Incidental Mutation 'R9733:Ric1'
| ID |
731591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ric1
|
| Ensembl Gene |
ENSMUSG00000038658 |
| Gene Name |
RAB6A GEF complex partner 1 |
| Synonyms |
C030046E11Rik, C130057E09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.457)
|
| Stock # |
R9733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29580030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1277
(D1277G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043610
AA Change: D1277G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: D1277G
| 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: D298G
| 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: D1168G
| 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: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
C |
T |
14: 15,712,825 (GRCm39) |
|
probably benign |
Het |
| 4930595D18Rik |
T |
A |
12: 111,128,254 (GRCm39) |
|
probably benign |
Het |
| Adam34l |
T |
C |
8: 44,079,186 (GRCm39) |
N346S |
possibly damaging |
Het |
| Alpi |
C |
T |
1: 87,028,516 (GRCm39) |
A125T |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,014,957 (GRCm39) |
H468L |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,901,294 (GRCm39) |
L836* |
probably null |
Het |
| Arv1 |
T |
C |
8: 125,458,658 (GRCm39) |
Y261H |
probably damaging |
Het |
| Atf6 |
C |
T |
1: 170,662,402 (GRCm39) |
S286N |
probably benign |
Het |
| Atl3 |
G |
A |
19: 7,509,705 (GRCm39) |
G478R |
probably damaging |
Het |
| Avil |
C |
T |
10: 126,843,711 (GRCm39) |
R184C |
probably damaging |
Het |
| Bcl6b |
A |
G |
11: 70,119,323 (GRCm39) |
I131T |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,102,732 (GRCm39) |
M1437K |
|
Het |
| Catsper3 |
T |
C |
13: 55,946,752 (GRCm39) |
S150P |
probably damaging |
Het |
| Cd7 |
A |
G |
11: 120,928,637 (GRCm39) |
S132P |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,016,533 (GRCm39) |
D1142G |
probably damaging |
Het |
| Clca4b |
T |
G |
3: 144,621,272 (GRCm39) |
K601Q |
probably benign |
Het |
| Cp |
A |
G |
3: 20,033,126 (GRCm39) |
H651R |
probably damaging |
Het |
| Cyp2s1 |
T |
A |
7: 25,507,529 (GRCm39) |
T307S |
probably damaging |
Het |
| Dcaf11 |
A |
G |
14: 55,803,170 (GRCm39) |
D328G |
probably damaging |
Het |
| Eapp |
A |
T |
12: 54,739,741 (GRCm39) |
S25R |
probably damaging |
Het |
| Ebag9 |
T |
A |
15: 44,491,033 (GRCm39) |
|
probably null |
Het |
| Exog |
G |
A |
9: 119,291,586 (GRCm39) |
E288K |
possibly damaging |
Het |
| Fads2 |
A |
T |
19: 10,047,940 (GRCm39) |
Y265N |
probably damaging |
Het |
| Fam234b |
T |
A |
6: 135,194,008 (GRCm39) |
S220R |
possibly damaging |
Het |
| Fcgbp |
T |
A |
7: 27,803,012 (GRCm39) |
C1539S |
probably damaging |
Het |
| Fcsk |
T |
C |
8: 111,615,563 (GRCm39) |
T589A |
probably benign |
Het |
| Fv1 |
C |
T |
4: 147,954,621 (GRCm39) |
R396W |
probably damaging |
Het |
| Fv1 |
T |
C |
4: 147,954,654 (GRCm39) |
F407L |
probably benign |
Het |
| Glp2r |
T |
C |
11: 67,648,367 (GRCm39) |
T112A |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,262,011 (GRCm39) |
I2704T |
probably benign |
Het |
| Ighm |
T |
A |
12: 113,386,097 (GRCm39) |
E84D |
probably benign |
Het |
| Ikzf5 |
A |
G |
7: 130,994,012 (GRCm39) |
V205A |
probably benign |
Het |
| Kcnt1 |
G |
T |
2: 25,797,351 (GRCm39) |
V844L |
probably benign |
Het |
| Kif2a |
A |
C |
13: 107,106,304 (GRCm39) |
S528R |
probably damaging |
Het |
| Klhl29 |
G |
A |
12: 5,190,641 (GRCm39) |
T118M |
probably damaging |
Het |
| Krt4 |
C |
A |
15: 101,827,564 (GRCm39) |
G492C |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,116,940 (GRCm39) |
I2441N |
|
Het |
| Lin7a |
T |
C |
10: 107,247,905 (GRCm39) |
V192A |
possibly damaging |
Het |
| Marchf8 |
T |
A |
6: 116,378,990 (GRCm39) |
V308D |
probably damaging |
Het |
| Mgat5b |
T |
C |
11: 116,838,074 (GRCm39) |
S238P |
possibly damaging |
Het |
| Mrps25 |
A |
G |
6: 92,155,715 (GRCm39) |
S73P |
probably damaging |
Het |
| Muc6 |
G |
T |
7: 141,216,310 (GRCm39) |
P2788T |
unknown |
Het |
| Ncf1 |
T |
C |
5: 134,250,899 (GRCm39) |
T347A |
probably benign |
Het |
| Ndufaf4 |
T |
C |
4: 24,903,177 (GRCm39) |
M122T |
probably benign |
Het |
| Nfil3 |
C |
T |
13: 53,121,591 (GRCm39) |
A438T |
probably damaging |
Het |
| Noc2l |
T |
G |
4: 156,328,022 (GRCm39) |
I504S |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,166,955 (GRCm39) |
C735R |
probably damaging |
Het |
| Or10g6 |
A |
T |
9: 39,934,171 (GRCm39) |
S161C |
probably benign |
Het |
| Or2y10 |
T |
C |
11: 49,454,961 (GRCm39) |
L71P |
probably damaging |
Het |
| Or5d38 |
C |
A |
2: 87,955,000 (GRCm39) |
V110L |
probably damaging |
Het |
| Or6b9 |
A |
C |
7: 106,555,846 (GRCm39) |
L99R |
possibly damaging |
Het |
| Pcdhac1 |
A |
G |
18: 37,225,506 (GRCm39) |
H773R |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,237,314 (GRCm39) |
V1324A |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,158,034 (GRCm39) |
Y568C |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,219,040 (GRCm39) |
M197K |
probably damaging |
Het |
| Plekho1 |
C |
T |
3: 95,903,091 (GRCm39) |
G7S |
probably benign |
Het |
| Pramel17 |
A |
G |
4: 101,692,965 (GRCm39) |
V345A |
possibly damaging |
Het |
| Prl7d1 |
A |
C |
13: 27,898,339 (GRCm39) |
S57A |
probably benign |
Het |
| Prpf3 |
A |
G |
3: 95,741,512 (GRCm39) |
V548A |
possibly damaging |
Het |
| Prss56 |
C |
T |
1: 87,111,219 (GRCm39) |
P2L |
possibly damaging |
Het |
| Rnf19b |
T |
A |
4: 128,977,812 (GRCm39) |
D676E |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,100,521 (GRCm39) |
T126S |
probably benign |
Het |
| Sh3gl3 |
T |
C |
7: 81,917,562 (GRCm39) |
|
probably null |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc35f2 |
T |
C |
9: 53,708,385 (GRCm39) |
V126A |
probably benign |
Het |
| Snrnp200 |
A |
T |
2: 127,068,240 (GRCm39) |
Q860L |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,422,711 (GRCm39) |
N435S |
probably damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,214 (GRCm39) |
S349P |
possibly damaging |
Het |
| Tie1 |
A |
T |
4: 118,330,183 (GRCm39) |
W1040R |
probably null |
Het |
| Tnni3k |
A |
T |
3: 154,562,244 (GRCm39) |
Y678N |
probably damaging |
Het |
| Trav12-3 |
T |
C |
14: 53,859,474 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,576,379 (GRCm39) |
S24838L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,725,660 (GRCm39) |
W6158R |
unknown |
Het |
| Vegfa |
T |
C |
17: 46,335,401 (GRCm39) |
S298G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,997,643 (GRCm39) |
K421R |
probably benign |
Het |
| Zfp959 |
C |
A |
17: 56,204,866 (GRCm39) |
T301N |
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 |
|
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 |
|
X0064:Ric1
|
UTSW |
19 |
29,565,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCTCAGGTCCAGCTTCG -3'
(R):5'- AAGCCATCATTCGCCAAAGG -3'
Sequencing Primer
(F):5'- CAGCTTCGGTGAGTGTCTCC -3'
(R):5'- CCATGCTTATTATGGAAAGCAGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation