Incidental Mutation 'R8150:Ric8a'
| ID |
632910 |
| 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 |
067576-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140437310-140443644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 140441269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 423
(G423V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026557]
[ENSMUST00000026558]
[ENSMUST00000026559]
[ENSMUST00000106048]
[ENSMUST00000137024]
[ENSMUST00000209766]
[ENSMUST00000210296]
[ENSMUST00000210708]
[ENSMUST00000210710]
[ENSMUST00000211179]
[ENSMUST00000211624]
|
| 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: G423V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
AA Change: G423V
| 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 |
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: G188V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210296
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210710
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211624
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,538,635 (GRCm39) |
M129L |
probably benign |
Het |
| Aadacl2fm1 |
A |
G |
3: 59,843,558 (GRCm39) |
D84G |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,337,393 (GRCm39) |
I2416T |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,615,522 (GRCm39) |
D871G |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,011,982 (GRCm39) |
T895I |
probably damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,444 (GRCm39) |
E390G |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,741,162 (GRCm39) |
D1574V |
|
Het |
| Blmh |
T |
C |
11: 76,859,455 (GRCm39) |
V352A |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,259,540 (GRCm39) |
L1270P |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,947,792 (GRCm39) |
H923Q |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,406,286 (GRCm39) |
H610Y |
probably damaging |
Het |
| Cep126 |
T |
C |
9: 8,101,791 (GRCm39) |
I248V |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
| Chd3 |
G |
A |
11: 69,254,510 (GRCm39) |
H201Y |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,007,152 (GRCm39) |
T292A |
probably damaging |
Het |
| Gli2 |
G |
A |
1: 118,763,558 (GRCm39) |
T1531I |
probably damaging |
Het |
| Gm6871 |
T |
C |
7: 41,197,185 (GRCm39) |
T7A |
|
Het |
| Kank1 |
A |
G |
19: 25,388,163 (GRCm39) |
D612G |
possibly damaging |
Het |
| Lhcgr |
AT |
ATT |
17: 89,049,677 (GRCm39) |
615 |
probably null |
Het |
| Mfsd6 |
T |
A |
1: 52,747,800 (GRCm39) |
D355V |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,712,846 (GRCm39) |
K1710E |
probably benign |
Het |
| Or13d1 |
C |
G |
4: 52,970,788 (GRCm39) |
H56D |
probably damaging |
Het |
| Or52ae7 |
A |
G |
7: 103,119,459 (GRCm39) |
D71G |
probably damaging |
Het |
| Pcdha8 |
G |
A |
18: 37,126,264 (GRCm39) |
V249M |
probably damaging |
Het |
| Pglyrp3 |
A |
G |
3: 91,933,790 (GRCm39) |
D145G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,055 (GRCm39) |
K2521E |
possibly damaging |
Het |
| Pld3 |
A |
G |
7: 27,232,086 (GRCm39) |
V398A |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,941,146 (GRCm39) |
T1642S |
probably damaging |
Het |
| Ppp2r1a |
T |
G |
17: 21,179,700 (GRCm39) |
V348G |
possibly damaging |
Het |
| Prdm2 |
C |
A |
4: 142,859,303 (GRCm39) |
C1329F |
possibly damaging |
Het |
| Rnf17 |
A |
G |
14: 56,658,593 (GRCm39) |
D94G |
probably benign |
Het |
| Serpina3f |
T |
C |
12: 104,185,769 (GRCm39) |
F325L |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,034,568 (GRCm39) |
V1247E |
possibly damaging |
Het |
| Skint5 |
C |
A |
4: 113,798,087 (GRCm39) |
M165I |
probably benign |
Het |
| Slc19a3 |
T |
G |
1: 83,000,216 (GRCm39) |
Y267S |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,887,390 (GRCm39) |
F196Y |
possibly damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,939,680 (GRCm39) |
I152N |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,982,519 (GRCm39) |
V768E |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,063,534 (GRCm39) |
M988K |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,393,291 (GRCm38) |
F317I |
probably damaging |
Het |
| Wfdc8 |
A |
T |
2: 164,439,455 (GRCm39) |
L309* |
probably null |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp949 |
C |
T |
9: 88,452,053 (GRCm39) |
T541I |
probably benign |
Het |
| Zkscan16 |
T |
A |
4: 58,952,407 (GRCm39) |
I235N |
probably benign |
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 |
|
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 |
|
|
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'- AACAAGCTTGTCCGCCTCATG -3'
(R):5'- GTCCTATGTACTACTGGTTCGAGC -3'
Sequencing Primer
(F):5'- AGAGTAGCTGCCGAGTTCCTC -3'
(R):5'- ACTACTGGTTCGAGCTGGAGAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation