Mutagenetix > Incidental Mutation

Incidental Mutation 'R6782:Ric8b'

531478

Institutional Source

Beutler Lab

Gene Symbol

Ric8b

Ensembl Gene

ENSMUSG00000035620

Gene Name

RIC8 guanine nucleotide exchange factor B

Synonyms

Ric-8b, Ric-8

MMRRC Submission

044896-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6782 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84753480-84854201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84783391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 83 (V83A)

Ref Sequence

ENSEMBL: ENSMUSP00000093032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038523] [ENSMUST00000095385] [ENSMUST00000214693]

AlphaFold

Q80XE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038523
AA Change: V83A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046981
Gene: ENSMUSG00000035620
AA Change: V83A

Domain	Start	End	E-Value	Type
Pfam:Ric8	66	538	8.1e-125	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000095385
AA Change: V83A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093032
Gene: ENSMUSG00000035620
AA Change: V83A

Domain	Start	End	E-Value	Type
Pfam:Ric8	66	486	1.2e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214693

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

All alleles(24) : Targeted, other(4) Gene trapped(20)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,847,308 (GRCm39)	A724V	probably damaging	Het
Abcc3	A	T	11: 94,249,776 (GRCm39)	F1055L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd17	T	C	5: 90,402,597 (GRCm39)	K1488R	possibly damaging	Het
Ano1	G	A	7: 144,175,424 (GRCm39)	T498I	probably damaging	Het
Arhgap42	T	A	9: 9,115,721 (GRCm39)	K118N	probably damaging	Het
Arl5b	A	G	2: 15,077,993 (GRCm39)	E106G	probably damaging	Het
Atp5mc3	C	T	2: 73,739,672 (GRCm39)	R56Q	probably benign	Het
Bbx	T	C	16: 50,020,928 (GRCm39)	R749G	probably benign	Het
Cacna1g	A	G	11: 94,350,376 (GRCm39)	S490P	probably damaging	Het
Ccdc63	A	T	5: 122,249,077 (GRCm39)	Y417*	probably null	Het
Cep162	A	T	9: 87,093,737 (GRCm39)	N880K	probably benign	Het
Chd2	G	A	7: 73,125,127 (GRCm39)	Q77*	probably null	Het
Cntrl	T	G	2: 35,060,658 (GRCm39)	M1397R	possibly damaging	Het
Dcaf7	A	G	11: 105,945,581 (GRCm39)	Y310C	probably damaging	Het
Dnah5	T	A	15: 28,449,302 (GRCm39)	S4235T	possibly damaging	Het
Dot1l	C	T	10: 80,625,224 (GRCm39)	P1157L	probably damaging	Het
Esco2	T	C	14: 66,057,465 (GRCm39)	T577A	probably benign	Het
Foxp1	T	C	6: 98,907,106 (GRCm39)	D624G	probably damaging	Het
Gfi1	A	T	5: 107,873,819 (GRCm39)		probably null	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm5113	G	A	7: 29,878,178 (GRCm39)	V89I	probably benign	Het
Gtf3c2	A	C	5: 31,327,180 (GRCm39)	L382R	probably benign	Het
H3c2	T	C	13: 23,936,393 (GRCm39)	S11P	probably benign	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Htr5b	T	C	1: 121,438,227 (GRCm39)	I335V	probably benign	Het
Ifi206	A	G	1: 173,308,923 (GRCm39)	S358P	unknown	Het
Loxhd1	T	A	18: 77,518,873 (GRCm39)	V1893D	probably damaging	Het
Mical2	A	G	7: 111,945,968 (GRCm39)	R11G	probably damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Npr1	T	C	3: 90,363,560 (GRCm39)	N821S	probably benign	Het
Or4g16	A	G	2: 111,137,090 (GRCm39)	D180G	probably damaging	Het
Or52a24	A	G	7: 103,381,549 (GRCm39)	T139A	possibly damaging	Het
Or5p63	T	C	7: 107,811,670 (GRCm39)	D22G	probably benign	Het
Or5p70	T	G	7: 107,994,744 (GRCm39)	M139R	probably damaging	Het
Pi4ka	T	A	16: 17,143,852 (GRCm39)	D739V	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Ptprd	T	C	4: 76,243,377 (GRCm39)		probably null	Het
Ralgapb	G	A	2: 158,278,486 (GRCm39)	G5R	probably damaging	Het
Sdc2	C	A	15: 33,028,281 (GRCm39)	T133K	probably damaging	Het
Slc12a7	T	A	13: 73,947,088 (GRCm39)	V592D	probably damaging	Het
Sorcs1	G	T	19: 50,164,560 (GRCm39)	Y990*	probably null	Het
Spata13	G	T	14: 60,928,912 (GRCm39)	G157W	probably damaging	Het
Tada1	A	G	1: 166,217,541 (GRCm39)	N226S	probably benign	Het
Tenm3	A	G	8: 49,099,291 (GRCm39)		probably null	Het
Tll1	A	G	8: 64,524,315 (GRCm39)	V457A	probably benign	Het
Tmem232	T	C	17: 65,807,119 (GRCm39)	K25E	possibly damaging	Het
Tnrc18	T	C	5: 142,773,063 (GRCm39)	S406G	unknown	Het
Ush2a	A	G	1: 188,089,031 (GRCm39)	M329V	probably benign	Het
Vmn2r107	T	C	17: 20,577,141 (GRCm39)	S380P	probably damaging	Het
Vmn2r73	A	G	7: 85,519,563 (GRCm39)	M465T	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp217	T	C	2: 169,958,178 (GRCm39)	D463G	probably damaging	Het
Zfp345	T	C	2: 150,315,274 (GRCm39)	S88G	probably damaging	Het
Zfp975	A	C	7: 42,311,454 (GRCm39)	N386K	probably benign	Het

Other mutations in Ric8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02254:Ric8b	APN	10	84,816,000 (GRCm39)	missense	probably damaging	1.00
IGL02388:Ric8b	APN	10	84,828,135 (GRCm39)	unclassified	probably benign
IGL02435:Ric8b	APN	10	84,815,940 (GRCm39)	missense	probably benign	0.06
IGL02890:Ric8b	APN	10	84,837,731 (GRCm39)	missense	possibly damaging	0.80
IGL03163:Ric8b	APN	10	84,837,686 (GRCm39)	missense	probably damaging	1.00
IGL03211:Ric8b	APN	10	84,837,657 (GRCm39)	missense	probably damaging	1.00
D4216:Ric8b	UTSW	10	84,851,005 (GRCm39)	missense	probably damaging	0.99
R0491:Ric8b	UTSW	10	84,828,086 (GRCm39)	missense	probably damaging	1.00
R0612:Ric8b	UTSW	10	84,837,745 (GRCm39)	missense	probably damaging	1.00
R1077:Ric8b	UTSW	10	84,806,581 (GRCm39)	splice site	probably benign
R1448:Ric8b	UTSW	10	84,783,535 (GRCm39)	missense	possibly damaging	0.93
R1565:Ric8b	UTSW	10	84,815,963 (GRCm39)	missense	probably benign	0.01
R1617:Ric8b	UTSW	10	84,783,475 (GRCm39)	missense	probably damaging	0.98
R1634:Ric8b	UTSW	10	84,806,612 (GRCm39)	missense	probably damaging	1.00
R1983:Ric8b	UTSW	10	84,837,702 (GRCm39)	missense	probably damaging	0.99
R2339:Ric8b	UTSW	10	84,805,888 (GRCm39)	missense	probably benign	0.00
R2897:Ric8b	UTSW	10	84,783,761 (GRCm39)	missense	probably benign	0.01
R2898:Ric8b	UTSW	10	84,783,761 (GRCm39)	missense	probably benign	0.01
R4657:Ric8b	UTSW	10	84,828,001 (GRCm39)	missense	probably damaging	1.00
R4747:Ric8b	UTSW	10	84,753,628 (GRCm39)	missense	probably benign	0.36
R4953:Ric8b	UTSW	10	84,793,946 (GRCm39)	missense	possibly damaging	0.92
R5277:Ric8b	UTSW	10	84,783,516 (GRCm39)	missense	probably damaging	0.99
R5308:Ric8b	UTSW	10	84,783,611 (GRCm39)	missense	probably benign
R5326:Ric8b	UTSW	10	84,828,076 (GRCm39)	missense	probably damaging	1.00
R6248:Ric8b	UTSW	10	84,783,709 (GRCm39)	missense	probably damaging	1.00
R7548:Ric8b	UTSW	10	84,783,736 (GRCm39)	missense	probably damaging	1.00
R8123:Ric8b	UTSW	10	84,805,737 (GRCm39)	missense	probably damaging	1.00
R8507:Ric8b	UTSW	10	84,816,039 (GRCm39)	missense	probably damaging	1.00
R9119:Ric8b	UTSW	10	84,783,334 (GRCm39)	missense	possibly damaging	0.84
R9417:Ric8b	UTSW	10	84,761,447 (GRCm39)	missense	probably benign	0.03
R9698:Ric8b	UTSW	10	84,783,361 (GRCm39)	missense	probably damaging	0.97
Z1176:Ric8b	UTSW	10	84,783,408 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCCATATCTTTAGCCTGCATTGG -3'
(R):5'- TAGGAGGTTACAGAGCTTTGC -3'

Sequencing Primer
(F):5'- GCCTGCATTGGTAGAAAATACTC -3'
(R):5'- TGCAGCGAGATTCAGTTCCAG -3'

Posted On

2018-08-29