Mutagenetix > Incidental Mutation

Incidental Mutation 'R8966:Ric8a'

682741

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

068800-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8966 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140437310-140443644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140438379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 206 (E206G)

Ref Sequence

ENSEMBL: ENSMUSP00000026558 (fasta)

Gene Model

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

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: E206G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
AA Change: E206G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209320

Predicted Effect

probably benign
Transcript: ENSMUST00000209690

Predicted Effect

probably benign
Transcript: ENSMUST00000209766

Predicted Effect

probably benign
Transcript: ENSMUST00000210708

Predicted Effect

probably benign
Transcript: ENSMUST00000210710

Predicted Effect

probably benign
Transcript: ENSMUST00000211527

Predicted Effect

probably benign
Transcript: ENSMUST00000211590

Predicted Effect

probably benign
Transcript: ENSMUST00000211624

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	T	1: 16,151,062 (GRCm39)	M40K	possibly damaging	Het
Aak1	A	C	6: 86,964,234 (GRCm39)	N945T	unknown	Het
Abca13	C	G	11: 9,578,588 (GRCm39)	D4863E	probably damaging	Het
Abca8a	C	T	11: 109,962,245 (GRCm39)		probably null	Het
Alppl2	T	A	1: 87,015,210 (GRCm39)	N413I	probably damaging	Het
Asb13	T	A	13: 3,692,093 (GRCm39)	H24Q	probably damaging	Het
Atg9b	A	G	5: 24,596,200 (GRCm39)		probably null	Het
Atp2b4	T	A	1: 133,666,317 (GRCm39)	H245L	probably benign	Het
B3galt2	A	C	1: 143,521,883 (GRCm39)	R6S	probably damaging	Het
B4galnt2	T	C	11: 95,781,811 (GRCm39)	H118R	probably damaging	Het
Ccdc121rt2	T	A	5: 112,598,103 (GRCm39)	W217R	probably damaging	Het
Clca3b	A	G	3: 144,544,872 (GRCm39)	S372P	probably benign	Het
Cnn1	T	C	9: 22,010,716 (GRCm39)		probably null	Het
Cpne6	C	T	14: 55,750,060 (GRCm39)	R64C	probably damaging	Het
Csmd1	T	A	8: 16,250,059 (GRCm39)	H973L	probably damaging	Het
Dennd5b	A	T	6: 148,901,474 (GRCm39)	H1137Q	probably damaging	Het
Dnah3	G	T	7: 119,549,881 (GRCm39)	Y500*	probably null	Het
Dnajc19	A	G	3: 34,132,893 (GRCm39)	V104A	unknown	Het
Eea1	G	A	10: 95,832,901 (GRCm39)	E249K	probably damaging	Het
Eif1ad19	G	T	12: 87,740,273 (GRCm39)	Y95*	probably null	Het
Fancc	T	C	13: 63,495,285 (GRCm39)	Q213R	probably benign	Het
Gabrr1	A	G	4: 33,152,411 (GRCm39)		probably null	Het
Hgd	T	A	16: 37,431,532 (GRCm39)	V113E	probably damaging	Het
Ints7	T	C	1: 191,351,717 (GRCm39)	S809P	probably benign	Het
Lrrcc1	T	C	3: 14,602,359 (GRCm39)	C151R	probably damaging	Het
Marveld3	T	C	8: 110,675,019 (GRCm39)	S266G	possibly damaging	Het
Mdn1	C	T	4: 32,672,837 (GRCm39)	Q486*	probably null	Het
Mstn	G	T	1: 53,105,641 (GRCm39)	V328L	probably benign	Het
Ndc80	C	A	17: 71,815,573 (GRCm39)	G404V	probably benign	Het
Nelfb	T	C	2: 25,090,751 (GRCm39)	R557G	probably damaging	Het
Nol10	T	G	12: 17,419,507 (GRCm39)	V266G	possibly damaging	Het
Optc	C	A	1: 133,828,872 (GRCm39)	A245S	probably damaging	Het
Or51a43	A	G	7: 103,718,139 (GRCm39)	L33P	probably damaging	Het
Or52ae7	A	T	7: 103,119,524 (GRCm39)	I93F	probably benign	Het
Or5b111	A	T	19: 13,291,196 (GRCm39)	F151Y	probably damaging	Het
Or6c75	A	T	10: 129,336,951 (GRCm39)	Y58F	probably damaging	Het
Or8i2	T	A	2: 86,852,879 (GRCm39)	E3V	possibly damaging	Het
Pcdhb11	A	G	18: 37,556,037 (GRCm39)	T456A	possibly damaging	Het
Pkd1	A	G	17: 24,794,751 (GRCm39)	E2146G	possibly damaging	Het
Pkdrej	A	T	15: 85,702,012 (GRCm39)	I1308N	probably damaging	Het
Plekha3	A	T	2: 76,523,006 (GRCm39)	I225F	probably benign	Het
Ppp1r3c	A	T	19: 36,711,736 (GRCm39)	D11E	probably benign	Het
Pprc1	A	G	19: 46,054,118 (GRCm39)	D1155G	unknown	Het
Prcc	T	C	3: 87,792,232 (GRCm39)	K140E	probably damaging	Het
Pth1r	A	T	9: 110,554,229 (GRCm39)	V334D	possibly damaging	Het
Rab3d	G	A	9: 21,826,060 (GRCm39)	T118M	probably damaging	Het
Rps17	C	A	7: 80,994,660 (GRCm39)	V34L	probably benign	Het
Serpinb13	T	C	1: 106,928,165 (GRCm39)	S262P	probably damaging	Het
Serpinb6b	T	A	13: 33,162,035 (GRCm39)	L278Q	probably damaging	Het
Slc1a3	C	T	15: 8,680,332 (GRCm39)		probably null	Het
Slc27a5	C	A	7: 12,725,090 (GRCm39)	R452S	probably benign	Het
Slc45a2	T	A	15: 11,001,122 (GRCm39)	W74R	probably damaging	Het
Slc4a2	A	G	5: 24,635,092 (GRCm39)	T175A	probably benign	Het
Sos1	C	A	17: 80,705,879 (GRCm39)	G1231C	possibly damaging	Het
Spata32	T	C	11: 103,100,143 (GRCm39)	T121A	probably damaging	Het
Srd5a3	T	A	5: 76,301,437 (GRCm39)	F222Y	probably benign	Het
Stag3	T	C	5: 138,289,666 (GRCm39)	Y279H	probably damaging	Het
Stk31	T	C	6: 49,423,134 (GRCm39)	I795T	possibly damaging	Het
Syne2	T	C	12: 76,146,197 (GRCm39)	I1665T	probably damaging	Het
Tas2r118	A	G	6: 23,970,020 (GRCm39)	Y14H	probably damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tnik	T	G	3: 28,587,044 (GRCm39)	M105R	unknown	Het
Trrap	A	G	5: 144,740,162 (GRCm39)	T1195A	probably damaging	Het
Usf1	T	A	1: 171,245,101 (GRCm39)		probably null	Het
Usp53	G	A	3: 122,754,981 (GRCm39)	T158I	probably damaging	Het
Uty	T	C	Y: 1,099,748 (GRCm39)	E1149G	possibly damaging	Het
Vmn2r23	G	A	6: 123,719,079 (GRCm39)	V811M	possibly damaging	Het
Zfp663	T	A	2: 165,194,958 (GRCm39)	K420N	probably damaging	Het
Zfp703	T	C	8: 27,468,302 (GRCm39)	S91P	possibly damaging	Het
Zpld2	T	C	4: 133,929,712 (GRCm39)	T198A	probably damaging	Het
Zscan4-ps1	A	C	7: 10,800,250 (GRCm39)	I213S	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
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
R9449:Ric8a	UTSW	7	140,437,393 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGTCCAACAGCACAGATG -3'
(R):5'- CCCTGCAAGCTGAGGTACAAAG -3'

Sequencing Primer
(F):5'- GAGCGTGTGGGACTGTACC -3'
(R):5'- GTACAAAGGGAAGCAAACTGTCCC -3'

Posted On

2021-10-11