Mutagenetix > Incidental Mutation

Incidental Mutation 'R7779:Lcn6'

599047

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 #

R7779 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25676786-25681608 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25680793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 131 (V131A)

Ref Sequence

ENSEMBL: ENSMUSP00000109837 (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: V65A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055660
Gene: ENSMUSG00000045684
AA Change: V65A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114197
AA Change: V65A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109835
Gene: ENSMUSG00000045684
AA Change: V65A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114199
AA Change: V131A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109837
Gene: ENSMUSG00000045684
AA Change: V131A

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: 99.2%

Validation Efficiency

98% (92/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,225,320	V563E	probably damaging	Het
Adra1d	A	G	2: 131,561,885	V95A	probably damaging	Het
Ak7	A	C	12: 105,742,350	I355L	probably benign	Het
Ank1	G	A	8: 23,096,747		probably null	Het
Apol7c	A	T	15: 77,525,746	H333Q	probably damaging	Het
Arfgef3	T	C	10: 18,595,023	M1665V	probably damaging	Het
Arid5b	A	G	10: 68,096,776	Y1099H	probably damaging	Het
Atp8b1	A	G	18: 64,541,382	S943P	probably damaging	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bco1	A	G	8: 117,117,396	Y283C	probably damaging	Het
Brd4	A	T	17: 32,212,936	D652E	probably benign	Het
Cacna1s	G	A	1: 136,119,029	A1799T	probably damaging	Het
Camsap3	A	G	8: 3,597,887	Y65C	probably damaging	Het
Capn1	T	C	19: 5,994,086	K535E	probably benign	Het
Cbl	A	G	9: 44,159,096	S480P	probably benign	Het
Cfap99	A	C	5: 34,311,664	N294T	probably benign	Het
Defa24	A	C	8: 21,735,339	S82R	probably benign	Het
Dnaic2	T	C	11: 114,754,409	F557L	possibly damaging	Het
Dnhd1	T	A	7: 105,677,915	H690Q	probably benign	Het
Dock2	A	G	11: 34,714,455	V279A	probably benign	Het
Dst	T	A	1: 34,194,597	V3462E	probably damaging	Het
E2f3	T	G	13: 29,918,615	H221P	probably damaging	Het
Eif2b4	A	T	5: 31,190,654	I238N	probably damaging	Het
Eno4	T	C	19: 58,968,543	S530P	probably benign	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Etl4	C	T	2: 20,709,477	T129I	probably damaging	Het
Extl1	A	G	4: 134,357,703	F652S	probably damaging	Het
Extl1	T	C	4: 134,360,597	K449E	probably benign	Het
F13b	T	A	1: 139,516,386	V486E	probably benign	Het
Fbln2	T	A	6: 91,233,194	L40Q	probably damaging	Het
Glp2r	C	T	11: 67,709,783	W413*	probably null	Het
Grin2b	A	T	6: 135,778,794	Y507*	probably null	Het
H2-M11	G	T	17: 36,548,806	L230F	probably benign	Het
Il1f6	T	C	2: 24,216,601	Y66H	probably damaging	Het
Itpr1	A	G	6: 108,523,348	E2634G	possibly damaging	Het
Itpr3	A	T	17: 27,096,063	Y728F	probably damaging	Het
Jak1	C	T	4: 101,160,142	E764K	probably benign	Het
Jak3	G	T	8: 71,687,288	R1045L	probably benign	Het
Jam2	T	C	16: 84,809,383	I95T	probably damaging	Het
Kdf1	T	C	4: 133,528,485	V171A	probably damaging	Het
Lactbl1	A	T	4: 136,630,996	K93*	probably null	Het
Lpar5	T	A	6: 125,082,244	D309E	probably damaging	Het
Lrfn4	T	C	19: 4,613,687	E273G	probably damaging	Het
Lta4h	C	T	10: 93,474,949	T447I	probably benign	Het
Lyst	A	G	13: 13,634,543	E266G	probably damaging	Het
Mab21l1	A	T	3: 55,783,375	I128F	possibly damaging	Het
Mrgprb4	T	G	7: 48,199,147	N11T	probably benign	Het
Mroh6	G	A	15: 75,888,656	T23I	possibly damaging	Het
Myo1f	T	C	17: 33,578,273	I143T	probably benign	Het
Myof	C	T	19: 37,939,390	D1092N	probably damaging	Het
Ncan	G	T	8: 70,115,011	D150E	probably damaging	Het
Olfr1392	T	A	11: 49,294,221	L300Q	probably damaging	Het
Olfr412	T	A	11: 74,364,945	I92N	probably damaging	Het
Olfr794	A	T	10: 129,571,311	I219F	probably damaging	Het
Pcm1	A	G	8: 41,329,024	Y1948C	probably damaging	Het
Pcsk6	A	T	7: 66,025,404	T669S	probably benign	Het
Pdlim5	A	C	3: 142,242,686	N613K	probably benign	Het
Pdzk1	T	A	3: 96,857,273	V291D	probably damaging	Het
Plbd2	T	C	5: 120,487,678	Q408R	probably damaging	Het
Ppp1r37	C	A	7: 19,532,787	A392S	possibly damaging	Het
Proser2	T	A	2: 6,103,067		probably null	Het
Psmd12	T	C	11: 107,497,579	V406A	probably benign	Het
Rab3gap2	T	C	1: 185,259,444	V709A	probably damaging	Het
Radil	T	C	5: 142,487,565	E787G	probably benign	Het
Rai14	A	C	15: 10,593,026	D177E	probably damaging	Het
Rbms2	G	A	10: 128,143,446	T166I	probably damaging	Het
Rrh	C	T	3: 129,815,320	C115Y	probably benign	Het
Slc1a6	C	T	10: 78,795,955	T205I	probably damaging	Het
Sost	T	C	11: 101,966,849	E42G	possibly damaging	Het
Spcs3	T	A	8: 54,529,770	I46F	possibly damaging	Het
Spg11	A	G	2: 122,070,939	S1507P	probably damaging	Het
Sprtn	C	T	8: 124,898,243	P29L	possibly damaging	Het
Sptan1	C	T	2: 30,021,307	T1886I	probably damaging	Het
Strn4	T	C	7: 16,831,492	F394S	probably damaging	Het
Syt14	A	T	1: 192,984,443	M51K	unknown	Het
Terb2	A	G	2: 122,186,494	K32R	probably benign	Het
Tex15	G	A	8: 33,575,281	G1580R	probably damaging	Het
Thumpd3	T	C	6: 113,059,989	V283A	probably damaging	Het
Tm7sf2	T	C	19: 6,062,917	Y418C	possibly damaging	Het
Trim24	T	G	6: 37,919,397	F263C	probably damaging	Het
Trim24	T	A	6: 37,919,398	F263L	probably damaging	Het
Trip11	A	G	12: 101,883,537	S1423P	probably damaging	Het
Vps13c	G	A	9: 67,881,422	V326M	probably damaging	Het
Vps37c	T	C	19: 10,712,624	V150A	probably damaging	Het
Wdr90	C	T	17: 25,846,326	R1652Q	probably damaging	Het
Wfdc9	A	G	2: 164,650,596	V37A	probably damaging	Het
Yif1b	T	A	7: 29,245,903	M227K	probably damaging	Het
Zbtb18	T	C	1: 177,446,939		probably benign	Het
Zfp318	A	G	17: 46,399,894	T848A	probably benign	Het
Zfp808	T	A	13: 62,172,757	I600K	possibly damaging	Het
Zmym1	C	A	4: 127,054,245	S111I	probably benign	Het
Zmym2	A	G	14: 56,928,283	T688A	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	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
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
R9740:Lcn6	UTSW	2	25681179	missense	probably benign	0.00
R9749:Lcn6	UTSW	2	25680022	start codon destroyed	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGGCCAACCCCAGTTTTAC -3'
(R):5'- GAGCCTGCTGTTGAGACAAG -3'

Sequencing Primer
(F):5'- TACACCTGGTTGGCACGATG -3'
(R):5'- CCTGCTGTTGAGACAAGAAGCC -3'

Posted On

2019-11-26