Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02500:Klk1b24'

296022

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klk1b24

Ensembl Gene

ENSMUSG00000063713

Gene Name

kallikrein 1-related peptidase b24

Synonyms

mGk-24, Klk24

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

43837660-43841879 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 43837748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000073392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073713]

AlphaFold

Q61754

Predicted Effect

probably benign
Transcript: ENSMUST00000073713

SMART Domains

Protein: ENSMUSP00000073392
Gene: ENSMUSG00000063713

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	255	1.22e-96	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206937

Coding Region Coverage

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]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,856,338 (GRCm39)	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,228,215 (GRCm39)	L674*	probably null	Het
Arhgef10	G	A	8: 15,011,238 (GRCm39)	E265K	probably damaging	Het
Ccn1	T	C	3: 145,354,455 (GRCm39)	K152R	probably damaging	Het
Cd53	A	G	3: 106,676,142 (GRCm39)	I75T	probably damaging	Het
Col26a1	A	T	5: 136,783,193 (GRCm39)	L235*	probably null	Het
Crem	G	T	18: 3,273,477 (GRCm39)	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,358,887 (GRCm39)	D344G	probably damaging	Het
Dchs1	T	C	7: 105,405,013 (GRCm39)	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,965,456 (GRCm39)	Q215R	possibly damaging	Het
Espl1	A	G	15: 102,224,235 (GRCm39)	H1262R	probably benign	Het
Exoc2	G	T	13: 31,095,179 (GRCm39)	T239K	probably damaging	Het
Fzd6	A	T	15: 38,894,781 (GRCm39)	S316C	probably damaging	Het
Htra1	A	G	7: 130,586,704 (GRCm39)	K429R	probably benign	Het
Il1rapl2	C	T	X: 137,747,252 (GRCm39)	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,568,419 (GRCm39)		probably benign	Het
Kiz	G	A	2: 146,705,733 (GRCm39)	V98I	probably benign	Het
Lrrc30	T	A	17: 67,938,857 (GRCm39)	N241I	probably damaging	Het
Map2k4	A	G	11: 65,587,136 (GRCm39)	V288A	probably damaging	Het
Mefv	T	C	16: 3,531,441 (GRCm39)	H459R	probably damaging	Het
Mettl21a	G	T	1: 64,647,213 (GRCm39)	Q115K	probably benign	Het
Msra	A	G	14: 64,522,637 (GRCm39)		probably benign	Het
Myh8	G	A	11: 67,196,536 (GRCm39)	R1752H	probably benign	Het
Nrp1	T	C	8: 129,152,280 (GRCm39)	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,042,646 (GRCm39)	Y60F	probably damaging	Het
Pax6	G	T	2: 105,523,115 (GRCm39)	R317L	probably benign	Het
Pcdh17	A	G	14: 84,770,909 (GRCm39)	E1129G	probably benign	Het
Phlpp2	C	T	8: 110,640,250 (GRCm39)	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prkce	A	G	17: 86,476,342 (GRCm39)	N108D	probably benign	Het
Prkdc	T	G	16: 15,532,146 (GRCm39)		probably null	Het
Ptprm	T	C	17: 67,227,043 (GRCm39)	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 179,921,122 (GRCm39)	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,693,323 (GRCm39)	L33F	probably benign	Het
Slc16a7	T	A	10: 125,066,802 (GRCm39)	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,696,142 (GRCm39)	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Sspo	C	A	6: 48,455,313 (GRCm39)	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,815,182 (GRCm39)		probably null	Het
Txnrd1	T	G	10: 82,715,051 (GRCm39)	W98G	probably damaging	Het
Ulk1	A	T	5: 110,957,000 (GRCm39)	I66N	probably damaging	Het
Ush2a	A	G	1: 188,554,893 (GRCm39)	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,077,650 (GRCm39)	H172L	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp592	T	A	7: 80,691,474 (GRCm39)	C1218S	probably benign	Het

Other mutations in Klk1b24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Klk1b24	APN	7	43,841,057 (GRCm39)	missense	probably damaging	0.96
IGL02394:Klk1b24	APN	7	43,841,294 (GRCm39)	missense	possibly damaging	0.65
IGL03030:Klk1b24	APN	7	43,840,790 (GRCm39)	missense	probably benign
R1458:Klk1b24	UTSW	7	43,840,890 (GRCm39)	missense	possibly damaging	0.49
R1465:Klk1b24	UTSW	7	43,840,785 (GRCm39)	missense	probably benign	0.24
R1465:Klk1b24	UTSW	7	43,840,785 (GRCm39)	missense	probably benign	0.24
R1714:Klk1b24	UTSW	7	43,840,939 (GRCm39)	missense	probably damaging	1.00
R1771:Klk1b24	UTSW	7	43,837,653 (GRCm39)	splice site	probably null
R1791:Klk1b24	UTSW	7	43,839,852 (GRCm39)	splice site	probably null
R3690:Klk1b24	UTSW	7	43,841,243 (GRCm39)	missense	probably benign
R4726:Klk1b24	UTSW	7	43,839,820 (GRCm39)	missense	probably damaging	1.00
R5654:Klk1b24	UTSW	7	43,840,889 (GRCm39)	missense	probably benign	0.00
R5883:Klk1b24	UTSW	7	43,839,787 (GRCm39)	missense	probably benign	0.00
R6775:Klk1b24	UTSW	7	43,840,889 (GRCm39)	missense	probably benign	0.05
R7083:Klk1b24	UTSW	7	43,841,225 (GRCm39)	missense	probably damaging	1.00
R7484:Klk1b24	UTSW	7	43,839,688 (GRCm39)	critical splice acceptor site	probably null
R7644:Klk1b24	UTSW	7	43,841,304 (GRCm39)	splice site	probably null
R9761:Klk1b24	UTSW	7	43,839,779 (GRCm39)	missense	possibly damaging	0.61

Posted On

2015-04-16