Mutagenetix > Incidental Mutation

Incidental Mutation 'R0011:Klk1'

98981

Institutional Source

Beutler Lab

Gene Symbol

Klk1

Ensembl Gene

ENSMUSG00000063903

Gene Name

kallikrein 1

Synonyms

Klk6, mGk-6, 0610007D04Rik

MMRRC Submission

038306-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0011 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43874784-43879042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43878959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 149 (T149I)

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

probably benign
Transcript: ENSMUST00000075162
AA Change: T251I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903
AA Change: T251I

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
AA Change: T149I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000206366

Predicted Effect

probably benign
Transcript: ENSMUST00000206686

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (59/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,380,213 (GRCm39)	Y344C	probably damaging	Het
Alox15	A	G	11: 70,240,422 (GRCm39)	V253A	possibly damaging	Het
Ank3	A	G	10: 69,815,281 (GRCm39)		probably benign	Het
Art3	T	A	5: 92,551,471 (GRCm39)	Y17N	probably damaging	Het
Asic3	C	T	5: 24,622,490 (GRCm39)		probably benign	Het
Bach2	G	T	4: 32,244,655 (GRCm39)		probably benign	Het
Brip1	C	A	11: 86,077,824 (GRCm39)	K201N	possibly damaging	Het
Ccdc88a	T	C	11: 29,324,364 (GRCm39)	F6S	probably damaging	Het
Cdcp3	T	A	7: 130,831,722 (GRCm39)	L389Q	probably damaging	Het
Celsr2	A	G	3: 108,320,718 (GRCm39)	I698T	probably benign	Het
Cenpf	A	G	1: 189,382,903 (GRCm39)	S2664P	probably benign	Het
Cfap54	A	T	10: 92,901,087 (GRCm39)	C156S	probably damaging	Het
Cops4	C	A	5: 100,675,847 (GRCm39)	Q28K	probably benign	Het
Cyb5a	T	A	18: 84,895,947 (GRCm39)		probably benign	Het
Diaph3	A	T	14: 87,103,844 (GRCm39)	C847S	probably damaging	Het
Dnah3	T	C	7: 119,618,924 (GRCm39)	K1648R	probably damaging	Het
Dnai7	T	A	6: 145,124,781 (GRCm39)	M515L	probably damaging	Het
Emilin2	C	T	17: 71,580,863 (GRCm39)	G621E	probably benign	Het
Enpp1	T	A	10: 24,545,900 (GRCm39)	K228*	probably null	Het
Epg5	T	C	18: 77,991,698 (GRCm39)	C132R	probably benign	Het
Epha7	G	A	4: 28,962,564 (GRCm39)	D961N	probably benign	Het
G6pc2	C	A	2: 69,056,909 (GRCm39)		probably benign	Het
Gm7361	C	T	5: 26,463,876 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,146,576 (GRCm39)	Y476C	probably damaging	Het
Hnrnpul1	T	G	7: 25,442,340 (GRCm39)		probably benign	Het
Igf2bp1	T	C	11: 95,896,410 (GRCm39)	D17G	probably damaging	Het
Insrr	T	C	3: 87,716,923 (GRCm39)	C688R	possibly damaging	Het
Itgb2l	T	C	16: 96,228,861 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,049,351 (GRCm39)	V322E	probably damaging	Het
Mbd3l1	A	G	9: 18,395,863 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,252,938 (GRCm39)		probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Npy4r	C	T	14: 33,868,680 (GRCm39)	V203M	probably damaging	Het
Or8g52	T	A	9: 39,630,923 (GRCm39)	N133K	probably benign	Het
Pik3r4	C	A	9: 105,521,836 (GRCm39)	T134K	probably benign	Het
Rdh19	T	A	10: 127,692,780 (GRCm39)	L149Q	probably damaging	Het
Sema3e	C	T	5: 14,194,025 (GRCm39)	R85*	probably null	Het
Shtn1	A	G	19: 59,020,650 (GRCm39)	S191P	possibly damaging	Het
Slc39a11	A	T	11: 113,138,659 (GRCm39)	F279L	probably benign	Het
Slc4a1	T	C	11: 102,247,936 (GRCm39)	K353E	possibly damaging	Het
Slc6a18	A	T	13: 73,813,738 (GRCm39)	M515K	possibly damaging	Het
Snapc4	A	G	2: 26,254,825 (GRCm39)	I1225T	probably benign	Het
Spidr	A	T	16: 15,784,467 (GRCm39)	W534R	probably benign	Het
Tmem202	T	A	9: 59,432,084 (GRCm39)	N81I	probably benign	Het
Tnfrsf1b	T	G	4: 144,949,536 (GRCm39)	R297S	possibly damaging	Het
Trim55	A	G	3: 19,725,163 (GRCm39)	T227A	probably benign	Het
Trim58	A	T	11: 58,533,946 (GRCm39)	T167S	probably benign	Het
Trp53i11	A	T	2: 93,029,698 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,640,699 (GRCm39)	H5356R	probably damaging	Het
Tyrp1	C	T	4: 80,759,030 (GRCm39)	T301I	probably damaging	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Wscd1	T	C	11: 71,679,654 (GRCm39)	V509A	probably damaging	Het
Zfp251	A	G	15: 76,738,754 (GRCm39)	V108A	probably benign	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
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
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'- AGGTTCTTGGTTCCCAGTTCAACAC -3'
(R):5'- TCCTTGCCAGAGGAGACTCATGTAG -3'

Sequencing Primer
(F):5'- GAGTCAGGTTGTCTACTAGAATCC -3'
(R):5'- GGAGACTCATGTAGTATCCCTGAC -3'

Posted On

2014-01-10