Mutagenetix > Incidental Mutation

Incidental Mutation 'R0324:Klk1b1'

26350

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

038534-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43616175-43620742 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 43620165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 209 (C209*)

Ref Sequence

ENSEMBL: ENSMUSP00000077879 (fasta)

Gene Model

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

AlphaFold

P00755

Predicted Effect

probably null
Transcript: ENSMUST00000078835
AA Change: C209*

SMART Domains

Protein: ENSMUSP00000077879
Gene: ENSMUSG00000063133
AA Change: C209*

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 93.1%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,219,989 (GRCm39)	L357S	probably benign	Het
1700129C05Rik	C	T	14: 59,380,256 (GRCm39)	R14H	probably damaging	Het
Aatf	A	G	11: 84,402,965 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,247,669 (GRCm39)	M2472K	possibly damaging	Het
Abcd3	C	A	3: 121,562,816 (GRCm39)	Q540H	probably null	Het
Adam17	C	T	12: 21,399,939 (GRCm39)	V156I	probably benign	Het
Adam26a	A	G	8: 44,021,490 (GRCm39)	S667P	probably benign	Het
Adcy10	A	G	1: 165,391,818 (GRCm39)	K1333E	probably benign	Het
Apob	G	A	12: 8,060,521 (GRCm39)	R2968Q	probably benign	Het
Arap3	G	A	18: 38,106,278 (GRCm39)	P1522S	possibly damaging	Het
Catsper1	A	T	19: 5,386,573 (GRCm39)	S269C	probably damaging	Het
Cd209d	A	T	8: 3,928,258 (GRCm39)	S42R	probably benign	Het
Cntln	T	A	4: 85,010,932 (GRCm39)	V1049E	probably damaging	Het
Cracr2b	T	C	7: 141,043,659 (GRCm39)	F87L	probably damaging	Het
Crb3	T	C	17: 57,372,133 (GRCm39)	L60P	probably damaging	Het
Crispld1	T	C	1: 17,819,815 (GRCm39)	V271A	probably benign	Het
Cyp2c66	G	T	19: 39,165,135 (GRCm39)	R372L	probably benign	Het
Deup1	G	A	9: 15,493,829 (GRCm39)	R438W	probably benign	Het
Dnah6	C	T	6: 73,150,541 (GRCm39)	E741K	possibly damaging	Het
Epha4	T	C	1: 77,360,188 (GRCm39)	E703G	probably damaging	Het
Evc2	G	A	5: 37,550,443 (GRCm39)	R819H	probably damaging	Het
Fam217a	A	C	13: 35,094,944 (GRCm39)	C272G	possibly damaging	Het
Fndc7	T	C	3: 108,784,015 (GRCm39)		probably null	Het
Foxs1	C	T	2: 152,774,607 (GRCm39)	G149S	probably benign	Het
Galnt13	T	C	2: 54,744,628 (GRCm39)	V109A	probably benign	Het
Hmgxb4	G	A	8: 75,725,556 (GRCm39)	M7I	probably benign	Het
Klra10	A	G	6: 130,249,613 (GRCm39)		probably null	Het
Kntc1	A	T	5: 123,916,175 (GRCm39)	K701N	probably damaging	Het
Lpgat1	T	A	1: 191,481,754 (GRCm39)	L114Q	probably damaging	Het
Mecom	T	A	3: 30,017,261 (GRCm39)	Q468L	probably damaging	Het
Med15	T	C	16: 17,515,476 (GRCm39)	T70A	probably damaging	Het
Msh6	T	A	17: 88,294,048 (GRCm39)	Y934*	probably null	Het
Mtus1	T	C	8: 41,537,432 (GRCm39)	T95A	probably benign	Het
Mylk3	C	A	8: 86,079,535 (GRCm39)	R444S	probably damaging	Het
Nbea	A	G	3: 55,965,369 (GRCm39)		probably null	Het
Nbeal1	T	C	1: 60,332,032 (GRCm39)	V2242A	probably damaging	Het
Nhp2	A	G	11: 51,513,334 (GRCm39)	T85A	possibly damaging	Het
Nlk	A	G	11: 78,463,257 (GRCm39)	S413P	possibly damaging	Het
Nmbr	A	G	10: 14,636,192 (GRCm39)	I54V	possibly damaging	Het
Nmur2	A	T	11: 55,931,346 (GRCm39)	C122S	probably damaging	Het
Nudt13	G	T	14: 20,361,583 (GRCm39)	V220L	probably damaging	Het
Or5m13	G	A	2: 85,748,295 (GRCm39)	V9M	probably benign	Het
Pclo	G	A	5: 14,719,447 (GRCm39)	G1195R	unknown	Het
Pcsk7	A	G	9: 45,824,309 (GRCm39)	H276R	possibly damaging	Het
Pdss2	T	C	10: 43,269,924 (GRCm39)	S256P	probably damaging	Het
Pgf	G	T	12: 85,218,198 (GRCm39)	H116N	probably benign	Het
Pglyrp2	T	C	17: 32,637,302 (GRCm39)	D242G	probably benign	Het
Plk2	G	A	13: 110,534,242 (GRCm39)	R274K	probably benign	Het
Ppp6r3	G	T	19: 3,514,693 (GRCm39)	P141T	probably benign	Het
Prss54	T	C	8: 96,292,295 (GRCm39)	T95A	probably benign	Het
Rab3il1	A	G	19: 10,005,653 (GRCm39)	D149G	probably damaging	Het
Rasgef1c	T	C	11: 49,852,057 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,583,437 (GRCm39)	M334T	probably damaging	Het
Rigi	T	C	4: 40,213,766 (GRCm39)	T586A	probably benign	Het
Robo2	C	T	16: 73,764,739 (GRCm39)	V630M	probably damaging	Het
Rptor	C	T	11: 119,783,467 (GRCm39)	R1154W	probably damaging	Het
Scnn1g	A	G	7: 121,339,778 (GRCm39)	I192M	possibly damaging	Het
Sit1	G	A	4: 43,482,815 (GRCm39)	Q115*	probably null	Het
Slc13a2	T	C	11: 78,295,350 (GRCm39)	N141S	probably damaging	Het
Slc19a2	C	A	1: 164,084,344 (GRCm39)	T78K	probably damaging	Het
Snx14	A	G	9: 88,287,291 (GRCm39)		probably null	Het
Stil	T	A	4: 114,896,346 (GRCm39)	C944S	probably benign	Het
Tex56	A	G	13: 35,108,596 (GRCm39)	N26S	probably benign	Het
Tnfaip2	A	G	12: 111,419,893 (GRCm39)	N675S	probably damaging	Het
Trim30c	A	G	7: 104,032,516 (GRCm39)	I270T	possibly damaging	Het
Ugt2a3	C	T	5: 87,474,932 (GRCm39)		probably null	Het
Vmn1r213	A	T	13: 23,195,588 (GRCm39)		probably benign	Het
Vmn2r8	A	C	5: 108,945,807 (GRCm39)		probably null	Het
Vps13c	T	C	9: 67,871,591 (GRCm39)	F3253L	possibly damaging	Het
Zbtb16	G	T	9: 48,576,575 (GRCm39)	Q502K	possibly damaging	Het
Zfp143	A	G	7: 109,676,354 (GRCm39)	K218E	possibly damaging	Het
Zfp946	A	G	17: 22,673,417 (GRCm39)	N57S	probably benign	Het
Zfp985	T	C	4: 147,667,314 (GRCm39)	Y61H	probably benign	Het
Zkscan1	G	A	5: 138,095,785 (GRCm39)	R246Q	probably damaging	Het
Zpld1	A	G	16: 55,071,978 (GRCm39)	F94L	probably damaging	Het
Zswim5	G	T	4: 116,844,103 (GRCm39)	W1047L	probably damaging	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
R0689:Klk1b1	UTSW	7	43,620,143 (GRCm39)	missense	probably benign
R1552:Klk1b1	UTSW	7	43,618,767 (GRCm39)	missense	probably damaging	1.00
R1697:Klk1b1	UTSW	7	43,619,750 (GRCm39)	missense	probably benign	0.01
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'- AAGTGTGAGTCTGGTCCAAGCAAC -3'
(R):5'- AGTCCCCTAAGCGATGTCACAGAG -3'

Sequencing Primer
(F):5'- AAGGACTTAGCTGGCACCTG -3'
(R):5'- TGTCACAGAGGAGAAATAGTACC -3'

Posted On

2013-04-16