Mutagenetix > Incidental Mutation

Incidental Mutation 'R4385:Klk1b9'

326168

Institutional Source

Beutler Lab

Gene Symbol

Klk1b9

Ensembl Gene

ENSMUSG00000059042

Gene Name

kallikrein 1-related peptidase b9

Synonyms

Egfbp3, Klk9, Egfbp-3, mGk-9

MMRRC Submission

041124-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43625485-43629800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43443699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 71 (V71A)

Ref Sequence

ENSEMBL: ENSMUSP00000005891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005891] [ENSMUST00000085461] [ENSMUST00000205537]

AlphaFold

P15949

Predicted Effect

probably benign
Transcript: ENSMUST00000005891
AA Change: V71A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000005891
Gene: ENSMUSG00000047884
AA Change: V71A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Tryp_SPc	22	244	1.66e-89	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085461

SMART Domains

Protein: ENSMUSP00000082588
Gene: ENSMUSG00000064023

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	32	252	8.87e-99	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205527

Predicted Effect

probably benign
Transcript: ENSMUST00000205537

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,259,065 (GRCm39)	I426N	probably damaging	Het
Abcc6	C	T	7: 45,644,752 (GRCm39)	V808I	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
Apbb1	A	G	7: 105,216,483 (GRCm39)	S140P	probably benign	Het
Arhgef10	T	A	8: 14,980,157 (GRCm39)	C132*	probably null	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Calr3	T	A	8: 73,182,008 (GRCm39)	D120V	probably damaging	Het
Cdc27	T	C	11: 104,425,640 (GRCm39)	R59G	probably benign	Het
Cfap43	T	C	19: 47,785,568 (GRCm39)	R441G	probably benign	Het
Chsy3	A	G	18: 59,309,424 (GRCm39)	I226V	probably benign	Het
Chsy3	A	T	18: 59,312,546 (GRCm39)	T340S	possibly damaging	Het
Cnot10	T	A	9: 114,460,949 (GRCm39)	K74*	probably null	Het
Col5a1	A	C	2: 27,914,791 (GRCm39)	M136L	probably damaging	Het
Coro2a	A	T	4: 46,541,961 (GRCm39)	I387N	possibly damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Cyfip2	C	T	11: 46,133,230 (GRCm39)	M823I	probably benign	Het
Dcbld2	A	G	16: 58,283,429 (GRCm39)	K555E	probably damaging	Het
Dpep3	A	G	8: 106,704,818 (GRCm39)	M164T	probably damaging	Het
Flg	C	A	3: 93,200,316 (GRCm39)		probably benign	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Ift172	T	C	5: 31,444,311 (GRCm39)	D37G	probably damaging	Het
Iglc1	A	T	16: 18,880,508 (GRCm39)	C104*	probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk1	A	T	7: 43,877,993 (GRCm39)	D83V	probably benign	Het
Loxhd1	A	G	18: 77,460,607 (GRCm39)	K806R	probably damaging	Het
Metap1	T	C	3: 138,180,824 (GRCm39)	E119G	possibly damaging	Het
Nbea	T	C	3: 55,908,059 (GRCm39)	H1351R	possibly damaging	Het
Nim1k	T	C	13: 120,174,162 (GRCm39)	D244G	probably damaging	Het
Npas1	C	T	7: 16,193,110 (GRCm39)		probably null	Het
Pcdh15	A	G	10: 74,386,322 (GRCm39)	D1136G	probably damaging	Het
Pde6b	A	G	5: 108,575,508 (GRCm39)	I657V	probably benign	Het
Pi4ka	A	G	16: 17,204,129 (GRCm39)	V55A	probably benign	Het
Plxnb2	T	C	15: 89,044,826 (GRCm39)	N1173S	probably damaging	Het
Pramel23	C	T	4: 143,424,584 (GRCm39)		probably null	Het
Ptpn13	T	C	5: 103,681,273 (GRCm39)		probably null	Het
Ptprb	A	G	10: 116,182,772 (GRCm39)	S1483G	probably benign	Het
Rbm48	G	A	5: 3,640,300 (GRCm39)	P360S	probably damaging	Het
Rbp3	G	C	14: 33,677,253 (GRCm39)	E400D	probably benign	Het
Resf1	T	C	6: 149,227,706 (GRCm39)	S251P	possibly damaging	Het
Rfpl4	A	G	7: 5,113,669 (GRCm39)	S165P	possibly damaging	Het
Scn9a	A	T	2: 66,314,900 (GRCm39)	L1595Q	probably damaging	Het
Scp2	A	T	4: 107,928,547 (GRCm39)	V381D	probably damaging	Het
Sec24c	G	A	14: 20,740,841 (GRCm39)	V620M	probably damaging	Het
Slc30a9	T	C	5: 67,473,110 (GRCm39)	Y65H	probably damaging	Het
Sorcs1	A	G	19: 50,178,599 (GRCm39)	I841T	probably benign	Het
Sp140l1	C	T	1: 85,087,057 (GRCm39)		probably null	Het
Spag7	C	T	11: 70,560,029 (GRCm39)	A27T	probably damaging	Het
St6galnac6	A	G	2: 32,505,036 (GRCm39)	I181V	possibly damaging	Het
Tm9sf3	T	C	19: 41,236,372 (GRCm39)	M130V	probably damaging	Het
Ugt3a1	C	T	15: 9,306,565 (GRCm39)	S238F	probably benign	Het
Usp9y	G	A	Y: 1,304,756 (GRCm39)	L2363F	probably damaging	Het
Vmn1r34	T	A	6: 66,614,123 (GRCm39)	H205L	probably damaging	Het
Vps50	C	A	6: 3,516,694 (GRCm39)	Q59K	probably benign	Het
Zeb2	T	A	2: 44,913,074 (GRCm39)	D39V	probably damaging	Het
Zfp146	G	A	7: 29,861,847 (GRCm39)	T65I	probably benign	Het
Zfp36	T	C	7: 28,077,116 (GRCm39)	D264G	probably benign	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
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
R7149:Klk1b9	UTSW	7	43,628,841 (GRCm39)	missense	probably benign	0.30
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'- GAACCTATGTCACCAGTGGG -3'
(R):5'- TTGGAGCTTGACACACTGCC -3'

Sequencing Primer
(F):5'- GTCACCAGTGGGGCCCC -3'
(R):5'- TGCCCCAGCCAGAGATAAGG -3'

Posted On

2015-07-06