Incidental Mutation 'IGL02718:Ric1'
ID |
304869 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ric1
|
Ensembl Gene |
ENSMUSG00000038658 |
Gene Name |
RAB6A GEF complex partner 1 |
Synonyms |
C030046E11Rik, C130057E09Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
IGL02718
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29510640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 74
(W74R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
[ENSMUST00000162184]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043610
AA Change: W74R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043437 Gene: ENSMUSG00000038658 AA Change: W74R
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 damaging
Transcript: ENSMUST00000162184
AA Change: W74R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000162492
AA Change: W2R
|
SMART Domains |
Protein: ENSMUSP00000124727 Gene: ENSMUSG00000038658 AA Change: W2R
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002J24Rik |
A |
G |
7: 30,399,329 (GRCm39) |
D41G |
probably damaging |
Het |
2210408I21Rik |
T |
A |
13: 77,322,991 (GRCm39) |
Y7N |
probably damaging |
Het |
Atf1 |
C |
A |
15: 100,152,100 (GRCm39) |
Q151K |
probably damaging |
Het |
Brdt |
T |
C |
5: 107,497,934 (GRCm39) |
|
probably benign |
Het |
Cep295 |
T |
C |
9: 15,237,049 (GRCm39) |
|
probably null |
Het |
Ctnnd2 |
A |
G |
15: 31,027,762 (GRCm39) |
S1229G |
probably damaging |
Het |
Dcaf15 |
T |
A |
8: 84,825,005 (GRCm39) |
I476L |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,966,354 (GRCm39) |
I1108V |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,777,466 (GRCm39) |
H3694L |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,501,535 (GRCm39) |
D1838E |
probably benign |
Het |
Dusp12 |
A |
T |
1: 170,708,226 (GRCm39) |
Y164N |
probably damaging |
Het |
Ephx1 |
A |
G |
1: 180,827,351 (GRCm39) |
F101L |
probably damaging |
Het |
Fbn1 |
C |
A |
2: 125,211,806 (GRCm39) |
C864F |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,453,858 (GRCm39) |
E96G |
possibly damaging |
Het |
Glt1d1 |
C |
A |
5: 127,727,763 (GRCm39) |
F78L |
probably damaging |
Het |
Gm9602 |
A |
T |
14: 15,932,620 (GRCm39) |
R21* |
probably null |
Het |
Grip1 |
T |
A |
10: 119,911,420 (GRCm39) |
*713K |
probably null |
Het |
Hecw1 |
T |
C |
13: 14,481,520 (GRCm39) |
|
probably null |
Het |
Il31ra |
G |
A |
13: 112,666,903 (GRCm39) |
R392* |
probably null |
Het |
L3hypdh |
T |
G |
12: 72,131,630 (GRCm39) |
S101R |
probably damaging |
Het |
Lpar5 |
T |
A |
6: 125,059,207 (GRCm39) |
D309E |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,295,043 (GRCm39) |
Y406C |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,303,439 (GRCm39) |
I166M |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,539,483 (GRCm39) |
Y2759* |
probably null |
Het |
Ncf1 |
A |
T |
5: 134,256,302 (GRCm39) |
|
probably null |
Het |
Nek5 |
T |
G |
8: 22,587,479 (GRCm39) |
R314S |
probably benign |
Het |
Nifk |
A |
C |
1: 118,255,362 (GRCm39) |
N38T |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,968,684 (GRCm39) |
V2772M |
probably damaging |
Het |
Or10g9 |
A |
T |
9: 39,912,182 (GRCm39) |
Y114N |
probably damaging |
Het |
Or10z1 |
G |
T |
1: 174,078,273 (GRCm39) |
Y73* |
probably null |
Het |
Or2b28 |
T |
C |
13: 21,531,554 (GRCm39) |
L152P |
probably damaging |
Het |
Or2d3 |
A |
T |
7: 106,490,536 (GRCm39) |
M260K |
probably damaging |
Het |
Or52r1c |
C |
A |
7: 102,734,790 (GRCm39) |
L22I |
probably benign |
Het |
Or5k17 |
T |
C |
16: 58,746,459 (GRCm39) |
I158M |
possibly damaging |
Het |
Pbxip1 |
A |
G |
3: 89,355,311 (GRCm39) |
E610G |
probably damaging |
Het |
Pfas |
G |
T |
11: 68,890,971 (GRCm39) |
|
probably benign |
Het |
Plk4 |
T |
C |
3: 40,769,456 (GRCm39) |
S102P |
probably damaging |
Het |
Ptprz1 |
C |
T |
6: 23,001,348 (GRCm39) |
T1146I |
possibly damaging |
Het |
Pum2 |
T |
A |
12: 8,783,344 (GRCm39) |
S598T |
probably benign |
Het |
Riok3 |
C |
A |
18: 12,286,053 (GRCm39) |
S427* |
probably null |
Het |
Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
Sfmbt2 |
A |
G |
2: 10,406,842 (GRCm39) |
D47G |
possibly damaging |
Het |
Slc12a1 |
C |
T |
2: 125,002,999 (GRCm39) |
R177* |
probably null |
Het |
Snai3 |
C |
A |
8: 123,182,861 (GRCm39) |
|
probably null |
Het |
Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
Soat1 |
A |
T |
1: 156,268,999 (GRCm39) |
S151T |
probably benign |
Het |
Spmip4 |
G |
T |
6: 50,561,367 (GRCm39) |
T184K |
probably damaging |
Het |
Stbd1 |
A |
G |
5: 92,751,077 (GRCm39) |
E37G |
possibly damaging |
Het |
Syt10 |
A |
G |
15: 89,698,282 (GRCm39) |
I354T |
probably damaging |
Het |
Trip11 |
A |
C |
12: 101,852,284 (GRCm39) |
S593R |
probably benign |
Het |
Ubr1 |
T |
C |
2: 120,745,364 (GRCm39) |
E908G |
probably damaging |
Het |
Yy1 |
T |
C |
12: 108,781,405 (GRCm39) |
F357L |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |