Mutagenetix > Incidental Mutation

Incidental Mutation 'R8769:Klk1b9'

664291

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

068624-MU

Accession Numbers

Essential gene?

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

Stock #

R8769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43625485-43629800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43629666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 234 (C234S)

Ref Sequence

ENSEMBL: ENSMUSP00000080133 (fasta)

Gene Model

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

AlphaFold

P15949

Predicted Effect

probably damaging
Transcript: ENSMUST00000081399
AA Change: C234S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080133
Gene: ENSMUSG00000059042
AA Change: C234S

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: 99.6%
20x: 98.6%

Validation Efficiency

97% (57/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	T	A	2: 68,446,589 (GRCm39)	N289K	unknown	Het
Adgrl2	T	C	3: 148,522,917 (GRCm39)	I436V		Het
Agbl3	C	T	6: 34,834,549 (GRCm39)	S911L	probably damaging	Het
Ampd2	C	T	3: 107,982,613 (GRCm39)	M714I	probably damaging	Het
Asb6	T	C	2: 30,718,143 (GRCm39)	D19G	possibly damaging	Het
Atosa	C	A	9: 74,933,107 (GRCm39)	L1025I	probably damaging	Het
Bbx	T	C	16: 50,061,227 (GRCm39)	Q298R	probably damaging	Het
Bcl9l	T	A	9: 44,420,263 (GRCm39)	M1223K	probably benign	Het
Ccr3	T	A	9: 123,829,096 (GRCm39)	F144I	possibly damaging	Het
Cfap74	T	A	4: 155,503,105 (GRCm39)	F32L		Het
Clhc1	G	A	11: 29,511,401 (GRCm39)	E293K	probably damaging	Het
Col22a1	A	T	15: 71,878,571 (GRCm39)	D195E	probably benign	Het
Cttnbp2	T	A	6: 18,376,003 (GRCm39)	D1512V	probably damaging	Het
Cul9	T	C	17: 46,832,828 (GRCm39)	T1372A	possibly damaging	Het
Dyrk4	G	T	6: 126,857,208 (GRCm39)	D490E	possibly damaging	Het
E4f1	C	T	17: 24,663,574 (GRCm39)	V626M	probably damaging	Het
Edc3	C	T	9: 57,634,678 (GRCm39)	R232C	probably damaging	Het
Eppk1	A	G	15: 75,994,895 (GRCm39)	I662T	probably benign	Het
G3bp2	C	T	5: 92,231,356 (GRCm39)		probably benign	Het
Grik3	T	C	4: 125,550,166 (GRCm39)	L397P	probably damaging	Het
Hectd4	A	G	5: 121,419,936 (GRCm39)	N627S	possibly damaging	Het
Hecw2	C	T	1: 53,952,507 (GRCm39)	V909I	probably benign	Het
Hsd17b12	A	T	2: 93,945,397 (GRCm39)	M75K	probably damaging	Het
Htt	C	T	5: 34,977,633 (GRCm39)	T809I	probably benign	Het
Itih1	A	G	14: 30,655,381 (GRCm39)	S609P	probably damaging	Het
Lrrc37a	A	G	11: 103,389,536 (GRCm39)	L1963P	probably benign	Het
Lypd3	C	A	7: 24,337,932 (GRCm39)	H99Q	probably damaging	Het
Mdn1	C	A	4: 32,751,390 (GRCm39)	H4593Q	probably damaging	Het
Mroh1	A	G	15: 76,297,126 (GRCm39)	S325G	probably benign	Het
Muc5ac	G	A	7: 141,372,609 (GRCm39)	G3452R	probably damaging	Het
Myrfl	A	T	10: 116,612,696 (GRCm39)	D884E	probably damaging	Het
Nbeal1	T	A	1: 60,274,370 (GRCm39)	H260Q	probably damaging	Het
Ngef	A	G	1: 87,408,883 (GRCm39)	L519P	probably damaging	Het
Or5ac20	A	G	16: 59,104,194 (GRCm39)	L222P	probably damaging	Het
Or5b102	T	A	19: 13,041,307 (GRCm39)	C177*	probably null	Het
Or5w1b	A	T	2: 87,475,960 (GRCm39)	F169Y	probably damaging	Het
Pcca	A	G	14: 122,854,260 (GRCm39)	K184R	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp6r1	A	T	7: 4,644,289 (GRCm39)	V379E	probably benign	Het
Prkca	A	T	11: 107,842,286 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,100,442 (GRCm39)	E1982G	probably damaging	Het
Rad21l	T	C	2: 151,509,838 (GRCm39)	T88A	probably benign	Het
Rpgrip1l	T	C	8: 91,979,212 (GRCm39)		probably benign	Het
Sec62	T	C	3: 30,864,177 (GRCm39)		probably null	Het
Slc22a19	C	T	19: 7,670,086 (GRCm39)	R256Q	possibly damaging	Het
Slc43a2	G	T	11: 75,434,192 (GRCm39)		probably null	Het
Smarcd3	T	C	5: 24,803,792 (GRCm39)	M30V	probably benign	Het
Tes3-ps	T	A	13: 49,647,356 (GRCm39)	D77E	probably benign	Het
Thbs3	G	A	3: 89,131,937 (GRCm39)		probably benign	Het
Trpm2	A	T	10: 77,768,128 (GRCm39)	N790K	probably benign	Het
Ttc13	A	T	8: 125,405,816 (GRCm39)	N492K	possibly damaging	Het
Ttc39c	T	C	18: 12,828,545 (GRCm39)	L235P	probably damaging	Het
Tyms	T	C	5: 30,278,360 (GRCm39)		probably benign	Het
Whamm	A	T	7: 81,234,933 (GRCm39)	K333*	probably null	Het
Ydjc	A	G	16: 16,968,732 (GRCm39)	I224V	probably benign	Het
Zc3hav1	C	T	6: 38,313,416 (GRCm39)	D210N	possibly damaging	Het
Zfp735	G	A	11: 73,581,127 (GRCm39)	E55K	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
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
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'- CCTATTGAACAGAGCTGCCTC -3'
(R):5'- AAATCGTGACCTTAGCTGAGG -3'

Sequencing Primer
(F):5'- TGAACAGAGCTGCCTCTTAGAGTC -3'
(R):5'- ATCGTGACCTTAGCTGAGGGAATC -3'

Posted On

2021-03-08