Mutagenetix > Incidental Mutations

Incidental Mutation 'R9104:Klk1b27'

691886

Institutional Source

Beutler Lab

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: 0.053) question?

Stock #

R9104 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44052290-44056712 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 44055886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 159 (W159*)

Ref Sequence

ENSEMBL: ENSMUSP00000078786 (fasta)

Gene Model

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

AlphaFold

Q9JM71

Predicted Effect

probably null
Transcript: ENSMUST00000079859
AA Change: W159*

SMART Domains

Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177
AA Change: W159*

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 43,570,071	N127K	probably damaging	Het
Adgrl3	C	T	5: 81,310,065	A14V	probably benign	Het
Adra2b	A	G	2: 127,363,938	Y125C	probably damaging	Het
Ahnak	T	A	19: 9,010,347	H2998Q	probably benign	Het
B3galt1	C	A	2: 68,118,062	H40Q	probably benign	Het
Best3	T	G	10: 117,024,775	L647V	probably benign	Het
Brip1	T	A	11: 86,187,071	E177V	possibly damaging	Het
C1qtnf6	T	C	15: 78,524,909	D246G	probably benign	Het
C4b	G	A	17: 34,729,259	T1622M	probably benign	Het
Catip	G	A	1: 74,362,523		probably null	Het
Ccdc138	T	C	10: 58,513,160	V176A	probably benign	Het
Ccdc85a	T	C	11: 28,576,879	H243R	probably damaging	Het
Cep19	C	T	16: 32,107,065	T97M	probably damaging	Het
Copz2	G	A	11: 96,856,688	D166N	possibly damaging	Het
Dedd	C	T	1: 171,341,004	L253F	probably damaging	Het
Dennd5a	A	G	7: 109,898,506		probably null	Het
Dpp10	A	T	1: 123,411,755	S348T	probably damaging	Het
Eci3	A	G	13: 34,960,399		probably null	Het
Egr4	A	G	6: 85,513,355	S15P	probably benign	Het
Elp6	A	G	9: 110,305,329	T12A	probably benign	Het
Ewsr1	G	T	11: 5,091,367	P113T	unknown	Het
Exosc10	T	G	4: 148,580,402	L789R	probably benign	Het
Flt4	A	G	11: 49,634,334	Y669C	probably damaging	Het
Foxred2	A	T	15: 77,952,317	F333I	probably damaging	Het
Frs2	G	T	10: 117,074,165	H431N	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,667,034		probably benign	Het
Gm19410	T	C	8: 35,780,467	Y478H	probably damaging	Het
Gm3460	G	A	14: 6,619,543	R150C		Het
Grik4	A	C	9: 42,659,872	L179R	probably damaging	Het
Gsdmc3	C	T	15: 63,859,092		probably null	Het
Il20ra	T	A	10: 19,759,616	M535K	probably benign	Het
Il9	A	G	13: 56,480,588	V96A	possibly damaging	Het
Itgal	A	G	7: 127,311,622	D592G	probably damaging	Het
Mapk9	T	C	11: 49,869,173	Y105H	probably damaging	Het
Muc2	T	C	7: 141,699,655	I118T	probably damaging	Het
N4bp2l2	T	C	5: 150,643,259	N131D	unknown	Het
Nbea	A	C	3: 55,955,388	S1814R	probably benign	Het
Nlrp9c	G	T	7: 26,382,412	L630I	probably benign	Het
Olfr335-ps	T	C	2: 36,301,944	V135A		Het
Olfr809	T	C	10: 129,776,652	V261A	probably damaging	Het
Olfr944	G	A	9: 39,217,535	M59I	probably damaging	Het
Pbx3	C	A	2: 34,224,617	D102Y	probably damaging	Het
Pdia6	G	A	12: 17,270,491	V44I	probably benign	Het
Pkdcc	G	A	17: 83,221,042	R280H	probably damaging	Het
Ppm1h	A	G	10: 122,802,359	E178G	probably benign	Het
Prom1	C	T	5: 44,014,819	S619N	probably benign	Het
Prtg	A	C	9: 72,848,325	I270L	probably damaging	Het
Rfx6	A	T	10: 51,723,010	H487L	probably damaging	Het
Rpl18a	A	C	8: 70,896,144	Y63D	probably benign	Het
Rtl1	T	A	12: 109,594,284	M374L	probably benign	Het
Scaper	A	G	9: 55,912,116	L105P	unknown	Het
Slc16a13	T	A	11: 70,220,704		probably benign	Het
Slc6a13	A	G	6: 121,336,085	K487R	probably benign	Het
Slc7a11	T	A	3: 50,377,633	T459S	probably benign	Het
Smarcad1	A	G	6: 65,098,665	Q708R	probably benign	Het
Stat2	T	C	10: 128,281,242		probably null	Het
Syde1	T	C	10: 78,585,836	H627R	probably benign	Het
Tas2r113	G	A	6: 132,893,153	R48H	probably benign	Het
Tbc1d16	T	C	11: 119,147,800	Y690C	probably damaging	Het
Tchh	A	T	3: 93,447,303	H1350L	unknown	Het
Tex15	T	A	8: 33,570,922	Y127N	possibly damaging	Het
Thsd4	T	C	9: 60,056,896	T438A	possibly damaging	Het
Tubg1	A	G	11: 101,124,273	D216G	probably benign	Het
Tyk2	T	C	9: 21,115,466	D642G	possibly damaging	Het
Uqcc1	C	T	2: 155,901,297		probably null	Het
Uvssa	A	C	5: 33,414,060	K683Q	probably damaging	Het
Vmn1r59	A	T	7: 5,454,167	M198K	probably benign	Het
Zfp772	T	A	7: 7,204,191	H167L	possibly 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
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
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
X0024:Klk1b27	UTSW	7	44056593	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AACGTGAACCCTCTGCTCAG -3'
(R):5'- CACAGTTCTCATTGGGCAGG -3'

Sequencing Primer
(F):5'- TGGGTCAGCAAAAGCTTCC -3'
(R):5'- GAGCTTGATGAACACACACTG -3'

Posted On

2021-12-30