Mutagenetix > Incidental Mutation

Incidental Mutation 'R4506:Ric8a'

332014

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

041584-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140856957-140864372 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140858516 bp (GRCm38)

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: ENSMUST00000152212

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

Meta Mutation Damage Score

0.0662

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (42/43)

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
1700012B07Rik	G	T	11: 109,794,261	P137T	probably damaging	Het
Abcc5	A	T	16: 20,333,695	I1367N	probably damaging	Het
Ace	T	A	11: 105,976,666	L152Q	probably damaging	Het
Adam19	G	A	11: 46,118,444	D232N	possibly damaging	Het
Anapc4	A	T	5: 52,835,730	N61I	possibly damaging	Het
Ap5m1	T	C	14: 49,073,761	V96A	probably damaging	Het
Atr	T	A	9: 95,865,237	C191S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,499,476		probably benign	Het
Cnot6l	A	T	5: 96,086,174	V326E	possibly damaging	Het
Fcer2a	A	T	8: 3,688,603		probably null	Het
Fgfr3	A	G	5: 33,729,999	T221A	probably damaging	Het
Gm6632	C	T	5: 59,054,478		noncoding transcript	Het
Gm8909	A	T	17: 36,161,480		probably benign	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Ip6k3	A	T	17: 27,145,180	L298Q	possibly damaging	Het
Itpr1	A	G	6: 108,432,686	D1727G	probably damaging	Het
Kdm2b	T	C	5: 122,888,625	T589A	possibly damaging	Het
Krtcap2	A	G	3: 89,246,256		probably benign	Het
Map3k13	A	G	16: 21,922,178	S752G	probably benign	Het
Mvb12a	G	T	8: 71,543,459	A86S	probably benign	Het
Nktr	T	A	9: 121,748,883		probably benign	Het
Olfr160	C	T	9: 37,711,464	V272I	probably benign	Het
Olfr393	A	T	11: 73,847,695	C143*	probably null	Het
Parp4	T	A	14: 56,652,304	N1847K	unknown	Het
Pcdhga8	G	C	18: 37,816,763	V411L	probably damaging	Het
Piwil4	T	C	9: 14,725,963	T352A	probably damaging	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
Slc7a5	A	T	8: 121,887,495		probably null	Het
Slc7a9	A	T	7: 35,453,420	T88S	probably damaging	Het
Tbrg1	T	A	9: 37,654,395	E87V	probably damaging	Het
Tnfsf4	T	C	1: 161,417,174	S145P	probably damaging	Het
Tomm34	C	A	2: 164,054,372		probably null	Het
Trpv3	A	G	11: 73,295,324	N647S	probably benign	Het
Upf1	G	A	8: 70,337,566	R637C	probably damaging	Het
Vmn2r23	A	T	6: 123,702,925	Q35H	probably damaging	Het
Wdtc1	C	T	4: 133,308,819	V137M	probably damaging	Het
Zfp276	G	A	8: 123,264,927		probably null	Het
Zfp90	C	T	8: 106,424,864	P403L	possibly damaging	Het

Other mutations in Ric8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02158:Ric8a	APN	7	140862357	missense	probably benign	0.00
R0277:Ric8a	UTSW	7	140857900	unclassified	probably benign
R0529:Ric8a	UTSW	7	140860893	missense	probably damaging	1.00
R0707:Ric8a	UTSW	7	140857973	unclassified	probably benign
R1272:Ric8a	UTSW	7	140862376	missense	probably benign	0.22
R1627:Ric8a	UTSW	7	140858178	missense	probably damaging	0.98
R1655:Ric8a	UTSW	7	140860895	missense	probably benign	0.01
R2281:Ric8a	UTSW	7	140861938	missense	probably benign	0.44
R2327:Ric8a	UTSW	7	140859558	missense	probably damaging	1.00
R3721:Ric8a	UTSW	7	140861961	critical splice donor site	probably null
R4287:Ric8a	UTSW	7	140861422	missense	probably damaging	1.00
R4504:Ric8a	UTSW	7	140858516	missense	probably benign	0.03
R4505:Ric8a	UTSW	7	140858516	missense	probably benign	0.03
R4507:Ric8a	UTSW	7	140858516	missense	probably benign	0.03
R4552:Ric8a	UTSW	7	140861337	missense	probably damaging	1.00
R5500:Ric8a	UTSW	7	140858315	missense	probably benign	0.43
R6737:Ric8a	UTSW	7	140858876	splice site	probably null
R8150:Ric8a	UTSW	7	140861356	missense	probably damaging	1.00
R8391:Ric8a	UTSW	7	140858003	missense	probably benign	0.00
R8788:Ric8a	UTSW	7	140858893	missense	probably benign	0.00
R8966:Ric8a	UTSW	7	140858466	missense	probably benign
R9449:Ric8a	UTSW	7	140857480	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCTCCTTTTCCTGCTAACAG -3'
(R):5'- CACTGTGGAGAATACCCACCTG -3'

Sequencing Primer
(F):5'- TAACAGCCCTTCGCACGG -3'
(R):5'- AGGCACCTTCCCTGAGTTC -3'

Posted On

2015-07-21