Incidental Mutation 'IGL02254:Ric8b'
| ID |
286545 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ric8b
|
| Ensembl Gene |
ENSMUSG00000035620 |
| Gene Name |
RIC8 guanine nucleotide exchange factor B |
| Synonyms |
Ric-8b, Ric-8 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02254
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
84753480-84854201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84816000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 417
(D417G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038523]
[ENSMUST00000095385]
[ENSMUST00000214693]
|
| AlphaFold |
Q80XE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038523
AA Change: D417G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046981
Gene: ENSMUSG00000035620
AA Change: D417G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ric8
|
66 |
538 |
8.1e-125 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095385
AA Change: D417G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093032
Gene: ENSMUSG00000035620
AA Change: D417G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ric8
|
66 |
486 |
1.2e-111 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214693
AA Change: D214G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217175
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(24) : Targeted, other(4) Gene trapped(20) |
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agk |
T |
C |
6: 40,358,180 (GRCm39) |
W211R |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,506,827 (GRCm39) |
|
probably null |
Het |
| Calcrl |
A |
G |
2: 84,178,552 (GRCm39) |
W259R |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,961,238 (GRCm39) |
C1911S |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,661,143 (GRCm39) |
|
probably benign |
Het |
| Csad |
C |
A |
15: 102,094,872 (GRCm39) |
G63* |
probably null |
Het |
| H2bc8 |
G |
T |
13: 23,755,609 (GRCm39) |
M1I |
probably null |
Het |
| Hc |
G |
A |
2: 34,874,836 (GRCm39) |
A115V |
probably damaging |
Het |
| Hepacam2 |
T |
A |
6: 3,483,421 (GRCm39) |
H196L |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,533 (GRCm39) |
E640K |
probably damaging |
Het |
| Mrgprx2 |
G |
A |
7: 48,132,686 (GRCm39) |
T10I |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,777,109 (GRCm39) |
Y912H |
probably damaging |
Het |
| Plin4 |
G |
T |
17: 56,411,733 (GRCm39) |
T766K |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,371,733 (GRCm39) |
Q4846P |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,580,449 (GRCm39) |
Q320R |
possibly damaging |
Het |
| Slc35f3 |
A |
G |
8: 127,115,862 (GRCm39) |
E263G |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,896,264 (GRCm39) |
W564R |
probably benign |
Het |
| Taf4 |
C |
T |
2: 179,562,977 (GRCm39) |
V965M |
probably benign |
Het |
| Trpc3 |
C |
T |
3: 36,705,669 (GRCm39) |
G509R |
probably null |
Het |
| Ttn |
T |
C |
2: 76,708,309 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
G |
T |
2: 166,897,643 (GRCm39) |
T427N |
probably damaging |
Het |
|
| Other mutations in Ric8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02388:Ric8b
|
APN |
10 |
84,828,135 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02435:Ric8b
|
APN |
10 |
84,815,940 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02890:Ric8b
|
APN |
10 |
84,837,731 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03163:Ric8b
|
APN |
10 |
84,837,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03211:Ric8b
|
APN |
10 |
84,837,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4216:Ric8b
|
UTSW |
10 |
84,851,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0491:Ric8b
|
UTSW |
10 |
84,828,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Ric8b
|
UTSW |
10 |
84,837,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1077:Ric8b
|
UTSW |
10 |
84,806,581 (GRCm39) |
splice site |
probably benign |
|
|
R1448:Ric8b
|
UTSW |
10 |
84,783,535 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1565:Ric8b
|
UTSW |
10 |
84,815,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1617:Ric8b
|
UTSW |
10 |
84,783,475 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1634:Ric8b
|
UTSW |
10 |
84,806,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Ric8b
|
UTSW |
10 |
84,837,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2339:Ric8b
|
UTSW |
10 |
84,805,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2897:Ric8b
|
UTSW |
10 |
84,783,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2898:Ric8b
|
UTSW |
10 |
84,783,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4657:Ric8b
|
UTSW |
10 |
84,828,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Ric8b
|
UTSW |
10 |
84,753,628 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4953:Ric8b
|
UTSW |
10 |
84,793,946 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5277:Ric8b
|
UTSW |
10 |
84,783,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5308:Ric8b
|
UTSW |
10 |
84,783,611 (GRCm39) |
missense |
probably benign |
|
|
R5326:Ric8b
|
UTSW |
10 |
84,828,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Ric8b
|
UTSW |
10 |
84,783,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6782:Ric8b
|
UTSW |
10 |
84,783,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Ric8b
|
UTSW |
10 |
84,783,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8123:Ric8b
|
UTSW |
10 |
84,805,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Ric8b
|
UTSW |
10 |
84,816,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9119:Ric8b
|
UTSW |
10 |
84,783,334 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9417:Ric8b
|
UTSW |
10 |
84,761,447 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9698:Ric8b
|
UTSW |
10 |
84,783,361 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Ric8b
|
UTSW |
10 |
84,783,408 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2015-04-16 |
Incidental Mutation