Mutagenetix > Incidental Mutation

Incidental Mutation 'R2518:Klk1'

266183

Institutional Source

Beutler Lab

Gene Symbol

Klk1

Ensembl Gene

ENSMUSG00000063903

Gene Name

kallikrein 1

Synonyms

Klk6, mGk-6, 0610007D04Rik

MMRRC Submission

040422-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R2518 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

43874784-43879042 bp(+) (GRCm39)

Type of Mutation

splice site (34 bp from exon)

DNA Base Change (assembly)

T to C at 43870161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000073964 (fasta)

Gene Model

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

AlphaFold

P15947

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
Adam18	A	G	8: 25,127,157 (GRCm39)	C480R	probably damaging	Het
Aftph	G	T	11: 20,675,797 (GRCm39)	T604K	probably damaging	Het
Bivm	T	C	1: 44,168,775 (GRCm39)	V279A	probably damaging	Het
C2cd2	G	A	16: 97,723,286 (GRCm39)	T77I	probably benign	Het
Ccdc146	T	C	5: 21,510,526 (GRCm39)	H527R	probably benign	Het
Cd226	A	G	18: 89,225,451 (GRCm39)	N116S	probably benign	Het
Cit	A	G	5: 116,125,105 (GRCm39)	K1612E	probably damaging	Het
Cmtr1	T	A	17: 29,900,954 (GRCm39)	Y663*	probably null	Het
Col3a1	T	A	1: 45,376,672 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,947,468 (GRCm39)	N1095D	probably benign	Het
Cpne1	G	T	2: 155,915,891 (GRCm39)	A433E	probably damaging	Het
Cyfip1	C	T	7: 55,578,032 (GRCm39)	L1181F	probably damaging	Het
Dnajc6	T	A	4: 101,470,127 (GRCm39)	I220N	probably damaging	Het
Duxbl1	G	C	14: 25,988,172 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,335,760 (GRCm39)	R478H	probably benign	Het
Fam91a1	T	A	15: 58,322,449 (GRCm39)	S734T	possibly damaging	Het
Fut10	T	G	8: 31,726,495 (GRCm39)	S417A	probably benign	Het
Gm9945	C	T	11: 53,371,163 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,385,680 (GRCm39)	E934G	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Hdac5	A	G	11: 102,087,962 (GRCm39)	V949A	probably damaging	Het
Hdgfl1	G	T	13: 26,953,732 (GRCm39)	L114I	probably benign	Het
Ifi27l2b	T	A	12: 103,422,083 (GRCm39)	M94L	unknown	Het
Irs2	C	A	8: 11,055,352 (GRCm39)	A1027S	probably benign	Het
Itga2	A	T	13: 115,017,578 (GRCm39)	C111S	probably damaging	Het
Khdrbs1	T	C	4: 129,614,540 (GRCm39)	T338A	probably benign	Het
Kmt2b	T	C	7: 30,275,493 (GRCm39)	N1822S	probably benign	Het
Lrig3	T	C	10: 125,830,310 (GRCm39)	I136T	probably benign	Het
Lyar	T	A	5: 38,385,276 (GRCm39)	D105E	probably benign	Het
Mat1a	T	A	14: 40,844,469 (GRCm39)	D366E	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Neb	T	A	2: 52,139,523 (GRCm39)	K95*	probably null	Het
Nectin4	A	G	1: 171,207,776 (GRCm39)	D56G	probably benign	Het
Nup58	A	T	14: 60,470,109 (GRCm39)	F334Y	probably damaging	Het
Or14a256	A	T	7: 86,265,395 (GRCm39)	F153I	probably benign	Het
Or9i1	A	G	19: 13,839,673 (GRCm39)	N172S	probably damaging	Het
Pde8a	C	A	7: 80,967,170 (GRCm39)	T437K	probably benign	Het
Ppp1r3a	A	T	6: 14,719,377 (GRCm39)	N512K	possibly damaging	Het
Pramel12	A	G	4: 143,144,473 (GRCm39)	Q273R	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,068 (GRCm39)	D330G	probably damaging	Het
Ren1	G	A	1: 133,287,862 (GRCm39)	A399T	probably damaging	Het
Rnft2	G	T	5: 118,332,670 (GRCm39)		probably benign	Het
Septin14	A	T	5: 129,776,099 (GRCm39)	S27T	probably benign	Het
Shld1	T	A	2: 132,592,447 (GRCm39)	S165T	probably damaging	Het
Shox2	T	C	3: 66,885,692 (GRCm39)	K128E	possibly damaging	Het
Skint1	T	C	4: 111,882,678 (GRCm39)	W241R	probably benign	Het
Slc24a4	T	A	12: 102,188,310 (GRCm39)	H134Q	probably benign	Het
Slc25a36	A	T	9: 96,961,124 (GRCm39)	L165Q	possibly damaging	Het
Slc35f1	A	G	10: 52,949,630 (GRCm39)	I240V	probably benign	Het
Slc66a1	A	G	4: 139,029,810 (GRCm39)	F74L	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tarbp2	A	G	15: 102,426,992 (GRCm39)	E3G	possibly damaging	Het
Tas2r130	A	T	6: 131,607,036 (GRCm39)	I253K	probably damaging	Het
Timm44	A	C	8: 4,316,588 (GRCm39)	C319G	probably null	Het
Tjap1	A	T	17: 46,571,021 (GRCm39)	N165K	probably damaging	Het
Tmem63b	A	G	17: 45,977,080 (GRCm39)	I429T	probably benign	Het
Trabd2b	A	T	4: 114,457,100 (GRCm39)	D339V	probably damaging	Het
Tst	T	C	15: 78,290,033 (GRCm39)	M1V	probably null	Het
Ube4a	A	T	9: 44,859,435 (GRCm39)	N335K	probably benign	Het
Vps54	C	T	11: 21,256,394 (GRCm39)	T633M	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp953	A	G	13: 67,496,003 (GRCm39)	Y13H	probably damaging	Het

Other mutations in Klk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Klk1	APN	7	43,878,020 (GRCm39)	missense	probably damaging	0.98
IGL01788:Klk1	APN	7	43,878,407 (GRCm39)	missense	probably benign	0.00
R0011:Klk1	UTSW	7	43,878,959 (GRCm39)	missense	probably benign	0.03
R0184:Klk1	UTSW	7	43,878,173 (GRCm39)	missense	possibly damaging	0.50
R0853:Klk1	UTSW	7	43,870,922 (GRCm39)	unclassified	probably benign
R0925:Klk1	UTSW	7	43,878,240 (GRCm39)	critical splice donor site	probably null
R2044:Klk1	UTSW	7	43,878,458 (GRCm39)	missense	possibly damaging	0.95
R2982:Klk1	UTSW	7	43,878,863 (GRCm39)	missense	probably damaging	1.00
R3962:Klk1	UTSW	7	43,878,973 (GRCm39)	missense	possibly damaging	0.87
R4041:Klk1	UTSW	7	43,878,986 (GRCm39)	missense	probably damaging	1.00
R4067:Klk1	UTSW	7	43,876,968 (GRCm39)	nonsense	probably null
R4385:Klk1	UTSW	7	43,877,993 (GRCm39)	missense	probably benign	0.12
R4901:Klk1	UTSW	7	43,878,139 (GRCm39)	missense	probably damaging	0.99
R5256:Klk1	UTSW	7	43,870,985 (GRCm39)	unclassified	probably benign
R5580:Klk1	UTSW	7	43,878,238 (GRCm39)	missense	probably benign	0.00
R5595:Klk1	UTSW	7	43,878,161 (GRCm39)	splice site	probably null
R6818:Klk1	UTSW	7	43,878,883 (GRCm39)	missense	probably damaging	1.00
R7100:Klk1	UTSW	7	43,878,848 (GRCm39)	missense	probably damaging	1.00
R8351:Klk1	UTSW	7	43,878,410 (GRCm39)	missense	probably benign	0.11
R8451:Klk1	UTSW	7	43,878,410 (GRCm39)	missense	probably benign	0.11
R8458:Klk1	UTSW	7	43,874,933 (GRCm39)	missense	probably damaging	1.00
R8850:Klk1	UTSW	7	43,877,056 (GRCm39)	missense	probably damaging	0.99
R9081:Klk1	UTSW	7	43,874,952 (GRCm39)	unclassified	probably benign
R9786:Klk1	UTSW	7	43,878,104 (GRCm39)	missense	probably damaging	0.97
R9796:Klk1	UTSW	7	43,877,965 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

Posted On

2015-02-05