Incidental Mutation 'IGL03163:Ric8b'
| ID |
411525 |
| 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 # |
IGL03163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
84753480-84854201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84837686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 498
(N498D)
|
| 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: N498D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046981
Gene: ENSMUSG00000035620
AA Change: N498D
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,228,191 (GRCm39) |
D393V |
probably benign |
Het |
| Amz2 |
C |
A |
11: 109,319,751 (GRCm39) |
Q46K |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,780,681 (GRCm39) |
R1911H |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,105,057 (GRCm39) |
|
probably null |
Het |
| Atxn1l |
T |
C |
8: 110,459,017 (GRCm39) |
N415S |
probably damaging |
Het |
| Clu |
C |
T |
14: 66,217,235 (GRCm39) |
S356F |
probably benign |
Het |
| Cluh |
T |
C |
11: 74,556,894 (GRCm39) |
V1029A |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,566,315 (GRCm39) |
L274F |
probably damaging |
Het |
| Dcaf8 |
T |
C |
1: 172,000,475 (GRCm39) |
V211A |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fam131c |
T |
C |
4: 141,110,069 (GRCm39) |
F156L |
probably damaging |
Het |
| Fbxw21 |
T |
A |
9: 108,974,552 (GRCm39) |
I323F |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,502,019 (GRCm39) |
V202A |
possibly damaging |
Het |
| Gipr |
C |
T |
7: 18,896,481 (GRCm39) |
W205* |
probably null |
Het |
| Gm13941 |
A |
T |
2: 110,928,761 (GRCm39) |
I99K |
unknown |
Het |
| Gpr22 |
A |
T |
12: 31,759,171 (GRCm39) |
V317E |
possibly damaging |
Het |
| Hace1 |
T |
C |
10: 45,548,701 (GRCm39) |
I582T |
probably damaging |
Het |
| Iho1 |
G |
T |
9: 108,282,132 (GRCm39) |
L519I |
probably benign |
Het |
| Khdrbs1 |
T |
C |
4: 129,619,508 (GRCm39) |
E211G |
probably benign |
Het |
| Lonrf1 |
T |
C |
8: 36,697,484 (GRCm39) |
D500G |
probably benign |
Het |
| Lrp2 |
A |
C |
2: 69,331,870 (GRCm39) |
Y1628* |
probably null |
Het |
| Lrrc40 |
T |
C |
3: 157,747,224 (GRCm39) |
I112T |
possibly damaging |
Het |
| Matr3 |
G |
A |
18: 35,705,644 (GRCm39) |
D190N |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,710 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,739,212 (GRCm39) |
D2326V |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,222,020 (GRCm39) |
D557G |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,600,801 (GRCm39) |
N194K |
probably damaging |
Het |
| Rasgef1c |
T |
C |
11: 49,862,200 (GRCm39) |
V363A |
possibly damaging |
Het |
| Scn1a |
A |
C |
2: 66,148,418 (GRCm39) |
D22E |
probably benign |
Het |
| Spc25 |
T |
G |
2: 69,027,548 (GRCm39) |
I115L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,461,266 (GRCm39) |
H3569R |
probably benign |
Het |
| Stra6l |
T |
C |
4: 45,881,455 (GRCm39) |
I439T |
probably benign |
Het |
| Trappc12 |
G |
T |
12: 28,796,653 (GRCm39) |
P293Q |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,630 (GRCm39) |
L761P |
possibly damaging |
Het |
| Usp15 |
A |
C |
10: 123,007,049 (GRCm39) |
M144R |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,692 (GRCm39) |
I271V |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,958,841 (GRCm39) |
V1104A |
probably damaging |
Het |
| Zftraf1 |
A |
T |
15: 76,543,474 (GRCm39) |
L13Q |
probably 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 |
|
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 |
2016-08-02 |
Incidental Mutation