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

mGK-27, Klk27, Klk21l

MMRRC Submission

041959-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44052290-44056712 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44056532 bp (GRCm38)

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
4932443I19Rik	A	T	8: 13,735,937	N69I	probably damaging	Het
Adgrv1	T	C	13: 81,433,525	D4800G	probably benign	Het
Akna	T	C	4: 63,387,032	D499G	probably benign	Het
Arid1b	A	C	17: 5,337,290	I1673L	probably benign	Het
Bcr	T	A	10: 75,175,329	M24K	probably benign	Het
Bsn	A	G	9: 108,112,655	V1966A	probably benign	Het
Ccdc39	T	C	3: 33,813,078	N928S	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc6	G	A	11: 98,908,831		probably null	Het
Cmtm1	C	T	8: 104,293,675	A371T	probably damaging	Het
Cmtm7	A	C	9: 114,763,391	V46G	possibly damaging	Het
Cmtr1	A	G	17: 29,687,157		probably null	Het
Col5a3	T	C	9: 20,809,591	H149R	unknown	Het
Coro7	T	G	16: 4,631,994	Q634P	probably benign	Het
Crym	A	G	7: 120,201,075		probably null	Het
Csmd3	A	T	15: 47,669,160	F2546L	probably benign	Het
Dmap1	T	C	4: 117,676,039	T273A	probably benign	Het
Dnah1	T	C	14: 31,272,942	Y2786C	probably damaging	Het
Echs1	A	C	7: 140,110,648		probably benign	Het
Edem3	T	A	1: 151,804,698	F525I	possibly damaging	Het
Exosc3	T	C	4: 45,319,642	I127V	probably benign	Het
Fam193a	A	G	5: 34,420,786	D208G	probably benign	Het
Farp2	T	C	1: 93,580,899	V773A	probably benign	Het
Gas6	A	G	8: 13,466,848	V550A	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm2423	A	G	13: 13,232,376		noncoding transcript	Het
Grin1	T	C	2: 25,294,470	S911G	probably benign	Het
Hkdc1	T	C	10: 62,400,354	I470V	probably benign	Het
Hsdl2	T	A	4: 59,593,270		probably benign	Het
Iars2	A	G	1: 185,315,979	Y519H	probably damaging	Het
Ikbkb	A	T	8: 22,669,607	M455K	probably benign	Het
Keap1	G	T	9: 21,231,410	H516Q	probably benign	Het
Knop1	G	A	7: 118,855,864		probably benign	Het
Lhcgr	T	C	17: 88,742,602	T499A	probably benign	Het
Lrch3	A	T	16: 32,988,484		probably null	Het
Lrrc2	G	A	9: 110,970,160		probably null	Het
Lrrk2	T	C	15: 91,764,759	L1652P	probably damaging	Het
Mbl1	T	C	14: 41,154,558	V71A	possibly damaging	Het
Med8	T	A	4: 118,411,801	M1K	probably null	Het
Mfsd2b	A	G	12: 4,868,992	L88P	probably benign	Het
Mkrn2	T	A	6: 115,611,850	C185S	probably damaging	Het
Myo1d	A	G	11: 80,779,841		probably benign	Het
Napg	T	G	18: 62,992,492		probably null	Het
Ncor1	A	G	11: 62,378,612	M253T	probably benign	Het
Oas3	T	C	5: 120,766,256	T518A	unknown	Het
Obox3-ps8	A	G	17: 36,453,144		noncoding transcript	Het
Olfr519	A	T	7: 108,893,821	F195L	probably benign	Het
Olfr656	T	C	7: 104,618,489	V270A	possibly damaging	Het
Olfr71	T	C	4: 43,705,785	K261R	probably damaging	Het
Opn5	A	T	17: 42,607,200	M57K	probably damaging	Het
Pde2a	C	G	7: 101,494,618	P148R	possibly damaging	Het
Prss56	C	T	1: 87,185,337	L158F	possibly damaging	Het
Psmg3	G	A	5: 139,826,370		probably benign	Het
Rnase9	C	T	14: 51,039,444	G26R	probably damaging	Het
Skint4	T	C	4: 112,118,236	V131A	possibly damaging	Het
Slc10a4	T	A	5: 73,012,055	V341E	probably damaging	Het
Slc16a14	T	C	1: 84,913,020	Y188C	probably damaging	Het
Slc7a1	G	T	5: 148,335,440	P476T	probably damaging	Het
Smchd1	A	T	17: 71,436,747	C474*	probably null	Het
Smurf1	A	T	5: 144,893,184	D336E	probably damaging	Het
Sox30	G	A	11: 45,984,765	S448N	probably benign	Het
Spag11a	G	A	8: 19,159,382	V63I	possibly damaging	Het
Sprr1b	T	G	3: 92,437,293	K92T	probably damaging	Het
Stam2	T	C	2: 52,720,950	Y20C	probably benign	Het
Sult2b1	T	A	7: 45,742,065	Y97F	probably damaging	Het
Tecpr2	C	T	12: 110,932,976	P593S	probably benign	Het
Tek	T	C	4: 94,799,160	V170A	possibly damaging	Het
Tiam2	A	G	17: 3,450,317	Y891C	probably benign	Het
Tmem220	A	G	11: 67,029,993	T75A	possibly damaging	Het
Traf3	T	G	12: 111,262,036	D560E	probably damaging	Het
Txlnb	A	G	10: 17,799,267	H56R	probably benign	Het
Vmn2r98	A	T	17: 19,066,340	N367Y	probably benign	Het
Vnn3	A	G	10: 23,851,691	I36M	possibly damaging	Het
Zbtb7a	G	A	10: 81,144,440	R156H	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
IGL01632:Klk1b27	APN	7	44056673	utr 3 prime	probably benign
R0574:Klk1b27	UTSW	7	44056101	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
R8969:Klk1b27	UTSW	7	44054508	missense	probably damaging	0.99
R8994:Klk1b27	UTSW	7	44055712	missense	probably damaging	1.00
R9020:Klk1b27	UTSW	7	44055694	missense	probably damaging	1.00
R9104:Klk1b27	UTSW	7	44055886	nonsense	probably null
X0024:Klk1b27	UTSW	7	44056593	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