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: 0.054) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

44188236-44192455 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 44188324 bp (GRCm38)

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: 118,618,926	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,337,389	L674*	probably null	Het
Arhgef10	G	A	8: 14,961,238	E265K	probably damaging	Het
Cd53	A	G	3: 106,768,826	I75T	probably damaging	Het
Col26a1	A	T	5: 136,754,339	L235*	probably null	Het
Crem	G	T	18: 3,273,477	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,470,650	D344G	probably damaging	Het
Cyr61	T	C	3: 145,648,700	K152R	probably damaging	Het
Dchs1	T	C	7: 105,755,806	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,988,088	Q215R	possibly damaging	Het
Espl1	A	G	15: 102,315,800	H1262R	probably benign	Het
Exoc2	G	T	13: 30,911,196	T239K	probably damaging	Het
Fzd6	A	T	15: 39,031,386	S316C	probably damaging	Het
Htra1	A	G	7: 130,984,974	K429R	probably benign	Het
Il1rapl2	C	T	X: 138,846,503	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,661,112		probably benign	Het
Kiz	G	A	2: 146,863,813	V98I	probably benign	Het
Lrrc30	T	A	17: 67,631,862	N241I	probably damaging	Het
Map2k4	A	G	11: 65,696,310	V288A	probably damaging	Het
Mefv	T	C	16: 3,713,577	H459R	probably damaging	Het
Mettl21a	G	T	1: 64,608,054	Q115K	probably benign	Het
Msra	A	G	14: 64,285,188		probably benign	Het
Myh8	G	A	11: 67,305,710	R1752H	probably benign	Het
Nrp1	T	C	8: 128,425,799	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,135,330	Y60F	probably damaging	Het
Pax6	G	T	2: 105,692,770	R317L	probably benign	Het
Pcdh17	A	G	14: 84,533,469	E1129G	probably benign	Het
Phlpp2	C	T	8: 109,913,618	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prkce	A	G	17: 86,168,914	N108D	probably benign	Het
Prkdc	T	G	16: 15,714,282		probably null	Het
Ptprm	T	C	17: 66,920,048	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 180,279,329	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,872,960	L33F	probably benign	Het
Slc16a7	T	A	10: 125,230,933	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,388,713	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sspo	C	A	6: 48,478,379	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,667,323		probably null	Het
Txnrd1	T	G	10: 82,879,217	W98G	probably damaging	Het
Ulk1	A	T	5: 110,809,134	I66N	probably damaging	Het
Ush2a	A	G	1: 188,822,696	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,428,226	H172L	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	A	7: 81,041,726	C1218S	probably benign	Het

Other mutations in Klk1b24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Klk1b24	APN	7	44191633	missense	probably damaging	0.96
IGL02394:Klk1b24	APN	7	44191870	missense	possibly damaging	0.65
IGL03030:Klk1b24	APN	7	44191366	missense	probably benign
R1458:Klk1b24	UTSW	7	44191466	missense	possibly damaging	0.49
R1465:Klk1b24	UTSW	7	44191361	missense	probably benign	0.24
R1465:Klk1b24	UTSW	7	44191361	missense	probably benign	0.24
R1714:Klk1b24	UTSW	7	44191515	missense	probably damaging	1.00
R1771:Klk1b24	UTSW	7	44188229	splice site	probably null
R1791:Klk1b24	UTSW	7	44190428	splice site	probably null
R3690:Klk1b24	UTSW	7	44191819	missense	probably benign
R4726:Klk1b24	UTSW	7	44190396	missense	probably damaging	1.00
R5654:Klk1b24	UTSW	7	44191465	missense	probably benign	0.00
R5883:Klk1b24	UTSW	7	44190363	missense	probably benign	0.00
R6775:Klk1b24	UTSW	7	44191465	missense	probably benign	0.05
R7083:Klk1b24	UTSW	7	44191801	missense	probably damaging	1.00
R7484:Klk1b24	UTSW	7	44190264	critical splice acceptor site	probably null
R7644:Klk1b24	UTSW	7	44191880	splice site	probably null
R9761:Klk1b24	UTSW	7	44190355	missense	possibly damaging	0.61

Posted On

2015-04-16