Incidental Mutation 'R3721:Ric8a'
| ID |
258913 |
| 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 |
040712-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3721 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140437310-140443644 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 140441874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026557]
[ENSMUST00000026558]
[ENSMUST00000026558]
[ENSMUST00000026559]
[ENSMUST00000106048]
[ENSMUST00000137024]
[ENSMUST00000209766]
[ENSMUST00000209766]
[ENSMUST00000209766]
[ENSMUST00000209766]
[ENSMUST00000210708]
[ENSMUST00000210708]
[ENSMUST00000211624]
[ENSMUST00000211179]
[ENSMUST00000210710]
[ENSMUST00000210296]
|
| 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 null
Transcript: ENSMUST00000026558
|
| SMART Domains |
Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ric8
|
66 |
505 |
2.3e-125 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026558
|
| SMART Domains |
Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
| 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 |
noncoding transcript
Transcript: ENSMUST00000152212
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209766
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209766
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209766
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209766
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151384
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147815
|
| Meta Mutation Damage Score |
0.9504 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
T |
C |
2: 48,782,150 (GRCm39) |
S228P |
probably damaging |
Het |
| Adamts2 |
C |
T |
11: 50,664,038 (GRCm39) |
|
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,164,840 (GRCm39) |
E588G |
possibly damaging |
Het |
| Ash2l |
C |
G |
8: 26,308,653 (GRCm39) |
G453A |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,404,527 (GRCm39) |
V638A |
probably benign |
Het |
| Ccrl2 |
T |
C |
9: 110,885,432 (GRCm39) |
D22G |
probably benign |
Het |
| Cdc73 |
T |
C |
1: 143,571,191 (GRCm39) |
I83V |
possibly damaging |
Het |
| Ceacam23 |
A |
G |
7: 17,636,663 (GRCm39) |
T247A |
probably benign |
Het |
| Clec2e |
C |
A |
6: 129,071,373 (GRCm39) |
E155* |
probably null |
Het |
| Cyp3a59 |
T |
A |
5: 146,033,407 (GRCm39) |
M181K |
probably damaging |
Het |
| Dars2 |
A |
T |
1: 160,890,878 (GRCm39) |
V111E |
probably benign |
Het |
| Diras2 |
T |
A |
13: 52,662,059 (GRCm39) |
I83F |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,361,008 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
| Eeig2 |
C |
T |
3: 108,887,083 (GRCm39) |
R305Q |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,580,449 (GRCm39) |
N759S |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Ggnbp1 |
T |
C |
17: 27,248,587 (GRCm39) |
V52A |
probably benign |
Het |
| Gpr171 |
A |
G |
3: 59,005,091 (GRCm39) |
V228A |
possibly damaging |
Het |
| Gsta3 |
T |
C |
1: 21,330,313 (GRCm39) |
M55T |
probably benign |
Het |
| Hectd3 |
T |
A |
4: 116,856,942 (GRCm39) |
N496K |
probably benign |
Het |
| Hp1bp3 |
T |
G |
4: 137,966,919 (GRCm39) |
F367V |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,576,248 (GRCm39) |
L253Q |
probably damaging |
Het |
| Irs1 |
C |
T |
1: 82,267,806 (GRCm39) |
G137S |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lair1 |
A |
C |
7: 4,013,782 (GRCm39) |
L155R |
probably damaging |
Het |
| Larp7 |
A |
G |
3: 127,340,460 (GRCm39) |
L126P |
probably damaging |
Het |
| Lhx1 |
G |
A |
11: 84,412,654 (GRCm39) |
R89C |
probably damaging |
Het |
| Lypd4 |
C |
A |
7: 24,564,884 (GRCm39) |
A85S |
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
| Myh10 |
G |
T |
11: 68,703,878 (GRCm39) |
R1863L |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,775,463 (GRCm39) |
V1025I |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,569,619 (GRCm39) |
D659E |
probably benign |
Het |
| Nol9 |
A |
G |
4: 152,124,163 (GRCm39) |
S118G |
probably benign |
Het |
| Or4k2 |
C |
T |
14: 50,424,137 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or5p72 |
G |
T |
7: 108,022,326 (GRCm39) |
D183Y |
probably damaging |
Het |
| Pde10a |
T |
A |
17: 9,188,421 (GRCm39) |
I907N |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,655,879 (GRCm39) |
D218G |
probably benign |
Het |
| Poll |
A |
G |
19: 45,542,016 (GRCm39) |
I430T |
probably damaging |
Het |
| Pomgnt1 |
T |
G |
4: 116,010,740 (GRCm39) |
|
probably benign |
Het |
| Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
| Rad1 |
T |
C |
15: 10,488,112 (GRCm39) |
S79P |
probably benign |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Rcc1 |
T |
C |
4: 132,065,125 (GRCm39) |
K133E |
possibly damaging |
Het |
| Rnf135 |
G |
T |
11: 80,087,743 (GRCm39) |
A231S |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,816,645 (GRCm39) |
V146A |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,050 (GRCm39) |
I633V |
possibly damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,781,301 (GRCm39) |
N446K |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,491,445 (GRCm39) |
Y61H |
probably damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,272,343 (GRCm39) |
R445* |
probably null |
Het |
| Smc5 |
T |
C |
19: 23,187,856 (GRCm39) |
M911V |
probably benign |
Het |
| Sntb1 |
C |
A |
15: 55,506,214 (GRCm39) |
R453L |
probably benign |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
| Srrm2 |
CTCCTCTTCTTCCTCTTCTTCCTC |
CTCCTCTTCTTCCTC |
17: 24,041,549 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
G |
7: 63,867,475 (GRCm39) |
|
probably benign |
Het |
| Tufm |
T |
C |
7: 126,089,632 (GRCm39) |
M442T |
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,891,242 (GRCm39) |
N539S |
possibly 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 |
|
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 |
|
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'- AAGATGGAGACTACCTGCCC -3'
(R):5'- ACCTTCTTGTCATCTAGAAACAGGG -3'
Sequencing Primer
(F):5'- ACCGAGTGCCACTTTTCCTATAG -3'
(R):5'- ACAGGGCTCAATGCTGACTGTAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation