Mutagenetix > Incidental Mutation

Incidental Mutation 'R6737:Ric8a'

530240

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

044855-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6737 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140437310-140443644 bp(+) (GRCm39)

Type of Mutation

splice site (4794 bp from exon)

DNA Base Change (assembly)

T to C at 140438789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026557] [ENSMUST00000026558] [ENSMUST00000026559] [ENSMUST00000106048] [ENSMUST00000209766] [ENSMUST00000210708] [ENSMUST00000210296] [ENSMUST00000209690] [ENSMUST00000209320] [ENSMUST00000210710] [ENSMUST00000211590] [ENSMUST00000211624] [ENSMUST00000211179] [ENSMUST00000211527]

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

possibly damaging
Transcript: ENSMUST00000026558
AA Change: L246P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
AA Change: L246P

Domain	Start	End	E-Value	Type
Pfam:Ric8	66	505	2.3e-125	PFAM

Predicted Effect

probably null
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 null
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

noncoding transcript
Transcript: ENSMUST00000139956

Predicted Effect

probably damaging
Transcript: ENSMUST00000209766
AA Change: L11P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000210708

Predicted Effect

probably benign
Transcript: ENSMUST00000210296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153498

Predicted Effect

probably benign
Transcript: ENSMUST00000209690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152212

Predicted Effect

probably benign
Transcript: ENSMUST00000209320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210157

Predicted Effect

probably benign
Transcript: ENSMUST00000210710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210601

Predicted Effect

probably benign
Transcript: ENSMUST00000211590

Predicted Effect

probably benign
Transcript: ENSMUST00000211624

Predicted Effect

probably null
Transcript: ENSMUST00000211179

Predicted Effect

probably benign
Transcript: ENSMUST00000211527

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,456 (GRCm39)	R114G	probably damaging	Het
Atm	A	T	9: 53,397,351 (GRCm39)	S1661T	probably benign	Het
Castor1	A	G	11: 4,171,685 (GRCm39)	D303G	probably damaging	Het
Cd69	C	T	6: 129,245,262 (GRCm39)	A188T	probably benign	Het
Cecr2	G	T	6: 120,714,084 (GRCm39)	L225F	possibly damaging	Het
Cep295	A	G	9: 15,243,647 (GRCm39)	V1603A	possibly damaging	Het
Clec4g	T	C	8: 3,757,716 (GRCm39)		probably benign	Het
Clptm1	A	T	7: 19,371,001 (GRCm39)		probably null	Het
Crybg2	G	T	4: 133,800,001 (GRCm39)	G387V	probably damaging	Het
Ctcf	T	A	8: 106,391,140 (GRCm39)	M249K	probably benign	Het
Ctnnd2	C	A	15: 30,966,980 (GRCm39)	S952*	probably null	Het
Cxcr2	T	C	1: 74,197,790 (GRCm39)	F95L	probably benign	Het
Ddx55	C	A	5: 124,691,008 (GRCm39)	T5K	probably damaging	Het
Depp1	G	T	6: 116,629,058 (GRCm39)	V134L	possibly damaging	Het
Eif2ak2	T	C	17: 79,171,377 (GRCm39)	N342S	probably benign	Het
Eif2ak4	TGG	TG	2: 118,292,749 (GRCm39)		probably null	Het
Epb41l2	C	G	10: 25,364,916 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,513 (GRCm39)	K493E	probably damaging	Het
Fndc7	C	A	3: 108,779,594 (GRCm39)	V317L	probably damaging	Het
Fpr-rs6	T	C	17: 20,403,339 (GRCm39)	I7M	probably benign	Het
Gal3st1	T	A	11: 3,948,903 (GRCm39)	I370N	probably benign	Het
Glo1	C	T	17: 30,816,814 (GRCm39)	S114N	probably benign	Het
Grik1	T	C	16: 87,848,279 (GRCm39)	D163G	probably damaging	Het
Grxcr1	T	C	5: 68,267,835 (GRCm39)	C195R	probably damaging	Het
Hdac9	T	C	12: 34,265,451 (GRCm39)	N806S	probably damaging	Het
Igfn1	T	C	1: 135,897,605 (GRCm39)	N987S	probably benign	Het
Klhl29	G	T	12: 5,260,124 (GRCm39)	S31R	possibly damaging	Het
Lama4	C	T	10: 38,970,907 (GRCm39)	R1491C	probably damaging	Het
Lmtk3	T	C	7: 45,443,051 (GRCm39)	L578P	probably damaging	Het
Lrrk2	A	C	15: 91,607,421 (GRCm39)	M595L	possibly damaging	Het
Mmp27	A	T	9: 7,571,955 (GRCm39)	N52Y	possibly damaging	Het
Mrc1	C	T	2: 14,276,088 (GRCm39)	A474V	possibly damaging	Het
Msl1	A	G	11: 98,694,908 (GRCm39)	H134R	probably damaging	Het
Muc5b	T	C	7: 141,411,236 (GRCm39)	M1394T	unknown	Het
Myof	G	A	19: 37,931,962 (GRCm39)	T968I	probably benign	Het
Nat8f2	A	T	6: 85,845,194 (GRCm39)	M56K	probably benign	Het
Ncoa5	C	T	2: 164,844,055 (GRCm39)	G116D	probably damaging	Het
Ndst2	A	G	14: 20,777,562 (GRCm39)	L494P	probably damaging	Het
Nfatc3	T	A	8: 106,810,601 (GRCm39)	V459E	probably damaging	Het
Nup133	A	T	8: 124,633,030 (GRCm39)	Y1034N	probably damaging	Het
Nup153	A	T	13: 46,842,682 (GRCm39)	S829T	probably benign	Het
Or3a1b	A	G	11: 74,012,732 (GRCm39)	S206G	probably benign	Het
Or4f47	T	C	2: 111,972,548 (GRCm39)	F86S	probably damaging	Het
Or52a24	C	T	7: 103,381,357 (GRCm39)	L75F	probably damaging	Het
Or5ac19	A	G	16: 59,089,175 (GRCm39)	L285P	possibly damaging	Het
Pcdh18	C	A	3: 49,710,344 (GRCm39)	V324F	probably damaging	Het
Pcdhb5	T	A	18: 37,455,723 (GRCm39)	L701H	probably damaging	Het
Plau	T	G	14: 20,887,884 (GRCm39)	Y43D	probably damaging	Het
Pld5	T	A	1: 175,917,588 (GRCm39)	N53I	probably damaging	Het
Pon2	T	A	6: 5,266,183 (GRCm39)	I279F	probably benign	Het
Prep	A	T	10: 44,973,591 (GRCm39)	K233I	possibly damaging	Het
Rap1b	T	C	10: 117,658,713 (GRCm39)	Y40C	probably damaging	Het
Rnf19b	T	C	4: 128,979,344 (GRCm39)		probably benign	Het
Rpl9-ps6	A	C	19: 32,443,727 (GRCm39)	S75R	probably damaging	Het
Sh3bp2	A	G	5: 34,719,818 (GRCm39)	Y609C	probably damaging	Het
Skint5	T	C	4: 113,392,936 (GRCm39)	N1232S	unknown	Het
Slc28a1	T	G	7: 80,818,996 (GRCm39)	V615G	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snx13	T	G	12: 35,190,185 (GRCm39)	N845K	probably damaging	Het
Srms	T	C	2: 180,851,253 (GRCm39)	Y171C	probably damaging	Het
Supt6	A	G	11: 78,122,644 (GRCm39)	L193P	probably damaging	Het
Syt7	G	A	19: 10,421,408 (GRCm39)	V531M	probably damaging	Het
Tmem255b	T	C	8: 13,507,096 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,650,235 (GRCm39)	K449N	possibly damaging	Het
Trim29	A	T	9: 43,230,681 (GRCm39)	D288V	probably benign	Het
Ttc13	T	A	8: 125,408,900 (GRCm39)		probably null	Het
Uchl3	A	T	14: 101,928,033 (GRCm39)	D167V	probably damaging	Het
Ugt3a1	T	C	15: 9,311,895 (GRCm39)	V379A	probably benign	Het
Vps13b	A	G	15: 35,910,757 (GRCm39)	D3507G	probably damaging	Het
Wfdc2	A	T	2: 164,405,362 (GRCm39)	K88*	probably null	Het
Ylpm1	C	A	12: 85,077,620 (GRCm39)	H1448Q	probably damaging	Het
Zc3h14	A	G	12: 98,751,305 (GRCm39)	K667E	probably 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
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
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'- ACCTCAGCTTGCAGGGTATC -3'
(R):5'- GTGCTTCTGATTCACAACTAGG -3'

Sequencing Primer
(F):5'- CCTCAGCTTGCAGGGTATCAGATATG -3'
(R):5'- GGGTTAAGGACTTCTGTACCCATAC -3'

Posted On

2018-08-01