Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03194:Lrrc6'

412738

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: 0.157) question?

Stock #

IGL03194

Quality Score

Status

Chromosome

Chromosomal Location

66379858-66500910 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66442199 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 317 (D317E)

Ref Sequence

ENSEMBL: ENSMUSP00000023006 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023006
AA Change: D317E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375
AA Change: D317E

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 83,734,018	S64G	possibly damaging	Het
Clcn7	T	C	17: 25,150,548	V306A	probably damaging	Het
Clec4b2	G	A	6: 123,200,987	G87D	probably benign	Het
Disp2	A	T	2: 118,787,629	R219W	probably damaging	Het
Dstyk	A	T	1: 132,456,316		probably benign	Het
F830045P16Rik	T	C	2: 129,460,320	S451G	possibly damaging	Het
Fam155a	T	C	8: 9,232,975	D358G	probably damaging	Het
Fat2	T	A	11: 55,310,995	T418S	probably benign	Het
Fto	G	A	8: 91,409,787	D228N	probably damaging	Het
Gins4	A	T	8: 23,234,746		probably benign	Het
Gm10220	T	A	5: 26,121,233	R40W	probably damaging	Het
Gm11149	G	A	9: 49,546,346		probably benign	Het
Gm5431	T	G	11: 48,895,537		probably benign	Het
Hebp1	A	G	6: 135,155,192	M59T	probably benign	Het
Lrp1	A	T	10: 127,568,685	V1989D	probably damaging	Het
Ltc4s	T	C	11: 50,236,571	*151W	probably null	Het
Map3k21	A	G	8: 125,924,062	T268A	possibly damaging	Het
Mdp1	A	G	14: 55,658,987	L164P	probably damaging	Het
Mroh4	T	C	15: 74,611,539	T650A	probably damaging	Het
Mss51	T	C	14: 20,485,097	N202D	probably benign	Het
Mtus2	G	A	5: 148,107,103	A834T	probably damaging	Het
Ncoa6	A	G	2: 155,415,868	M585T	possibly damaging	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Npvf	A	C	6: 50,650,898	D180E	possibly damaging	Het
Nup188	A	T	2: 30,304,334	Y173F	possibly damaging	Het
Oas3	C	A	5: 120,758,953	A868S	probably damaging	Het
Pkhd1l1	A	G	15: 44,518,135	T1086A	probably damaging	Het
Pla2g6	G	A	15: 79,317,785	P62L	probably damaging	Het
Rara	T	C	11: 98,971,664	M297T	possibly damaging	Het
Tmc1	T	C	19: 20,804,653	E567G	probably damaging	Het
Tnxb	C	T	17: 34,695,947	Q1970*	probably null	Het
Usp11	T	C	X: 20,712,417	I162T	probably benign	Het
Utrn	A	G	10: 12,406,429		probably benign	Het
Zfhx3	A	G	8: 108,794,727	E827G	probably damaging	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
IGL01863:Lrrc6	APN	15	66396974	splice site	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
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	utr 5 prime	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

Posted On

2016-08-02