Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01086:Lcn6'

50460

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lcn6

Ensembl Gene

ENSMUSG00000045684

Gene Name

lipocalin 6

Synonyms

9230101D24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL01086

Quality Score

Status

Chromosome

Chromosomal Location

25566798-25571620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25570792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 61 (F61L)

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
AA Change: F61L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000055660
Gene: ENSMUSG00000045684
AA Change: F61L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114197
AA Change: F61L

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109835
Gene: ENSMUSG00000045684
AA Change: F61L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114199
AA Change: F127L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109837
Gene: ENSMUSG00000045684
AA Change: F127L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139441

Coding Region Coverage

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
1700016H13Rik	T	A	5: 103,796,729 (GRCm39)	R104S	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Aim2	A	G	1: 173,282,999 (GRCm39)	Y27C	probably damaging	Het
Apol7b	T	C	15: 77,308,114 (GRCm39)	E127G	probably damaging	Het
Atp10a	T	C	7: 58,474,066 (GRCm39)	F1118L	probably damaging	Het
Cacna1e	T	C	1: 154,347,347 (GRCm39)	D940G	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Clip4	G	A	17: 72,131,789 (GRCm39)	V376I	probably benign	Het
Cmklr2	T	C	1: 63,222,650 (GRCm39)	E195G	probably benign	Het
Coro6	C	A	11: 77,357,374 (GRCm39)	C194*	probably null	Het
Crebbp	T	C	16: 3,997,416 (GRCm39)	M223V	probably benign	Het
Dkk4	T	A	8: 23,116,857 (GRCm39)	C157S	probably damaging	Het
Dnah14	T	C	1: 181,579,611 (GRCm39)	L3048S	probably benign	Het
Dscaml1	T	C	9: 45,613,960 (GRCm39)		probably benign	Het
Gria2	T	C	3: 80,599,688 (GRCm39)	Y732C	probably damaging	Het
Igkv4-59	T	C	6: 69,415,707 (GRCm39)	I7V	probably benign	Het
Lamc3	T	C	2: 31,788,488 (GRCm39)	F216S	probably damaging	Het
Nup205	T	A	6: 35,185,871 (GRCm39)		probably benign	Het
Or5w18	T	A	2: 87,633,544 (GRCm39)	Y266*	probably null	Het
Otof	C	T	5: 30,533,617 (GRCm39)		probably null	Het
Pik3c2b	T	C	1: 133,019,356 (GRCm39)	C1035R	probably damaging	Het
Pla1a	T	C	16: 38,227,984 (GRCm39)	N298D	probably benign	Het
Poteg	T	A	8: 27,963,648 (GRCm39)		probably benign	Het
Pwp1	T	C	10: 85,715,757 (GRCm39)		probably null	Het
Scel	A	G	14: 103,849,827 (GRCm39)	I631V	probably benign	Het
Scn3a	T	A	2: 65,300,503 (GRCm39)	M1288L	probably benign	Het
Serpina11	T	A	12: 103,952,329 (GRCm39)	D147V	probably damaging	Het
Shroom3	T	A	5: 93,096,311 (GRCm39)	C1266S	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Srms	A	G	2: 180,854,216 (GRCm39)	V117A	probably damaging	Het
Tmem161b	T	C	13: 84,370,541 (GRCm39)		probably benign	Het
Tmem94	A	T	11: 115,681,110 (GRCm39)	T158S	probably benign	Het
Tomm40l	T	C	1: 171,047,878 (GRCm39)		probably null	Het
Traf6	A	G	2: 101,515,128 (GRCm39)	I95V	probably benign	Het
Ttc13	A	G	8: 125,402,085 (GRCm39)	I686T	probably damaging	Het
Zmat2	C	T	18: 36,929,163 (GRCm39)	H104Y	probably damaging	Het

Other mutations in Lcn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0747:Lcn6	UTSW	2	25,567,184 (GRCm39)	missense	probably damaging	1.00
R1387:Lcn6	UTSW	2	25,567,149 (GRCm39)	missense	possibly damaging	0.86
R1500:Lcn6	UTSW	2	25,567,131 (GRCm39)	missense	probably benign	0.00
R1654:Lcn6	UTSW	2	25,570,787 (GRCm39)	splice site	probably null
R3005:Lcn6	UTSW	2	25,567,261 (GRCm39)	splice site	probably null
R4821:Lcn6	UTSW	2	25,570,822 (GRCm39)	missense	probably damaging	1.00
R4972:Lcn6	UTSW	2	25,570,079 (GRCm39)	missense	probably damaging	1.00
R5011:Lcn6	UTSW	2	25,567,082 (GRCm39)	splice site	probably null
R5013:Lcn6	UTSW	2	25,567,082 (GRCm39)	splice site	probably null
R7779:Lcn6	UTSW	2	25,570,805 (GRCm39)	missense	probably benign
R8034:Lcn6	UTSW	2	25,566,883 (GRCm39)	nonsense	probably null
R8558:Lcn6	UTSW	2	25,570,718 (GRCm39)	missense	probably damaging	1.00
R8697:Lcn6	UTSW	2	25,567,166 (GRCm39)	missense	probably benign	0.01
R9227:Lcn6	UTSW	2	25,570,107 (GRCm39)	missense	probably damaging	1.00
R9312:Lcn6	UTSW	2	25,570,074 (GRCm39)	missense	probably benign	0.23
R9740:Lcn6	UTSW	2	25,571,191 (GRCm39)	missense	probably benign	0.00
R9749:Lcn6	UTSW	2	25,570,034 (GRCm39)	start codon destroyed	probably benign

Posted On

2013-06-21