Mutagenetix > Incidental Mutations

Incidental Mutation 'R8034:Lcn6'

618113

Institutional Source

Beutler Lab

Gene Symbol

Lcn6

Ensembl Gene

ENSMUSG00000045684

Gene Name

lipocalin 6

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25676786-25681608 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 25676871 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 19 (L19*)

Ref Sequence

ENSEMBL: ENSMUSP00000109837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059693] [ENSMUST00000114197] [ENSMUST00000114199]

Predicted Effect

probably benign
Transcript: ENSMUST00000059693

SMART Domains

Protein: ENSMUSP00000055660
Gene: ENSMUSG00000045684

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	7	106	1.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114197

SMART Domains

Protein: ENSMUSP00000109835
Gene: ENSMUSG00000045684

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	7	106	4.8e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114199
AA Change: L19*

SMART Domains

Protein: ENSMUSP00000109837
Gene: ENSMUSG00000045684
AA Change: L19*

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Lipocalin	33	172	2.6e-12	PFAM

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice with loss of expression in the testes show premature acrosome reaction and elevated intracellular calcium levels in sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
C130026I21Rik	T	A	1: 85,254,160	T180S	probably benign	Het
Ccdc80	A	G	16: 45,122,875	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856	F41L	probably benign	Het
Eif3e	A	T	15: 43,272,307	M112K	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551	L783F	probably damaging	Het
Mlf1	A	T	3: 67,384,588	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,735,089	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Tead3	A	C	17: 28,333,229	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	probably damaging	Het

Other mutations in Lcn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Lcn6	APN	2	25680780	missense	probably benign	0.29
R0747:Lcn6	UTSW	2	25677172	missense	probably damaging	1.00
R1387:Lcn6	UTSW	2	25677137	missense	possibly damaging	0.86
R1500:Lcn6	UTSW	2	25677119	missense	probably benign	0.00
R1654:Lcn6	UTSW	2	25680775	unclassified	probably null
R3005:Lcn6	UTSW	2	25677249	intron	probably null
R4821:Lcn6	UTSW	2	25680810	missense	probably damaging	1.00
R4972:Lcn6	UTSW	2	25680067	missense	probably damaging	1.00
R5011:Lcn6	UTSW	2	25677070	splice site	probably null
R5013:Lcn6	UTSW	2	25677070	splice site	probably null
R7779:Lcn6	UTSW	2	25680793	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACAGTTTAACAGCGCCCTC -3'
(R):5'- ACCTAGCTGTCCTCCCTCAAAG -3'

Sequencing Primer
(F):5'- CCACCCTGAGTAATTTGGCTTTGAG -3'
(R):5'- AAGTTCCCTCTGTCGCACAAC -3'

Posted On

2020-01-23