Incidental Mutation 'R5277:Ric8b'
| ID |
404009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ric8b
|
| Ensembl Gene |
ENSMUSG00000035620 |
| Gene Name |
RIC8 guanine nucleotide exchange factor B |
| Synonyms |
Ric-8b, Ric-8 |
| MMRRC Submission |
042864-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5277 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
84753480-84854201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84783516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 125
(V125M)
|
| 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: V125M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046981
Gene: ENSMUSG00000035620
AA Change: V125M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ric8
|
66 |
538 |
8.1e-125 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095385
AA Change: V125M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093032
Gene: ENSMUSG00000035620
AA Change: V125M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ric8
|
66 |
486 |
1.2e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217175
|
| Meta Mutation Damage Score |
0.8555 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
All alleles(24) : Targeted, other(4) Gene trapped(20) |
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,884,660 (GRCm39) |
T54A |
probably damaging |
Het |
| Ablim1 |
T |
C |
19: 57,143,693 (GRCm39) |
R89G |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,844,128 (GRCm39) |
|
probably null |
Het |
| Bhmt |
A |
T |
13: 93,761,393 (GRCm39) |
M185K |
possibly damaging |
Het |
| Camk2d |
T |
C |
3: 126,478,390 (GRCm39) |
|
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,251,915 (GRCm39) |
S70P |
probably benign |
Het |
| Dclre1a |
C |
T |
19: 56,533,164 (GRCm39) |
V477I |
possibly damaging |
Het |
| Dnah10 |
C |
T |
5: 124,905,201 (GRCm39) |
P4021L |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,769,204 (GRCm39) |
N57D |
possibly damaging |
Het |
| Fam13b |
G |
A |
18: 34,595,243 (GRCm39) |
R374C |
probably benign |
Het |
| Fyb2 |
G |
A |
4: 104,872,876 (GRCm39) |
D686N |
probably damaging |
Het |
| Glra3 |
G |
A |
8: 56,444,242 (GRCm39) |
M67I |
possibly damaging |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Gm6180 |
A |
G |
8: 42,700,177 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2c |
A |
G |
11: 115,144,639 (GRCm39) |
V629A |
probably damaging |
Het |
| Kif4-ps |
A |
T |
12: 101,112,186 (GRCm39) |
|
noncoding transcript |
Het |
| Mc3r |
T |
C |
2: 172,091,707 (GRCm39) |
F310L |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,143,180 (GRCm39) |
D1036G |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,194,019 (GRCm39) |
I790T |
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,367,940 (GRCm39) |
Y233* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 125,954,277 (GRCm39) |
C758* |
probably null |
Het |
| Neurog3 |
T |
A |
10: 61,969,632 (GRCm39) |
Y36N |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,863 (GRCm39) |
L450P |
probably benign |
Het |
| Or52d13 |
A |
T |
7: 103,110,148 (GRCm39) |
L84H |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,896,045 (GRCm39) |
E170G |
possibly damaging |
Het |
| Ppp2r2b |
G |
T |
18: 42,874,207 (GRCm39) |
T41K |
probably damaging |
Het |
| Prmt5 |
A |
T |
14: 54,747,399 (GRCm39) |
D459E |
probably benign |
Het |
| Rptor |
A |
G |
11: 119,713,782 (GRCm39) |
S4G |
probably damaging |
Het |
| Rslcan18 |
T |
G |
13: 67,246,498 (GRCm39) |
E371D |
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,317,107 (GRCm39) |
F819Y |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,409,611 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,217,688 (GRCm39) |
T163I |
possibly damaging |
Het |
| Sphkap |
T |
C |
1: 83,253,885 (GRCm39) |
N1288S |
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,723,192 (GRCm39) |
|
probably null |
Het |
| Tmem63c |
T |
A |
12: 87,104,531 (GRCm39) |
|
probably null |
Het |
| Tmem69 |
A |
G |
4: 116,410,458 (GRCm39) |
F171L |
probably benign |
Het |
| Urod |
A |
T |
4: 116,847,482 (GRCm39) |
|
probably benign |
Het |
| Vmn1r37 |
A |
T |
6: 66,708,460 (GRCm39) |
I29L |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,393 (GRCm39) |
T653A |
possibly damaging |
Het |
| Vmn2r75 |
A |
C |
7: 85,815,500 (GRCm39) |
S121R |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,995 (GRCm39) |
T831A |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 8,006,465 (GRCm39) |
W362* |
probably null |
Het |
| Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,765,403 (GRCm39) |
V32A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGACATGCCAAGTGTCCTG -3'
(R):5'- AAGATCTGGGTTAGCAGCGG -3'
Sequencing Primer
(F):5'- ATGCCAAGTGTCCTGCCTGG -3'
(R):5'- GCTCATAGCGCAATTGTGAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation