Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Klk1b1'

192328

Institutional Source

Beutler Lab

Gene Symbol

Klk1b1

Ensembl Gene

ENSMUSG00000063133

Gene Name

kallikrein 1-related peptidase b1

Synonyms

mK1, tissue kallikrein, Klk1, TK, mGK-1

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43616175-43620742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43619750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 103 (M103K)

Ref Sequence

ENSEMBL: ENSMUSP00000077879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078835]

AlphaFold

P00755

Predicted Effect

probably benign
Transcript: ENSMUST00000078835
AA Change: M103K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000077879
Gene: ENSMUSG00000063133
AA Change: M103K

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	1.25e-98	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206796

Meta Mutation Damage Score

0.1294

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous null mice display decreased left ventricular contractility, cardiac output, and stroke volume, a thin left ventricular wall, and impaired vasodilation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,928 (GRCm39)	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 124,968,201 (GRCm39)		noncoding transcript	Het
Acsl3	T	C	1: 78,683,114 (GRCm39)		probably benign	Het
Acsl6	C	A	11: 54,220,792 (GRCm39)	T244K	probably damaging	Het
Adam26b	T	A	8: 43,974,000 (GRCm39)	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,223,248 (GRCm39)	T608M	probably damaging	Het
Aldh2	A	G	5: 121,716,404 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,599,436 (GRCm39)	T1890A	possibly damaging	Het
Capn7	C	T	14: 31,082,117 (GRCm39)	T441M	probably damaging	Het
Cd9	A	T	6: 125,441,367 (GRCm39)	C85S	probably damaging	Het
Chrm3	T	C	13: 9,928,794 (GRCm39)	T81A	probably damaging	Het
Ctif	A	G	18: 75,757,376 (GRCm39)		probably benign	Het
Dcc	T	A	18: 71,503,808 (GRCm39)	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,498,530 (GRCm39)	V422A	probably damaging	Het
Enthd1	A	G	15: 80,337,124 (GRCm39)	S437P	probably damaging	Het
Fads1	A	G	19: 10,171,464 (GRCm39)		probably benign	Het
Fat3	T	A	9: 15,856,176 (GRCm39)	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,392,473 (GRCm39)	V85E	possibly damaging	Het
Fcgbpl1	T	A	7: 27,853,772 (GRCm39)	C1579S	probably damaging	Het
Fem1b	T	C	9: 62,704,456 (GRCm39)	D268G	possibly damaging	Het
Focad	T	C	4: 88,327,225 (GRCm39)	L1772P	probably damaging	Het
Gtf3a	C	A	5: 146,888,723 (GRCm39)	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,342,957 (GRCm39)		probably null	Het
Herc2	T	A	7: 55,803,653 (GRCm39)	F2229L	probably benign	Het
Hs3st4	A	T	7: 123,996,080 (GRCm39)	I249L	probably benign	Het
Iqsec1	A	T	6: 90,786,752 (GRCm39)	Y7*	probably null	Het
Irag2	A	G	6: 145,083,341 (GRCm39)		probably benign	Het
Krt5	A	G	15: 101,619,020 (GRCm39)	V287A	probably benign	Het
Lgals12	T	A	19: 7,581,530 (GRCm39)	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,593,379 (GRCm39)	V264A	possibly damaging	Het
Lrp1b	T	C	2: 40,712,695 (GRCm39)	D3099G	probably damaging	Het
Mical3	G	A	6: 120,984,369 (GRCm39)	T169I	possibly damaging	Het
Muc21	A	C	17: 35,931,540 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,154,613 (GRCm39)	V461I	possibly damaging	Het
Myh7b	A	C	2: 155,462,054 (GRCm39)	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nsd1	A	T	13: 55,361,872 (GRCm39)		probably null	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or1j17	C	T	2: 36,578,259 (GRCm39)	L82F	probably damaging	Het
Or2t49	A	T	11: 58,392,502 (GRCm39)	S293R	probably damaging	Het
Or5h22	A	G	16: 58,895,270 (GRCm39)	Y58H	probably damaging	Het
Or5i1	T	A	2: 87,612,929 (GRCm39)	I15N	possibly damaging	Het
Or6c2b	T	C	10: 128,947,737 (GRCm39)	T186A	probably benign	Het
Pcnx2	A	G	8: 126,577,087 (GRCm39)	Y982H	probably damaging	Het
Pias3	T	C	3: 96,609,541 (GRCm39)	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,267,710 (GRCm39)	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,512,057 (GRCm39)	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,527,906 (GRCm39)		probably benign	Het
Pramel29	A	C	4: 143,935,162 (GRCm39)	I193S	probably damaging	Het
Proser3	T	C	7: 30,239,446 (GRCm39)	M553V	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Smurf2	A	T	11: 106,715,514 (GRCm39)	D664E	possibly damaging	Het
Spag9	G	A	11: 93,887,391 (GRCm39)	A99T	probably benign	Het
Stim1	T	G	7: 102,003,713 (GRCm39)	C49G	probably damaging	Het
Stk32c	T	C	7: 138,701,740 (GRCm39)	I238V	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,372,464 (GRCm39)	E133V	probably null	Het
Tmem209	A	T	6: 30,497,867 (GRCm39)	C143S	probably benign	Het
Tnr	T	G	1: 159,679,600 (GRCm39)	N191K	probably benign	Het
Vars1	C	T	17: 35,217,198 (GRCm39)	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,767,041 (GRCm39)	S819G	probably benign	Het
Wls	T	C	3: 159,602,995 (GRCm39)	V136A	probably benign	Het
Ybx2	C	T	11: 69,830,887 (GRCm39)	S217L	probably benign	Het
Zfp82	T	C	7: 29,756,779 (GRCm39)	D37G	probably benign	Het

Other mutations in Klk1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Klk1b1	APN	7	43,620,593 (GRCm39)	missense	possibly damaging	0.83
IGL02794:Klk1b1	APN	7	43,619,789 (GRCm39)	missense	possibly damaging	0.62
IGL03266:Klk1b1	APN	7	43,619,900 (GRCm39)	missense	probably benign	0.18
R0324:Klk1b1	UTSW	7	43,620,165 (GRCm39)	nonsense	probably null
R0689:Klk1b1	UTSW	7	43,620,143 (GRCm39)	missense	probably benign
R1552:Klk1b1	UTSW	7	43,618,767 (GRCm39)	missense	probably damaging	1.00
R1737:Klk1b1	UTSW	7	43,619,783 (GRCm39)	missense	probably benign	0.01
R2060:Klk1b1	UTSW	7	43,620,047 (GRCm39)	missense	possibly damaging	0.73
R2159:Klk1b1	UTSW	7	43,619,857 (GRCm39)	missense	probably damaging	0.97
R2177:Klk1b1	UTSW	7	43,618,695 (GRCm39)	missense	possibly damaging	0.63
R2213:Klk1b1	UTSW	7	43,619,905 (GRCm39)	missense	probably damaging	1.00
R2509:Klk1b1	UTSW	7	43,618,803 (GRCm39)	missense	probably damaging	1.00
R2510:Klk1b1	UTSW	7	43,618,803 (GRCm39)	missense	probably damaging	1.00
R3849:Klk1b1	UTSW	7	43,618,751 (GRCm39)	missense	probably damaging	1.00
R5567:Klk1b1	UTSW	7	43,620,593 (GRCm39)	missense	probably damaging	0.99
R6191:Klk1b1	UTSW	7	43,620,081 (GRCm39)	missense	probably damaging	1.00
R7162:Klk1b1	UTSW	7	43,618,671 (GRCm39)	missense	probably damaging	0.99
R7535:Klk1b1	UTSW	7	43,619,746 (GRCm39)	missense	probably damaging	1.00
R7752:Klk1b1	UTSW	7	43,620,669 (GRCm39)	missense	probably damaging	1.00
R7901:Klk1b1	UTSW	7	43,620,669 (GRCm39)	missense	probably damaging	1.00
R8320:Klk1b1	UTSW	7	43,619,767 (GRCm39)	missense	possibly damaging	0.86
R8379:Klk1b1	UTSW	7	43,619,767 (GRCm39)	missense	possibly damaging	0.86
R8381:Klk1b1	UTSW	7	43,619,767 (GRCm39)	missense	possibly damaging	0.86
R8383:Klk1b1	UTSW	7	43,619,767 (GRCm39)	missense	possibly damaging	0.86
R8511:Klk1b1	UTSW	7	43,619,767 (GRCm39)	missense	possibly damaging	0.86
R8867:Klk1b1	UTSW	7	43,619,747 (GRCm39)	missense	probably damaging	0.98
R9089:Klk1b1	UTSW	7	43,620,668 (GRCm39)	missense	possibly damaging	0.77
R9179:Klk1b1	UTSW	7	43,618,715 (GRCm39)	missense	probably damaging	1.00
R9761:Klk1b1	UTSW	7	43,618,739 (GRCm39)	missense	possibly damaging	0.79
X0012:Klk1b1	UTSW	7	43,620,083 (GRCm39)	missense	probably benign	0.05
Z1088:Klk1b1	UTSW	7	43,619,825 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTACCTGCTGGGGAAGTACAGACC -3'
(R):5'- GCTTGGACCAGACTCACACTTGAC -3'

Sequencing Primer
(F):5'- GGAAGTACAGACCTGTCCTAGC -3'
(R):5'- TGACAGGTATAATGCTGCCC -3'

Posted On

2014-05-14