Mutagenetix > Incidental Mutation

Incidental Mutation 'R4723:Klk1b27'

354599

Institutional Source

Beutler Lab

Gene Symbol

Klk1b27

Ensembl Gene

ENSMUSG00000063177

Gene Name

kallikrein 1-related peptidase b27

Synonyms

Klk27, mGK-27, Klk21l

MMRRC Submission

041959-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43701714-43706136 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43705956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 220 (I220F)

Ref Sequence

ENSEMBL: ENSMUSP00000078786 (fasta)

Gene Model

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

AlphaFold

Q9JM71

Predicted Effect

probably damaging
Transcript: ENSMUST00000079859
AA Change: I220F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177
AA Change: I220F

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

94% (77/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,581,644 (GRCm39)	D4800G	probably benign	Het
Akna	T	C	4: 63,305,269 (GRCm39)	D499G	probably benign	Het
Arid1b	A	C	17: 5,387,565 (GRCm39)	I1673L	probably benign	Het
Bcr	T	A	10: 75,011,161 (GRCm39)	M24K	probably benign	Het
Bsn	A	G	9: 107,989,854 (GRCm39)	V1966A	probably benign	Het
Ccdc39	T	C	3: 33,867,227 (GRCm39)	N928S	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc6	G	A	11: 98,799,657 (GRCm39)		probably null	Het
Cfap97d2	A	T	8: 13,785,937 (GRCm39)	N69I	probably damaging	Het
Cmtm1	C	T	8: 105,020,307 (GRCm39)	A371T	probably damaging	Het
Cmtm7	A	C	9: 114,592,459 (GRCm39)	V46G	possibly damaging	Het
Cmtr1	A	G	17: 29,906,131 (GRCm39)		probably null	Het
Col5a3	T	C	9: 20,720,887 (GRCm39)	H149R	unknown	Het
Coro7	T	G	16: 4,449,858 (GRCm39)	Q634P	probably benign	Het
Crym	A	G	7: 119,800,298 (GRCm39)		probably null	Het
Csmd3	A	T	15: 47,532,556 (GRCm39)	F2546L	probably benign	Het
Dmap1	T	C	4: 117,533,236 (GRCm39)	T273A	probably benign	Het
Dnah1	T	C	14: 30,994,899 (GRCm39)	Y2786C	probably damaging	Het
Echs1	A	C	7: 139,690,561 (GRCm39)		probably benign	Het
Edem3	T	A	1: 151,680,449 (GRCm39)	F525I	possibly damaging	Het
Exosc3	T	C	4: 45,319,642 (GRCm39)	I127V	probably benign	Het
Fam193a	A	G	5: 34,578,130 (GRCm39)	D208G	probably benign	Het
Farp2	T	C	1: 93,508,621 (GRCm39)	V773A	probably benign	Het
Gas6	A	G	8: 13,516,848 (GRCm39)	V550A	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm2423	A	G	13: 13,406,961 (GRCm39)		noncoding transcript	Het
Grin1	T	C	2: 25,184,482 (GRCm39)	S911G	probably benign	Het
Hkdc1	T	C	10: 62,236,133 (GRCm39)	I470V	probably benign	Het
Hsdl2	T	A	4: 59,593,270 (GRCm39)		probably benign	Het
Iars2	A	G	1: 185,048,176 (GRCm39)	Y519H	probably damaging	Het
Ikbkb	A	T	8: 23,159,623 (GRCm39)	M455K	probably benign	Het
Keap1	G	T	9: 21,142,706 (GRCm39)	H516Q	probably benign	Het
Knop1	G	A	7: 118,455,087 (GRCm39)		probably benign	Het
Lhcgr	T	C	17: 89,050,030 (GRCm39)	T499A	probably benign	Het
Lrch3	A	T	16: 32,808,854 (GRCm39)		probably null	Het
Lrrc2	G	A	9: 110,799,228 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,648,962 (GRCm39)	L1652P	probably damaging	Het
Mbl1	T	C	14: 40,876,515 (GRCm39)	V71A	possibly damaging	Het
Med8	T	A	4: 118,268,998 (GRCm39)	M1K	probably null	Het
Mfsd2b	A	G	12: 4,918,992 (GRCm39)	L88P	probably benign	Het
Mkrn2	T	A	6: 115,588,811 (GRCm39)	C185S	probably damaging	Het
Myo1d	A	G	11: 80,670,667 (GRCm39)		probably benign	Het
Napg	T	G	18: 63,125,563 (GRCm39)		probably null	Het
Ncor1	A	G	11: 62,269,438 (GRCm39)	M253T	probably benign	Het
Oas3	T	C	5: 120,904,321 (GRCm39)	T518A	unknown	Het
Obox3-ps8	A	G	17: 36,764,036 (GRCm39)		noncoding transcript	Het
Opn5	A	T	17: 42,918,091 (GRCm39)	M57K	probably damaging	Het
Or10a3n	A	T	7: 108,493,028 (GRCm39)	F195L	probably benign	Het
Or13j1	T	C	4: 43,705,785 (GRCm39)	K261R	probably damaging	Het
Or52p1	T	C	7: 104,267,696 (GRCm39)	V270A	possibly damaging	Het
Pde2a	C	G	7: 101,143,825 (GRCm39)	P148R	possibly damaging	Het
Prss56	C	T	1: 87,113,059 (GRCm39)	L158F	possibly damaging	Het
Psmg3	G	A	5: 139,812,125 (GRCm39)		probably benign	Het
Rnase9	C	T	14: 51,276,901 (GRCm39)	G26R	probably damaging	Het
Skint4	T	C	4: 111,975,433 (GRCm39)	V131A	possibly damaging	Het
Slc10a4	T	A	5: 73,169,398 (GRCm39)	V341E	probably damaging	Het
Slc16a14	T	C	1: 84,890,741 (GRCm39)	Y188C	probably damaging	Het
Slc7a1	G	T	5: 148,272,250 (GRCm39)	P476T	probably damaging	Het
Smchd1	A	T	17: 71,743,742 (GRCm39)	C474*	probably null	Het
Smurf1	A	T	5: 144,829,994 (GRCm39)	D336E	probably damaging	Het
Sox30	G	A	11: 45,875,592 (GRCm39)	S448N	probably benign	Het
Spag11a	G	A	8: 19,209,398 (GRCm39)	V63I	possibly damaging	Het
Sprr1b	T	G	3: 92,344,600 (GRCm39)	K92T	probably damaging	Het
Stam2	T	C	2: 52,610,962 (GRCm39)	Y20C	probably benign	Het
Sult2b1	T	A	7: 45,391,489 (GRCm39)	Y97F	probably damaging	Het
Tecpr2	C	T	12: 110,899,410 (GRCm39)	P593S	probably benign	Het
Tek	T	C	4: 94,687,397 (GRCm39)	V170A	possibly damaging	Het
Tiam2	A	G	17: 3,500,592 (GRCm39)	Y891C	probably benign	Het
Tmem220	A	G	11: 66,920,819 (GRCm39)	T75A	possibly damaging	Het
Traf3	T	G	12: 111,228,470 (GRCm39)	D560E	probably damaging	Het
Txlnb	A	G	10: 17,675,015 (GRCm39)	H56R	probably benign	Het
Vmn2r98	A	T	17: 19,286,602 (GRCm39)	N367Y	probably benign	Het
Vnn3	A	G	10: 23,727,589 (GRCm39)	I36M	possibly damaging	Het
Zbtb7a	G	A	10: 80,980,274 (GRCm39)	R156H	probably damaging	Het

Other mutations in Klk1b27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Klk1b27	APN	7	43,705,567 (GRCm39)	critical splice donor site	probably null
IGL01328:Klk1b27	APN	7	43,705,303 (GRCm39)	missense	probably damaging	1.00
IGL01552:Klk1b27	APN	7	43,704,039 (GRCm39)	missense	probably damaging	1.00
IGL01632:Klk1b27	APN	7	43,706,097 (GRCm39)	utr 3 prime	probably benign
R0574:Klk1b27	UTSW	7	43,705,525 (GRCm39)	missense	probably damaging	1.00
R5800:Klk1b27	UTSW	7	43,705,088 (GRCm39)	missense	probably benign	0.21
R6002:Klk1b27	UTSW	7	43,705,114 (GRCm39)	missense	probably benign
R6244:Klk1b27	UTSW	7	43,703,974 (GRCm39)	missense	probably benign	0.05
R6513:Klk1b27	UTSW	7	43,705,169 (GRCm39)	missense	probably benign	0.00
R6584:Klk1b27	UTSW	7	43,703,935 (GRCm39)	missense	possibly damaging	0.84
R6633:Klk1b27	UTSW	7	43,705,234 (GRCm39)	missense	probably damaging	0.98
R7074:Klk1b27	UTSW	7	43,705,977 (GRCm39)	missense	probably damaging	1.00
R7495:Klk1b27	UTSW	7	43,705,500 (GRCm39)	missense	probably benign
R7830:Klk1b27	UTSW	7	43,705,150 (GRCm39)	missense	probably benign	0.00
R8002:Klk1b27	UTSW	7	43,705,445 (GRCm39)	missense	probably benign	0.01
R8969:Klk1b27	UTSW	7	43,703,932 (GRCm39)	missense	probably damaging	0.99
R8994:Klk1b27	UTSW	7	43,705,136 (GRCm39)	missense	probably damaging	1.00
R9020:Klk1b27	UTSW	7	43,705,118 (GRCm39)	missense	probably damaging	1.00
R9104:Klk1b27	UTSW	7	43,705,310 (GRCm39)	nonsense	probably null
X0024:Klk1b27	UTSW	7	43,706,017 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TCCTCATAAGATCTGGGCTCCC -3'
(R):5'- TGCACTCCAGTAGGACAGAG -3'

Sequencing Primer
(F):5'- TCATAAGATCTGGGCTCCCAAGAG -3'
(R):5'- AGAGAATGTCAGACCTTGAACTC -3'

Posted On

2015-10-21