Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01328:Klk1b27'

74365

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 #

IGL01328

Quality Score

Status

Chromosome

Chromosomal Location

44052290-44056712 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44055879 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 157 (S157P)

Ref Sequence

ENSEMBL: ENSMUSP00000078786 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000079859
AA Change: S157P

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

SMART Domains

Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177
AA Change: S157P

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	C	T	18: 59,048,882	S1131F	possibly damaging	Het
Alg14	G	A	3: 121,361,583	V151I	probably benign	Het
Ano5	G	A	7: 51,556,271		probably null	Het
Arhgef28	A	T	13: 97,970,323	C698S	probably damaging	Het
Cacnb4	T	C	2: 52,464,625	H247R	probably damaging	Het
Clec12b	A	T	6: 129,379,554	W216R	probably damaging	Het
Clnk	C	T	5: 38,784,528	S35N	possibly damaging	Het
Cnot4	T	A	6: 35,078,114	N80I	probably damaging	Het
Cntn5	C	T	9: 9,781,768	M635I	probably damaging	Het
Dlg5	A	G	14: 24,202,351	V107A	probably damaging	Het
Dsc2	A	T	18: 20,048,286	F155I	probably damaging	Het
Dtwd1	A	G	2: 126,164,819	I254V	probably damaging	Het
Dzip3	A	T	16: 48,972,258	D221E	probably damaging	Het
F13b	T	A	1: 139,508,082		probably benign	Het
Fam131b	G	A	6: 42,318,272	L324F	probably damaging	Het
Fam83a	A	T	15: 57,986,505	R148S	probably damaging	Het
Farsb	T	C	1: 78,471,092	I236V	probably benign	Het
Fat4	T	A	3: 38,980,658	F2820I	probably damaging	Het
Fat4	T	A	3: 38,889,991	V1011E	probably damaging	Het
Fgf7	A	G	2: 126,088,244	E99G	probably damaging	Het
Fign	T	C	2: 63,978,872	T685A	probably damaging	Het
Fubp1	G	A	3: 152,220,218	G289E	probably damaging	Het
Gata6	G	T	18: 11,064,530	M477I	probably damaging	Het
Gm14496	A	G	2: 181,995,880	Y249C	probably damaging	Het
Hectd1	T	C	12: 51,761,121	D1768G	probably damaging	Het
Htatip2	T	A	7: 49,770,949		probably null	Het
Irs2	C	A	8: 11,004,792	Q1213H	probably damaging	Het
Jak3	C	T	8: 71,679,620	R210C	probably damaging	Het
Klri1	T	C	6: 129,698,837	S157G	probably damaging	Het
Mtmr2	G	T	9: 13,801,927	G395*	probably null	Het
Mx1	T	A	16: 97,455,632	I116F	probably damaging	Het
Oip5	A	C	2: 119,611,833	M200R	possibly damaging	Het
Olfr1118	T	A	2: 87,309,581	L284Q	possibly damaging	Het
Olfr1285	A	G	2: 111,409,219	Y268C	probably damaging	Het
Olfr1512	T	C	14: 52,372,510	D181G	probably damaging	Het
Olfr32	T	C	2: 90,139,074	K22E	probably benign	Het
Pamr1	T	A	2: 102,642,137	S594T	probably benign	Het
Phf13	C	T	4: 151,995,828	E13K	probably benign	Het
Plekha6	A	T	1: 133,272,336		probably null	Het
Rad17	A	C	13: 100,617,803	N636K	probably benign	Het
Rad21	T	A	15: 51,973,124	D217V	probably damaging	Het
Slc7a10	A	G	7: 35,186,492	D4G	possibly damaging	Het
Stc1	A	G	14: 69,038,277	D173G	probably benign	Het
Supt16	C	T	14: 52,177,032	E438K	probably benign	Het
Tex15	C	T	8: 33,571,396	Q559*	probably null	Het
Trim44	T	A	2: 102,400,020	E222V	probably benign	Het
Ubr5	T	C	15: 37,981,523	E2343G	possibly damaging	Het
Vmn2r86	T	C	10: 130,452,496	T379A	possibly damaging	Het
Vmn2r93	A	G	17: 18,325,557	T564A	probably benign	Het
Vsir	C	A	10: 60,367,760		probably benign	Het
Vwc2l	T	A	1: 70,729,004		probably null	Het
Xrn2	T	C	2: 147,029,930	V396A	possibly damaging	Het
Zbbx	T	A	3: 75,093,075	K208*	probably null	Het
Zfhx4	C	A	3: 5,244,284	L857M	probably damaging	Het
Zfp180	A	G	7: 24,101,479	D53G	probably benign	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
IGL01552:Klk1b27	APN	7	44054615	missense	probably damaging	1.00
IGL01632:Klk1b27	APN	7	44056673	utr 3 prime	probably benign
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

2013-10-07