Mutagenetix > Incidental Mutations

Incidental Mutation 'R2159:Klk1b1'

235047

Institutional Source

Beutler Lab

Gene Symbol

Klk1b1

Ensembl Gene

ENSMUSG00000063133

Gene Name

kallikrein 1-related peptidase b1

Synonyms

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

MMRRC Submission

040162-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2159 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43966751-43971318 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43970433 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 139 (I139F)

Ref Sequence

ENSEMBL: ENSMUSP00000077879 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000078835
AA Change: I139F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077879
Gene: ENSMUSG00000063133
AA Change: I139F

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,560,467	P174S	probably benign	Het
Aida	C	T	1: 183,322,379	P185S	probably benign	Het
Alg11	T	G	8: 22,065,845	I374R	probably benign	Het
Ano9	T	C	7: 141,108,117	I229V	probably benign	Het
Apob	A	T	12: 8,010,081	L2821F	probably benign	Het
Atp10b	C	T	11: 43,151,853	T80I	possibly damaging	Het
BC024139	T	C	15: 76,121,488	H478R	probably damaging	Het
Btbd1	A	T	7: 81,801,056	D325E	possibly damaging	Het
Camk2a	G	A	18: 60,957,185	C199Y	probably damaging	Het
Casp3	A	G	8: 46,634,288	D90G	probably damaging	Het
Ccnt2	A	G	1: 127,775,154	H71R	probably benign	Het
Cdk2ap1	G	A	5: 124,348,604	R65*	probably null	Het
Cebpb	G	T	2: 167,689,253	A78S	probably benign	Het
Col5a3	A	G	9: 20,771,310	F1613L	unknown	Het
Cpd	T	C	11: 76,797,641	D935G	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cwc27	A	G	13: 104,804,329	I174T	probably damaging	Het
Cyp21a1	C	A	17: 34,802,404	R331L	probably benign	Het
Dnah5	A	G	15: 28,252,545	T795A	probably benign	Het
Eif2ak2	A	G	17: 78,874,018	V100A	possibly damaging	Het
Foxa3	A	G	7: 19,014,184	V339A	probably benign	Het
Gp2	T	C	7: 119,452,284	D236G	probably benign	Het
Gprc6a	CAAA	CA	10: 51,615,680		probably null	Het
Gzmd	T	A	14: 56,130,696	H102L	probably damaging	Het
Lcmt2	G	A	2: 121,139,285	P439L	probably damaging	Het
Loxl4	C	T	19: 42,600,007	A570T	probably damaging	Het
Mga	T	A	2: 119,919,643	H674Q	probably damaging	Het
Mybpc3	A	T	2: 91,125,370	K583M	probably damaging	Het
Ncoa6	G	T	2: 155,407,713	P1224T	probably damaging	Het
Nostrin	A	G	2: 69,180,922		probably null	Het
Olfr1264	A	T	2: 90,021,538	V176E	probably damaging	Het
Olfr70	T	C	4: 43,697,110	H21R	probably benign	Het
Oxsr1	A	C	9: 119,304,814	D58E	possibly damaging	Het
Parm1	A	G	5: 91,613,064	Y265C	probably damaging	Het
Phf10	C	T	17: 14,952,664	E304K	probably damaging	Het
Prmt5	T	C	14: 54,515,338	T139A	probably benign	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Ptp4a3	A	G	15: 73,752,016	T32A	probably benign	Het
Pwwp2b	A	T	7: 139,254,928	D95V	possibly damaging	Het
Rad51ap2	T	C	12: 11,457,751	L558S	possibly damaging	Het
Rapgef4	A	G	2: 72,174,881	D80G	probably damaging	Het
Sec24a	T	G	11: 51,712,350	H757P	probably damaging	Het
Sema4d	T	C	13: 51,720,535	N129D	probably damaging	Het
Serpini1	A	G	3: 75,623,944	T323A	probably benign	Het
Setd1a	G	A	7: 127,785,489	R504H	possibly damaging	Het
Sftpb	T	C	6: 72,309,786	C226R	probably damaging	Het
Sp8	T	C	12: 118,848,706	S99P	possibly damaging	Het
Srgap3	A	G	6: 112,771,378	F438L	probably damaging	Het
Stim2	T	C	5: 54,109,814	Y365H	probably damaging	Het
Stk36	A	G	1: 74,634,737	Q1263R	probably benign	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Troap	G	T	15: 99,077,586	A184S	probably damaging	Het
Ttn	G	A	2: 76,899,327		probably benign	Het
Vmn2r108	C	A	17: 20,469,101	A531S	probably benign	Het
Vmn2r12	T	A	5: 109,091,474	I408F	probably benign	Het
Vmn2r8	T	A	5: 108,802,303	E226V	probably benign	Het
Vmo1	A	G	11: 70,513,782	F131S	probably benign	Het
Vwf	T	C	6: 125,626,341	F885L	probably damaging	Het
Wdpcp	A	T	11: 21,857,476	M618L	probably benign	Het
Wdr90	T	C	17: 25,851,741	E1072G	probably benign	Het

Other mutations in Klk1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Klk1b1	APN	7	43971169	missense	possibly damaging	0.83
IGL02794:Klk1b1	APN	7	43970365	missense	possibly damaging	0.62
IGL03266:Klk1b1	APN	7	43970476	missense	probably benign	0.18
R0324:Klk1b1	UTSW	7	43970741	nonsense	probably null
R0689:Klk1b1	UTSW	7	43970719	missense	probably benign
R1552:Klk1b1	UTSW	7	43969343	missense	probably damaging	1.00
R1697:Klk1b1	UTSW	7	43970326	missense	probably benign	0.01
R1737:Klk1b1	UTSW	7	43970359	missense	probably benign	0.01
R2060:Klk1b1	UTSW	7	43970623	missense	possibly damaging	0.73
R2177:Klk1b1	UTSW	7	43969271	missense	possibly damaging	0.63
R2213:Klk1b1	UTSW	7	43970481	missense	probably damaging	1.00
R2509:Klk1b1	UTSW	7	43969379	missense	probably damaging	1.00
R2510:Klk1b1	UTSW	7	43969379	missense	probably damaging	1.00
R3849:Klk1b1	UTSW	7	43969327	missense	probably damaging	1.00
R5567:Klk1b1	UTSW	7	43971169	missense	probably damaging	0.99
R6191:Klk1b1	UTSW	7	43970657	missense	probably damaging	1.00
R7162:Klk1b1	UTSW	7	43969247	missense	probably damaging	0.99
R7535:Klk1b1	UTSW	7	43970322	missense	probably damaging	1.00
R7752:Klk1b1	UTSW	7	43971245	missense	probably damaging	1.00
R7901:Klk1b1	UTSW	7	43971245	missense	probably damaging	1.00
R8320:Klk1b1	UTSW	7	43970343	missense	possibly damaging	0.86
R8379:Klk1b1	UTSW	7	43970343	missense	possibly damaging	0.86
R8381:Klk1b1	UTSW	7	43970343	missense	possibly damaging	0.86
R8383:Klk1b1	UTSW	7	43970343	missense	possibly damaging	0.86
R8511:Klk1b1	UTSW	7	43970343	missense	possibly damaging	0.86
X0012:Klk1b1	UTSW	7	43970659	missense	probably benign	0.05
Z1088:Klk1b1	UTSW	7	43970401	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAAGATGAACCCTCTGCTC -3'
(R):5'- CCTCATTAGGCAGGAGCTTG -3'

Sequencing Primer
(F):5'- TGCTCAGCACCGATTAGTCAG -3'
(R):5'- AGCTTGAGGTTCACACACTG -3'

Posted On

2014-10-01