Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01632:Klk1b27'

93510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klk1b27

Ensembl Gene

ENSMUSG00000063177

Gene Name

kallikrein 1-related peptidase b27

Synonyms

mGK-27, Klk27, Klk21l

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL01632

Quality Score

Status

Chromosome

Chromosomal Location

44052290-44056712 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to T at 44056673 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079859]

Predicted Effect

probably benign
Transcript: ENSMUST00000079859

SMART Domains

Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	255	1.87e-97	SMART

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Alms1	T	A	6: 85,627,946	C1724S	probably benign	Het
Anapc10	T	C	8: 79,713,166	M1T	probably null	Het
Antxrl	A	G	14: 34,067,947	N332S	probably damaging	Het
Ccdc105	T	C	10: 78,748,702	S329G	probably benign	Het
Cdkl3	A	G	11: 52,005,072	R49G	probably damaging	Het
Chodl	A	G	16: 78,944,564		probably benign	Het
Clca1	G	T	3: 145,027,441	A102D	probably damaging	Het
Clip1	T	C	5: 123,617,496	E1029G	probably damaging	Het
Cpeb2	T	A	5: 43,237,422	I581N	probably benign	Het
Dmxl1	T	C	18: 49,863,025	V406A	probably damaging	Het
Dnah17	C	T	11: 118,033,881	R3960Q	probably damaging	Het
Fstl5	A	G	3: 76,707,828	D732G	probably benign	Het
Fyb2	G	T	4: 104,995,811	V499L	probably benign	Het
Gm43191	A	T	3: 116,651,467	H39Q	probably damaging	Het
Hspg2	A	G	4: 137,514,773	K606R	probably damaging	Het
Mdga2	T	C	12: 66,629,898		probably benign	Het
Mup14	A	T	4: 61,303,384	F56L	probably benign	Het
Myh15	A	G	16: 49,061,511	K39E	probably benign	Het
Olfr1024	A	G	2: 85,904,370	I228T	probably benign	Het
Olfr338	A	T	2: 36,377,564	N263Y	probably benign	Het
Ppp1r3a	T	A	6: 14,754,811	I146F	probably damaging	Het
Ryr2	A	G	13: 11,594,968	I759T	probably damaging	Het
Sfmbt1	T	C	14: 30,817,712	I819T	probably damaging	Het
Siglec1	A	G	2: 131,083,820	V322A	probably benign	Het
Spata3	T	C	1: 86,022,308	V87A	possibly damaging	Het
Tacstd2	A	G	6: 67,534,799	V303A	possibly damaging	Het
Taok3	T	A	5: 117,265,928	F723I	possibly damaging	Het
Vmn1r210	A	T	13: 22,827,196	*307R	probably null	Het
Vmn2r70	T	C	7: 85,566,072	I85V	probably benign	Het
Zfp384	T	C	6: 125,024,761	I123T	probably damaging	Het

Other mutations in Klk1b27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Klk1b27	APN	7	44056143	critical splice donor site	probably null
IGL01328:Klk1b27	APN	7	44055879	missense	probably damaging	1.00
IGL01552:Klk1b27	APN	7	44054615	missense	probably damaging	1.00
R0574:Klk1b27	UTSW	7	44056101	missense	probably damaging	1.00
R4723:Klk1b27	UTSW	7	44056532	missense	probably damaging	1.00
R5800:Klk1b27	UTSW	7	44055664	missense	probably benign	0.21
R6002:Klk1b27	UTSW	7	44055690	missense	probably benign
R6244:Klk1b27	UTSW	7	44054550	missense	probably benign	0.05
R6513:Klk1b27	UTSW	7	44055745	missense	probably benign	0.00
R6584:Klk1b27	UTSW	7	44054511	missense	possibly damaging	0.84
R6633:Klk1b27	UTSW	7	44055810	missense	probably damaging	0.98
R7074:Klk1b27	UTSW	7	44056553	missense	probably damaging	1.00
R7495:Klk1b27	UTSW	7	44056076	missense	probably benign
R7830:Klk1b27	UTSW	7	44055726	missense	probably benign	0.00
R8002:Klk1b27	UTSW	7	44056021	missense	probably benign	0.01
X0024:Klk1b27	UTSW	7	44056593	missense	probably benign	0.08

Posted On

2013-12-09