Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02794:Klk1b1'

359863

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klk1b1

Ensembl Gene

ENSMUSG00000063133

Gene Name

kallikrein 1-related peptidase b1

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

43616175-43620742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43619789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 116 (D116G)

Ref Sequence

ENSEMBL: ENSMUSP00000077879 (fasta)

Gene Model

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

AlphaFold

P00755

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078835
AA Change: D116G

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077879
Gene: ENSMUSG00000063133
AA Change: D116G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206796

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,621,385 (GRCm39)	C1082S	probably benign	Het
Akt2	G	T	7: 27,328,806 (GRCm39)	R176L	probably benign	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Apeh	A	G	9: 107,969,209 (GRCm39)	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,071,653 (GRCm39)	M481V	probably benign	Het
Atraid	G	A	5: 31,210,214 (GRCm39)	S135N	probably damaging	Het
Camta2	C	T	11: 70,566,484 (GRCm39)	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,319,614 (GRCm39)	N545S	probably benign	Het
Cic	A	G	7: 24,985,069 (GRCm39)	D1105G	probably damaging	Het
Crisp1	A	T	17: 40,623,957 (GRCm39)	M4K	unknown	Het
Crnkl1	C	T	2: 145,772,532 (GRCm39)	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,847,847 (GRCm39)	C114S	probably benign	Het
Dsc2	A	T	18: 20,174,788 (GRCm39)	Y496N	probably damaging	Het
Dst	T	C	1: 34,309,910 (GRCm39)	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,994,752 (GRCm39)	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928 (GRCm39)	N767S	probably benign	Het
Gm1527	A	G	3: 28,949,829 (GRCm39)	T30A	unknown	Het
Gorasp2	C	A	2: 70,509,838 (GRCm39)	Y166*	probably null	Het
Gucy2c	T	A	6: 136,690,146 (GRCm39)	Q744L	probably damaging	Het
Heg1	A	T	16: 33,546,992 (GRCm39)	N593I	probably damaging	Het
Ice1	T	A	13: 70,757,278 (GRCm39)	S236C	possibly damaging	Het
Il12b	T	C	11: 44,298,808 (GRCm39)	Y88H	probably damaging	Het
Izumo3	C	T	4: 92,035,200 (GRCm39)	V6I	probably benign	Het
Kcna6	A	G	6: 126,715,515 (GRCm39)	V458A	probably damaging	Het
Kif13b	G	A	14: 65,040,889 (GRCm39)	R1659Q	probably benign	Het
Lama2	T	C	10: 26,917,227 (GRCm39)	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,479,444 (GRCm39)	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,838,709 (GRCm39)	E1083G	probably damaging	Het
Mfsd11	T	A	11: 116,750,177 (GRCm39)	S105T	probably damaging	Het
Mga	T	A	2: 119,776,770 (GRCm39)	I1768N	possibly damaging	Het
Mical3	C	A	6: 120,984,270 (GRCm39)	G202V	probably damaging	Het
Mylk	A	T	16: 34,806,911 (GRCm39)	I1719F	probably benign	Het
Nusap1	T	A	2: 119,460,867 (GRCm39)	F120Y	possibly damaging	Het
Or52e8	T	A	7: 104,624,596 (GRCm39)	M203L	probably benign	Het
Or8b56	T	A	9: 38,739,511 (GRCm39)	C175S	probably damaging	Het
Or8k32	T	C	2: 86,368,492 (GRCm39)	T256A	possibly damaging	Het
Pidd1	T	C	7: 141,023,021 (GRCm39)	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,739,028 (GRCm39)	M671L	probably benign	Het
Ppp5c	A	G	7: 16,740,885 (GRCm39)	V361A	probably benign	Het
Prune2	T	C	19: 17,096,725 (GRCm39)	V743A	probably benign	Het
Siglec1	C	A	2: 130,917,889 (GRCm39)	S996I	possibly damaging	Het
Slc12a7	A	G	13: 73,957,206 (GRCm39)	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,948,668 (GRCm39)	Y537*	probably null	Het
Smarca4	T	A	9: 21,584,638 (GRCm39)		probably benign	Het
Smg6	C	T	11: 74,944,760 (GRCm39)	P1109S	probably damaging	Het
Sorl1	T	A	9: 41,975,070 (GRCm39)	N513Y	probably damaging	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,603,704 (GRCm39)	C17R	probably damaging	Het
Ttc3	T	C	16: 94,268,785 (GRCm39)	C1956R	probably damaging	Het
Vmn1r211	G	T	13: 23,036,379 (GRCm39)	T96N	possibly damaging	Het
Vmn1r211	C	A	13: 23,036,376 (GRCm39)	S97I	probably damaging	Het
Vmn1r211	T	A	13: 23,036,377 (GRCm39)	S97C	probably damaging	Het
Vmn2r66	A	T	7: 84,644,623 (GRCm39)	S596T	probably benign	Het
Zfp609	A	G	9: 65,611,602 (GRCm39)	S454P	possibly 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
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
R8511: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

Posted On

2015-12-18