Mutagenetix > Incidental Mutation

Incidental Mutation 'R1772:Klk6'

196699

Institutional Source

Beutler Lab

Gene Symbol

Klk6

Ensembl Gene

ENSMUSG00000050063

Gene Name

kallikrein related-peptidase 6

Synonyms

protease M, Prss18, neurosin, Klk29, Prss9, Bssp

MMRRC Submission

039803-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43473967-43481219 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 43478695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 201 (Q201*)

Ref Sequence

ENSEMBL: ENSMUSP00000103602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107966] [ENSMUST00000107967] [ENSMUST00000107968] [ENSMUST00000177514]

AlphaFold

Q91Y82

Predicted Effect

probably null
Transcript: ENSMUST00000107966
AA Change: Q201*

SMART Domains

Protein: ENSMUSP00000103600
Gene: ENSMUSG00000050063
AA Change: Q201*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	28	244	3.1e-89	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107967
AA Change: Q201*

SMART Domains

Protein: ENSMUSP00000103601
Gene: ENSMUSG00000050063
AA Change: Q201*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	28	244	3.1e-89	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107968
AA Change: Q201*

SMART Domains

Protein: ENSMUSP00000103602
Gene: ENSMUSG00000050063
AA Change: Q201*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	28	244	3.1e-89	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177514

SMART Domains

Protein: ENSMUSP00000135591
Gene: ENSMUSG00000050063

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	28	129	5.07e-4	SMART

Meta Mutation Damage Score

0.9753

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.5%

Validation Efficiency

97% (107/110)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The encoded preproprotein is proteolytically processed to generate the mature protease. Expression of this protease is regulated by steroid hormones and may be elevated in multiple human cancers and in serum from psoriasis patients. The encoded protease may participate in the cleavage of amyloid precursor protein and alpha-synuclein, thus implicating this protease in Alzheimer's and Parkinson's disease, respectively. This gene is located in a gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased mature oligodendrocytes in the developing spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	G	T	10: 10,258,465 (GRCm39)		probably benign	Het
Aldh1a7	T	C	19: 20,693,383 (GRCm39)	K179E	probably damaging	Het
Angptl7	G	A	4: 148,581,883 (GRCm39)	R168C	probably damaging	Het
Atp8b1	T	A	18: 64,706,563 (GRCm39)	I208F	possibly damaging	Het
Bco1	A	G	8: 117,857,347 (GRCm39)	Y438C	probably benign	Het
Bltp1	T	C	3: 37,013,581 (GRCm39)	S1937P	probably damaging	Het
Btrc	A	C	19: 45,501,100 (GRCm39)	K218Q	probably damaging	Het
Cct8l1	G	A	5: 25,722,697 (GRCm39)	V471M	probably damaging	Het
Cd180	C	T	13: 102,842,750 (GRCm39)	L599F	probably benign	Het
Cd300e	T	C	11: 114,945,344 (GRCm39)	N150S	probably benign	Het
Clcn1	C	A	6: 42,271,079 (GRCm39)	T281K	probably damaging	Het
Cnnm3	T	C	1: 36,558,038 (GRCm39)	S417P	probably damaging	Het
Cspg4	T	A	9: 56,804,776 (GRCm39)	S1862R	probably benign	Het
Cspg5	A	T	9: 110,091,206 (GRCm39)	N432Y	probably damaging	Het
Cyp2r1	T	A	7: 114,152,451 (GRCm39)	I169F	probably damaging	Het
D130043K22Rik	T	A	13: 25,059,982 (GRCm39)	S618T	probably damaging	Het
Diaph3	G	A	14: 87,202,985 (GRCm39)	P635L	probably damaging	Het
Dlg1	A	G	16: 31,484,485 (GRCm39)	I38V	possibly damaging	Het
Dlk1	T	G	12: 109,425,685 (GRCm39)	V186G	probably damaging	Het
Dmxl2	T	C	9: 54,330,508 (GRCm39)		probably benign	Het
Dnajc17	G	A	2: 119,014,164 (GRCm39)	R132*	probably null	Het
Dock9	G	T	14: 121,847,210 (GRCm39)	N1042K	probably benign	Het
Dok7	A	T	5: 35,243,994 (GRCm39)	Q511L	probably damaging	Het
Espnl	G	A	1: 91,272,325 (GRCm39)	E562K	possibly damaging	Het
Evi5	G	A	5: 107,943,707 (GRCm39)	T562I	probably benign	Het
Exd2	T	A	12: 80,536,253 (GRCm39)	D294E	probably benign	Het
Fbn1	A	T	2: 125,245,148 (GRCm39)	D246E	possibly damaging	Het
Fbxw16	A	T	9: 109,268,650 (GRCm39)	W247R	possibly damaging	Het
Fcer1a	A	G	1: 173,053,004 (GRCm39)	I64T	probably benign	Het
Fcgbp	C	A	7: 27,804,600 (GRCm39)	Q1903K	possibly damaging	Het
Fmn1	A	G	2: 113,195,700 (GRCm39)	S467G	unknown	Het
Fndc7	T	A	3: 108,777,850 (GRCm39)	T369S	probably damaging	Het
Fnta	T	C	8: 26,490,994 (GRCm39)		probably benign	Het
Gak	A	T	5: 108,754,758 (GRCm39)	H289Q	probably damaging	Het
Gas2l3	A	G	10: 89,252,876 (GRCm39)		probably benign	Het
Gbp8	T	C	5: 105,163,987 (GRCm39)	N437S	probably benign	Het
Gk5	G	A	9: 96,032,850 (GRCm39)		probably null	Het
Hid1	A	T	11: 115,239,299 (GRCm39)	V788E	probably damaging	Het
Hmcn1	T	C	1: 150,439,319 (GRCm39)	T5505A	probably damaging	Het
Igf1r	T	A	7: 67,844,822 (GRCm39)	M865K	probably benign	Het
Katnal2	G	A	18: 77,090,233 (GRCm39)	T258I	probably damaging	Het
Kdm3b	A	T	18: 34,936,557 (GRCm39)	I280L	probably benign	Het
Kif24	A	G	4: 41,409,787 (GRCm39)	V382A	probably damaging	Het
Kif2a	A	T	13: 107,114,640 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,333,022 (GRCm39)	I56V	probably benign	Het
Klra3	A	T	6: 130,300,671 (GRCm39)	S233T	probably benign	Het
Krt9	A	T	11: 100,082,131 (GRCm39)	M223K	probably damaging	Het
Lama4	G	A	10: 38,936,220 (GRCm39)	E632K	probably benign	Het
Lamb1	T	C	12: 31,328,524 (GRCm39)	Y163H	probably damaging	Het
Lipo3	A	G	19: 33,764,821 (GRCm39)	I11T	probably benign	Het
Lix1l	T	A	3: 96,531,207 (GRCm39)	H333Q	possibly damaging	Het
Mal2	T	A	15: 54,451,783 (GRCm39)	M68K	probably damaging	Het
Map2k2	T	C	10: 80,956,934 (GRCm39)	I104T	probably damaging	Het
Matn2	T	C	15: 34,428,931 (GRCm39)	V765A	probably damaging	Het
Mptx2	T	A	1: 173,102,040 (GRCm39)	K216N	probably damaging	Het
Mup5	C	T	4: 61,750,578 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,419,855 (GRCm39)	Y2494H	probably damaging	Het
Myh3	G	A	11: 66,990,220 (GRCm39)	D1622N	probably benign	Het
Myo6	T	C	9: 80,177,331 (GRCm39)	I609T	possibly damaging	Het
Ndst1	G	A	18: 60,835,909 (GRCm39)	T458I	probably damaging	Het
Neb	A	T	2: 52,125,689 (GRCm39)	Y3622N	probably damaging	Het
Ntm	A	G	9: 29,090,396 (GRCm39)	Y108H	probably benign	Het
Or13c3	T	G	4: 52,855,730 (GRCm39)	K261T	probably benign	Het
Or1a1b	T	C	11: 74,097,398 (GRCm39)	I215V	probably benign	Het
Or52e19	T	C	7: 102,959,449 (GRCm39)	Y174H	possibly damaging	Het
Pappa2	T	A	1: 158,641,938 (GRCm39)	I1373F	possibly damaging	Het
Pear1	A	G	3: 87,661,799 (GRCm39)		probably benign	Het
Phc3	C	T	3: 31,015,969 (GRCm39)	A81T	probably damaging	Het
Pmepa1	A	G	2: 173,076,153 (GRCm39)	S105P	probably damaging	Het
Ppp6r1	T	C	7: 4,645,030 (GRCm39)	I248V	probably benign	Het
Prdm4	G	A	10: 85,729,256 (GRCm39)	T717I	probably damaging	Het
Prom1	T	C	5: 44,168,566 (GRCm39)	T669A	probably benign	Het
Ptpn5	T	A	7: 46,740,516 (GRCm39)	I96F	probably benign	Het
Ptpro	T	C	6: 137,407,741 (GRCm39)	L922P	probably damaging	Het
Reck	A	T	4: 43,890,982 (GRCm39)	H40L	probably benign	Het
Rreb1	T	A	13: 38,114,899 (GRCm39)	C753S	probably benign	Het
Sacs	T	C	14: 61,448,346 (GRCm39)	L3464P	probably damaging	Het
Samsn1	A	T	16: 75,667,663 (GRCm39)	D304E	probably benign	Het
Scgb2b3	T	C	7: 31,059,621 (GRCm39)	N51S	possibly damaging	Het
Shroom3	T	C	5: 93,088,515 (GRCm39)	S341P	probably damaging	Het
Siglece	T	C	7: 43,308,717 (GRCm39)	D212G	probably damaging	Het
Sirpa	A	G	2: 129,458,376 (GRCm39)	T331A	probably damaging	Het
Spata21	T	C	4: 140,838,607 (GRCm39)	S553P	possibly damaging	Het
Speer4b	T	A	5: 27,705,236 (GRCm39)		probably benign	Het
Srgap2	T	C	1: 131,247,376 (GRCm39)	D552G	probably damaging	Het
Stab2	A	G	10: 86,790,098 (GRCm39)	I556T	probably benign	Het
Strip1	C	T	3: 107,534,047 (GRCm39)		probably null	Het
Stxbp6	T	A	12: 44,949,653 (GRCm39)	D92V	probably damaging	Het
Styx	A	G	14: 45,594,215 (GRCm39)	K46E	probably damaging	Het
Supt20	T	A	3: 54,617,841 (GRCm39)	V314E	probably damaging	Het
Syne2	T	A	12: 75,985,503 (GRCm39)	D1650E	probably benign	Het
Szt2	T	A	4: 118,262,714 (GRCm39)	K21M	probably damaging	Het
Tbx4	A	T	11: 85,802,033 (GRCm39)	H222L	probably damaging	Het
Tcstv1b	T	A	13: 120,634,725 (GRCm39)	D2E	probably benign	Het
Tmx3	A	T	18: 90,551,121 (GRCm39)	I254L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpv2	A	T	11: 62,485,052 (GRCm39)		probably benign	Het
Ubap2	A	G	4: 41,202,380 (GRCm39)	S683P	probably benign	Het
Ube2d3	C	T	3: 135,170,972 (GRCm39)	R139W	probably benign	Het
Ubox5	G	T	2: 130,433,794 (GRCm39)	Q518K	probably benign	Het
Usp42	T	C	5: 143,702,857 (GRCm39)	N588S	probably damaging	Het
Vars2	G	A	17: 35,970,976 (GRCm39)	T618M	probably damaging	Het
Wfdc17	A	T	11: 83,595,730 (GRCm39)	N65Y	probably damaging	Het
Zbtb38	G	A	9: 96,570,094 (GRCm39)	P330L	probably damaging	Het
Zfp385a	C	T	15: 103,224,308 (GRCm39)		probably null	Het
Zfp637	T	A	6: 117,822,373 (GRCm39)	L167H	probably damaging	Het

Other mutations in Klk6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02691:Klk6	APN	7	43,477,924 (GRCm39)	missense	probably benign	0.03
R0382:Klk6	UTSW	7	43,478,669 (GRCm39)	missense	probably benign	0.03
R0453:Klk6	UTSW	7	43,477,963 (GRCm39)	missense	probably damaging	1.00
R1479:Klk6	UTSW	7	43,481,058 (GRCm39)	missense	probably benign	0.03
R1521:Klk6	UTSW	7	43,478,699 (GRCm39)	critical splice donor site	probably null
R1902:Klk6	UTSW	7	43,475,481 (GRCm39)	start codon destroyed	probably benign	0.03
R4238:Klk6	UTSW	7	43,478,597 (GRCm39)	missense	probably benign	0.02
R4239:Klk6	UTSW	7	43,478,597 (GRCm39)	missense	probably benign	0.02
R4240:Klk6	UTSW	7	43,478,597 (GRCm39)	missense	probably benign	0.02
R5182:Klk6	UTSW	7	43,478,084 (GRCm39)	missense	probably benign	0.16
R5274:Klk6	UTSW	7	43,478,553 (GRCm39)	splice site	probably null
R6776:Klk6	UTSW	7	43,476,298 (GRCm39)	missense	probably damaging	1.00
R7411:Klk6	UTSW	7	43,476,367 (GRCm39)	missense	probably damaging	1.00
R7702:Klk6	UTSW	7	43,478,689 (GRCm39)	missense	probably damaging	0.98
R8035:Klk6	UTSW	7	43,478,086 (GRCm39)	missense	probably benign	0.00
R8828:Klk6	UTSW	7	43,478,062 (GRCm39)	missense	probably damaging	1.00
R8828:Klk6	UTSW	7	43,478,061 (GRCm39)	missense
R8990:Klk6	UTSW	7	43,476,254 (GRCm39)	missense	probably benign	0.05
R9316:Klk6	UTSW	7	43,477,912 (GRCm39)	missense	probably benign	0.00
R9570:Klk6	UTSW	7	43,477,967 (GRCm39)	missense	probably damaging	1.00
Z1088:Klk6	UTSW	7	43,477,912 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATGTGTAAGCCTGGCCCATCTTC -3'
(R):5'- TGGTGTCCCTGACTTTGCATCTAAAC -3'

Sequencing Primer
(F):5'- TGGCCCATCTTCCACCTC -3'
(R):5'- tgcctgcctctgtcctc -3'

Posted On

2014-05-23