Mutagenetix > Incidental Mutation

Incidental Mutation 'R7149:Klk1b9'

554000

Institutional Source

Beutler Lab

Gene Symbol

Klk1b9

Ensembl Gene

ENSMUSG00000059042

Gene Name

kallikrein 1-related peptidase b9

Synonyms

Egfbp3, Klk9, Egfbp-3, mGk-9

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7149 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43625485-43629800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43628841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 115 (Y115F)

Ref Sequence

ENSEMBL: ENSMUSP00000080133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081399]

AlphaFold

P15949

Predicted Effect

probably benign
Transcript: ENSMUST00000081399
AA Change: Y115F

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080133
Gene: ENSMUSG00000059042
AA Change: Y115F

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	1.54e-98	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,375,451 (GRCm39)	F790V	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Brd8	C	T	18: 34,737,650 (GRCm39)		probably null	Het
Bsn	A	T	9: 107,993,520 (GRCm39)	L744*	probably null	Het
Capn9	A	G	8: 125,332,448 (GRCm39)	D429G	probably benign	Het
CK137956	A	T	4: 127,864,626 (GRCm39)	M1K	probably null	Het
Cnot6	G	A	11: 49,570,970 (GRCm39)	P341S	probably benign	Het
Cracdl	G	A	1: 37,651,352 (GRCm39)	Q1172*	probably null	Het
Dld	T	G	12: 31,385,589 (GRCm39)	I251L	probably benign	Het
Dlg5	T	C	14: 24,240,492 (GRCm39)	K253R	probably benign	Het
Dnmt3a	C	T	12: 3,952,397 (GRCm39)	P696L	probably damaging	Het
Dph1	T	C	11: 75,070,001 (GRCm39)	K409E	probably benign	Het
Dsg2	T	C	18: 20,712,511 (GRCm39)	S172P	probably damaging	Het
Gm1979	T	C	5: 26,206,945 (GRCm39)	N136S	probably benign	Het
Gm2663	A	T	6: 40,974,891 (GRCm39)	L60Q	probably damaging	Het
Hdac10	A	G	15: 89,011,652 (GRCm39)	F144S	probably damaging	Het
Ifi203	T	C	1: 173,756,494 (GRCm39)	T430A	unknown	Het
Itgb2l	T	C	16: 96,234,759 (GRCm39)	D244G	probably damaging	Het
Llcfc1	C	A	6: 41,662,251 (GRCm39)	A85E	possibly damaging	Het
Lrp1b	C	T	2: 40,527,872 (GRCm39)	V4330M		Het
Map3k13	A	G	16: 21,744,187 (GRCm39)	E811G	probably benign	Het
Myl6b	A	G	10: 128,333,068 (GRCm39)		probably null	Het
Myo15a	G	A	11: 60,400,836 (GRCm39)	A2997T	possibly damaging	Het
Nalcn	T	C	14: 123,837,277 (GRCm39)	D29G	probably benign	Het
Nepro	T	A	16: 44,550,078 (GRCm39)		probably null	Het
Nlrp1b	T	A	11: 71,072,482 (GRCm39)	R454*	probably null	Het
Nlrp4a	T	C	7: 26,149,863 (GRCm39)	V490A	probably benign	Het
Or1e1f	G	A	11: 73,856,257 (GRCm39)	M274I	probably benign	Het
Or2l13	T	C	16: 19,306,260 (GRCm39)	V224A	probably damaging	Het
Pde8b	T	G	13: 95,223,349 (GRCm39)	M197L	probably benign	Het
Phldb2	T	A	16: 45,571,895 (GRCm39)	K1166*	probably null	Het
Plekhm1	A	G	11: 103,285,742 (GRCm39)	I231T	probably damaging	Het
Ppp6r2	T	C	15: 89,146,599 (GRCm39)	I199T	probably damaging	Het
Ptch1	G	T	13: 63,659,550 (GRCm39)	H1368N	probably benign	Het
Ptprj	T	A	2: 90,274,790 (GRCm39)	T1191S	possibly damaging	Het
Rapgef1	T	C	2: 29,610,712 (GRCm39)	S748P	probably damaging	Het
Rigi	T	C	4: 40,222,079 (GRCm39)	D445G	possibly damaging	Het
Rnmt	T	C	18: 68,452,222 (GRCm39)	S420P	probably damaging	Het
Sgms2	A	G	3: 131,129,908 (GRCm39)	F160S	possibly damaging	Het
Sim1	G	T	10: 50,785,636 (GRCm39)	R235L	probably damaging	Het
Slco1a7	A	G	6: 141,690,178 (GRCm39)	S192P	probably damaging	Het
Smarcad1	T	A	6: 65,029,716 (GRCm39)	D101E	probably benign	Het
Smarcc2	G	A	10: 128,318,598 (GRCm39)	V627M	probably damaging	Het
Supt20	G	A	3: 54,635,832 (GRCm39)	R241H	unknown	Het
Tagln2	T	A	1: 172,333,386 (GRCm39)	I80N	probably damaging	Het
Tmod2	G	A	9: 75,489,167 (GRCm39)	T226I	possibly damaging	Het
Vmn2r80	A	T	10: 79,030,654 (GRCm39)	I827F	probably benign	Het
Vmn2r96	T	A	17: 18,817,989 (GRCm39)	M714K	possibly damaging	Het
Vps8	C	A	16: 21,278,526 (GRCm39)	D261E	probably damaging	Het
Yeats2	C	A	16: 19,972,939 (GRCm39)	A31E	probably damaging	Het
Zfp451	C	T	1: 33,816,405 (GRCm39)	R515Q	probably damaging	Het
Zfp553	A	G	7: 126,835,605 (GRCm39)	S387G	possibly damaging	Het

Other mutations in Klk1b9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Klk1b9	APN	7	43,627,878 (GRCm39)	missense	probably damaging	1.00
IGL01330:Klk1b9	APN	7	43,627,867 (GRCm39)	nonsense	probably null
IGL01531:Klk1b9	APN	7	43,441,675 (GRCm39)	missense	probably damaging	1.00
IGL02506:Klk1b9	APN	7	43,445,063 (GRCm39)	missense	probably benign	0.33
IGL03329:Klk1b9	APN	7	43,628,838 (GRCm39)	missense	probably benign	0.00
R0206:Klk1b9	UTSW	7	43,628,854 (GRCm39)	missense	possibly damaging	0.70
R0208:Klk1b9	UTSW	7	43,628,854 (GRCm39)	missense	possibly damaging	0.70
R0452:Klk1b9	UTSW	7	43,443,675 (GRCm39)	unclassified	probably benign
R0562:Klk1b9	UTSW	7	43,445,090 (GRCm39)	missense	probably damaging	1.00
R0632:Klk1b9	UTSW	7	43,628,796 (GRCm39)	missense	possibly damaging	0.56
R1171:Klk1b9	UTSW	7	43,443,817 (GRCm39)	missense	possibly damaging	0.82
R1289:Klk1b9	UTSW	7	43,627,848 (GRCm39)	missense	probably benign
R1437:Klk1b9	UTSW	7	43,629,114 (GRCm39)	missense	probably damaging	1.00
R1994:Klk1b9	UTSW	7	43,628,979 (GRCm39)	missense	probably benign	0.04
R4385:Klk1b9	UTSW	7	43,443,699 (GRCm39)	missense	probably benign	0.06
R5006:Klk1b9	UTSW	7	43,628,711 (GRCm39)	nonsense	probably null
R5011:Klk1b9	UTSW	7	43,445,419 (GRCm39)	missense	probably damaging	1.00
R5013:Klk1b9	UTSW	7	43,445,419 (GRCm39)	missense	probably damaging	1.00
R6321:Klk1b9	UTSW	7	43,443,732 (GRCm39)	missense	probably damaging	1.00
R6572:Klk1b9	UTSW	7	43,629,159 (GRCm39)	missense	probably benign
R7652:Klk1b9	UTSW	7	43,445,514 (GRCm39)	missense	probably benign	0.43
R7726:Klk1b9	UTSW	7	43,627,840 (GRCm39)	missense	possibly damaging	0.47
R7911:Klk1b9	UTSW	7	43,629,211 (GRCm39)	missense	probably damaging	1.00
R8769:Klk1b9	UTSW	7	43,629,666 (GRCm39)	missense	probably damaging	1.00
R8878:Klk1b9	UTSW	7	43,443,782 (GRCm39)	missense	possibly damaging	0.92
R8914:Klk1b9	UTSW	7	43,628,925 (GRCm39)	missense	possibly damaging	0.50
R9616:Klk1b9	UTSW	7	43,628,795 (GRCm39)	missense	probably benign	0.02
Z1088:Klk1b9	UTSW	7	43,443,735 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

Sequencing Primer
(F):5'- ATGTGCATGTCTATCTGTCTTCTTG -3'
(R):5'- CTCACACTTGAAAGGTGTAGTGC -3'

Posted On

2019-05-15