Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Klk15'

153766

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klk15

Ensembl Gene

ENSMUSG00000055193

Gene Name

kallikrein related-peptidase 15

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

43933740-43939639 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43938838 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 190 (M190K)

Ref Sequence

ENSEMBL: ENSMUSP00000066969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068625]

Predicted Effect

probably damaging
Transcript: ENSMUST00000068625
AA Change: M190K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066969
Gene: ENSMUSG00000055193
AA Change: M190K

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Tryp_SPc	19	247	4.05e-93	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206172

Predicted Effect

probably benign
Transcript: ENSMUST00000206955

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Klk15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03113:Klk15	APN	7	43938381	missense	probably benign	0.00
R0562:Klk15	UTSW	7	43938845	nonsense	probably null
R1768:Klk15	UTSW	7	43938333	splice site	probably benign
R4093:Klk15	UTSW	7	43938780	missense	possibly damaging	0.67
R5859:Klk15	UTSW	7	43938376	missense	probably benign	0.17
R5899:Klk15	UTSW	7	43938823	missense	probably benign	0.02
R5907:Klk15	UTSW	7	43938759	missense	probably benign	0.16
R7781:Klk15	UTSW	7	43939556	missense	probably benign	0.44

Posted On

2014-02-04