (GRCm39) |
Y11H |
probably damaging |
Het |
Tnr |
T |
A |
1: 159,714,692 (GRCm39) |
V857E |
probably benign |
Het |
Tubgcp5 |
A |
G |
7: 55,456,526 (GRCm39) |
I373V |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,090,160 (GRCm39) |
R414S |
possibly damaging |
Het |
Vmn2r100 |
T |
C |
17: 19,742,576 (GRCm39) |
S317P |
probably benign |
Het |
Wdr49 |
A |
T |
3: 75,230,989 (GRCm39) |
F558I |
probably benign |
Het |
Zfyve16 |
A |
G |
13: 92,648,105 (GRCm39) |
I983T |
probably benign |
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 |
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 |
R6969:Ric1
|
UTSW |
19 |
29,563,182 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AAACTTCAGCAATTCTTGTGTCTCC -3'
(R):5'- GAGGTAGATCTGAGAGGTCCTC -3'
Sequencing Primer
(F):5'- AGCAATTCTTGTGTCTCCTTCAG -3'
(R):5'- GGTCCTCTCCACAACACAGAAGG -3'
|
Posted On |
2017-10-10 |