Mutagenetix > Incidental Mutation

Incidental Mutation 'R7911:Klk1b9'

610507

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

045960-MU

Accession Numbers

Essential gene?

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

Stock #

R7911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43625485-43629800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43629211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 206 (K206N)

Ref Sequence

ENSEMBL: ENSMUSP00000080133 (fasta)

Gene Model

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

AlphaFold

P15949

Predicted Effect

probably damaging
Transcript: ENSMUST00000081399
AA Change: K206N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080133
Gene: ENSMUSG00000059042
AA Change: K206N

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

Meta Mutation Damage Score

0.2625

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,693,667 (GRCm39)	F95L	probably benign	Het
Abca3	C	G	17: 24,617,478 (GRCm39)	D1058E	probably damaging	Het
Abca7	C	A	10: 79,840,867 (GRCm39)	R919S	probably benign	Het
Abcc2	T	C	19: 43,792,109 (GRCm39)	S297P	probably benign	Het
Abcc8	A	G	7: 45,803,860 (GRCm39)	L438P	probably damaging	Het
Acbd6	C	A	1: 155,562,750 (GRCm39)	D250E	probably damaging	Het
Ankrd31	A	G	13: 97,015,608 (GRCm39)	N1626D	possibly damaging	Het
Arrdc4	C	T	7: 68,394,924 (GRCm39)	E112K	probably benign	Het
B3galnt1	T	A	3: 69,482,574 (GRCm39)	Y229F	probably damaging	Het
Calcrl	A	C	2: 84,181,575 (GRCm39)	I191S	probably damaging	Het
Camkmt	T	A	17: 85,759,866 (GRCm39)		probably null	Het
Card11	A	G	5: 140,867,755 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,668,219 (GRCm39)	L407P	probably damaging	Het
Cfap299	T	A	5: 98,885,567 (GRCm39)	M158K	possibly damaging	Het
Chst15	T	C	7: 131,872,251 (GRCm39)	Q10R	probably benign	Het
Ciao3	A	G	17: 25,999,372 (GRCm39)	E262G	probably benign	Het
Col26a1	A	G	5: 136,771,952 (GRCm39)	L424P	probably damaging	Het
Cryzl2	T	C	1: 157,299,925 (GRCm39)	M308T	probably benign	Het
Ctu2	T	C	8: 123,207,733 (GRCm39)	I403T	probably benign	Het
Ddhd2	A	G	8: 26,238,563 (GRCm39)		probably null	Het
Dmrt1	T	A	19: 25,580,692 (GRCm39)	L368Q	probably benign	Het
Dnah7b	C	A	1: 46,178,838 (GRCm39)	P837Q	probably damaging	Het
Drg2	T	A	11: 60,355,001 (GRCm39)	L283Q	possibly damaging	Het
Dscam	G	A	16: 96,445,122 (GRCm39)	T1523I	probably benign	Het
Farp1	T	C	14: 121,479,818 (GRCm39)	S370P	probably damaging	Het
Fbxl21	G	A	13: 56,684,976 (GRCm39)	G360D	probably damaging	Het
Fbxo39	T	C	11: 72,208,358 (GRCm39)	S237P	probably damaging	Het
Gart	G	T	16: 91,435,672 (GRCm39)	F180L	probably benign	Het
Gng4	T	C	13: 13,999,857 (GRCm39)	L42P	possibly damaging	Het
Heatr9	T	A	11: 83,403,234 (GRCm39)	D435V	probably damaging	Het
Hsh2d	A	G	8: 72,950,648 (GRCm39)	E45G	probably damaging	Het
Ighv1-74	A	G	12: 115,766,410 (GRCm39)	I70T	probably damaging	Het
Igkv1-133	T	A	6: 67,701,924 (GRCm39)	F9L	probably benign	Het
Ipo5	A	G	14: 121,167,051 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,067,774 (GRCm39)	V1578A	probably damaging	Het
Kcnj5	T	C	9: 32,233,517 (GRCm39)	D266G	probably damaging	Het
Macir	T	A	1: 97,573,615 (GRCm39)	H150L	probably damaging	Het
Madd	C	T	2: 90,997,853 (GRCm39)	G725D	probably null	Het
Mki67	A	T	7: 135,306,333 (GRCm39)	H576Q	probably damaging	Het
Mprip	T	A	11: 59,651,681 (GRCm39)	I36N		Het
Mycbp2	T	G	14: 103,437,621 (GRCm39)	E2113D	probably damaging	Het
Noa1	T	C	5: 77,457,677 (GRCm39)	Y76C	probably damaging	Het
Noct	A	G	3: 51,155,069 (GRCm39)		probably benign	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Pcdhga6	C	T	18: 37,842,479 (GRCm39)	S733L	not run	Het
Pdlim7	T	C	13: 55,646,919 (GRCm39)	E389G	probably damaging	Het
Ppip5k1	A	G	2: 121,173,139 (GRCm39)	Y480H	possibly damaging	Het
Prc1	T	A	7: 79,954,120 (GRCm39)	D93E	probably benign	Het
Prdm15	A	G	16: 97,613,792 (GRCm39)	M459T	probably benign	Het
Ptpn13	G	A	5: 103,688,924 (GRCm39)	A906T	probably damaging	Het
Ptpn21	T	C	12: 98,655,101 (GRCm39)	E622G	probably damaging	Het
Pum1	T	C	4: 130,501,788 (GRCm39)	V1104A	probably benign	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Sh3pxd2b	G	A	11: 32,321,533 (GRCm39)	V31I	probably damaging	Het
Skor1	T	C	9: 63,052,328 (GRCm39)	E547G	possibly damaging	Het
Slk	C	T	19: 47,603,668 (GRCm39)	T183I		Het
Sorcs1	C	A	19: 50,132,470 (GRCm39)	D1163Y	unknown	Het
Tex14	G	A	11: 87,424,428 (GRCm39)		probably null	Het
Them5	A	G	3: 94,253,496 (GRCm39)	T169A	possibly damaging	Het
Tlcd4	A	T	3: 121,022,041 (GRCm39)	I119K	probably damaging	Het
Trav5-4	T	C	14: 53,941,908 (GRCm39)	F94L	probably benign	Het
Trpc6	G	C	9: 8,656,705 (GRCm39)	G789R	probably benign	Het
Ttn	A	T	2: 76,537,095 (GRCm39)	C34944*	probably null	Het
Usp53	T	C	3: 122,754,916 (GRCm39)	M180V	probably benign	Het
Vwa3b	T	C	1: 37,193,107 (GRCm39)	S8P	probably damaging	Het
Wdr90	A	T	17: 26,069,723 (GRCm39)	M1205K	probably benign	Het
Zcwpw1	A	T	5: 137,795,032 (GRCm39)	E76V	probably null	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
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
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'- TCTGGTCCAAGCAACACAGC -3'
(R):5'- TTCCAGAGACATGGGGTTGG -3'

Sequencing Primer
(F):5'- CAAGCAACACAGCTGGGTG -3'
(R):5'- GTCCCCTAAACGAAGTCACAGAGG -3'

Posted On

2019-12-20