Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Ric8a'

189032

Institutional Source

Beutler Lab

Gene Symbol

Ric8a

Ensembl Gene

ENSMUSG00000025485

Gene Name

RIC8 guanine nucleotide exchange factor A

Synonyms

synembryn, RIC-8, Ric8

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1655 (G1)

Quality Score

146

Status

Not validated

Chromosome

Chromosomal Location

140856957-140864372 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140860895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 94 (C94R)

Ref Sequence

ENSEMBL: ENSMUSP00000147952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026557] [ENSMUST00000026558] [ENSMUST00000026559] [ENSMUST00000106048] [ENSMUST00000137024] [ENSMUST00000209320] [ENSMUST00000209690] [ENSMUST00000209766] [ENSMUST00000211590] [ENSMUST00000211179] [ENSMUST00000210710] [ENSMUST00000211527] [ENSMUST00000211624] [ENSMUST00000210708] [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 benign
Transcript: ENSMUST00000026558
AA Change: C329R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
AA Change: C329R

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: ENSMUST00000139956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209318

Predicted Effect

probably benign
Transcript: ENSMUST00000209320

Predicted Effect

probably benign
Transcript: ENSMUST00000209690

Predicted Effect

probably benign
Transcript: ENSMUST00000209766
AA Change: C94R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210195

Predicted Effect

probably benign
Transcript: ENSMUST00000211590

Predicted Effect

probably benign
Transcript: ENSMUST00000211179

Predicted Effect

probably benign
Transcript: ENSMUST00000210710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210601

Predicted Effect

probably benign
Transcript: ENSMUST00000211527

Predicted Effect

probably benign
Transcript: ENSMUST00000211624

Predicted Effect

probably benign
Transcript: ENSMUST00000210708

Predicted Effect

probably benign
Transcript: ENSMUST00000210296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210157

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	A	T	9: 51,083,621	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333		probably benign	Het
Abca1	C	T	4: 53,050,964	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340	T19K	unknown	Het
Disp1	A	T	1: 183,087,004	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866		probably null	Het
Ermn	C	T	2: 58,052,584	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245		probably null	Het
Nlrp4a	A	T	7: 26,449,651	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596	F231L	probably damaging	Het
Rictor	T	A	15: 6,772,212	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782	D427G	probably benign	Het
Scai	A	T	2: 39,080,117	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Supt5	T	C	7: 28,330,024	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216	Y346*	probably null	Het
Tg	T	G	15: 66,828,568		probably null	Het
Top1	T	A	2: 160,703,696		probably null	Het
Trmt12	T	C	15: 58,873,227	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051	V999E	probably benign	Het
Virma	T	C	4: 11,494,786	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554	V709A	possibly damaging	Het

Other mutations in Ric8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02158:Ric8a	APN	7	140,862,357 (GRCm38)	missense	probably benign	0.00
R0277:Ric8a	UTSW	7	140,857,900 (GRCm38)	unclassified	probably benign
R0529:Ric8a	UTSW	7	140,860,893 (GRCm38)	missense	probably damaging	1.00
R0707:Ric8a	UTSW	7	140,857,973 (GRCm38)	unclassified	probably benign
R1272:Ric8a	UTSW	7	140,862,376 (GRCm38)	missense	probably benign	0.22
R1627:Ric8a	UTSW	7	140,858,178 (GRCm38)	missense	probably damaging	0.98
R2281:Ric8a	UTSW	7	140,861,938 (GRCm38)	missense	probably benign	0.44
R2327:Ric8a	UTSW	7	140,859,558 (GRCm38)	missense	probably damaging	1.00
R3721:Ric8a	UTSW	7	140,861,961 (GRCm38)	critical splice donor site	probably null
R4287:Ric8a	UTSW	7	140,861,422 (GRCm38)	missense	probably damaging	1.00
R4504:Ric8a	UTSW	7	140,858,516 (GRCm38)	missense	probably benign	0.03
R4505:Ric8a	UTSW	7	140,858,516 (GRCm38)	missense	probably benign	0.03
R4506:Ric8a	UTSW	7	140,858,516 (GRCm38)	missense	probably benign	0.03
R4507:Ric8a	UTSW	7	140,858,516 (GRCm38)	missense	probably benign	0.03
R4552:Ric8a	UTSW	7	140,861,337 (GRCm38)	missense	probably damaging	1.00
R5500:Ric8a	UTSW	7	140,858,315 (GRCm38)	missense	probably benign	0.43
R6737:Ric8a	UTSW	7	140,858,876 (GRCm38)	splice site	probably null
R8150:Ric8a	UTSW	7	140,861,356 (GRCm38)	missense	probably damaging	1.00
R8391:Ric8a	UTSW	7	140,858,003 (GRCm38)	missense	probably benign	0.00
R8788:Ric8a	UTSW	7	140,858,893 (GRCm38)	missense	probably benign	0.00
R8966:Ric8a	UTSW	7	140,858,466 (GRCm38)	missense	probably benign
R9449:Ric8a	UTSW	7	140,857,480 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGACACCCAGCACCATCTTTGGC -3'
(R):5'- CTTGATGAATCGGGGCACTGAAGAC -3'

Sequencing Primer
(F):5'- AGCACCATCTTTGGCTCTTAG -3'
(R):5'- AGGAACTCGGCAGCTACTC -3'

Posted On

2014-05-09