Incidental Mutation 'R9044:Ric1'
ID |
687955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ric1
|
Ensembl Gene |
ENSMUSG00000038658 |
Gene Name |
RAB6A GEF complex partner 1 |
Synonyms |
C030046E11Rik, C130057E09Rik |
MMRRC Submission |
068871-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
R9044 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 29577294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1066
(A1066V)
|
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: A1066V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043437 Gene: ENSMUSG00000038658 AA Change: A1066V
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 |
|
SMART Domains |
Protein: ENSMUSP00000125709 Gene: ENSMUSG00000038658 AA Change: A87V
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
28 |
N/A |
INTRINSIC |
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124727 Gene: ENSMUSG00000038658 AA Change: A957V
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 |
0.1270 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
Validation Efficiency |
95% (62/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
A |
T |
10: 78,902,314 (GRCm39) |
Y667* |
probably null |
Het |
Acacb |
A |
G |
5: 114,373,578 (GRCm39) |
H1869R |
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,441,748 (GRCm39) |
T950A |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,673,735 (GRCm39) |
L3110Q |
probably damaging |
Het |
Ambra1 |
A |
T |
2: 91,740,434 (GRCm39) |
|
probably benign |
Het |
Brpf3 |
A |
T |
17: 29,025,871 (GRCm39) |
N315Y |
possibly damaging |
Het |
Clxn |
A |
G |
16: 14,738,261 (GRCm39) |
D142G |
probably damaging |
Het |
Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
Cyba |
T |
A |
8: 123,151,630 (GRCm39) |
D189V |
probably benign |
Het |
Dexi |
A |
G |
16: 10,321,385 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,420,247 (GRCm39) |
V156I |
probably benign |
Het |
Drc7 |
T |
C |
8: 95,797,077 (GRCm39) |
V420A |
probably damaging |
Het |
Eef2k |
T |
A |
7: 120,479,584 (GRCm39) |
V167E |
probably damaging |
Het |
Eid2 |
T |
C |
7: 27,968,038 (GRCm39) |
I220T |
possibly damaging |
Het |
Fggy |
A |
C |
4: 95,732,334 (GRCm39) |
T442P |
probably benign |
Het |
Foxi3 |
T |
G |
6: 70,933,683 (GRCm39) |
S57A |
probably benign |
Het |
Foxi3 |
T |
A |
6: 70,934,186 (GRCm39) |
|
probably null |
Het |
Galntl5 |
C |
T |
5: 25,415,326 (GRCm39) |
P286S |
possibly damaging |
Het |
Gm5592 |
A |
G |
7: 40,938,274 (GRCm39) |
K519E |
probably benign |
Het |
Gse1 |
T |
A |
8: 120,957,269 (GRCm39) |
S587T |
unknown |
Het |
Kcns1 |
G |
T |
2: 164,009,996 (GRCm39) |
F254L |
probably damaging |
Het |
Kif15 |
A |
G |
9: 122,840,781 (GRCm39) |
T23A |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,541,577 (GRCm39) |
Q1241R |
possibly damaging |
Het |
Lck |
A |
T |
4: 129,450,098 (GRCm39) |
L205Q |
probably damaging |
Het |
Map9 |
C |
T |
3: 82,287,525 (GRCm39) |
A420V |
possibly damaging |
Het |
Mdm2 |
A |
T |
10: 117,530,960 (GRCm39) |
D170E |
|
Het |
Mllt6 |
T |
A |
11: 97,554,485 (GRCm39) |
C30S |
probably damaging |
Het |
Muc5b |
T |
G |
7: 141,411,795 (GRCm39) |
D1580E |
unknown |
Het |
Oaf |
C |
T |
9: 43,135,308 (GRCm39) |
A157T |
probably damaging |
Het |
Or13a19 |
A |
G |
7: 139,902,485 (GRCm39) |
|
probably benign |
Het |
Or2ab1 |
T |
A |
11: 58,489,126 (GRCm39) |
N295K |
possibly damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Osbp2 |
T |
C |
11: 3,667,128 (GRCm39) |
I8V |
probably damaging |
Het |
Pcdh9 |
T |
C |
14: 94,124,247 (GRCm39) |
Y641C |
probably damaging |
Het |
Phf10 |
A |
T |
17: 15,166,584 (GRCm39) |
C429S |
probably damaging |
Het |
Plekha6 |
C |
G |
1: 133,201,687 (GRCm39) |
P367A |
probably benign |
Het |
Plekha6 |
C |
A |
1: 133,201,688 (GRCm39) |
P367Q |
possibly damaging |
Het |
Plod2 |
T |
A |
9: 92,489,273 (GRCm39) |
I756K |
probably damaging |
Het |
Plxnb2 |
C |
A |
15: 89,044,566 (GRCm39) |
|
probably benign |
Het |
Pop1 |
T |
A |
15: 34,530,554 (GRCm39) |
M1014K |
possibly damaging |
Het |
Prrt4 |
T |
C |
6: 29,171,540 (GRCm39) |
D304G |
probably benign |
Het |
Rcan2 |
C |
A |
17: 44,147,245 (GRCm39) |
L28I |
probably benign |
Het |
Rffl |
C |
T |
11: 82,701,020 (GRCm39) |
V269I |
probably benign |
Het |
Rhox3c |
C |
T |
X: 36,651,303 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,752,989 (GRCm39) |
Y1777* |
probably null |
Het |
Scart2 |
G |
T |
7: 139,828,010 (GRCm39) |
G73C |
probably damaging |
Het |
Sh3tc1 |
T |
G |
5: 35,854,834 (GRCm39) |
K1288Q |
possibly damaging |
Het |
Slc10a5 |
A |
C |
3: 10,399,792 (GRCm39) |
I289M |
probably damaging |
Het |
Slc16a9 |
A |
G |
10: 70,110,797 (GRCm39) |
T128A |
probably benign |
Het |
Slc7a11 |
T |
C |
3: 50,333,632 (GRCm39) |
H373R |
probably benign |
Het |
Spesp1 |
A |
G |
9: 62,180,623 (GRCm39) |
I95T |
probably benign |
Het |
Sra1 |
C |
T |
18: 36,800,946 (GRCm39) |
V131I |
probably benign |
Het |
Stxbp5l |
A |
G |
16: 37,024,930 (GRCm39) |
V556A |
possibly damaging |
Het |
Sycp2 |
T |
C |
2: 177,989,617 (GRCm39) |
E1414G |
probably damaging |
Het |
Trac |
A |
T |
14: 54,458,148 (GRCm39) |
K57* |
probably null |
Het |
Trps1 |
T |
C |
15: 50,686,003 (GRCm39) |
E724G |
probably benign |
Het |
Tubgcp6 |
T |
G |
15: 88,987,397 (GRCm39) |
D1192A |
possibly damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vps18 |
T |
G |
2: 119,128,034 (GRCm39) |
I952M |
probably damaging |
Het |
Wdr36 |
T |
C |
18: 32,970,499 (GRCm39) |
F20S |
probably damaging |
Het |
Wdr62 |
C |
A |
7: 29,962,062 (GRCm39) |
R450L |
probably benign |
Het |
Xab2 |
T |
C |
8: 3,668,641 (GRCm39) |
K76E |
probably benign |
Het |
Zpr1 |
A |
G |
9: 46,190,995 (GRCm39) |
D300G |
probably damaging |
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 |
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 |
|
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'- GTGCTGCATGTTTACTAGGC -3'
(R):5'- GAAGTGGCCACAGGAAATCC -3'
Sequencing Primer
(F):5'- AAGGCCCCGGAGCTTTTC -3'
(R):5'- TGGCCACAGGAAATCCTTGTG -3'
|
Posted On |
2021-11-19 |