Incidental Mutation 'R6345:Ric1'
ID |
514137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ric1
|
Ensembl Gene |
ENSMUSG00000038658 |
Gene Name |
RAB6A GEF complex partner 1 |
Synonyms |
C030046E11Rik, C130057E09Rik |
MMRRC Submission |
044499-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
R6345 (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 29581485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1402
(D1402G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
[ENSMUST00000159692]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043610
AA Change: D1402G
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000043437 Gene: ENSMUSG00000038658 AA Change: D1402G
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: ENSMUST00000159692
|
SMART Domains |
Protein: ENSMUSP00000124881 Gene: ENSMUSG00000046324
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
26 |
N/A |
INTRINSIC |
low complexity region
|
65 |
94 |
N/A |
INTRINSIC |
Pfam:Peptidase_M28
|
179 |
373 |
1.3e-49 |
PFAM |
Pfam:Peptidase_M20
|
184 |
375 |
2.9e-8 |
PFAM |
transmembrane domain
|
405 |
427 |
N/A |
INTRINSIC |
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
transmembrane domain
|
481 |
503 |
N/A |
INTRINSIC |
transmembrane domain
|
516 |
538 |
N/A |
INTRINSIC |
transmembrane domain
|
543 |
562 |
N/A |
INTRINSIC |
transmembrane domain
|
575 |
597 |
N/A |
INTRINSIC |
transmembrane domain
|
617 |
639 |
N/A |
INTRINSIC |
transmembrane domain
|
646 |
668 |
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 |
unknown
Transcript: ENSMUST00000161330
AA Change: D423G
|
SMART Domains |
Protein: ENSMUSP00000125709 Gene: ENSMUSG00000038658 AA Change: D423G
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 |
noncoding transcript
Transcript: ENSMUST00000161749
|
Predicted Effect |
unknown
Transcript: ENSMUST00000162492
AA Change: D1293G
|
SMART Domains |
Protein: ENSMUSP00000124727 Gene: ENSMUSG00000038658 AA Change: D1293G
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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,061,913 (GRCm39) |
I121T |
probably benign |
Het |
4921524L21Rik |
T |
A |
18: 6,626,399 (GRCm39) |
M137K |
possibly damaging |
Het |
Angpt4 |
C |
A |
2: 151,771,354 (GRCm39) |
N223K |
probably benign |
Het |
Ankrd6 |
T |
C |
4: 32,810,266 (GRCm39) |
R437G |
probably damaging |
Het |
Atp9a |
C |
T |
2: 168,518,093 (GRCm39) |
S264N |
probably damaging |
Het |
AY358078 |
A |
C |
14: 52,063,749 (GRCm39) |
Y465S |
probably damaging |
Het |
Bin3 |
G |
A |
14: 70,374,676 (GRCm39) |
R235Q |
probably benign |
Het |
Bsn |
G |
A |
9: 107,984,554 (GRCm39) |
P3167S |
unknown |
Het |
Camk2g |
G |
A |
14: 20,787,443 (GRCm39) |
R274C |
probably damaging |
Het |
Ccdc61 |
A |
T |
7: 18,643,914 (GRCm39) |
|
probably null |
Het |
Ccnjl |
A |
T |
11: 43,476,165 (GRCm39) |
T263S |
probably benign |
Het |
Col17a1 |
G |
T |
19: 47,641,818 (GRCm39) |
P944T |
possibly damaging |
Het |
Cyp2c39 |
A |
T |
19: 39,501,615 (GRCm39) |
|
probably null |
Het |
Cyp2c39 |
G |
T |
19: 39,501,616 (GRCm39) |
|
probably null |
Het |
Cyp4a32 |
T |
C |
4: 115,459,560 (GRCm39) |
V98A |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,928,519 (GRCm39) |
V2050A |
probably damaging |
Het |
F5 |
A |
G |
1: 164,019,520 (GRCm39) |
N665S |
probably benign |
Het |
Fbxl6 |
A |
T |
15: 76,420,054 (GRCm39) |
C520S |
probably damaging |
Het |
Fscn2 |
C |
A |
11: 120,252,853 (GRCm39) |
H107N |
probably damaging |
Het |
Gfm2 |
C |
T |
13: 97,299,461 (GRCm39) |
T367M |
probably damaging |
Het |
Gle1 |
C |
G |
2: 29,826,127 (GRCm39) |
P69A |
probably benign |
Het |
Gpr156 |
A |
T |
16: 37,807,881 (GRCm39) |
D176V |
probably damaging |
Het |
Grip2 |
A |
G |
6: 91,742,369 (GRCm39) |
S895P |
possibly damaging |
Het |
Hfm1 |
C |
T |
5: 106,989,504 (GRCm39) |
G1404D |
probably benign |
Het |
Ifit1bl1 |
G |
A |
19: 34,571,570 (GRCm39) |
R296* |
probably null |
Het |
Ighv1-39 |
C |
T |
12: 114,878,479 (GRCm39) |
V31M |
possibly damaging |
Het |
Itgav |
A |
G |
2: 83,632,380 (GRCm39) |
E956G |
probably damaging |
Het |
Katnip |
C |
A |
7: 125,352,159 (GRCm39) |
D26E |
probably damaging |
Het |
Lsm8 |
A |
G |
6: 18,853,644 (GRCm39) |
D86G |
probably damaging |
Het |
Mdh1b |
T |
G |
1: 63,754,398 (GRCm39) |
H390P |
possibly damaging |
Het |
Mtrf1l |
A |
T |
10: 5,767,468 (GRCm39) |
I216N |
possibly damaging |
Het |
Muc16 |
G |
A |
9: 18,566,222 (GRCm39) |
T2099I |
unknown |
Het |
Myh7 |
T |
C |
14: 55,221,149 (GRCm39) |
R925G |
probably damaging |
Het |
Myo1h |
T |
A |
5: 114,489,769 (GRCm39) |
I658N |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,097,195 (GRCm39) |
D81V |
possibly damaging |
Het |
Nell1 |
G |
A |
7: 49,625,171 (GRCm39) |
C12Y |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,944,522 (GRCm39) |
Y4724C |
probably damaging |
Het |
Or8k53 |
A |
G |
2: 86,177,892 (GRCm39) |
Y73H |
probably damaging |
Het |
Pah |
G |
A |
10: 87,412,049 (GRCm39) |
D315N |
probably damaging |
Het |
Per2 |
A |
G |
1: 91,376,444 (GRCm39) |
V143A |
probably damaging |
Het |
Plcxd1 |
T |
C |
5: 110,248,165 (GRCm39) |
V38A |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,184,896 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,883,215 (GRCm39) |
N761S |
probably benign |
Het |
Polh |
T |
C |
17: 46,493,664 (GRCm39) |
I318V |
probably benign |
Het |
Prex1 |
T |
C |
2: 166,414,880 (GRCm39) |
Q1323R |
probably null |
Het |
Rb1cc1 |
T |
A |
1: 6,333,481 (GRCm39) |
S1440T |
probably benign |
Het |
Rbm19 |
G |
T |
5: 120,265,105 (GRCm39) |
W382L |
possibly damaging |
Het |
Rchy1 |
T |
C |
5: 92,105,801 (GRCm39) |
D49G |
probably benign |
Het |
S1pr3 |
G |
T |
13: 51,573,067 (GRCm39) |
A83S |
probably damaging |
Het |
S1pr3 |
C |
A |
13: 51,573,068 (GRCm39) |
A83D |
probably damaging |
Het |
Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
Serpinb9c |
T |
C |
13: 33,333,978 (GRCm39) |
R355G |
probably damaging |
Het |
Slx4 |
G |
C |
16: 3,808,714 (GRCm39) |
Q409E |
probably benign |
Het |
Sntg1 |
A |
C |
1: 8,653,508 (GRCm39) |
L243R |
possibly damaging |
Het |
Specc1l |
G |
T |
10: 75,084,322 (GRCm39) |
D682Y |
probably damaging |
Het |
Spen |
C |
T |
4: 141,198,944 (GRCm39) |
V3228I |
possibly damaging |
Het |
Strip1 |
T |
C |
3: 107,535,516 (GRCm39) |
E69G |
probably damaging |
Het |
Tasp1 |
C |
A |
2: 139,793,457 (GRCm39) |
V240L |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 112,001,042 (GRCm39) |
F787L |
probably damaging |
Het |
Vmn1r228 |
A |
G |
17: 20,997,144 (GRCm39) |
S125P |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,489,379 (GRCm39) |
M718T |
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 |
|
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'- TTTACTCAGCCCTGGATATAAGC -3'
(R):5'- GAGTTCTGACCCAAGTTCTTTTACC -3'
Sequencing Primer
(F):5'- ACAACTGCAGAAGCTCAGTG -3'
(R):5'- ACCTGTTAAGTCATTCGGCAG -3'
|
Posted On |
2018-04-27 |