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

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

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

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

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43966751-43971318 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43970326 bp (GRCm38)

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: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	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
R1737:Klk1b1	UTSW	7	43970359	missense	probably benign	0.01
R2060:Klk1b1	UTSW	7	43970623	missense	possibly damaging	0.73
R2159:Klk1b1	UTSW	7	43970433	missense	probably damaging	0.97
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
R8867:Klk1b1	UTSW	7	43970323	missense	probably damaging	0.98
R9089:Klk1b1	UTSW	7	43971244	missense	possibly damaging	0.77
R9179:Klk1b1	UTSW	7	43969291	missense	probably damaging	1.00
R9761:Klk1b1	UTSW	7	43969315	missense	possibly damaging	0.79
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'- TTACCTGCTGGGGAAGTACAGACC -3'
(R):5'- GCTTGGACCAGACTCACACTTGAC -3'

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

Posted On

2014-05-14