Incidental Mutation 'IGL02435:Ric8b'
ID |
293245 |
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 # |
IGL02435
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
84753480-84854201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84815940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 194
(N194S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038523]
[ENSMUST00000095385]
[ENSMUST00000214693]
|
AlphaFold |
Q80XE1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038523
AA Change: N397S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000046981 Gene: ENSMUSG00000035620 AA Change: N397S
Domain | Start | End | E-Value | Type |
Pfam:Ric8
|
66 |
538 |
8.1e-125 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095385
AA Change: N397S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000093032 Gene: ENSMUSG00000035620 AA Change: N397S
Domain | Start | End | E-Value | Type |
Pfam:Ric8
|
66 |
486 |
1.2e-111 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214693
AA Change: N194S
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amph |
A |
G |
13: 19,323,333 (GRCm39) |
|
probably benign |
Het |
Ankrd12 |
G |
T |
17: 66,294,151 (GRCm39) |
S427R |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,416,482 (GRCm39) |
T420A |
probably benign |
Het |
Braf |
C |
T |
6: 39,623,700 (GRCm39) |
S414N |
probably benign |
Het |
C1rl |
T |
C |
6: 124,485,832 (GRCm39) |
L401P |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,830,325 (GRCm39) |
|
probably benign |
Het |
Elmo1 |
A |
T |
13: 20,773,826 (GRCm39) |
D612V |
probably damaging |
Het |
Fbxo15 |
T |
C |
18: 84,977,351 (GRCm39) |
S88P |
probably damaging |
Het |
Glrx3 |
A |
G |
7: 137,063,125 (GRCm39) |
N132S |
possibly damaging |
Het |
Hamp |
G |
T |
7: 30,643,324 (GRCm39) |
Q29K |
probably benign |
Het |
Igfbp2 |
G |
A |
1: 72,891,245 (GRCm39) |
R281Q |
probably damaging |
Het |
Itih3 |
C |
T |
14: 30,637,711 (GRCm39) |
A483T |
probably damaging |
Het |
Mrc1 |
C |
T |
2: 14,253,671 (GRCm39) |
Q231* |
probably null |
Het |
Nif3l1 |
A |
G |
1: 58,487,020 (GRCm39) |
T69A |
possibly damaging |
Het |
Ntrk1 |
A |
G |
3: 87,696,039 (GRCm39) |
F157S |
probably benign |
Het |
Or2ag1b |
A |
G |
7: 106,288,710 (GRCm39) |
V76A |
probably benign |
Het |
Or4a72 |
A |
G |
2: 89,405,890 (GRCm39) |
F60S |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,391 (GRCm39) |
I251N |
probably damaging |
Het |
Pck2 |
T |
C |
14: 55,781,847 (GRCm39) |
|
probably benign |
Het |
Pdgfrb |
T |
C |
18: 61,197,998 (GRCm39) |
|
probably null |
Het |
Rlbp1 |
A |
G |
7: 79,031,414 (GRCm39) |
F105L |
probably damaging |
Het |
Sde2 |
G |
T |
1: 180,693,717 (GRCm39) |
K402N |
probably damaging |
Het |
Slc13a3 |
T |
C |
2: 165,250,860 (GRCm39) |
H461R |
possibly damaging |
Het |
Spag17 |
A |
T |
3: 99,889,760 (GRCm39) |
I210F |
possibly damaging |
Het |
Szt2 |
G |
A |
4: 118,248,020 (GRCm39) |
R735W |
probably damaging |
Het |
Tspan6 |
T |
C |
X: 132,793,493 (GRCm39) |
Y186C |
probably benign |
Het |
Ugt8a |
A |
G |
3: 125,660,969 (GRCm39) |
S508P |
probably benign |
Het |
Zfp217 |
T |
C |
2: 169,961,373 (GRCm39) |
D318G |
possibly damaging |
Het |
|
Other mutations in Ric8b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02254:Ric8b
|
APN |
10 |
84,816,000 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02388:Ric8b
|
APN |
10 |
84,828,135 (GRCm39) |
unclassified |
probably benign |
|
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 |