Mutagenetix > Incidental Mutation

Incidental Mutation 'R9740:Lcn6'

731781

Institutional Source

Beutler Lab

Gene Symbol

Lcn6

Ensembl Gene

ENSMUSG00000045684

Gene Name

lipocalin 6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R9740 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25676786-25681608 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25681179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 110 (T110S)

Ref Sequence

ENSEMBL: ENSMUSP00000109835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058912] [ENSMUST00000059693] [ENSMUST00000114197] [ENSMUST00000114199]

AlphaFold

A2AJB9

Predicted Effect

probably benign
Transcript: ENSMUST00000058912

SMART Domains

Protein: ENSMUSP00000059353
Gene: ENSMUSG00000047356

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Lipocalin	36	169	1.6e-8	PFAM

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
AA Change: T110S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109835
Gene: ENSMUSG00000045684
AA Change: T110S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114199

SMART Domains

Protein: ENSMUSP00000109837
Gene: ENSMUSG00000045684

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	G	11: 5,871,721	Y1087D	probably benign	Het
Bdh1	A	G	16: 31,438,035	M37V	possibly damaging	Het
Bnip3l	G	A	14: 67,008,765	P7L	possibly damaging	Het
Clec1b	C	T	6: 129,403,586	S155L	probably benign	Het
Crym	A	T	7: 120,195,438	V186D	probably benign	Het
D6Ertd527e	G	C	6: 87,111,857	S334T	unknown	Het
Det1	A	T	7: 78,844,253	M1K	probably null	Het
Fam110b	A	G	4: 5,799,070	K163E	probably benign	Het
Fam234a	A	T	17: 26,213,815	V482E	probably damaging	Het
Grin2b	A	G	6: 135,922,870		probably null	Het
Herc1	A	G	9: 66,448,514	E2349G	probably damaging	Het
Kdsr	A	G	1: 106,739,396	Y210H	possibly damaging	Het
Macf1	T	C	4: 123,372,384	H6807R	probably damaging	Het
Macf1	T	C	4: 123,473,060	Y2636C	probably damaging	Het
Myh2	T	G	11: 67,189,226	I1115S	probably damaging	Het
Npepl1	C	A	2: 174,121,490	N438K	probably damaging	Het
Nrros	G	A	16: 32,144,849	H117Y	possibly damaging	Het
Olfr1148	T	C	2: 87,833,551	S171P	probably damaging	Het
Pitpnm3	T	C	11: 72,056,276	T782A	probably benign	Het
Pla2g4d	T	G	2: 120,277,471	Q319P	probably damaging	Het
Ptcd1	A	T	5: 145,159,484	D266E	probably benign	Het
Slitrk6	A	C	14: 110,749,998	L759W	probably damaging	Het
Slitrk6	T	G	14: 110,750,012	L754F	probably benign	Het
Sox5	A	T	6: 144,155,221	M14K	probably damaging	Het
Ssmem1	T	A	6: 30,512,455	D32E	possibly damaging	Het
St18	A	T	1: 6,803,063	R341*	probably null	Het
Stag1	T	C	9: 100,705,235	S4P	probably damaging	Het
Suz12	G	T	11: 79,999,094	E144*	probably null	Het
Tex52	A	G	6: 128,379,710	N122S	possibly damaging	Het
Tmem2	A	T	19: 21,844,741	M1167L	probably benign	Het
Tril	A	G	6: 53,818,119	L706P	possibly damaging	Het
Trim65	T	C	11: 116,130,608	D133G	probably benign	Het
Ttc6	A	T	12: 57,689,710	I1166F	probably damaging	Het
Zfp709	C	T	8: 71,889,290	R188C	probably damaging	Het
Zfp974	A	G	7: 27,910,600	C567R	probably damaging	Het
Zmiz1	A	G	14: 25,656,826	D842G	possibly 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	splice site	probably null
R3005:Lcn6	UTSW	2	25677249	splice site	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
R8034:Lcn6	UTSW	2	25676871	nonsense	probably null
R8558:Lcn6	UTSW	2	25680706	missense	probably damaging	1.00
R8697:Lcn6	UTSW	2	25677154	missense	probably benign	0.01
R9227:Lcn6	UTSW	2	25680095	missense	probably damaging	1.00
R9312:Lcn6	UTSW	2	25680062	missense	probably benign	0.23
R9749:Lcn6	UTSW	2	25680022	start codon destroyed	probably benign

Predicted Primers

PCR Primer
(F):5'- CCATGCAGCTATTCACCAAATGG -3'
(R):5'- CACAGGCTTTGAAGATGGTCC -3'

Sequencing Primer
(F):5'- GGCTTCTTGTCTCAACAGCAGG -3'
(R):5'- TGGTCCACCCAGAGCCC -3'

Posted On

2022-11-14