Mutagenetix > Incidental Mutations

Incidental Mutation 'R8002:Klk1b27'

616408

Institutional Source

Beutler Lab

Gene Symbol

Klk1b27

Ensembl Gene

ENSMUSG00000063177

Gene Name

kallikrein 1-related peptidase b27

Synonyms

mGK-27, Klk27, Klk21l

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44052290-44056712 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44056021 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 172 (D172E)

Ref Sequence

ENSEMBL: ENSMUSP00000078786 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000079859
AA Change: D172E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177
AA Change: D172E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	C	T	7: 119,573,257	R133C	possibly damaging	Het
Adgrf4	T	C	17: 42,667,792	E220G	probably benign	Het
Alx3	T	A	3: 107,600,739	L188*	probably null	Het
Arhgef2	A	T	3: 88,646,810	I969F	probably damaging	Het
Atf6	A	G	1: 170,819,254	V350A	probably benign	Het
Atp1a3	C	A	7: 25,000,671	G88V	probably damaging	Het
Brd8	T	C	18: 34,608,556	T360A	probably benign	Het
Casp1	C	A	9: 5,303,164	T206K	possibly damaging	Het
Ccdc150	A	G	1: 54,272,497	E214G	probably damaging	Het
Ccdc81	T	C	7: 89,876,135	E477G	probably benign	Het
Celsr2	G	T	3: 108,403,969	R1409S	probably damaging	Het
Chd6	T	C	2: 160,990,321	D977G	probably damaging	Het
Cpne3	A	T	4: 19,528,232	F342I	probably damaging	Het
Crot	A	C	5: 8,993,599	S8A	probably benign	Het
Cyp11b2	T	C	15: 74,856,032	H67R	probably damaging	Het
Dnah1	A	T	14: 31,298,722	L1230H	probably damaging	Het
Dqx1	G	A	6: 83,058,577	D24N	probably damaging	Het
Gabrg3	T	C	7: 56,734,968	T282A	possibly damaging	Het
Gm10093	T	C	17: 78,492,287	S236P	probably damaging	Het
Gm13199	A	G	2: 5,862,647	S13P	unknown	Het
Gnptab	A	T	10: 88,440,268	D1139V	probably benign	Het
Jtb	T	C	3: 90,233,944	S76P	probably benign	Het
Lpcat4	G	A	2: 112,244,354	V307I	probably benign	Het
Ltn1	A	C	16: 87,415,947	S575R	probably benign	Het
Map3k13	A	G	16: 21,905,128	T287A	probably benign	Het
Marco	T	G	1: 120,494,780	I58L	probably benign	Het
Nadk	G	T	4: 155,577,198		probably null	Het
Olfr746	A	T	14: 50,653,857	I207F	probably damaging	Het
Otof	G	A	5: 30,380,610	T1215I	probably benign	Het
Pigw	A	T	11: 84,878,423	C27S	probably benign	Het
Pla2g10	A	T	16: 13,725,048	M125K	unknown	Het
Rfx4	A	C	10: 84,840,857	M204L	probably damaging	Het
Sept1	T	C	7: 127,215,902	D209G	probably damaging	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc26a4	T	C	12: 31,547,970	D159G	probably benign	Het
Sptbn4	C	A	7: 27,417,992	S444I	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stard6	T	A	18: 70,500,526	D201E	possibly damaging	Het
Tas2r114	T	C	6: 131,689,139	T309A	probably damaging	Het
Tdrd6	C	A	17: 43,629,819	A113S	probably damaging	Het
Tigd2	T	G	6: 59,210,509	N120K	probably damaging	Het
Tomm70a	A	G	16: 57,136,734	N224S	probably damaging	Het
Tspo	T	C	15: 83,571,439	V9A	probably benign	Het
Vmn1r21	T	A	6: 57,844,214	I82L	probably benign	Het
Vmn2r103	T	A	17: 19,799,249	C532S	probably damaging	Het
Vmn2r76	T	C	7: 86,230,063	N343S	probably benign	Het
Wdr62	T	C	7: 30,252,360	K665E	probably damaging	Het
Xpc	T	A	6: 91,492,305	N820I	probably damaging	Het
Zfp418	A	G	7: 7,181,874	T279A	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
IGL01328:Klk1b27	APN	7	44055879	missense	probably damaging	1.00
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
X0024:Klk1b27	UTSW	7	44056593	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CAAGCCTGCTGACATCACAG -3'
(R):5'- CCAGAACCACAGTTTTCTCAGC -3'

Sequencing Primer
(F):5'- TGCTGACATCACAGATGCTG -3'
(R):5'- CCCTTCACCTCATTGTAGAAAGGGG -3'

Posted On

2020-01-23