Mutagenetix > Incidental Mutation

Incidental Mutation 'R9081:Klk1'

720370

Institutional Source

Beutler Lab

Gene Symbol

Klk1

Ensembl Gene

ENSMUSG00000063903

Gene Name

kallikrein 1

Synonyms

Klk6, mGk-6, 0610007D04Rik

MMRRC Submission

068900-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9081 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43874784-43879042 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 43874952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037220] [ENSMUST00000074359] [ENSMUST00000075162] [ENSMUST00000206144] [ENSMUST00000206366] [ENSMUST00000206686]

AlphaFold

P15947

Predicted Effect

probably benign
Transcript: ENSMUST00000037220

SMART Domains

Protein: ENSMUSP00000048665
Gene: ENSMUSG00000038782

Domain	Start	End	E-Value	Type
transmembrane domain	35	52	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074359

SMART Domains

Protein: ENSMUSP00000073964
Gene: ENSMUSG00000066512

Domain	Start	End	E-Value	Type
Tryp_SPc	24	253	1.49e-100	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075162

SMART Domains

Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903

Domain	Start	End	E-Value	Type
Tryp_SPc	24	253	7.26e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206144

Predicted Effect

probably benign
Transcript: ENSMUST00000206366

Predicted Effect

probably benign
Transcript: ENSMUST00000206686

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. Mice lacking the encoded protein are unable to generate significant levels of kinins in most tissues, develop cardiovascular abnormalities and exhibit hypercalciuria of renal origin. This gene is located in a cluster of several related kallikrein genes on chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,502 (GRCm39)	V271E	probably damaging	Het
Abca1	A	G	4: 53,109,162 (GRCm39)		probably null	Het
Abcb11	C	T	2: 69,122,388 (GRCm39)	C365Y	possibly damaging	Het
Abcd2	A	T	15: 91,075,772 (GRCm39)	W14R	probably damaging	Het
Acmsd	A	G	1: 127,687,468 (GRCm39)	D250G	possibly damaging	Het
Ahnak	T	A	19: 8,985,890 (GRCm39)	D2391E	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Cbr1	G	T	16: 93,406,994 (GRCm39)	G237*	probably null	Het
Cdr2l	T	A	11: 115,284,939 (GRCm39)	V425E	probably damaging	Het
Chd9	A	T	8: 91,704,144 (GRCm39)	K693*	probably null	Het
Clgn	T	G	8: 84,153,169 (GRCm39)	D590E	probably damaging	Het
Col14a1	T	A	15: 55,291,387 (GRCm39)	S952T	unknown	Het
Crip3	T	C	17: 46,740,959 (GRCm39)	L90P	probably benign	Het
Dchs1	A	G	7: 105,403,636 (GRCm39)	S2969P	probably benign	Het
Dnai2	T	A	11: 114,629,493 (GRCm39)	D173E	probably damaging	Het
Dnpep	A	T	1: 75,291,060 (GRCm39)	F257Y	probably damaging	Het
Egln2	A	G	7: 26,864,286 (GRCm39)	V213A	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Eps8	A	G	6: 137,504,415 (GRCm39)	I106T	probably benign	Het
Evi5	A	G	5: 107,963,571 (GRCm39)	F379L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fpgs	A	T	2: 32,577,500 (GRCm39)		probably benign	Het
Garnl3	T	G	2: 32,896,920 (GRCm39)	D573A	possibly damaging	Het
Gja8	A	G	3: 96,826,676 (GRCm39)	S329P	probably damaging	Het
Gzf1	T	A	2: 148,525,317 (GRCm39)		probably benign	Het
Hgs	T	A	11: 120,366,076 (GRCm39)		probably benign	Het
Ifi203	A	G	1: 173,757,048 (GRCm39)	I245T	unknown	Het
Ighv1-74	C	A	12: 115,766,454 (GRCm39)	W55C	probably damaging	Het
Iqcb1	A	G	16: 36,656,006 (GRCm39)	K131R	probably null	Het
Kit	A	T	5: 75,801,218 (GRCm39)	M539L	probably benign	Het
Krt84	C	T	15: 101,440,814 (GRCm39)	G126D	unknown	Het
Lama5	A	T	2: 179,833,930 (GRCm39)	C1473*	probably null	Het
Loxl3	T	C	6: 83,025,638 (GRCm39)	V332A	possibly damaging	Het
Mcf2l	T	A	8: 13,068,697 (GRCm39)	Y1120N	probably damaging	Het
Meioc	G	A	11: 102,565,001 (GRCm39)	V150M	probably benign	Het
Mybpc1	T	G	10: 88,389,168 (GRCm39)	Y400S	probably damaging	Het
Ncmap	T	C	4: 135,104,292 (GRCm39)		probably benign	Het
Noc2l	A	G	4: 156,326,224 (GRCm39)	Y437C	probably damaging	Het
Nol8	A	T	13: 49,814,881 (GRCm39)	M330L	probably benign	Het
Or10d4c	A	T	9: 39,558,196 (GRCm39)	Y58F	probably damaging	Het
Or5b113	C	T	19: 13,342,019 (GRCm39)	T9I	probably benign	Het
P4ha1	T	C	10: 59,184,185 (GRCm39)	Y216H	probably damaging	Het
Pamr1	A	T	2: 102,441,933 (GRCm39)	D174V	probably damaging	Het
Pdcd1	C	T	1: 93,968,880 (GRCm39)		probably null	Het
Plec	A	G	15: 76,059,908 (GRCm39)	V3343A	probably damaging	Het
Pnliprp1	A	T	19: 58,723,406 (GRCm39)	I266F	probably benign	Het
Poglut2	T	A	1: 44,153,966 (GRCm39)	Q161L	probably benign	Het
Ppp1r12b	C	T	1: 134,705,085 (GRCm39)	V868I	probably benign	Het
Ppp2r2b	A	T	18: 42,781,825 (GRCm39)	H325Q	probably benign	Het
Rif1	C	T	2: 52,000,989 (GRCm39)	T1481I	probably damaging	Het
Rnf213	A	T	11: 119,357,062 (GRCm39)	D4204V		Het
Rps6kl1	T	C	12: 85,185,881 (GRCm39)	N409S	probably damaging	Het
Rundc1	T	G	11: 101,316,053 (GRCm39)	W42G	probably damaging	Het
Sec1	C	T	7: 45,333,987 (GRCm39)		probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Shc2	T	C	10: 79,462,762 (GRCm39)		probably null	Het
Slc19a1	T	C	10: 76,877,750 (GRCm39)	V95A	possibly damaging	Het
Slc22a5	A	T	11: 53,762,447 (GRCm39)	D333E	probably damaging	Het
Specc1	A	C	11: 62,010,051 (GRCm39)	R522S	possibly damaging	Het
Syne2	C	T	12: 76,016,290 (GRCm39)	Q3291*	probably null	Het
Taar7e	G	A	10: 23,913,893 (GRCm39)	V128I	probably benign	Het
Tdrd3	A	G	14: 87,743,717 (GRCm39)	N555S	probably benign	Het
Themis	C	T	10: 28,544,582 (GRCm39)		probably benign	Het
Tjp1	A	G	7: 64,964,010 (GRCm39)	V945A	possibly damaging	Het
Tom1	G	A	8: 75,778,151 (GRCm39)	V78I	probably damaging	Het
Usp13	A	G	3: 32,935,542 (GRCm39)	T323A	probably benign	Het
Usp49	T	C	17: 47,984,236 (GRCm39)	S414P	possibly damaging	Het
Vmn1r104	G	A	7: 20,268,378 (GRCm39)	S206N	probably damaging	Het
Vps45	A	T	3: 95,940,125 (GRCm39)	V446E	probably benign	Het
Wwc1	T	C	11: 35,782,331 (GRCm39)	K222R	probably benign	Het
Zc3h13	CAGAGACCGGGACAGAAGGAGAGAC	CAGAGAC	14: 75,569,381 (GRCm39)		probably benign	Het

Other mutations in Klk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Klk1	APN	7	43,878,020 (GRCm39)	missense	probably damaging	0.98
IGL01788:Klk1	APN	7	43,878,407 (GRCm39)	missense	probably benign	0.00
R0011:Klk1	UTSW	7	43,878,959 (GRCm39)	missense	probably benign	0.03
R0184:Klk1	UTSW	7	43,878,173 (GRCm39)	missense	possibly damaging	0.50
R0853:Klk1	UTSW	7	43,870,922 (GRCm39)	unclassified	probably benign
R0925:Klk1	UTSW	7	43,878,240 (GRCm39)	critical splice donor site	probably null
R2044:Klk1	UTSW	7	43,878,458 (GRCm39)	missense	possibly damaging	0.95
R2518:Klk1	UTSW	7	43,870,161 (GRCm39)	splice site	probably null
R2982:Klk1	UTSW	7	43,878,863 (GRCm39)	missense	probably damaging	1.00
R3962:Klk1	UTSW	7	43,878,973 (GRCm39)	missense	possibly damaging	0.87
R4041:Klk1	UTSW	7	43,878,986 (GRCm39)	missense	probably damaging	1.00
R4067:Klk1	UTSW	7	43,876,968 (GRCm39)	nonsense	probably null
R4385:Klk1	UTSW	7	43,877,993 (GRCm39)	missense	probably benign	0.12
R4901:Klk1	UTSW	7	43,878,139 (GRCm39)	missense	probably damaging	0.99
R5256:Klk1	UTSW	7	43,870,985 (GRCm39)	unclassified	probably benign
R5580:Klk1	UTSW	7	43,878,238 (GRCm39)	missense	probably benign	0.00
R5595:Klk1	UTSW	7	43,878,161 (GRCm39)	splice site	probably null
R6818:Klk1	UTSW	7	43,878,883 (GRCm39)	missense	probably damaging	1.00
R7100:Klk1	UTSW	7	43,878,848 (GRCm39)	missense	probably damaging	1.00
R8351:Klk1	UTSW	7	43,878,410 (GRCm39)	missense	probably benign	0.11
R8451:Klk1	UTSW	7	43,878,410 (GRCm39)	missense	probably benign	0.11
R8458:Klk1	UTSW	7	43,874,933 (GRCm39)	missense	probably damaging	1.00
R8850:Klk1	UTSW	7	43,877,056 (GRCm39)	missense	probably damaging	0.99
R9786:Klk1	UTSW	7	43,878,104 (GRCm39)	missense	probably damaging	0.97
R9796:Klk1	UTSW	7	43,877,965 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AACATCTGGCTGCCAACACG -3'
(R):5'- AGCTCAGAAATGATCAGGTGTC -3'

Sequencing Primer
(F):5'- CAACACGGCAGGGGTGG -3'
(R):5'- CTCAGAAATGATCAGGTGTCTAAGG -3'

Posted On

2022-07-27