Mutagenetix > Incidental Mutations

Incidental Mutation 'R2518:Klk1'

266183

Institutional Source

Beutler Lab

Gene Symbol

Klk1

Ensembl Gene

ENSMUSG00000063903

Gene Name

kallikrein 1

Synonyms

Klk6, mGk-6

MMRRC Submission

040422-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2518 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

44225360-44229618 bp(+) (GRCm38)

Type of Mutation

splice site (34 bp from exon)

DNA Base Change (assembly)

T to C at 44220737 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000073964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074359] [ENSMUST00000075162] [ENSMUST00000206144]

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 null
Transcript: ENSMUST00000074359

SMART Domains

Protein: ENSMUSP00000073964
Gene: ENSMUSG00000066512

Domain	Start	End	E-Value	Type
Tryp_SPc	24	253	1.49e-100	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075162

SMART Domains

Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903

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

noncoding transcript
Transcript: ENSMUST00000206890

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	T	A	2: 132,750,527	S165T	probably damaging	Het
Adam18	A	G	8: 24,637,141	C480R	probably damaging	Het
Aftph	G	T	11: 20,725,797	T604K	probably damaging	Het
Bivm	T	C	1: 44,129,615	V279A	probably damaging	Het
C2cd2	G	A	16: 97,922,086	T77I	probably benign	Het
Ccdc146	T	C	5: 21,305,528	H527R	probably benign	Het
Cd226	A	G	18: 89,207,327	N116S	probably benign	Het
Cit	A	G	5: 115,987,046	K1612E	probably damaging	Het
Cmtr1	T	A	17: 29,681,980	Y663*	probably null	Het
Col3a1	T	A	1: 45,337,512		probably benign	Het
Copa	A	G	1: 172,119,901	N1095D	probably benign	Het
Cpne1	G	T	2: 156,073,971	A433E	probably damaging	Het
Cyfip1	C	T	7: 55,928,284	L1181F	probably damaging	Het
Dnajc6	T	A	4: 101,612,930	I220N	probably damaging	Het
Duxbl1	G	C	14: 25,987,748		probably benign	Het
Fam135b	C	T	15: 71,463,911	R478H	probably benign	Het
Fam91a1	T	A	15: 58,450,600	S734T	possibly damaging	Het
Fut10	T	G	8: 31,236,467	S417A	probably benign	Het
Gm9945	C	T	11: 53,480,336		probably benign	Het
Golga4	A	G	9: 118,556,612	E934G	probably damaging	Het
Gpat2	G	A	2: 127,428,291	V75M	probably damaging	Het
Hdac5	A	G	11: 102,197,136	V949A	probably damaging	Het
Hdgfl1	G	T	13: 26,769,749	L114I	probably benign	Het
Ifi27l2b	T	A	12: 103,455,824	M94L	unknown	Het
Irs2	C	A	8: 11,005,352	A1027S	probably benign	Het
Itga2	A	T	13: 114,881,042	C111S	probably damaging	Het
Khdrbs1	T	C	4: 129,720,747	T338A	probably benign	Het
Kmt2b	T	C	7: 30,576,068	N1822S	probably benign	Het
Lrig3	T	C	10: 125,994,441	I136T	probably benign	Het
Lyar	T	A	5: 38,227,932	D105E	probably benign	Het
Mat1a	T	A	14: 41,122,512	D366E	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Naip1	A	T	13: 100,423,219	D1092E	probably benign	Het
Neb	T	A	2: 52,249,511	K95*	probably null	Het
Nectin4	A	G	1: 171,380,208	D56G	probably benign	Het
Nupl1	A	T	14: 60,232,660	F334Y	probably damaging	Het
Olfr1502	A	G	19: 13,862,309	N172S	probably damaging	Het
Olfr294	A	T	7: 86,616,187	F153I	probably benign	Het
Pde8a	C	A	7: 81,317,422	T437K	probably benign	Het
Ppp1r3a	A	T	6: 14,719,378	N512K	possibly damaging	Het
Pqlc2	A	G	4: 139,302,499	F74L	probably damaging	Het
Pramef8	A	G	4: 143,417,903	Q273R	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,067	D330G	probably damaging	Het
Ren1	G	A	1: 133,360,124	A399T	probably damaging	Het
Rnft2	G	T	5: 118,194,605		probably benign	Het
Sept14	A	T	5: 129,699,035	S27T	probably benign	Het
Shox2	T	C	3: 66,978,359	K128E	possibly damaging	Het
Skint1	T	C	4: 112,025,481	W241R	probably benign	Het
Slc24a4	T	A	12: 102,222,051	H134Q	probably benign	Het
Slc25a36	A	T	9: 97,079,071	L165Q	possibly damaging	Het
Slc35f1	A	G	10: 53,073,534	I240V	probably benign	Het
Tab2	G	A	10: 7,907,481	P679L	probably damaging	Het
Tarbp2	A	G	15: 102,518,557	E3G	possibly damaging	Het
Tas2r130	A	T	6: 131,630,073	I253K	probably damaging	Het
Timm44	A	C	8: 4,266,588	C319G	probably null	Het
Tjap1	A	T	17: 46,260,095	N165K	probably damaging	Het
Tmem63b	A	G	17: 45,666,154	I429T	probably benign	Het
Trabd2b	A	T	4: 114,599,903	D339V	probably damaging	Het
Tst	T	C	15: 78,405,833	M1V	probably null	Het
Ube4a	A	T	9: 44,948,137	N335K	probably benign	Het
Vps54	C	T	11: 21,306,394	T633M	probably benign	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp953	A	G	13: 67,347,939	Y13H	probably damaging	Het

Other mutations in Klk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Klk1	APN	7	44228596	missense	probably damaging	0.98
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
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

Predicted Primers

Posted On

2015-02-05