Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01863:Lrrc6'

178432

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc6

Ensembl Gene

ENSMUSG00000022375

Gene Name

leucine rich repeat containing 6 (testis)

Synonyms

LRTP

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

66379858-66500910 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 66396974 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023006]

Predicted Effect

probably benign
Transcript: ENSMUST00000023006

SMART Domains

Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375

Domain	Start	End	E-Value	Type
internal_repeat_1	23	65	8.03e-6	PROSPERO
internal_repeat_1	68	109	8.03e-6	PROSPERO
LRRcap	128	146	2.42e-2	SMART
low complexity region	178	204	N/A	INTRINSIC
low complexity region	277	290	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	449	471	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Armc4	T	C	18: 7,222,617	T551A	probably damaging	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Esf1	A	T	2: 140,120,679	M824K	probably benign	Het
Fam46c	C	T	3: 100,472,664	D259N	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lipi	A	C	16: 75,550,226	I435R	probably damaging	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Optn	A	T	2: 5,021,487		probably benign	Het
Pex1	A	G	5: 3,606,066	T298A	probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc30a1	T	A	1: 191,909,084	C281S	probably damaging	Het
Slc4a7	T	A	14: 14,762,430	C509S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Tbc1d2	A	G	4: 46,607,064	I782T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	Het
Wrap73	A	G	4: 154,145,333	I54V	probably benign	Het

Other mutations in Lrrc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Lrrc6	APN	15	66481233	splice site	probably benign
IGL01313:Lrrc6	APN	15	66380513	missense	probably benign	0.00
IGL01739:Lrrc6	APN	15	66449477	missense	probably benign
IGL02074:Lrrc6	APN	15	66489490	missense	probably damaging	1.00
IGL02146:Lrrc6	APN	15	66489525	nonsense	probably null
IGL02146:Lrrc6	APN	15	66489526	missense	probably benign	0.08
IGL03194:Lrrc6	APN	15	66442199	missense	probably benign	0.03
droopy	UTSW	15	66447676	splice site	probably benign
R0087:Lrrc6	UTSW	15	66469975	missense	probably benign	0.00
R0178:Lrrc6	UTSW	15	66454101	missense	probably benign	0.05
R0463:Lrrc6	UTSW	15	66380474	missense	probably benign
R0539:Lrrc6	UTSW	15	66447606	missense	probably damaging	0.99
R0608:Lrrc6	UTSW	15	66380474	missense	probably benign
R1124:Lrrc6	UTSW	15	66438415	missense	possibly damaging	0.92
R2209:Lrrc6	UTSW	15	66449551	missense	probably benign	0.00
R2257:Lrrc6	UTSW	15	66437587	splice site	probably benign
R2844:Lrrc6	UTSW	15	66447676	splice site	probably benign
R2867:Lrrc6	UTSW	15	66438408	nonsense	probably null
R2867:Lrrc6	UTSW	15	66438408	nonsense	probably null
R4281:Lrrc6	UTSW	15	66380529	missense	probably benign	0.35
R5163:Lrrc6	UTSW	15	66442218	missense	probably benign	0.01
R5636:Lrrc6	UTSW	15	66500816	splice site	probably null
R6365:Lrrc6	UTSW	15	66454134	missense	probably benign	0.00
R6567:Lrrc6	UTSW	15	66438379	missense	probably benign	0.43
R7751:Lrrc6	UTSW	15	66449563	missense	probably benign	0.00
R7774:Lrrc6	UTSW	15	66449552	missense	probably benign	0.01
R7963:Lrrc6	UTSW	15	66380517	missense	probably damaging	1.00
Z1177:Lrrc6	UTSW	15	66469899	missense	probably damaging	0.97

Posted On

2014-05-07