Incidental Mutation 'R6371:Ric1'
ID |
513549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ric1
|
Ensembl Gene |
ENSMUSG00000038658 |
Gene Name |
RAB6A GEF complex partner 1 |
Synonyms |
C030046E11Rik, C130057E09Rik |
MMRRC Submission |
044521-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
R6371 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29539426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 53
(E53G)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
[ENSMUST00000162184]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043610
AA Change: E125G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000043437 Gene: ENSMUSG00000038658 AA Change: E125G
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 |
noncoding transcript
Transcript: ENSMUST00000160221
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162184
AA Change: E125G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162492
AA Change: E53G
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124727 Gene: ENSMUSG00000038658 AA Change: E53G
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 |
0.0868 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
C |
T |
12: 113,453,894 (GRCm39) |
S237L |
probably damaging |
Het |
Ank3 |
T |
G |
10: 69,644,709 (GRCm39) |
L58V |
probably damaging |
Het |
Arsb |
A |
T |
13: 93,926,574 (GRCm39) |
I115F |
possibly damaging |
Het |
Atad2b |
T |
C |
12: 5,023,970 (GRCm39) |
Y32H |
probably damaging |
Het |
Brd1 |
A |
C |
15: 88,598,201 (GRCm39) |
M515R |
probably benign |
Het |
Cbx7 |
A |
G |
15: 79,803,023 (GRCm39) |
S30P |
possibly damaging |
Het |
Cdk12 |
A |
G |
11: 98,136,114 (GRCm39) |
T1123A |
unknown |
Het |
Cep170b |
A |
G |
12: 112,707,379 (GRCm39) |
D375G |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,390,369 (GRCm39) |
K164E |
probably benign |
Het |
Clip4 |
A |
C |
17: 72,163,459 (GRCm39) |
K677T |
probably damaging |
Het |
Clrn2 |
T |
C |
5: 45,617,540 (GRCm39) |
I137T |
possibly damaging |
Het |
Cntln |
T |
C |
4: 84,802,816 (GRCm39) |
S39P |
probably damaging |
Het |
Crocc2 |
T |
A |
1: 93,143,353 (GRCm39) |
N1318K |
probably benign |
Het |
Emc1 |
C |
T |
4: 139,098,976 (GRCm39) |
Q820* |
probably null |
Het |
Fbxl2 |
G |
A |
9: 113,818,451 (GRCm39) |
T170I |
probably damaging |
Het |
Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
Garin5b |
A |
G |
7: 4,762,358 (GRCm39) |
V257A |
probably benign |
Het |
Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,269,006 (GRCm39) |
Y2213H |
probably damaging |
Het |
Ifnar2 |
T |
C |
16: 91,184,986 (GRCm39) |
Y24H |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
Itgb2 |
C |
A |
10: 77,384,431 (GRCm39) |
P184H |
probably damaging |
Het |
Kcnb2 |
T |
A |
1: 15,781,436 (GRCm39) |
D769E |
probably benign |
Het |
Lrp1b |
A |
G |
2: 40,741,666 (GRCm39) |
M3087T |
possibly damaging |
Het |
Ltbp3 |
A |
G |
19: 5,795,800 (GRCm39) |
|
probably null |
Het |
Ms4a6b |
A |
G |
19: 11,497,728 (GRCm39) |
E9G |
probably damaging |
Het |
Nat3 |
G |
A |
8: 67,976,831 (GRCm39) |
|
probably null |
Het |
Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
Nop58 |
T |
G |
1: 59,750,471 (GRCm39) |
|
probably benign |
Het |
Or10al6 |
A |
G |
17: 38,083,326 (GRCm39) |
T261A |
probably benign |
Het |
Or8s16 |
A |
G |
15: 98,211,219 (GRCm39) |
Y71H |
possibly damaging |
Het |
P3h4 |
C |
T |
11: 100,302,575 (GRCm39) |
E354K |
probably benign |
Het |
Plekhm2 |
T |
G |
4: 141,356,843 (GRCm39) |
T787P |
possibly damaging |
Het |
Ppia |
C |
T |
11: 6,368,230 (GRCm39) |
T37I |
probably benign |
Het |
Reln |
T |
A |
5: 22,200,511 (GRCm39) |
M1330L |
probably benign |
Het |
Sgip1 |
T |
A |
4: 102,823,482 (GRCm39) |
V721E |
probably damaging |
Het |
Slc33a1 |
A |
T |
3: 63,850,709 (GRCm39) |
D538E |
probably benign |
Het |
Son |
T |
C |
16: 91,471,629 (GRCm39) |
|
|
Het |
Srebf1 |
A |
T |
11: 60,094,341 (GRCm39) |
S591R |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Taok2 |
G |
A |
7: 126,469,319 (GRCm39) |
R1170W |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,845,688 (GRCm39) |
V210E |
probably benign |
Het |
Ttc6 |
T |
A |
12: 57,775,249 (GRCm39) |
N1648K |
possibly damaging |
Het |
Vgll3 |
C |
T |
16: 65,636,131 (GRCm39) |
P94L |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,349,362 (GRCm39) |
V740E |
probably damaging |
Het |
Yeats2 |
A |
G |
16: 20,040,460 (GRCm39) |
E1127G |
possibly damaging |
Het |
Zfp709 |
T |
A |
8: 72,643,329 (GRCm39) |
Y252N |
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 |
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'- TGCGTATGGAATGAAACATTGC -3'
(R):5'- TCCAAGAAACACATGGAGGC -3'
Sequencing Primer
(F):5'- CCTAGGTAGGAAAGCACTCTTAGTC -3'
(R):5'- AACACATGGAGGCTGCAG -3'
|
Posted On |
2018-04-27 |