Mutagenetix > Incidental Mutation

Incidental Mutation 'R5800:Lrrc8b'

447344

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8b

Ensembl Gene

ENSMUSG00000070639

Gene Name

leucine rich repeat containing 8 family, member B

Synonyms

R75581

MMRRC Submission

043389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R5800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105415775-105490074 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105481342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 518 (S518L)

Ref Sequence

ENSEMBL: ENSMUSP00000108327 (fasta)

Gene Model

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

AlphaFold

Q5DU41

Predicted Effect

probably benign
Transcript: ENSMUST00000112707
AA Change: S518L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: S518L

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

Meta Mutation Damage Score

0.0912

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	G	A	17: 23,717,992	P72S	probably damaging	Het
4932438A13Rik	A	G	3: 37,052,443	D4974G	probably damaging	Het
Abca12	A	T	1: 71,321,432	V540D	possibly damaging	Het
Adamts8	A	T	9: 30,954,482	D442V	probably damaging	Het
Casp4	G	A	9: 5,308,915		probably null	Het
Cfap45	T	A	1: 172,538,600	V30E	probably damaging	Het
Col6a4	A	G	9: 106,080,275	F117L	probably damaging	Het
Dnah7c	A	T	1: 46,647,015	T1810S	probably benign	Het
Drosha	C	T	15: 12,865,067	T627M	probably damaging	Het
Drosha	C	A	15: 12,902,647	A1001D	probably damaging	Het
Efhc1	G	A	1: 20,978,781	V473I	probably benign	Het
Ephx2	T	C	14: 66,107,302	K191R	probably benign	Het
Ero1lb	T	A	13: 12,602,301		probably null	Het
Esyt2	A	T	12: 116,370,188	D837V	possibly damaging	Het
Fip1l1	T	A	5: 74,546,081	D126E	possibly damaging	Het
Fyttd1	C	T	16: 32,891,288	R86C	probably damaging	Het
Gm12888	T	A	4: 121,319,428	T59S	probably damaging	Het
Gm34653	T	C	2: 34,838,642	F151S	possibly damaging	Het
Gm7353	A	T	7: 3,110,168		noncoding transcript	Het
Gpr153	C	T	4: 152,280,077	Q197*	probably null	Het
H2-T23	G	T	17: 36,031,604		probably benign	Het
Ighv1-16	T	A	12: 114,665,911	R85S	probably benign	Het
Ipcef1	T	A	10: 6,890,569	D376V	probably damaging	Het
Kdm1a	T	A	4: 136,573,070		probably null	Het
Klk1b27	A	T	7: 44,055,664	Q85L	probably benign	Het
Krt39	A	T	11: 99,521,145	D38E	probably benign	Het
L1td1	T	C	4: 98,733,762	L187P	possibly damaging	Het
Lyg1	C	T	1: 37,946,953	D176N	probably damaging	Het
Mctp1	A	G	13: 76,688,559	N82D	probably damaging	Het
Muc6	T	C	7: 141,640,423		probably benign	Het
Nynrin	T	C	14: 55,870,631	L1065P	probably damaging	Het
Olfr1474	T	C	19: 13,471,896	S309P	probably benign	Het
Pcdh7	T	A	5: 57,722,225	S1041T	probably damaging	Het
Pkd1l1	T	A	11: 8,861,302	M1518L	probably benign	Het
Prl8a6	G	T	13: 27,435,470	Q90K	probably benign	Het
Ptcd1	T	A	5: 145,159,665	D206V	probably damaging	Het
Rap1gap	C	A	4: 137,720,377	D478E	probably benign	Het
Scn5a	A	G	9: 119,501,666	Y1269H	probably damaging	Het
Sdc2	A	T	15: 33,028,144	H136L	probably benign	Het
Senp6	A	T	9: 80,126,433	I120F	probably damaging	Het
Shisa5	G	A	9: 109,056,094		probably null	Het
Slc19a1	A	G	10: 77,042,269	S213G	probably null	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Tbc1d20	T	A	2: 152,308,325		probably null	Het
Tll2	T	C	19: 41,104,934	H481R	probably benign	Het
Tmc7	A	G	7: 118,539,440	V692A	probably benign	Het
Tmem234	T	C	4: 129,607,131		probably null	Het
Vmn1r237	C	G	17: 21,314,807	T264S	probably benign	Het
Vmn2r98	A	T	17: 19,065,998	T253S	probably benign	Het
Zfyve27	T	C	19: 42,182,663	Y191H	probably damaging	Het

Other mutations in Lrrc8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Lrrc8b	APN	5	105480499	missense	probably damaging	0.96
IGL00519:Lrrc8b	APN	5	105481725	missense	possibly damaging	0.82
IGL01732:Lrrc8b	APN	5	105485960	missense	probably damaging	1.00
IGL01799:Lrrc8b	APN	5	105485891	missense	probably benign
IGL02005:Lrrc8b	APN	5	105481054	missense	probably benign	0.22
IGL02205:Lrrc8b	APN	5	105481837	missense	probably benign	0.07
IGL03038:Lrrc8b	APN	5	105481492	missense	probably damaging	0.98
IGL03076:Lrrc8b	APN	5	105481549	missense	probably damaging	1.00
sospecho	UTSW	5	105480756	missense	probably damaging	1.00
Whiff	UTSW	5	105480271	missense	possibly damaging	0.80
IGL02796:Lrrc8b	UTSW	5	105481345	missense	probably damaging	1.00
R0647:Lrrc8b	UTSW	5	105480607	missense	possibly damaging	0.69
R0722:Lrrc8b	UTSW	5	105480112	missense	possibly damaging	0.89
R1382:Lrrc8b	UTSW	5	105480883	missense	probably damaging	1.00
R1437:Lrrc8b	UTSW	5	105481702	missense	probably damaging	1.00
R1801:Lrrc8b	UTSW	5	105480823	missense	probably damaging	1.00
R1888:Lrrc8b	UTSW	5	105481351	missense	probably benign	0.12
R1888:Lrrc8b	UTSW	5	105481351	missense	probably benign	0.12
R2169:Lrrc8b	UTSW	5	105481887	missense	probably damaging	0.99
R4514:Lrrc8b	UTSW	5	105479953	missense	probably damaging	1.00
R4898:Lrrc8b	UTSW	5	105480214	missense	probably benign	0.19
R5243:Lrrc8b	UTSW	5	105480946	missense	probably damaging	1.00
R5264:Lrrc8b	UTSW	5	105480252	missense	probably damaging	0.98
R5424:Lrrc8b	UTSW	5	105480703	missense	probably damaging	1.00
R5513:Lrrc8b	UTSW	5	105485984	missense	probably damaging	1.00
R5632:Lrrc8b	UTSW	5	105480297	missense	possibly damaging	0.81
R5799:Lrrc8b	UTSW	5	105481342	missense	probably benign	0.19
R6637:Lrrc8b	UTSW	5	105480271	missense	possibly damaging	0.80
R7249:Lrrc8b	UTSW	5	105481267	missense	probably benign	0.23
R7253:Lrrc8b	UTSW	5	105481656	missense	probably benign	0.01
R7558:Lrrc8b	UTSW	5	105481711	missense	probably damaging	1.00
R8077:Lrrc8b	UTSW	5	105480017	missense	possibly damaging	0.48
R8423:Lrrc8b	UTSW	5	105480756	missense	probably damaging	1.00
R8480:Lrrc8b	UTSW	5	105485936	missense	probably damaging	1.00
R8765:Lrrc8b	UTSW	5	105481267	missense	probably benign
R8841:Lrrc8b	UTSW	5	105480322	missense	probably benign	0.00
R8912:Lrrc8b	UTSW	5	105481558	missense	probably damaging	1.00
R9040:Lrrc8b	UTSW	5	105480295	missense	probably benign	0.02
R9432:Lrrc8b	UTSW	5	105486022	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AGATGGAAGTGCTGAGCCTG -3'
(R):5'- AGTTTGCTTCCCTCATTATCAAGG -3'

Sequencing Primer
(F):5'- TGATCCCGGAAGTCAAGCTG -3'
(R):5'- TATCAAGGGACAGCTTCTGC -3'

Posted On

2016-12-15