Mutagenetix > Incidental Mutation

Incidental Mutation 'R8697:Lcn6'

668756

Institutional Source

Beutler Lab

Gene Symbol

Lcn6

Ensembl Gene

ENSMUSG00000045684

Gene Name

lipocalin 6

Synonyms

9230101D24Rik

MMRRC Submission

068551-MU

Accession Numbers

Essential gene?

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

Stock #

R8697 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25566798-25571620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25567166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 56 (N56D)

Ref Sequence

ENSEMBL: ENSMUSP00000109837 (fasta)

Gene Model

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

AlphaFold

A2AJB9

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 benign
Transcript: ENSMUST00000114199
AA Change: N56D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109837
Gene: ENSMUSG00000045684
AA Change: N56D

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: 99.8%
20x: 99.4%

Validation Efficiency

98% (58/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	C	T	1: 161,795,565 (GRCm39)	A8T	probably benign	Het
Acacb	T	C	5: 114,351,441 (GRCm39)	V1130A	probably damaging	Het
Ackr1	A	G	1: 173,159,775 (GRCm39)	F248S	probably damaging	Het
Alx4	G	A	2: 93,505,657 (GRCm39)	R253Q	probably damaging	Het
Ap3b2	T	C	7: 81,122,783 (GRCm39)	I485V	possibly damaging	Het
Aqp7	T	C	4: 41,045,305 (GRCm39)	E25G	probably damaging	Het
Cacna1g	T	C	11: 94,307,524 (GRCm39)	N1753D	probably benign	Het
Cacna2d1	T	A	5: 16,570,865 (GRCm39)	N1063K	possibly damaging	Het
Cad	T	C	5: 31,231,945 (GRCm39)	V1801A	probably benign	Het
Ccdc171	T	C	4: 83,600,577 (GRCm39)	W868R	probably damaging	Het
Cecr2	T	C	6: 120,710,779 (GRCm39)	Y165H	probably damaging	Het
Clip4	G	T	17: 72,163,270 (GRCm39)	G614V	possibly damaging	Het
Ctnnal1	T	A	4: 56,838,986 (GRCm39)	M236L	probably damaging	Het
Ctps1	T	C	4: 120,399,947 (GRCm39)	D470G	probably benign	Het
Dmwd	A	C	7: 18,812,113 (GRCm39)	Q189P	probably damaging	Het
Dnah17	A	G	11: 117,976,985 (GRCm39)	I1869T	possibly damaging	Het
Eepd1	A	G	9: 25,497,998 (GRCm39)	N361S	probably benign	Het
Ephb6	C	T	6: 41,591,157 (GRCm39)	H105Y	probably damaging	Het
Fkbp15	A	T	4: 62,239,295 (GRCm39)	Y603*	probably null	Het
Flt3	T	C	5: 147,294,811 (GRCm39)	Y420C	possibly damaging	Het
Frem2	T	A	3: 53,433,249 (GRCm39)	T2692S	probably damaging	Het
Gna12	T	A	5: 140,771,200 (GRCm39)	R157S	probably benign	Het
Gsdmc	A	T	15: 63,651,883 (GRCm39)	S243T	probably benign	Het
Hectd1	A	G	12: 51,819,320 (GRCm39)		probably benign	Het
Hoxd11	G	A	2: 74,513,013 (GRCm39)	G93R	unknown	Het
Hydin	A	G	8: 111,259,515 (GRCm39)	I2496V	probably benign	Het
Igsf10	A	G	3: 59,226,308 (GRCm39)	I2455T	probably benign	Het
Ilvbl	A	T	10: 78,419,196 (GRCm39)	R482*	probably null	Het
Itpr1	A	G	6: 108,500,327 (GRCm39)	Y2640C	probably damaging	Het
Kif20a	C	G	18: 34,761,584 (GRCm39)	Q326E	probably benign	Het
Lamp1	A	T	8: 13,224,448 (GRCm39)	M371L	possibly damaging	Het
Map3k10	A	G	7: 27,362,784 (GRCm39)	V434A	probably benign	Het
Mdga1	T	C	17: 30,065,615 (GRCm39)	N331S	probably damaging	Het
Mndal	C	A	1: 173,700,558 (GRCm39)	E138*	probably null	Het
Morc3	T	C	16: 93,667,908 (GRCm39)	V762A	probably benign	Het
Ngef	A	T	1: 87,417,459 (GRCm39)	F279Y	probably damaging	Het
Or10ac1	A	G	6: 42,515,629 (GRCm39)	V109A	probably damaging	Het
Or5m13b	A	T	2: 85,754,200 (GRCm39)	K196I	possibly damaging	Het
Padi4	GGAGCTCCTGA	GGA	4: 140,485,230 (GRCm39)		probably null	Het
Pcdhb4	G	A	18: 37,441,832 (GRCm39)	V381M	probably benign	Het
Ppm1d	T	C	11: 85,227,986 (GRCm39)	Y301H	possibly damaging	Het
Rasgrf1	A	G	9: 89,877,055 (GRCm39)	T807A	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Sipa1l2	T	C	8: 126,208,855 (GRCm39)	K518E	probably damaging	Het
Skic3	A	G	13: 76,328,274 (GRCm39)	S1441G	probably damaging	Het
Slc52a3	A	G	2: 151,846,396 (GRCm39)	D119G	probably damaging	Het
Srsf4	C	T	4: 131,628,042 (GRCm39)	H379Y	unknown	Het
Ssr1	G	T	13: 38,167,425 (GRCm39)	S246*	probably null	Het
Tars2	C	T	3: 95,653,374 (GRCm39)	E509K	possibly damaging	Het
Tepsin	G	T	11: 119,988,354 (GRCm39)	Y34*	probably null	Het
Tmtc2	A	G	10: 105,205,831 (GRCm39)	I488T	probably damaging	Het
Trgc2	A	T	13: 19,491,514 (GRCm39)	M69K		Het
Ttn	A	G	2: 76,575,120 (GRCm39)	W25258R	probably damaging	Het
Utp14b	T	C	1: 78,644,244 (GRCm39)	M714T	probably benign	Het
Vwa3b	T	A	1: 37,115,461 (GRCm39)	H308Q	probably benign	Het
Washc2	A	G	6: 116,206,220 (GRCm39)	D480G	probably benign	Het
Xcl1	C	T	1: 164,763,008 (GRCm39)	V18I	unknown	Het
Zcchc2	C	A	1: 105,958,494 (GRCm39)	N988K	probably damaging	Het

Other mutations in Lcn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Lcn6	APN	2	25,570,792 (GRCm39)	missense	probably benign	0.29
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
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

Predicted Primers

PCR Primer
(F):5'- CCACAAAGCTTTTGGGTCC -3'
(R):5'- AGGAAACCTGCTCTGGAGAG -3'

Sequencing Primer
(F):5'- TCCCCAGGAGTCAGTCTGTAAAAG -3'
(R):5'- CTCTGGAGAGCACAGCAG -3'

Posted On

2021-04-30