Incidental Mutation 'IGL03026:Ric1'
| ID |
408184 |
| 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 # |
IGL03026
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 29577233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 1046
(W1046G)
|
| 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: W1046G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: W1046G
| 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 |
unknown
Transcript: ENSMUST00000160452
AA Change: M158R
|
| SMART Domains |
Protein: ENSMUSP00000125299
Gene: ENSMUSG00000038658
AA Change: M158R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIC1
|
8 |
163 |
1.4e-60 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161330
AA Change: W67G
|
| SMART Domains |
Protein: ENSMUSP00000125709
Gene: ENSMUSG00000038658
AA Change: W67G
| 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: W937G
|
| SMART Domains |
Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: W937G
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
G |
11: 100,410,516 (GRCm39) |
V154A |
possibly damaging |
Het |
| Adcy4 |
T |
C |
14: 56,015,467 (GRCm39) |
Y481C |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 34,977,412 (GRCm39) |
V315A |
probably benign |
Het |
| Atf7ip |
G |
A |
6: 136,582,380 (GRCm39) |
S1130N |
possibly damaging |
Het |
| Ctss |
A |
G |
3: 95,446,141 (GRCm39) |
D87G |
probably benign |
Het |
| Cwf19l2 |
A |
T |
9: 3,428,777 (GRCm39) |
K254N |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,179,647 (GRCm39) |
D727G |
probably damaging |
Het |
| Dsg3 |
G |
A |
18: 20,670,029 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
T |
C |
2: 24,742,746 (GRCm39) |
M478V |
probably benign |
Het |
| Enam |
A |
T |
5: 88,651,158 (GRCm39) |
N889I |
probably benign |
Het |
| Exo1 |
G |
T |
1: 175,736,003 (GRCm39) |
*148L |
probably null |
Het |
| Fam133b |
G |
T |
5: 3,609,646 (GRCm39) |
|
probably benign |
Het |
| Foxj2 |
G |
A |
6: 122,815,139 (GRCm39) |
A392T |
probably benign |
Het |
| Gbp4 |
G |
T |
5: 105,267,866 (GRCm39) |
A460E |
possibly damaging |
Het |
| H1f5 |
G |
A |
13: 21,964,117 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
T |
8: 107,605,242 (GRCm39) |
I483F |
probably benign |
Het |
| Irak2 |
T |
A |
6: 113,653,612 (GRCm39) |
V260E |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,512,199 (GRCm39) |
|
probably null |
Het |
| Lama5 |
A |
G |
2: 179,837,760 (GRCm39) |
V936A |
probably benign |
Het |
| Lmo7 |
C |
T |
14: 102,166,769 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
T |
A |
16: 93,659,612 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,414 (GRCm39) |
|
probably benign |
Het |
| Nkx2-2 |
T |
C |
2: 147,027,742 (GRCm39) |
Y66C |
probably damaging |
Het |
| Oaz1 |
G |
A |
10: 80,664,634 (GRCm39) |
|
probably benign |
Het |
| Or2y1f |
A |
T |
11: 49,184,285 (GRCm39) |
I46F |
probably damaging |
Het |
| Or6c38 |
G |
A |
10: 128,929,057 (GRCm39) |
A262V |
possibly damaging |
Het |
| Or6c65 |
A |
T |
10: 129,603,910 (GRCm39) |
M182L |
probably benign |
Het |
| Pkd2 |
A |
T |
5: 104,642,753 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,792,349 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
C |
A |
2: 146,302,695 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
T |
C |
9: 72,526,967 (GRCm39) |
S1386P |
probably damaging |
Het |
| Rrp12 |
C |
A |
19: 41,861,436 (GRCm39) |
R957L |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,442 (GRCm39) |
I1482M |
probably damaging |
Het |
| Sema3b |
T |
C |
9: 107,479,262 (GRCm39) |
N236S |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,848,441 (GRCm39) |
|
probably null |
Het |
| Slfn5 |
T |
C |
11: 82,847,387 (GRCm39) |
Y91H |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,774,261 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
G |
4: 118,249,046 (GRCm39) |
L546P |
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,946,300 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,438 (GRCm39) |
V4A |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,370,344 (GRCm39) |
L56P |
probably damaging |
Het |
| Vmn1r181 |
T |
G |
7: 23,684,000 (GRCm39) |
I155S |
possibly damaging |
Het |
| Vmn2r43 |
G |
T |
7: 8,258,096 (GRCm39) |
D372E |
probably benign |
Het |
| Vstm2b |
C |
A |
7: 40,551,945 (GRCm39) |
S99* |
probably null |
Het |
| Wdr11 |
A |
G |
7: 129,226,060 (GRCm39) |
D735G |
probably damaging |
Het |
| Wee2 |
T |
A |
6: 40,438,915 (GRCm39) |
M346K |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,818,798 (GRCm39) |
K371R |
possibly damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,680 (GRCm39) |
H226L |
possibly 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 |
|
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 |
2016-08-02 |
Incidental Mutation