Incidental Mutation 'IGL02123:Ric1'
| ID |
280734 |
| 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 # |
IGL02123
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29572200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 665
(A665V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043610
AA Change: A665V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: A665V
| 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 |
probably benign
Transcript: ENSMUST00000161330
|
| SMART Domains |
Protein: ENSMUSP00000125709
Gene: ENSMUSG00000038658
| 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 |
unknown
Transcript: ENSMUST00000162492
AA Change: A556V
|
| SMART Domains |
Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: A556V
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
T |
C |
7: 28,328,914 (GRCm39) |
T31A |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,401,766 (GRCm39) |
V429A |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cldn11 |
C |
T |
3: 31,204,336 (GRCm39) |
T13M |
probably benign |
Het |
| Cngb3 |
C |
A |
4: 19,367,801 (GRCm39) |
Q237K |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,569,740 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,939,695 (GRCm39) |
L621H |
probably damaging |
Het |
| Dbn1 |
T |
C |
13: 55,624,553 (GRCm39) |
D332G |
possibly damaging |
Het |
| Drc1 |
T |
C |
5: 30,504,448 (GRCm39) |
S197P |
probably benign |
Het |
| E2f2 |
A |
G |
4: 135,900,159 (GRCm39) |
N23S |
probably benign |
Het |
| Epb41l2 |
T |
A |
10: 25,336,742 (GRCm39) |
L246H |
probably damaging |
Het |
| Fam13b |
G |
A |
18: 34,578,671 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
A |
G |
5: 45,796,493 (GRCm39) |
M30T |
possibly damaging |
Het |
| Fn3krp |
G |
A |
11: 121,320,270 (GRCm39) |
R205H |
probably benign |
Het |
| Fndc11 |
A |
G |
2: 180,863,443 (GRCm39) |
I83V |
probably benign |
Het |
| Garin2 |
T |
C |
12: 78,780,981 (GRCm39) |
|
probably null |
Het |
| Gm3629 |
C |
T |
14: 17,834,541 (GRCm39) |
R150H |
probably benign |
Het |
| Hs6st1 |
T |
A |
1: 36,142,952 (GRCm39) |
F296I |
possibly damaging |
Het |
| Igsf10 |
T |
A |
3: 59,226,081 (GRCm39) |
I2531F |
probably damaging |
Het |
| Klhl40 |
T |
C |
9: 121,608,989 (GRCm39) |
F385L |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,385,466 (GRCm39) |
M302K |
possibly damaging |
Het |
| Lrrc43 |
A |
T |
5: 123,632,342 (GRCm39) |
I162F |
probably damaging |
Het |
| Map3k21 |
A |
G |
8: 126,652,849 (GRCm39) |
E325G |
probably damaging |
Het |
| Mpo |
A |
T |
11: 87,685,621 (GRCm39) |
N33I |
probably benign |
Het |
| Mpp4 |
A |
G |
1: 59,200,625 (GRCm39) |
|
probably null |
Het |
| Muc5b |
C |
T |
7: 141,417,494 (GRCm39) |
T3480I |
possibly damaging |
Het |
| Myo6 |
T |
C |
9: 80,171,554 (GRCm39) |
|
probably benign |
Het |
| Nostrin |
C |
T |
2: 68,986,453 (GRCm39) |
|
probably benign |
Het |
| Nphp1 |
T |
C |
2: 127,595,969 (GRCm39) |
M498V |
probably benign |
Het |
| Nr4a2 |
A |
T |
2: 57,001,667 (GRCm39) |
L199Q |
possibly damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,873 (GRCm39) |
N598I |
probably damaging |
Het |
| Pex19 |
T |
A |
1: 171,961,853 (GRCm39) |
M207K |
probably damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Plekha2 |
T |
C |
8: 25,532,745 (GRCm39) |
K409E |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,476,691 (GRCm39) |
L1169P |
probably damaging |
Het |
| Pmpcb |
A |
G |
5: 21,948,373 (GRCm39) |
|
probably benign |
Het |
| Ptrh1 |
T |
C |
2: 32,666,826 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,288,265 (GRCm39) |
E439G |
probably damaging |
Het |
| Stx18 |
T |
A |
5: 38,285,447 (GRCm39) |
V219D |
probably damaging |
Het |
| Taf7 |
A |
T |
18: 37,775,533 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,415,988 (GRCm39) |
I895T |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,419,317 (GRCm39) |
S766P |
probably damaging |
Het |
| Tekt3 |
C |
A |
11: 62,974,766 (GRCm39) |
H362N |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tmem94 |
T |
C |
11: 115,678,364 (GRCm39) |
S196P |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,367,933 (GRCm39) |
Y353C |
probably damaging |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,953,744 (GRCm39) |
M636R |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,300,941 (GRCm39) |
C648S |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,965,591 (GRCm39) |
C560Y |
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 |
|
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 |
|
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 |
Incidental Mutation