Incidental Mutation 'IGL03211:Ric8b'
| ID |
413300 |
| 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 # |
IGL03211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
84753480-84854201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84837657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 488
(I488N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038523]
[ENSMUST00000095385]
|
| AlphaFold |
Q80XE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038523
AA Change: I488N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046981
Gene: ENSMUSG00000035620
AA Change: I488N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ric8
|
66 |
538 |
8.1e-125 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095385
|
| SMART Domains |
Protein: ENSMUSP00000093032
Gene: ENSMUSG00000035620
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ric8
|
66 |
486 |
1.2e-111 |
PFAM |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp7 |
C |
T |
2: 172,714,676 (GRCm39) |
V378I |
possibly damaging |
Het |
| Cd209b |
G |
T |
8: 3,968,830 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
T |
9: 65,187,457 (GRCm39) |
Q1184L |
probably benign |
Het |
| Cysltr2 |
A |
T |
14: 73,267,155 (GRCm39) |
M185K |
possibly damaging |
Het |
| Dcaf6 |
A |
G |
1: 165,250,502 (GRCm39) |
F121L |
possibly damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,048 (GRCm39) |
Y95N |
possibly damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,033 (GRCm39) |
V214A |
probably benign |
Het |
| Elavl3 |
A |
G |
9: 21,929,974 (GRCm39) |
V310A |
probably damaging |
Het |
| Emc2 |
C |
T |
15: 43,371,068 (GRCm39) |
R131* |
probably null |
Het |
| Hcn4 |
G |
A |
9: 58,765,434 (GRCm39) |
V639M |
unknown |
Het |
| Kif21a |
T |
G |
15: 90,882,166 (GRCm39) |
D46A |
possibly damaging |
Het |
| Kitl |
T |
C |
10: 99,916,721 (GRCm39) |
S175P |
probably benign |
Het |
| Klhl32 |
C |
T |
4: 24,792,616 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
C |
T |
2: 160,601,611 (GRCm39) |
T972I |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,492 (GRCm39) |
H666R |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,443,157 (GRCm39) |
|
probably null |
Het |
| Rdh7 |
T |
C |
10: 127,723,492 (GRCm39) |
N121S |
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,596,153 (GRCm39) |
|
probably null |
Het |
| Slc9a9 |
G |
A |
9: 95,020,043 (GRCm39) |
|
probably benign |
Het |
| Tk2 |
T |
A |
8: 104,970,073 (GRCm39) |
I64F |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,548,770 (GRCm39) |
W1776* |
probably null |
Het |
| Vrk1 |
C |
T |
12: 106,002,847 (GRCm39) |
A15V |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,992,778 (GRCm39) |
|
probably benign |
Het |
| Wfdc10 |
T |
C |
2: 164,499,172 (GRCm39) |
V94A |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,600 (GRCm39) |
C652S |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation