Mutagenetix > Incidental Mutations

Incidental Mutation 'R8511:Klk1b1'

655870

Institutional Source

Beutler Lab

Gene Symbol

Klk1b1

Ensembl Gene

ENSMUSG00000063133

Gene Name

kallikrein 1-related peptidase b1

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8511 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43966751-43971318 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43970343 bp (GRCm38)

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: 11,590,056	H186R	unknown	Het
4931409K22Rik	T	A	5: 24,545,908	H559L	possibly damaging	Het
6430548M08Rik	A	G	8: 120,152,562	N233S	probably benign	Het
Acan	A	G	7: 79,097,935	D818G	possibly damaging	Het
Adam22	G	A	5: 8,134,558	T478I	probably damaging	Het
Agmo	T	A	12: 37,244,397	*115R	probably null	Het
Ahnak	A	G	19: 9,012,355	K3668E	unknown	Het
Aldh6a1	G	A	12: 84,433,971	T430I	possibly damaging	Het
Ankrd11	T	C	8: 122,899,729	D17G		Het
Apol10b	C	G	15: 77,585,010	E322D	probably benign	Het
Apol10b	T	C	15: 77,585,011	E322G	probably benign	Het
Apol8	C	T	15: 77,750,073	G101E	probably benign	Het
Arhgef26	A	T	3: 62,428,929	M630L	probably damaging	Het
Aspm	T	C	1: 139,457,308	L230P	probably damaging	Het
Atg101	T	C	15: 101,290,622	S203P	probably damaging	Het
Baz2b	T	A	2: 59,901,814	T1996S	probably benign	Het
Brwd1	A	T	16: 96,058,738	M350K	probably damaging	Het
Cad	A	G	5: 31,075,821	K1869R	probably benign	Het
Caskin1	A	T	17: 24,505,936	I1233F	probably benign	Het
Ckap5	T	A	2: 91,615,147	L1770I	possibly damaging	Het
Clip1	T	C	5: 123,653,906	N67S	possibly damaging	Het
Csmd2	A	G	4: 128,368,899	N626S		Het
Cuedc2	C	A	19: 46,330,919		probably null	Het
Dmbt1	A	T	7: 131,102,012	N1275Y	unknown	Het
Dnm3	A	G	1: 162,286,042	V483A	possibly damaging	Het
Dock9	A	T	14: 121,627,389	H718Q	probably benign	Het
Dock9	T	C	14: 121,681,435	D50G	probably damaging	Het
Egfr	T	G	11: 16,896,949	I782S	probably damaging	Het
Elmod1	A	T	9: 53,912,811	F298I	probably damaging	Het
Enthd1	T	C	15: 80,474,227	Q364R	probably damaging	Het
Fat2	T	A	11: 55,309,237	S1004C	probably damaging	Het
Fga	A	T	3: 83,031,757	K480*	probably null	Het
Fhod3	A	G	18: 25,132,937	T1561A	probably damaging	Het
Foxg1	T	A	12: 49,385,085	Y200*	probably null	Het
Foxj2	C	T	6: 122,831,445	R115*	probably null	Het
Ggnbp2	C	T	11: 84,837,989		probably null	Het
Gm15922	A	G	7: 3,739,348	L60P	probably damaging	Het
Gpsm2	A	G	3: 108,682,083	S580P	probably benign	Het
Hectd1	A	G	12: 51,787,871	S870P	probably benign	Het
Hic2	T	A	16: 17,258,010	N234K	possibly damaging	Het
Ica1	A	G	6: 8,754,726	F15L	probably benign	Het
Immp1l	G	A	2: 105,930,755	R3H	probably benign	Het
Jak3	T	A	8: 71,685,550	Y882N	probably damaging	Het
Luzp1	A	G	4: 136,541,339	D291G	probably damaging	Het
Map3k19	C	T	1: 127,847,418	E61K	possibly damaging	Het
Mical3	A	G	6: 121,038,552	I175T	possibly damaging	Het
Nectin3	G	A	16: 46,464,000	P107L	probably damaging	Het
Olfr975	A	G	9: 39,950,159	V204A	probably benign	Het
Polr1a	C	A	6: 71,920,520	H207N	probably benign	Het
Prokr2	A	G	2: 132,381,502	V40A	probably benign	Het
Prtg	T	C	9: 72,890,874		probably null	Het
Ptprs	G	A	17: 56,447,440	T200I	probably damaging	Het
Ramp3	C	T	11: 6,676,709	R139C	probably benign	Het
Scfd2	A	G	5: 74,212,288	V642A	possibly damaging	Het
Scn11a	T	C	9: 119,789,915	K787R	probably damaging	Het
Slco3a1	A	G	7: 74,303,242	V523A	probably benign	Het
Smo	A	G	6: 29,755,532	Y401C	probably damaging	Het
Spata5	A	G	3: 37,436,748	M481V	probably damaging	Het
Stmn2	A	G	3: 8,509,555		probably benign	Het
Stra6l	G	T	4: 45,885,347	G605V	probably benign	Het
Syne2	A	G	12: 76,008,873	I4170V	probably benign	Het
Tgm7	T	A	2: 121,093,660	I594F	probably damaging	Het
Tle2	T	C	10: 81,587,996	L648P	probably damaging	Het
Tmprss2	G	T	16: 97,568,462	L371I	possibly damaging	Het
Ttn	T	C	2: 76,749,522	R23676G	probably damaging	Het
Tvp23b	T	C	11: 62,883,737	I69T	possibly damaging	Het
Vmn2r66	A	T	7: 85,006,818	I330N	probably damaging	Het
Vmn2r99	A	T	17: 19,394,181	D721V	probably damaging	Het
Zan	A	T	5: 137,446,846	V1717E	unknown	Het
Zmiz2	C	T	11: 6,403,190	H658Y	probably damaging	Het

Other mutations in Klk1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Klk1b1	APN	7	43971169	missense	possibly damaging	0.83
IGL02794:Klk1b1	APN	7	43970365	missense	possibly damaging	0.62
IGL03266:Klk1b1	APN	7	43970476	missense	probably benign	0.18
R0324:Klk1b1	UTSW	7	43970741	nonsense	probably null
R0689:Klk1b1	UTSW	7	43970719	missense	probably benign
R1552:Klk1b1	UTSW	7	43969343	missense	probably damaging	1.00
R1697:Klk1b1	UTSW	7	43970326	missense	probably benign	0.01
R1737:Klk1b1	UTSW	7	43970359	missense	probably benign	0.01
R2060:Klk1b1	UTSW	7	43970623	missense	possibly damaging	0.73
R2159:Klk1b1	UTSW	7	43970433	missense	probably damaging	0.97
R2177:Klk1b1	UTSW	7	43969271	missense	possibly damaging	0.63
R2213:Klk1b1	UTSW	7	43970481	missense	probably damaging	1.00
R2509:Klk1b1	UTSW	7	43969379	missense	probably damaging	1.00
R2510:Klk1b1	UTSW	7	43969379	missense	probably damaging	1.00
R3849:Klk1b1	UTSW	7	43969327	missense	probably damaging	1.00
R5567:Klk1b1	UTSW	7	43971169	missense	probably damaging	0.99
R6191:Klk1b1	UTSW	7	43970657	missense	probably damaging	1.00
R7162:Klk1b1	UTSW	7	43969247	missense	probably damaging	0.99
R7535:Klk1b1	UTSW	7	43970322	missense	probably damaging	1.00
R7752:Klk1b1	UTSW	7	43971245	missense	probably damaging	1.00
R7901:Klk1b1	UTSW	7	43971245	missense	probably damaging	1.00
R8320:Klk1b1	UTSW	7	43970343	missense	possibly damaging	0.86
R8379:Klk1b1	UTSW	7	43970343	missense	possibly damaging	0.86
R8381:Klk1b1	UTSW	7	43970343	missense	possibly damaging	0.86
R8383:Klk1b1	UTSW	7	43970343	missense	possibly damaging	0.86
R8867:Klk1b1	UTSW	7	43970323	missense	probably damaging	0.98
R9089:Klk1b1	UTSW	7	43971244	missense	possibly damaging	0.77
R9179:Klk1b1	UTSW	7	43969291	missense	probably damaging	1.00
X0012:Klk1b1	UTSW	7	43970659	missense	probably benign	0.05
Z1088:Klk1b1	UTSW	7	43970401	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