Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01571:Klk1'

93287

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klk1

Ensembl Gene

ENSMUSG00000063903

Gene Name

kallikrein 1

Synonyms

Klk6, mGk-6

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

44225360-44229618 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44228596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 92 (V92A)

Ref Sequence

ENSEMBL: ENSMUSP00000074659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037220] [ENSMUST00000075162] [ENSMUST00000206144] [ENSMUST00000206366] [ENSMUST00000206686]

AlphaFold

P15947

Predicted Effect

probably benign
Transcript: ENSMUST00000037220

SMART Domains

Protein: ENSMUSP00000048665
Gene: ENSMUSG00000038782

Domain	Start	End	E-Value	Type
transmembrane domain	35	52	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000072123

SMART Domains

Protein: ENSMUSP00000071992
Gene: ENSMUSG00000062073

Domain	Start	End	E-Value	Type
transmembrane domain	32	49	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075162
AA Change: V92A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903
AA Change: V92A

Domain	Start	End	E-Value	Type
Tryp_SPc	24	253	7.26e-104	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205329

Predicted Effect

probably benign
Transcript: ENSMUST00000206144

Predicted Effect

probably benign
Transcript: ENSMUST00000206366

Predicted Effect

probably benign
Transcript: ENSMUST00000206686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206890

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. Mice lacking the encoded protein are unable to generate significant levels of kinins in most tissues, develop cardiovascular abnormalities and exhibit hypercalciuria of renal origin. This gene is located in a cluster of several related kallikrein genes on chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Cep164	T	C	9: 45,794,338	Q127R	possibly damaging	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Chd5	T	A	4: 152,384,115		probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Cyp4a12b	A	G	4: 115,438,157	I487V	probably benign	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Lypla1	T	C	1: 4,844,988	I222T	probably benign	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psg21	T	C	7: 18,654,825	D114G	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Pygb	T	C	2: 150,830,473	S831P	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Sgo2a	T	C	1: 58,017,974	S1106P	probably damaging	Het
Slc5a5	G	A	8: 70,891,332		probably benign	Het
Tekt4	A	G	17: 25,476,384	D397G	probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	Het

Other mutations in Klk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01788:Klk1	APN	7	44228983	missense	probably benign	0.00
R0011:Klk1	UTSW	7	44229535	missense	probably benign	0.03
R0184:Klk1	UTSW	7	44228749	missense	possibly damaging	0.50
R0853:Klk1	UTSW	7	44221498	unclassified	probably benign
R0925:Klk1	UTSW	7	44228816	critical splice donor site	probably null
R2044:Klk1	UTSW	7	44229034	missense	possibly damaging	0.95
R2518:Klk1	UTSW	7	44220737	splice site	probably null
R2982:Klk1	UTSW	7	44229439	missense	probably damaging	1.00
R3962:Klk1	UTSW	7	44229549	missense	possibly damaging	0.87
R4041:Klk1	UTSW	7	44229562	missense	probably damaging	1.00
R4067:Klk1	UTSW	7	44227544	nonsense	probably null
R4385:Klk1	UTSW	7	44228569	missense	probably benign	0.12
R4901:Klk1	UTSW	7	44228715	missense	probably damaging	0.99
R5256:Klk1	UTSW	7	44221561	unclassified	probably benign
R5580:Klk1	UTSW	7	44228814	missense	probably benign	0.00
R5595:Klk1	UTSW	7	44228737	splice site	probably null
R6818:Klk1	UTSW	7	44229459	missense	probably damaging	1.00
R7100:Klk1	UTSW	7	44229424	missense	probably damaging	1.00
R8351:Klk1	UTSW	7	44228986	missense	probably benign	0.11
R8451:Klk1	UTSW	7	44228986	missense	probably benign	0.11
R8458:Klk1	UTSW	7	44225509	missense	probably damaging	1.00
R8850:Klk1	UTSW	7	44227632	missense	probably damaging	0.99

Posted On

2013-12-09