Incidental Mutation 'R6924:Ric1'
| ID |
539817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ric1
|
| Ensembl Gene |
ENSMUSG00000038658 |
| Gene Name |
RAB6A GEF complex partner 1 |
| Synonyms |
C030046E11Rik, C130057E09Rik |
| MMRRC Submission |
045042-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.501)
|
| Stock # |
R6924 (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 A
at 29546788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 256
(V256D)
|
| 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: V256D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: V256D
| 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: V184D
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
C |
4: 39,450,884 (GRCm39) |
H30P |
probably damaging |
Het |
| Abhd6 |
A |
T |
14: 8,049,850 (GRCm38) |
H213L |
possibly damaging |
Het |
| Adam22 |
T |
A |
5: 8,417,322 (GRCm39) |
N40I |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,231,224 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
C |
T |
2: 158,369,066 (GRCm39) |
R63C |
probably benign |
Het |
| Atf7ip |
T |
G |
6: 136,536,755 (GRCm39) |
|
probably null |
Het |
| Atg7 |
T |
C |
6: 114,686,172 (GRCm39) |
|
probably null |
Het |
| Car6 |
A |
C |
4: 150,273,713 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,259,667 (GRCm39) |
C302* |
probably null |
Het |
| Ccdc117 |
A |
T |
11: 5,484,255 (GRCm39) |
M195K |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,702,023 (GRCm39) |
M383T |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,638,643 (GRCm39) |
E419G |
probably damaging |
Het |
| Cyp2d9 |
C |
G |
15: 82,339,413 (GRCm39) |
R272G |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,546,244 (GRCm39) |
M1380K |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,455,517 (GRCm39) |
S881G |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,793,248 (GRCm39) |
I1084N |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,878,981 (GRCm39) |
C21* |
probably null |
Het |
| Gemin4 |
A |
G |
11: 76,103,162 (GRCm39) |
L533P |
probably damaging |
Het |
| Gkn3 |
T |
C |
6: 87,365,784 (GRCm39) |
R12G |
probably benign |
Het |
| Gpr161 |
G |
T |
1: 165,149,188 (GRCm39) |
R519L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,481,092 (GRCm39) |
V535A |
possibly damaging |
Het |
| Gys1 |
G |
A |
7: 45,093,059 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
C |
T |
5: 106,998,276 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,240,517 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,808,873 (GRCm39) |
Y738H |
unknown |
Het |
| Hycc1 |
T |
C |
5: 24,191,133 (GRCm39) |
|
probably null |
Het |
| Igsf23 |
A |
G |
7: 19,675,684 (GRCm39) |
S141P |
possibly damaging |
Het |
| Lamc3 |
A |
C |
2: 31,828,081 (GRCm39) |
M1423L |
probably benign |
Het |
| Lcmt2 |
T |
C |
2: 120,970,484 (GRCm39) |
T200A |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,784 (GRCm39) |
V899A |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,421,145 (GRCm39) |
R36S |
possibly damaging |
Het |
| Mrgprb8 |
A |
G |
7: 48,038,871 (GRCm39) |
K181E |
possibly damaging |
Het |
| Muc2 |
G |
A |
7: 141,284,077 (GRCm39) |
V786M |
possibly damaging |
Het |
| Nacc2 |
T |
C |
2: 25,980,041 (GRCm39) |
T132A |
probably damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,250,774 (GRCm39) |
I15K |
probably damaging |
Het |
| Or10p22 |
T |
G |
10: 128,825,960 (GRCm39) |
Y60D |
probably damaging |
Het |
| Or4k15c |
A |
G |
14: 50,321,307 (GRCm39) |
I277T |
possibly damaging |
Het |
| Otoa |
A |
T |
7: 120,730,724 (GRCm39) |
|
probably null |
Het |
| Otogl |
A |
G |
10: 107,644,502 (GRCm39) |
I1248T |
probably damaging |
Het |
| Ppp1r17 |
T |
A |
6: 56,003,007 (GRCm39) |
D32E |
probably damaging |
Het |
| Relt |
A |
C |
7: 100,496,468 (GRCm39) |
V427G |
probably damaging |
Het |
| Samhd1 |
T |
C |
2: 156,951,403 (GRCm39) |
T445A |
probably benign |
Het |
| Sepsecs |
T |
C |
5: 52,821,646 (GRCm39) |
I189V |
probably benign |
Het |
| Shroom3 |
T |
A |
5: 93,112,262 (GRCm39) |
D1793E |
probably damaging |
Het |
| Sim1 |
C |
T |
10: 50,784,635 (GRCm39) |
T137I |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,800,218 (GRCm39) |
D253E |
possibly damaging |
Het |
| Stmnd1 |
T |
C |
13: 46,452,969 (GRCm39) |
V215A |
probably benign |
Het |
| Tcl1 |
A |
G |
12: 105,185,015 (GRCm39) |
L65P |
probably damaging |
Het |
| Tiam2 |
A |
C |
17: 3,558,070 (GRCm39) |
K1231N |
probably damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,206,717 (GRCm39) |
Y476C |
probably damaging |
Het |
| Trim63 |
T |
C |
4: 134,048,572 (GRCm39) |
S194P |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,379 (GRCm39) |
I59N |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,613,198 (GRCm39) |
F7S |
probably benign |
Het |
| Zfp775 |
T |
A |
6: 48,596,589 (GRCm39) |
H154Q |
probably damaging |
Het |
| Zfp804b |
C |
T |
5: 6,819,902 (GRCm39) |
V1018I |
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 |
|
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 |
|
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'- TCTCAGCTTCTAACTCGAATGC -3'
(R):5'- GTGGGAAATCAGTTCTTTACCTTTG -3'
Sequencing Primer
(F):5'- CTTTGTGAGAAATTTCTTATGCAGG -3'
(R):5'- AGGCATAATCAGGTACCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation