Mutagenetix > Incidental Mutation

Incidental Mutation 'R9698:Ric8b'

729446

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9698 (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 84783361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 73 (L73P)

Ref Sequence

ENSEMBL: ENSMUSP00000046981 (fasta)

Gene Model

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

AlphaFold

Q80XE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038523
AA Change: L73P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046981
Gene: ENSMUSG00000035620
AA Change: L73P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095385
AA Change: L73P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093032
Gene: ENSMUSG00000035620
AA Change: L73P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214693

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,571,757 (GRCm39)	M1124V	probably benign	Het
Adamts9	A	G	6: 92,784,121 (GRCm39)	C1578R	probably damaging	Het
Adprs	T	C	4: 126,210,514 (GRCm39)	D322G	probably damaging	Het
Anks3	T	C	16: 4,766,113 (GRCm39)	E327G	probably benign	Het
Aspm	T	G	1: 139,389,646 (GRCm39)	N689K	probably benign	Het
Bsn	T	A	9: 107,993,170 (GRCm39)	I861F	probably damaging	Het
Camk2d	C	T	3: 126,633,833 (GRCm39)	H452Y	possibly damaging	Het
Cerk	T	C	15: 86,026,995 (GRCm39)	K477E	probably benign	Het
Cntn6	T	A	6: 104,810,044 (GRCm39)	Y575*	probably null	Het
Copg2	T	C	6: 30,838,373 (GRCm39)	E141G	probably damaging	Het
D430041D05Rik	A	G	2: 103,985,396 (GRCm39)	S1224P	probably damaging	Het
Dhrs3	T	C	4: 144,646,508 (GRCm39)	I186T	possibly damaging	Het
Erich2	A	G	2: 70,371,055 (GRCm39)	D431G	unknown	Het
Fmn2	T	A	1: 174,364,739 (GRCm39)	C559S	unknown	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Hoxa13	T	C	6: 52,236,024 (GRCm39)	T174A	probably benign	Het
Hrh3	A	G	2: 179,743,206 (GRCm39)	S141P	possibly damaging	Het
Hrnr	T	C	3: 93,233,094 (GRCm39)	S1111P	unknown	Het
Il12rb1	G	T	8: 71,263,848 (GRCm39)	Q136H	possibly damaging	Het
Kcna3	T	C	3: 106,944,405 (GRCm39)	S223P	probably benign	Het
Map10	T	A	8: 126,398,723 (GRCm39)	N705K	probably benign	Het
Marf1	C	A	16: 13,967,077 (GRCm39)	V345L	probably benign	Het
Mcub	C	T	3: 129,710,668 (GRCm39)	D255N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mroh3	T	C	1: 136,114,452 (GRCm39)	T625A	probably damaging	Het
Myo18a	A	G	11: 77,720,681 (GRCm39)	Y1152C	probably damaging	Het
Ncdn	T	C	4: 126,643,688 (GRCm39)	Y378C	probably damaging	Het
Or1e30	T	C	11: 73,678,442 (GRCm39)	L226P	probably damaging	Het
Or2m13	A	T	16: 19,226,342 (GRCm39)	C141*	probably null	Het
Or55b4	G	A	7: 102,133,377 (GRCm39)	Q317*	probably null	Het
Pcm1	T	C	8: 41,723,541 (GRCm39)	L342P	possibly damaging	Het
Pdlim1	T	A	19: 40,218,959 (GRCm39)	D224V	probably benign	Het
Plxnb1	A	G	9: 108,925,251 (GRCm39)		probably benign	Het
Pot1a	T	C	6: 25,744,615 (GRCm39)	I630V	probably damaging	Het
Ppil4	A	G	10: 7,683,033 (GRCm39)		probably null	Het
Ptpru	A	T	4: 131,547,531 (GRCm39)	I174K	probably benign	Het
Rab11fip4	T	A	11: 79,583,592 (GRCm39)	L612Q	probably damaging	Het
Rassf4	A	G	6: 116,618,662 (GRCm39)	L207P	probably damaging	Het
Reg3g	A	C	6: 78,444,805 (GRCm39)	S58A	probably benign	Het
Rmdn2	A	G	17: 79,957,729 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc46a2	A	G	4: 59,912,582 (GRCm39)	S397P	probably damaging	Het
Smpd3	A	T	8: 106,992,296 (GRCm39)	S86T	possibly damaging	Het
Sumf1	T	C	6: 108,131,923 (GRCm39)	H198R	probably benign	Het
Tagap1	C	G	17: 7,228,477 (GRCm39)	D18H	probably damaging	Het
Tcf23	C	T	5: 31,126,225 (GRCm39)	R35C	probably damaging	Het
Tdpoz8	T	A	3: 92,981,727 (GRCm39)	D174E	possibly damaging	Het
Tenm3	G	A	8: 48,689,246 (GRCm39)	L2114F	probably damaging	Het
Ttn	A	T	2: 76,773,718 (GRCm39)	I2301K	unknown	Het
Ubr4	A	G	4: 139,167,975 (GRCm39)	E1496G		Het
Usp48	T	C	4: 137,361,202 (GRCm39)	V756A	possibly damaging	Het
Zfp626	A	G	7: 27,518,440 (GRCm39)	I474V	possibly damaging	Het
Zfpm1	T	A	8: 123,063,868 (GRCm39)	S976T	unknown	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
R6782:Ric8b	UTSW	10	84,783,391 (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
Z1176:Ric8b	UTSW	10	84,783,408 (GRCm39)	missense	probably benign	0.04

Predicted Primers

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

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

Posted On

2022-10-06