Mutagenetix > Incidental Mutation

Incidental Mutation 'R2177:Klk1b1'

236938

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

040179-MU

Accession Numbers

Essential gene?

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

Stock #

R2177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43616175-43620742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43618695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 24 (R24L)

Ref Sequence

ENSEMBL: ENSMUSP00000077879 (fasta)

Gene Model

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

AlphaFold

P00755

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078835
AA Change: R24L

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077879
Gene: ENSMUSG00000063133
AA Change: R24L

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

0.5915

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (60/62)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,312 (GRCm39)	N356K	probably damaging	Het
Acap2	C	T	16: 30,952,346 (GRCm39)		probably null	Het
Adamts19	T	C	18: 59,087,626 (GRCm39)	L552P	possibly damaging	Het
Adamts2	T	A	11: 50,668,055 (GRCm39)	M539K	probably damaging	Het
Aplp1	A	T	7: 30,141,946 (GRCm39)	C210*	probably null	Het
Apoa1	A	T	9: 46,141,371 (GRCm39)	K156*	probably null	Het
AW551984	G	A	9: 39,511,111 (GRCm39)	R159C	probably benign	Het
Bok	C	T	1: 93,622,787 (GRCm39)	Q112*	probably null	Het
Cemip2	T	C	19: 21,789,149 (GRCm39)	S528P	possibly damaging	Het
Cfap57	T	G	4: 118,463,885 (GRCm39)	I323L	probably benign	Het
Cfap69	T	A	5: 5,675,803 (GRCm39)	E270D	probably damaging	Het
Ch25h	G	T	19: 34,452,097 (GRCm39)	L144M	probably damaging	Het
Clcn6	T	A	4: 148,099,057 (GRCm39)	I429F	possibly damaging	Het
Cpb1	T	A	3: 20,320,611 (GRCm39)	T115S	probably benign	Het
Csf1r	T	A	18: 61,248,015 (GRCm39)		probably benign	Het
Ddx6	A	G	9: 44,539,028 (GRCm39)	T279A	probably damaging	Het
Dnah8	A	G	17: 30,872,367 (GRCm39)	H452R	probably benign	Het
Dscam	T	A	16: 96,411,524 (GRCm39)	D1784V	probably damaging	Het
Exo1	T	A	1: 175,710,456 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,164,905 (GRCm39)	S459P	probably damaging	Het
Fxyd4	C	T	6: 117,911,393 (GRCm39)	A56T	probably damaging	Het
Gbf1	T	C	19: 46,254,109 (GRCm39)	S599P	probably benign	Het
Iqce	T	C	5: 140,677,348 (GRCm39)		probably benign	Het
Kat2a	A	G	11: 100,601,648 (GRCm39)	F256L	probably damaging	Het
Krtap16-1	A	G	11: 99,877,275 (GRCm39)	V43A	probably damaging	Het
Maea	C	G	5: 33,529,034 (GRCm39)	Q326E	probably benign	Het
Man1a2	A	T	3: 100,539,847 (GRCm39)	I308N	probably damaging	Het
Marf1	G	T	16: 13,970,471 (GRCm39)	R83S	probably benign	Het
Me3	A	C	7: 89,282,278 (GRCm39)	T54P	probably benign	Het
Mme	A	T	3: 63,208,426 (GRCm39)	I63L	probably benign	Het
Mmel1	A	G	4: 154,978,560 (GRCm39)	N664S	probably damaging	Het
Mrgprb2	A	G	7: 48,202,128 (GRCm39)	V199A	probably benign	Het
Mrpl36	T	A	13: 73,479,588 (GRCm39)	F33I	probably benign	Het
Nlrp4e	A	T	7: 23,054,686 (GRCm39)	T947S	probably benign	Het
Or14c45	G	A	7: 86,176,870 (GRCm39)	V302I	probably benign	Het
Or4b1d	T	A	2: 89,968,808 (GRCm39)	H225L	possibly damaging	Het
Or8b55	A	T	9: 38,727,482 (GRCm39)	I228F	possibly damaging	Het
Parp4	A	T	14: 56,896,746 (GRCm39)	R1923S	unknown	Het
Pcm1	T	C	8: 41,729,002 (GRCm39)	V658A	probably benign	Het
Pkhd1l1	A	G	15: 44,322,791 (GRCm39)	S26G	probably benign	Het
Prom1	A	T	5: 44,184,081 (GRCm39)	H433Q	possibly damaging	Het
Rab7	T	C	6: 87,982,063 (GRCm39)	D104G	probably damaging	Het
Rabgap1l	A	G	1: 160,551,632 (GRCm39)	V282A	possibly damaging	Het
Rdh13	T	C	7: 4,430,666 (GRCm39)	E264G	possibly damaging	Het
Rock1	C	G	18: 10,070,263 (GRCm39)	R1270T	probably benign	Het
Sdhaf4	C	T	1: 24,035,370 (GRCm39)	G93R	probably damaging	Het
Sec24a	T	C	11: 51,595,228 (GRCm39)	T910A	probably benign	Het
Sesn1	A	G	10: 41,779,778 (GRCm39)	H345R	possibly damaging	Het
Snx4	T	A	16: 33,106,428 (GRCm39)		probably null	Het
Tchh	A	G	3: 93,351,439 (GRCm39)	E293G	unknown	Het
Ulk2	T	A	11: 61,682,335 (GRCm39)	T727S	probably benign	Het
Usp53	T	C	3: 122,729,706 (GRCm39)	E756G	probably damaging	Het
Vmn2r68	G	A	7: 84,871,123 (GRCm39)	A720V	probably benign	Het
Vmn2r79	A	G	7: 86,645,839 (GRCm39)	N56S	possibly damaging	Het
Washc5	A	T	15: 59,235,118 (GRCm39)	Y263*	probably null	Het
Zfp119b	A	T	17: 56,245,639 (GRCm39)	C516S	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
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
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
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'- CTGTACCCACAGCATAGATCTC -3'
(R):5'- CTACAGTACCCCAGCTTGTC -3'

Sequencing Primer
(F):5'- TAGATCTCCCTATCCAAGACCAG -3'
(R):5'- GTCATGATCTATGGCTGCCAC -3'

Posted On

2014-10-02