Incidental Mutation 'R1627:Ric8a'
| ID |
172560 |
| 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 |
039664-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1627 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140437310-140443644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140438091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 110
(D110G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026557]
[ENSMUST00000026558]
[ENSMUST00000210708]
[ENSMUST00000211590]
[ENSMUST00000209320]
[ENSMUST00000210710]
[ENSMUST00000209690]
[ENSMUST00000211624]
[ENSMUST00000209766]
[ENSMUST00000211527]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000026558
AA Change: D110G
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
AA Change: D110G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ric8
|
66 |
505 |
2.3e-125 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151384
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210708
AA Change: D110G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209320
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209690
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209766
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210157
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.0%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,083,880 (GRCm39) |
M630T |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,491,759 (GRCm39) |
I81V |
probably benign |
Het |
| Bub1 |
A |
G |
2: 127,650,933 (GRCm39) |
S627P |
probably benign |
Het |
| C1s1 |
T |
A |
6: 124,514,439 (GRCm39) |
N139I |
probably damaging |
Het |
| Car6 |
A |
T |
4: 150,277,035 (GRCm39) |
V152D |
probably damaging |
Het |
| Cdh19 |
C |
A |
1: 110,847,375 (GRCm39) |
M411I |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,700,531 (GRCm39) |
E322G |
probably damaging |
Het |
| Chek1 |
C |
A |
9: 36,625,737 (GRCm39) |
V303L |
probably benign |
Het |
| Dctn1 |
T |
A |
6: 83,172,064 (GRCm39) |
I818N |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,664,445 (GRCm39) |
S2107P |
probably damaging |
Het |
| Dusp14 |
A |
G |
11: 83,939,597 (GRCm39) |
I148T |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,227,754 (GRCm39) |
D645G |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,806,390 (GRCm39) |
N1153S |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,513,728 (GRCm39) |
D1541G |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,640,571 (GRCm39) |
S513G |
probably damaging |
Het |
| H2-D1 |
G |
T |
17: 35,482,471 (GRCm39) |
A64S |
possibly damaging |
Het |
| Hsd17b2 |
T |
A |
8: 118,428,909 (GRCm39) |
F59I |
possibly damaging |
Het |
| Itgb7 |
T |
G |
15: 102,131,911 (GRCm39) |
Q224P |
probably damaging |
Het |
| Jak1 |
A |
G |
4: 101,048,821 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
G |
A |
13: 47,217,707 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
A |
G |
4: 107,711,613 (GRCm39) |
I466V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,795,043 (GRCm39) |
D2909G |
probably damaging |
Het |
| Nol8 |
T |
C |
13: 49,814,980 (GRCm39) |
S345P |
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,051,476 (GRCm39) |
M540T |
probably benign |
Het |
| Obscn |
C |
T |
11: 59,003,464 (GRCm39) |
R1370H |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,327,125 (GRCm39) |
F34S |
probably damaging |
Het |
| Pbx3 |
A |
G |
2: 34,065,965 (GRCm39) |
V375A |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 4,906,168 (GRCm39) |
V241A |
possibly damaging |
Het |
| Psmd6 |
C |
T |
14: 14,112,539 (GRCm38) |
V354M |
probably damaging |
Het |
| Rab2a |
T |
C |
4: 8,578,481 (GRCm39) |
F94L |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,094,571 (GRCm39) |
D949G |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,007,197 (GRCm39) |
D594E |
probably benign |
Het |
| Septin1 |
C |
A |
7: 126,817,230 (GRCm39) |
|
probably null |
Het |
| Slco5a1 |
G |
C |
1: 13,060,607 (GRCm39) |
P38R |
probably damaging |
Het |
| Snx33 |
C |
A |
9: 56,833,241 (GRCm39) |
R276L |
probably damaging |
Het |
| Taf11 |
A |
T |
17: 28,124,253 (GRCm39) |
D101E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,764,564 (GRCm39) |
S3168P |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,295,075 (GRCm39) |
E41G |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,249 (GRCm39) |
R692G |
probably damaging |
Het |
| Zfp763 |
A |
T |
17: 33,240,758 (GRCm39) |
W24R |
probably damaging |
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 |
|
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 |
|
R4552:Ric8a
|
UTSW |
7 |
140,441,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTGTCACCAAAGCACCGTGTCACC -3'
(R):5'- TAGTTCCAGCGCATCAGTCAGCAG -3'
Sequencing Primer
(F):5'- AGAGCTTACATGCACTAGCC -3'
(R):5'- AGCTCCTGAAACAGTTGCTGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation