Incidental Mutation 'R4507:Ric8a'
| ID |
332056 |
| 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 |
041756-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140437310-140443644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140438429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 223
(I223V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026557]
[ENSMUST00000026558]
[ENSMUST00000209320]
[ENSMUST00000211624]
[ENSMUST00000209690]
[ENSMUST00000210710]
[ENSMUST00000210708]
[ENSMUST00000209766]
[ENSMUST00000211527]
[ENSMUST00000211590]
|
| 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 benign
Transcript: ENSMUST00000026558
AA Change: I223V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
AA Change: I223V
| 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 |
noncoding transcript
Transcript: ENSMUST00000153498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209320
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210710
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211527
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152212
|
| Meta Mutation Damage Score |
0.0662 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,601 (GRCm39) |
Y83C |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,953,851 (GRCm39) |
I863N |
probably benign |
Het |
| Abr |
A |
G |
11: 76,342,683 (GRCm39) |
I608T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,565 (GRCm39) |
Y485C |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,374,681 (GRCm39) |
K38E |
possibly damaging |
Het |
| Bhlhe22 |
T |
C |
3: 18,109,123 (GRCm39) |
S58P |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,027,633 (GRCm39) |
I418L |
probably damaging |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,447,087 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clic1 |
A |
G |
17: 35,271,761 (GRCm39) |
T52A |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,805,771 (GRCm39) |
R3407C |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,759,177 (GRCm39) |
|
probably null |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Folh1 |
T |
C |
7: 86,406,216 (GRCm39) |
T286A |
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,560,620 (GRCm39) |
I317N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,837,276 (GRCm39) |
L760I |
probably damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,387 (GRCm39) |
Y32F |
probably damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mdh1 |
C |
T |
11: 21,508,470 (GRCm39) |
V291M |
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,279,415 (GRCm39) |
T963A |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,774,065 (GRCm39) |
F1305L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,201 (GRCm39) |
F29S |
possibly damaging |
Het |
| Parp11 |
A |
G |
6: 127,451,246 (GRCm39) |
R99G |
probably damaging |
Het |
| Phactr1 |
C |
A |
13: 43,250,270 (GRCm39) |
T522N |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,014 (GRCm39) |
T1423A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,195,168 (GRCm39) |
I1253V |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,106,925 (GRCm39) |
M329T |
probably benign |
Het |
| Srrm4 |
T |
C |
5: 116,584,612 (GRCm39) |
Y486C |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,917,701 (GRCm39) |
D506G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,833 (GRCm39) |
I316V |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,013,786 (GRCm39) |
F952I |
probably damaging |
Het |
| Vat1l |
T |
C |
8: 114,932,556 (GRCm39) |
L34P |
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 |
|
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'- TCCAGTTCTTTGACTTGAGGC -3'
(R):5'- TGTGGAGAATACCCACCTGC -3'
Sequencing Primer
(F):5'- GAGGCTCCTTTTCCTGCTAACAG -3'
(R):5'- AGGCACCTTCCCTGAGTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation