Incidental Mutation 'R4552:Ric8a'
| ID |
334014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ric8a
|
| Ensembl Gene |
ENSMUSG00000025485 |
| Gene Name |
RIC8 guanine nucleotide exchange factor A |
| Synonyms |
synembryn, Ric8, RIC-8 |
| MMRRC Submission |
041783-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4552 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140437310-140443644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140441250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 182
(G182S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026557]
[ENSMUST00000026558]
[ENSMUST00000026559]
[ENSMUST00000106048]
[ENSMUST00000137024]
[ENSMUST00000209766]
[ENSMUST00000210708]
[ENSMUST00000211624]
[ENSMUST00000211179]
[ENSMUST00000210296]
[ENSMUST00000210710]
|
| AlphaFold |
Q3TIR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026557
|
| SMART Domains |
Protein: ENSMUSP00000026557
Gene: ENSMUSG00000025484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNARE
|
20 |
82 |
3.4e-13 |
PFAM |
|
transmembrane domain
|
87 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026558
AA Change: G417S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
AA Change: G417S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ric8
|
66 |
505 |
2.3e-125 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026559
|
| SMART Domains |
Protein: ENSMUSP00000026559
Gene: ENSMUSG00000025486
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
3 |
184 |
5.3e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106048
|
| SMART Domains |
Protein: ENSMUSP00000101663
Gene: ENSMUSG00000025486
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
3 |
184 |
8.7e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137024
|
| SMART Domains |
Protein: ENSMUSP00000114247
Gene: ENSMUSG00000025486
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
3 |
178 |
1.7e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209766
AA Change: G182S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151384
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147815
|
| Meta Mutation Damage Score |
0.9074 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
97% (62/64) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in lethality during gastrulation. Heterozygotes exhibit impaired spatial learning and increased anxiety. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,218,533 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
| Camta1 |
T |
C |
4: 151,876,959 (GRCm39) |
R79G |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,260,936 (GRCm39) |
E309G |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,071,789 (GRCm39) |
T100A |
probably benign |
Het |
| Dalrd3 |
A |
G |
9: 108,449,429 (GRCm39) |
D454G |
possibly damaging |
Het |
| Ddx19a |
G |
A |
8: 111,705,198 (GRCm39) |
Q308* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,359,047 (GRCm39) |
N395S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,943,769 (GRCm39) |
D3125G |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,397,300 (GRCm39) |
V3331A |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,361,578 (GRCm39) |
Y677C |
probably damaging |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Hid1 |
G |
A |
11: 115,249,505 (GRCm39) |
T240M |
possibly damaging |
Het |
| Igbp1b |
T |
A |
6: 138,635,112 (GRCm39) |
M111L |
probably benign |
Het |
| Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
| Klk4 |
C |
A |
7: 43,533,443 (GRCm39) |
H101N |
probably benign |
Het |
| Mrgpra2b |
C |
A |
7: 47,113,754 (GRCm39) |
S300I |
probably benign |
Het |
| Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,385,938 (GRCm39) |
|
probably null |
Het |
| Nif3l1 |
C |
T |
1: 58,488,483 (GRCm39) |
|
probably benign |
Het |
| Noct |
T |
A |
3: 51,157,589 (GRCm39) |
I309N |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odf2l |
A |
T |
3: 144,856,844 (GRCm39) |
T600S |
probably benign |
Het |
| Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
| Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
| Or1m1 |
A |
G |
9: 18,666,430 (GRCm39) |
V167A |
possibly damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,777 (GRCm39) |
M180L |
probably benign |
Het |
| Or6c217 |
T |
C |
10: 129,737,992 (GRCm39) |
M196V |
probably benign |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,285 (GRCm39) |
S1141P |
unknown |
Het |
| Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
| Ppargc1a |
C |
T |
5: 51,620,557 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,346 (GRCm39) |
I416L |
probably benign |
Het |
| Rhpn1 |
G |
A |
15: 75,585,968 (GRCm39) |
R627H |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,443,718 (GRCm39) |
D895G |
probably damaging |
Het |
| Rrp1b |
G |
A |
17: 32,274,984 (GRCm39) |
|
probably benign |
Het |
| Rtf1 |
T |
A |
2: 119,561,210 (GRCm39) |
D636E |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,354,523 (GRCm39) |
D333G |
probably benign |
Het |
| Sema6a |
A |
G |
18: 47,424,990 (GRCm39) |
L207P |
probably damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,799,779 (GRCm39) |
Y160* |
probably null |
Het |
| Slc27a1 |
A |
T |
8: 72,032,710 (GRCm39) |
|
probably null |
Het |
| Ston2 |
C |
T |
12: 91,608,646 (GRCm39) |
R818Q |
probably damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Tjap1 |
A |
T |
17: 46,570,953 (GRCm39) |
|
probably null |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,667 (GRCm39) |
D64G |
possibly damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,525,055 (GRCm39) |
D31V |
probably benign |
Het |
| Vmn2r-ps41 |
A |
T |
7: 9,180,063 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Ric8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02158:Ric8a
|
APN |
7 |
140,442,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0277:Ric8a
|
UTSW |
7 |
140,437,813 (GRCm39) |
unclassified |
probably benign |
|
|
R0529:Ric8a
|
UTSW |
7 |
140,440,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0707:Ric8a
|
UTSW |
7 |
140,437,886 (GRCm39) |
unclassified |
probably benign |
|
|
R1272:Ric8a
|
UTSW |
7 |
140,442,289 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1627:Ric8a
|
UTSW |
7 |
140,438,091 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1655:Ric8a
|
UTSW |
7 |
140,440,808 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2281:Ric8a
|
UTSW |
7 |
140,441,851 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2327:Ric8a
|
UTSW |
7 |
140,439,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3721:Ric8a
|
UTSW |
7 |
140,441,874 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4287:Ric8a
|
UTSW |
7 |
140,441,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4504:Ric8a
|
UTSW |
7 |
140,438,429 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4505:Ric8a
|
UTSW |
7 |
140,438,429 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4506:Ric8a
|
UTSW |
7 |
140,438,429 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4507:Ric8a
|
UTSW |
7 |
140,438,429 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5500:Ric8a
|
UTSW |
7 |
140,438,228 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6737:Ric8a
|
UTSW |
7 |
140,438,789 (GRCm39) |
splice site |
probably null |
|
|
R8150:Ric8a
|
UTSW |
7 |
140,441,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Ric8a
|
UTSW |
7 |
140,437,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8788:Ric8a
|
UTSW |
7 |
140,438,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Ric8a
|
UTSW |
7 |
140,438,379 (GRCm39) |
missense |
probably benign |
|
|
R9449:Ric8a
|
UTSW |
7 |
140,437,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACAAGCTTGTCCGCCTC -3'
(R):5'- TCCTATGTACTACTGGTTCGAGC -3'
Sequencing Primer
(F):5'- AAGCTTGTCCGCCTCATGAC -3'
(R):5'- ACTACTGGTTCGAGCTGGAGAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation