Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02272:Klk1b8'

287167

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klk1b8

Ensembl Gene

ENSMUSG00000063089

Gene Name

kallikrein 1-related peptidase b8

Synonyms

mGK-8, Klk8, TADG14

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

43950664-43954941 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43952793 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 50 (C50S)

Ref Sequence

ENSEMBL: ENSMUSP00000072063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072204]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072204
AA Change: C50S

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

SMART Domains

Protein: ENSMUSP00000072063
Gene: ENSMUSG00000063089
AA Change: C50S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	1.03e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206764

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,450,021	C759*	probably null	Het
Adgrg6	T	A	10: 14,468,829	M127L	probably damaging	Het
AI314180	A	T	4: 58,811,731	N1439K	probably benign	Het
Anxa9	A	G	3: 95,305,894	V47A	probably benign	Het
Arhgef12	T	A	9: 43,001,452	D483V	probably damaging	Het
Arrdc3	C	A	13: 80,891,650		probably benign	Het
Ccdc169	A	G	3: 55,150,748	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,960,022	V731D	possibly damaging	Het
Cdh3	G	T	8: 106,547,836		probably null	Het
Cntnap1	G	A	11: 101,178,316	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,757,411	V852E	probably damaging	Het
Csmd1	A	T	8: 16,199,893	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,993,265		probably benign	Het
Dusp6	T	A	10: 99,266,019	V289D	probably damaging	Het
Epha6	C	T	16: 59,818,937	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,779,704	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,269,803	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,164,781	V152E	probably benign	Het
Hmces	A	G	6: 87,917,855		probably null	Het
Hsph1	A	G	5: 149,617,530	S852P	probably benign	Het
Kat6b	A	C	14: 21,626,778	K394Q	probably damaging	Het
Kdr	G	A	5: 75,961,840	T475I	probably benign	Het
Klhl25	A	G	7: 75,866,620	T425A	probably benign	Het
Kri1	T	C	9: 21,276,168	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,305,769	S953P	probably benign	Het
Lpin1	A	G	12: 16,547,600	V681A	probably damaging	Het
Lpin3	A	G	2: 160,901,661	T508A	probably benign	Het
Moxd1	T	A	10: 24,282,700	Y417*	probably null	Het
Mthfd1l	T	G	10: 4,041,812	I588S	probably damaging	Het
Myo5c	C	A	9: 75,266,160	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,884,600		probably benign	Het
Nme8	T	C	13: 19,658,826	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,567,979	N249T	probably damaging	Het
Pex11g	A	G	8: 3,465,898	V45A	probably benign	Het
Pkhd1	C	A	1: 20,209,260	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,993,628	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,236,489	V353A	probably damaging	Het
Prss16	T	A	13: 22,003,035	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,721,208	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,716,566	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,598,782	L598F	probably damaging	Het
Sardh	T	G	2: 27,224,991	D550A	probably benign	Het
Serpinc1	T	G	1: 160,999,992	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,121,167	D650V	probably benign	Het
Sipa1l2	T	A	8: 125,492,011	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,583,568	T294A	probably benign	Het
Srrm2	T	C	17: 23,815,782		probably benign	Het
Steap2	T	A	5: 5,677,612	N241I	probably benign	Het
Tcaf3	T	C	6: 42,596,660	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,978,463	Q322L	probably damaging	Het
Tnni2	C	A	7: 142,443,429	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,735,028	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,976,153	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071	K331N	probably damaging	Het
Usp50	G	A	2: 126,769,944	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,385,999	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,386,004	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,786,884	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,750,693	R383G	probably benign	Het

Other mutations in Klk1b8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Klk1b8	APN	7	43954786	missense	probably benign	0.40
IGL01076:Klk1b8	APN	7	43954855	missense	probably damaging	1.00
IGL01685:Klk1b8	APN	7	43954870	missense	possibly damaging	0.88
IGL01771:Klk1b8	APN	7	43954866	missense	probably damaging	0.99
IGL02596:Klk1b8	APN	7	43952763	missense	probably damaging	1.00
R0789:Klk1b8	UTSW	7	43945727	unclassified	probably benign
R1005:Klk1b8	UTSW	7	43954334	nonsense	probably null
R1628:Klk1b8	UTSW	7	43954141	splice site	probably null
R1688:Klk1b8	UTSW	7	43945805	unclassified	probably benign
R1954:Klk1b8	UTSW	7	43953848	splice site	probably benign
R4344:Klk1b8	UTSW	7	43945762	unclassified	probably benign
R6294:Klk1b8	UTSW	7	43952772	missense	probably damaging	1.00
R6941:Klk1b8	UTSW	7	43952789	missense	possibly damaging	0.83

Posted On

2015-04-16