Mutagenetix > Incidental Mutation

Incidental Mutation 'R8511:Klk1b1'

655870

Institutional Source

Beutler Lab

Gene Symbol

Klk1b1

Ensembl Gene

ENSMUSG00000063133

Gene Name

kallikrein 1-related peptidase b1

Synonyms

mK1, tissue kallikrein, Klk1, TK, mGK-1

MMRRC Submission

067888-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8511 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43616175-43620742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43619767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 109 (R109C)

Ref Sequence

ENSEMBL: ENSMUSP00000077879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078835]

AlphaFold

P00755

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078835
AA Change: R109C

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077879
Gene: ENSMUSG00000063133
AA Change: R109C

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	1.25e-98	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous null mice display decreased left ventricular contractility, cardiac output, and stroke volume, a thin left ventricular wall, and impaired vasodilation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	T	C	11: 11,540,056 (GRCm39)	H186R	unknown	Het
6430548M08Rik	A	G	8: 120,879,301 (GRCm39)	N233S	probably benign	Het
Acan	A	G	7: 78,747,683 (GRCm39)	D818G	possibly damaging	Het
Adam22	G	A	5: 8,184,558 (GRCm39)	T478I	probably damaging	Het
Afg2a	A	G	3: 37,490,897 (GRCm39)	M481V	probably damaging	Het
Agmo	T	A	12: 37,294,396 (GRCm39)	*115R	probably null	Het
Ahnak	A	G	19: 8,989,719 (GRCm39)	K3668E	unknown	Het
Aldh6a1	G	A	12: 84,480,745 (GRCm39)	T430I	possibly damaging	Het
Ankrd11	T	C	8: 123,626,468 (GRCm39)	D17G		Het
Apol10b	T	C	15: 77,469,211 (GRCm39)	E322G	probably benign	Het
Apol10b	C	G	15: 77,469,210 (GRCm39)	E322D	probably benign	Het
Apol8	C	T	15: 77,634,273 (GRCm39)	G101E	probably benign	Het
Arhgef26	A	T	3: 62,336,350 (GRCm39)	M630L	probably damaging	Het
Aspm	T	C	1: 139,385,046 (GRCm39)	L230P	probably damaging	Het
Atg101	T	C	15: 101,188,503 (GRCm39)	S203P	probably damaging	Het
Baz2b	T	A	2: 59,732,158 (GRCm39)	T1996S	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cad	A	G	5: 31,233,165 (GRCm39)	K1869R	probably benign	Het
Caskin1	A	T	17: 24,724,910 (GRCm39)	I1233F	probably benign	Het
Ckap5	T	A	2: 91,445,492 (GRCm39)	L1770I	possibly damaging	Het
Clip1	T	C	5: 123,791,969 (GRCm39)	N67S	possibly damaging	Het
Csmd2	A	G	4: 128,262,692 (GRCm39)	N626S		Het
Cuedc2	C	A	19: 46,319,358 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,703,742 (GRCm39)	N1275Y	unknown	Het
Dnm3	A	G	1: 162,113,611 (GRCm39)	V483A	possibly damaging	Het
Dock9	A	T	14: 121,864,801 (GRCm39)	H718Q	probably benign	Het
Dock9	T	C	14: 121,918,847 (GRCm39)	D50G	probably damaging	Het
Egfr	T	G	11: 16,846,949 (GRCm39)	I782S	probably damaging	Het
Elmod1	A	T	9: 53,820,095 (GRCm39)	F298I	probably damaging	Het
Enthd1	T	C	15: 80,358,428 (GRCm39)	Q364R	probably damaging	Het
Fat2	T	A	11: 55,200,063 (GRCm39)	S1004C	probably damaging	Het
Fga	A	T	3: 82,939,064 (GRCm39)	K480*	probably null	Het
Fhod3	A	G	18: 25,265,994 (GRCm39)	T1561A	probably damaging	Het
Foxg1	T	A	12: 49,431,868 (GRCm39)	Y200*	probably null	Het
Foxj2	C	T	6: 122,808,404 (GRCm39)	R115*	probably null	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gpsm2	A	G	3: 108,589,399 (GRCm39)	S580P	probably benign	Het
Hectd1	A	G	12: 51,834,654 (GRCm39)	S870P	probably benign	Het
Hic2	T	A	16: 17,075,874 (GRCm39)	N234K	possibly damaging	Het
Ica1	A	G	6: 8,754,726 (GRCm39)	F15L	probably benign	Het
Immp1l	G	A	2: 105,761,100 (GRCm39)	R3H	probably benign	Het
Iqca1l	T	A	5: 24,750,906 (GRCm39)	H559L	possibly damaging	Het
Jak3	T	A	8: 72,138,194 (GRCm39)	Y882N	probably damaging	Het
Luzp1	A	G	4: 136,268,650 (GRCm39)	D291G	probably damaging	Het
Map3k19	C	T	1: 127,775,155 (GRCm39)	E61K	possibly damaging	Het
Mical3	A	G	6: 121,015,513 (GRCm39)	I175T	possibly damaging	Het
Nectin3	G	A	16: 46,284,363 (GRCm39)	P107L	probably damaging	Het
Or10d5	A	G	9: 39,861,455 (GRCm39)	V204A	probably benign	Het
Pira1	A	G	7: 3,742,347 (GRCm39)	L60P	probably damaging	Het
Polr1a	C	A	6: 71,897,504 (GRCm39)	H207N	probably benign	Het
Prokr2	A	G	2: 132,223,422 (GRCm39)	V40A	probably benign	Het
Prtg	T	C	9: 72,798,156 (GRCm39)		probably null	Het
Ptprs	G	A	17: 56,754,440 (GRCm39)	T200I	probably damaging	Het
Ramp3	C	T	11: 6,626,709 (GRCm39)	R139C	probably benign	Het
Scfd2	A	G	5: 74,372,949 (GRCm39)	V642A	possibly damaging	Het
Scn11a	T	C	9: 119,618,981 (GRCm39)	K787R	probably damaging	Het
Slco3a1	A	G	7: 73,952,990 (GRCm39)	V523A	probably benign	Het
Smo	A	G	6: 29,755,531 (GRCm39)	Y401C	probably damaging	Het
Stmn2	A	G	3: 8,574,615 (GRCm39)		probably benign	Het
Stra6l	G	T	4: 45,885,347 (GRCm39)	G605V	probably benign	Het
Syne2	A	G	12: 76,055,647 (GRCm39)	I4170V	probably benign	Het
Tgm7	T	A	2: 120,924,141 (GRCm39)	I594F	probably damaging	Het
Tle2	T	C	10: 81,423,830 (GRCm39)	L648P	probably damaging	Het
Tmprss2	G	T	16: 97,369,662 (GRCm39)	L371I	possibly damaging	Het
Ttn	T	C	2: 76,579,866 (GRCm39)	R23676G	probably damaging	Het
Tvp23b	T	C	11: 62,774,563 (GRCm39)	I69T	possibly damaging	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	A	T	17: 19,614,443 (GRCm39)	D721V	probably damaging	Het
Zan	A	T	5: 137,445,108 (GRCm39)	V1717E	unknown	Het
Zmiz2	C	T	11: 6,353,190 (GRCm39)	H658Y	probably damaging	Het

Other mutations in Klk1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Klk1b1	APN	7	43,620,593 (GRCm39)	missense	possibly damaging	0.83
IGL02794:Klk1b1	APN	7	43,619,789 (GRCm39)	missense	possibly damaging	0.62
IGL03266:Klk1b1	APN	7	43,619,900 (GRCm39)	missense	probably benign	0.18
R0324:Klk1b1	UTSW	7	43,620,165 (GRCm39)	nonsense	probably null
R0689:Klk1b1	UTSW	7	43,620,143 (GRCm39)	missense	probably benign
R1552:Klk1b1	UTSW	7	43,618,767 (GRCm39)	missense	probably damaging	1.00
R1697:Klk1b1	UTSW	7	43,619,750 (GRCm39)	missense	probably benign	0.01
R1737:Klk1b1	UTSW	7	43,619,783 (GRCm39)	missense	probably benign	0.01
R2060:Klk1b1	UTSW	7	43,620,047 (GRCm39)	missense	possibly damaging	0.73
R2159:Klk1b1	UTSW	7	43,619,857 (GRCm39)	missense	probably damaging	0.97
R2177:Klk1b1	UTSW	7	43,618,695 (GRCm39)	missense	possibly damaging	0.63
R2213:Klk1b1	UTSW	7	43,619,905 (GRCm39)	missense	probably damaging	1.00
R2509:Klk1b1	UTSW	7	43,618,803 (GRCm39)	missense	probably damaging	1.00
R2510:Klk1b1	UTSW	7	43,618,803 (GRCm39)	missense	probably damaging	1.00
R3849:Klk1b1	UTSW	7	43,618,751 (GRCm39)	missense	probably damaging	1.00
R5567:Klk1b1	UTSW	7	43,620,593 (GRCm39)	missense	probably damaging	0.99
R6191:Klk1b1	UTSW	7	43,620,081 (GRCm39)	missense	probably damaging	1.00
R7162:Klk1b1	UTSW	7	43,618,671 (GRCm39)	missense	probably damaging	0.99
R7535:Klk1b1	UTSW	7	43,619,746 (GRCm39)	missense	probably damaging	1.00
R7752:Klk1b1	UTSW	7	43,620,669 (GRCm39)	missense	probably damaging	1.00
R7901:Klk1b1	UTSW	7	43,620,669 (GRCm39)	missense	probably damaging	1.00
R8320:Klk1b1	UTSW	7	43,619,767 (GRCm39)	missense	possibly damaging	0.86
R8379:Klk1b1	UTSW	7	43,619,767 (GRCm39)	missense	possibly damaging	0.86
R8381:Klk1b1	UTSW	7	43,619,767 (GRCm39)	missense	possibly damaging	0.86
R8383:Klk1b1	UTSW	7	43,619,767 (GRCm39)	missense	possibly damaging	0.86
R8867:Klk1b1	UTSW	7	43,619,747 (GRCm39)	missense	probably damaging	0.98
R9089:Klk1b1	UTSW	7	43,620,668 (GRCm39)	missense	possibly damaging	0.77
R9179:Klk1b1	UTSW	7	43,618,715 (GRCm39)	missense	probably damaging	1.00
R9761:Klk1b1	UTSW	7	43,618,739 (GRCm39)	missense	possibly damaging	0.79
X0012:Klk1b1	UTSW	7	43,620,083 (GRCm39)	missense	probably benign	0.05
Z1088:Klk1b1	UTSW	7	43,619,825 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACAGACCTGTCCTAGCTGC -3'
(R):5'- TGCTTGGACCAGACTCACAC -3'

Sequencing Primer
(F):5'- TGAGCAGCTCTCAGGTCTG -3'
(R):5'- CACTTGACAGGTATAATGCTGCC -3'

Posted On

2020-10-20