Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Klk1'

23963

Institutional Source

Beutler Lab

Gene Symbol

Klk1

Ensembl Gene

ENSMUSG00000063903

Gene Name

kallikrein 1

Synonyms

Klk6, mGk-6, 0610007D04Rik

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

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

Stock #

R0184 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

43874784-43879042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43878173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 41 (T41I)

Ref Sequence

ENSEMBL: ENSMUSP00000146057 (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

possibly damaging
Transcript: ENSMUST00000075162
AA Change: T143I

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903
AA Change: T143I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205329

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206144
AA Change: T41I

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000206366

Predicted Effect

probably benign
Transcript: ENSMUST00000206686

Meta Mutation Damage Score

0.2027

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,212,899 (GRCm39)	V131F	probably damaging	Het
Adam28	T	C	14: 68,874,822 (GRCm39)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,244,055 (GRCm39)	E36G	probably damaging	Het
Antxr2	A	G	5: 98,127,889 (GRCm39)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,750,726 (GRCm39)	D46E	unknown	Het
Armc9	T	C	1: 86,126,092 (GRCm39)	L61P	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Calm2	T	C	17: 87,743,269 (GRCm39)	N43S	probably benign	Het
Cct7	A	G	6: 85,438,536 (GRCm39)	D105G	probably null	Het
Cdk18	T	C	1: 132,046,276 (GRCm39)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,396 (GRCm39)	T205A	probably benign	Het
Cfap57	A	T	4: 118,456,209 (GRCm39)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 25,886,432 (GRCm39)	C152*	probably null	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,902,657 (GRCm39)	V905A	probably benign	Het
Eif4h	C	A	5: 134,654,229 (GRCm39)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,207,651 (GRCm39)	S372T	probably benign	Het
Fat2	T	A	11: 55,187,114 (GRCm39)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,316,101 (GRCm39)	N443I	probably benign	Het
Git2	G	A	5: 114,877,098 (GRCm39)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,752,679 (GRCm39)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,824,811 (GRCm39)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,956,752 (GRCm39)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,695,866 (GRCm39)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,772,521 (GRCm39)		probably null	Het
Iars1	T	G	13: 49,875,688 (GRCm39)	S792A	probably benign	Het
Igf1r	A	G	7: 67,875,941 (GRCm39)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,304,027 (GRCm39)		probably benign	Het
Ints13	A	T	6: 146,456,542 (GRCm39)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm39)	S797A	probably benign	Het
Itgad	T	A	7: 127,788,403 (GRCm39)	D405E	probably benign	Het
Itgam	A	T	7: 127,685,230 (GRCm39)	I448F	probably damaging	Het
Mcrip1	T	C	11: 120,435,710 (GRCm39)	M1V	probably null	Het
Mdga1	A	G	17: 30,071,416 (GRCm39)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,549,428 (GRCm39)	R604L	probably benign	Het
Or52p1	T	C	7: 104,267,447 (GRCm39)	V187A	probably damaging	Het
Or5d41	A	T	2: 88,055,124 (GRCm39)	L84*	probably null	Het
Pcdhb7	T	A	18: 37,476,443 (GRCm39)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,893,939 (GRCm39)	D139G	probably damaging	Het
Pkp3	A	C	7: 140,668,280 (GRCm39)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,090,145 (GRCm39)	S524T	probably benign	Het
Pno1	T	C	11: 17,161,127 (GRCm39)	E69G	probably benign	Het
Pold1	C	T	7: 44,191,139 (GRCm39)	V231M	probably benign	Het
Poli	A	G	18: 70,655,802 (GRCm39)	S248P	probably damaging	Het
Ppox	C	T	1: 171,107,126 (GRCm39)	S138N	probably damaging	Het
Psg20	T	C	7: 18,419,901 (GRCm39)	E6G	probably null	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rln1	T	A	19: 29,309,336 (GRCm39)	K148*	probably null	Het
Rnf213	C	T	11: 119,305,347 (GRCm39)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,531,290 (GRCm39)	V904E	probably null	Het
Sf3b2	T	A	19: 5,333,700 (GRCm39)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,584,253 (GRCm39)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,669,649 (GRCm39)	Y973*	probably null	Het
Spink5	G	A	18: 44,136,265 (GRCm39)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,647,322 (GRCm39)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,813,627 (GRCm39)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,736,501 (GRCm39)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,358,701 (GRCm39)	K45R	probably benign	Het
Tirap	A	G	9: 35,100,490 (GRCm39)	S65P	probably benign	Het
Trim25	C	T	11: 88,890,466 (GRCm39)	P51L	probably damaging	Het
Trim61	T	C	8: 65,467,069 (GRCm39)	N64S	probably benign	Het
Twf1	T	A	15: 94,478,948 (GRCm39)		probably null	Het
Ubr4	A	C	4: 139,172,573 (GRCm39)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,469,863 (GRCm39)	M86T	probably damaging	Het
Utrn	T	C	10: 12,543,362 (GRCm39)	D1762G	probably benign	Het
V1rd19	T	A	7: 23,702,632 (GRCm39)	F33I	probably benign	Het
Vmn2r52	T	C	7: 9,893,265 (GRCm39)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,947,139 (GRCm39)	W472*	probably null	Het
Vrk2	C	A	11: 26,500,046 (GRCm39)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,022,435 (GRCm39)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,751,713 (GRCm39)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm39)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	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
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
R2518:Klk1	UTSW	7	43,870,161 (GRCm39)	splice site	probably null
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

PCR Primer
(F):5'- CAACACCGGCTTGTCAGCAAAG -3'
(R):5'- TGCACACAACATGTCATCTGTCACC -3'

Sequencing Primer
(F):5'- GGCTTGTCAGCAAAGCCATC -3'
(R):5'- AGCTTGAGGTTCACACACTG -3'

Posted On

2013-04-16