Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02005:Lrrc8b'

183157

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc8b

Ensembl Gene

ENSMUSG00000070639

Gene Name

leucine rich repeat containing 8 family, member B

Synonyms

R75581, 2210408K08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

IGL02005

Quality Score

Status

Chromosome

Chromosomal Location

105563641-105637940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105628920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 422 (V422D)

Ref Sequence

ENSEMBL: ENSMUSP00000108327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112707]

AlphaFold

Q5DU41

Predicted Effect

probably benign
Transcript: ENSMUST00000112707
AA Change: V422D

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: V422D

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	334	2.9e-133	PFAM
LRR	509	536	5.27e1	SMART
LRR	584	607	2.03e1	SMART
LRR	632	654	1.97e1	SMART
LRR_TYP	655	678	4.79e-3	SMART
LRR	679	700	3.09e1	SMART
LRR_TYP	701	724	4.17e-3	SMART
LRR	747	770	2.17e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,965,927 (GRCm39)	D141G	probably damaging	Het
Ankhd1	T	G	18: 36,781,479 (GRCm39)	L2177R	probably damaging	Het
Arhgap23	A	T	11: 97,382,045 (GRCm39)	D1136V	probably damaging	Het
Atp6v1b1	A	G	6: 83,730,896 (GRCm39)		probably benign	Het
Atxn1	T	C	13: 45,721,701 (GRCm39)	T65A	probably benign	Het
Bbs4	A	G	9: 59,243,638 (GRCm39)		probably benign	Het
Bms1	G	A	6: 118,381,546 (GRCm39)	T664M	probably damaging	Het
Bod1l	T	C	5: 41,973,682 (GRCm39)	D2544G	probably benign	Het
Cdhr2	C	T	13: 54,867,576 (GRCm39)	H469Y	probably benign	Het
Cep57l1	T	C	10: 41,616,957 (GRCm39)	D110G	probably benign	Het
Chd4	G	A	6: 125,105,779 (GRCm39)	E1786K	possibly damaging	Het
Cltc	T	C	11: 86,621,045 (GRCm39)	K321E	possibly damaging	Het
Col6a2	T	C	10: 76,446,007 (GRCm39)	D383G	probably damaging	Het
Crcp	T	G	5: 130,071,074 (GRCm39)	C58G	probably benign	Het
Ctc1	A	G	11: 68,921,975 (GRCm39)	Y807C	probably damaging	Het
Eml4	T	A	17: 83,785,132 (GRCm39)		probably benign	Het
Glce	A	T	9: 61,967,859 (GRCm39)	L431I	probably damaging	Het
Glp1r	C	A	17: 31,143,585 (GRCm39)	T207K	probably benign	Het
Gm28042	G	A	2: 119,865,115 (GRCm39)	V247I	possibly damaging	Het
Gvin-ps5	G	T	7: 105,928,627 (GRCm39)	F423L	unknown	Het
Hcrtr1	T	A	4: 130,031,056 (GRCm39)	H76L	probably benign	Het
Hoxb13	G	A	11: 96,085,435 (GRCm39)	G56D	probably damaging	Het
Hykk	A	G	9: 54,827,842 (GRCm39)	E27G	possibly damaging	Het
Kars1	A	T	8: 112,726,736 (GRCm39)	L321*	probably null	Het
Klhl12	A	T	1: 134,391,652 (GRCm39)	T95S	possibly damaging	Het
Klhl14	A	T	18: 21,757,668 (GRCm39)	Y347*	probably null	Het
Kmt5b	A	G	19: 3,836,538 (GRCm39)	H25R	possibly damaging	Het
Krtap12-1	T	A	10: 77,556,823 (GRCm39)	V122D	probably damaging	Het
Lrrc66	T	C	5: 73,766,077 (GRCm39)	D322G	possibly damaging	Het
Med12l	T	G	3: 59,152,368 (GRCm39)	M1051R	probably damaging	Het
Mmrn1	A	G	6: 60,937,728 (GRCm39)	Y242C	probably damaging	Het
Ncf2	A	T	1: 152,692,803 (GRCm39)	I107L	possibly damaging	Het
Or6b13	C	T	7: 139,782,345 (GRCm39)	E113K	probably damaging	Het
Pdlim4	T	C	11: 53,950,810 (GRCm39)	D93G	probably benign	Het
Pgap1	C	A	1: 54,590,214 (GRCm39)	A75S	probably damaging	Het
Pkd1	A	G	17: 24,804,978 (GRCm39)	D3209G	possibly damaging	Het
Prcp	T	C	7: 92,577,032 (GRCm39)	S319P	probably benign	Het
Rasal2	G	A	1: 156,984,568 (GRCm39)	Q1035*	probably null	Het
Ryr3	A	T	2: 112,493,608 (GRCm39)		probably benign	Het
Scaf8	T	C	17: 3,236,145 (GRCm39)	I544T	probably damaging	Het
Svep1	A	T	4: 58,069,056 (GRCm39)	V2910E	possibly damaging	Het
Tln2	C	T	9: 67,299,787 (GRCm39)	R155Q	possibly damaging	Het
Trpm7	A	T	2: 126,655,104 (GRCm39)	L1278H	probably damaging	Het
Tti2	G	T	8: 31,645,858 (GRCm39)	G391C	probably damaging	Het
Ttn	C	T	2: 76,778,363 (GRCm39)	M1295I	possibly damaging	Het
Ttn	T	C	2: 76,554,313 (GRCm39)		probably benign	Het
Vmn1r170	G	A	7: 23,306,338 (GRCm39)	V247M	probably damaging	Het
Wdr48	T	C	9: 119,734,455 (GRCm39)	Y125H	probably damaging	Het
Wdtc1	C	T	4: 133,036,225 (GRCm39)	R105H	probably benign	Het
Zc3h11a	A	G	1: 133,549,880 (GRCm39)	S699P	probably benign	Het
Zkscan14	C	T	5: 145,132,419 (GRCm39)	V371I	probably benign	Het
Zzef1	A	T	11: 72,779,125 (GRCm39)	Y1862F	probably benign	Het

Other mutations in Lrrc8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Lrrc8b	APN	5	105,628,365 (GRCm39)	missense	probably damaging	0.96
IGL00519:Lrrc8b	APN	5	105,629,591 (GRCm39)	missense	possibly damaging	0.82
IGL01732:Lrrc8b	APN	5	105,633,826 (GRCm39)	missense	probably damaging	1.00
IGL01799:Lrrc8b	APN	5	105,633,757 (GRCm39)	missense	probably benign
IGL02205:Lrrc8b	APN	5	105,629,703 (GRCm39)	missense	probably benign	0.07
IGL03038:Lrrc8b	APN	5	105,629,358 (GRCm39)	missense	probably damaging	0.98
IGL03076:Lrrc8b	APN	5	105,629,415 (GRCm39)	missense	probably damaging	1.00
sospecho	UTSW	5	105,628,622 (GRCm39)	missense	probably damaging	1.00
Whiff	UTSW	5	105,628,137 (GRCm39)	missense	possibly damaging	0.80
IGL02796:Lrrc8b	UTSW	5	105,629,211 (GRCm39)	missense	probably damaging	1.00
R0647:Lrrc8b	UTSW	5	105,628,473 (GRCm39)	missense	possibly damaging	0.69
R0722:Lrrc8b	UTSW	5	105,627,978 (GRCm39)	missense	possibly damaging	0.89
R1382:Lrrc8b	UTSW	5	105,628,749 (GRCm39)	missense	probably damaging	1.00
R1437:Lrrc8b	UTSW	5	105,629,568 (GRCm39)	missense	probably damaging	1.00
R1801:Lrrc8b	UTSW	5	105,628,689 (GRCm39)	missense	probably damaging	1.00
R1888:Lrrc8b	UTSW	5	105,629,217 (GRCm39)	missense	probably benign	0.12
R1888:Lrrc8b	UTSW	5	105,629,217 (GRCm39)	missense	probably benign	0.12
R2169:Lrrc8b	UTSW	5	105,629,753 (GRCm39)	missense	probably damaging	0.99
R4514:Lrrc8b	UTSW	5	105,627,819 (GRCm39)	missense	probably damaging	1.00
R4898:Lrrc8b	UTSW	5	105,628,080 (GRCm39)	missense	probably benign	0.19
R5243:Lrrc8b	UTSW	5	105,628,812 (GRCm39)	missense	probably damaging	1.00
R5264:Lrrc8b	UTSW	5	105,628,118 (GRCm39)	missense	probably damaging	0.98
R5424:Lrrc8b	UTSW	5	105,628,569 (GRCm39)	missense	probably damaging	1.00
R5513:Lrrc8b	UTSW	5	105,633,850 (GRCm39)	missense	probably damaging	1.00
R5632:Lrrc8b	UTSW	5	105,628,163 (GRCm39)	missense	possibly damaging	0.81
R5799:Lrrc8b	UTSW	5	105,629,208 (GRCm39)	missense	probably benign	0.19
R5800:Lrrc8b	UTSW	5	105,629,208 (GRCm39)	missense	probably benign	0.19
R6637:Lrrc8b	UTSW	5	105,628,137 (GRCm39)	missense	possibly damaging	0.80
R7249:Lrrc8b	UTSW	5	105,629,133 (GRCm39)	missense	probably benign	0.23
R7253:Lrrc8b	UTSW	5	105,629,522 (GRCm39)	missense	probably benign	0.01
R7558:Lrrc8b	UTSW	5	105,629,577 (GRCm39)	missense	probably damaging	1.00
R8077:Lrrc8b	UTSW	5	105,627,883 (GRCm39)	missense	possibly damaging	0.48
R8423:Lrrc8b	UTSW	5	105,628,622 (GRCm39)	missense	probably damaging	1.00
R8480:Lrrc8b	UTSW	5	105,633,802 (GRCm39)	missense	probably damaging	1.00
R8765:Lrrc8b	UTSW	5	105,629,133 (GRCm39)	missense	probably benign
R8841:Lrrc8b	UTSW	5	105,628,188 (GRCm39)	missense	probably benign	0.00
R8912:Lrrc8b	UTSW	5	105,629,424 (GRCm39)	missense	probably damaging	1.00
R9040:Lrrc8b	UTSW	5	105,628,161 (GRCm39)	missense	probably benign	0.02
R9432:Lrrc8b	UTSW	5	105,633,888 (GRCm39)	missense	probably benign	0.07

Posted On

2014-05-07