Mutagenetix > Incidental Mutation

Incidental Mutation 'R8914:Klk1b9'

678816

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

068766-MU

Accession Numbers

Essential gene?

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

Stock #

R8914 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43625485-43629800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43628925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 143 (T143I)

Ref Sequence

ENSEMBL: ENSMUSP00000080133 (fasta)

Gene Model

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

AlphaFold

P15949

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081399
AA Change: T143I

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080133
Gene: ENSMUSG00000059042
AA Change: T143I

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

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	C	T	7: 107,223,922 (GRCm39)	E51K	unknown	Het
Akr1c20	T	C	13: 4,561,215 (GRCm39)	D146G	probably benign	Het
Anapc4	T	A	5: 53,000,843 (GRCm39)	C205*	probably null	Het
Ap3s2	A	G	7: 79,564,911 (GRCm39)	I86T	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp9a	C	T	2: 168,479,420 (GRCm39)		probably null	Het
Bcl11b	C	A	12: 107,883,163 (GRCm39)	R384L	probably damaging	Het
Bltp3a	T	G	17: 28,105,887 (GRCm39)	D804E	possibly damaging	Het
Brca2	T	A	5: 150,465,208 (GRCm39)	D1657E	probably damaging	Het
Cabyr	C	A	18: 12,884,077 (GRCm39)	T188N	probably damaging	Het
Capn5	C	A	7: 97,784,997 (GRCm39)	W159L	probably damaging	Het
Ccdc121rt3	A	T	5: 112,503,087 (GRCm39)	Y206N	probably damaging	Het
Ccnl1	A	T	3: 65,854,080 (GRCm39)	S514T	unknown	Het
Cdk14	G	T	5: 5,086,515 (GRCm39)	H286Q	possibly damaging	Het
Cpsf3	T	A	12: 21,345,112 (GRCm39)	H141Q	probably damaging	Het
Ddx24	A	G	12: 103,390,665 (GRCm39)	S109P	possibly damaging	Het
Dnmt3a	A	T	12: 3,916,192 (GRCm39)	R126*	probably null	Het
Dpys	C	A	15: 39,720,619 (GRCm39)	R47L	probably benign	Het
Dync1li2	A	G	8: 105,152,090 (GRCm39)	V361A	probably benign	Het
Epha7	T	G	4: 28,963,892 (GRCm39)	D962E	probably damaging	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fyb2	T	C	4: 104,857,700 (GRCm39)	S626P	probably benign	Het
Gtpbp1	T	A	15: 79,600,393 (GRCm39)	V442D	probably damaging	Het
Hecw1	T	A	13: 14,422,188 (GRCm39)	I973F	probably damaging	Het
Igkv1-99	A	C	6: 68,519,340 (GRCm39)	K99T		Het
Igkv6-14	C	T	6: 70,412,180 (GRCm39)	V35I	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Mettl15	A	C	2: 108,967,625 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,299,595 (GRCm39)	V1813A		Het
Mrps30	A	G	13: 118,523,755 (GRCm39)	Y6H	possibly damaging	Het
Mthfd1	T	A	12: 76,329,710 (GRCm39)	I176K	probably benign	Het
Nckap5l	C	T	15: 99,323,761 (GRCm39)	G914D	probably damaging	Het
Nemf	C	A	12: 69,363,089 (GRCm39)	E930*	probably null	Het
Nuggc	G	A	14: 65,879,354 (GRCm39)	V705I	probably benign	Het
Omd	A	T	13: 49,745,718 (GRCm39)	K376M	probably damaging	Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4k42	C	A	2: 111,320,004 (GRCm39)	L166F	probably damaging	Het
Or51l14	T	A	7: 103,101,090 (GRCm39)	L182Q	probably damaging	Het
Or5g27	A	G	2: 85,410,056 (GRCm39)	T158A	possibly damaging	Het
Or5p68	A	G	7: 107,945,759 (GRCm39)	V143A	probably benign	Het
Or6c200-ps1	C	A	10: 128,871,372 (GRCm39)	M2I	probably benign	Het
Pi15	A	G	1: 17,691,962 (GRCm39)	Y217C	probably damaging	Het
Pou5f1	T	C	17: 35,821,371 (GRCm39)	S328P	probably benign	Het
Pparg	T	A	6: 115,440,133 (GRCm39)	S236T	probably benign	Het
Prss23	T	C	7: 89,159,854 (GRCm39)	T72A	probably benign	Het
Ptprb	C	A	10: 116,158,567 (GRCm39)	S546*	probably null	Het
Ranbp9	A	G	13: 43,578,560 (GRCm39)	I171T	probably benign	Het
Rap1gap2	A	T	11: 74,326,587 (GRCm39)	L160*	probably null	Het
Rfxap	T	C	3: 54,715,042 (GRCm39)	T19A	probably benign	Het
Sctr	T	A	1: 119,959,386 (GRCm39)	F95I	probably benign	Het
Sf3b3	T	A	8: 111,540,439 (GRCm39)	Q994L	probably benign	Het
Slfn9	A	T	11: 82,872,132 (GRCm39)	I868N	probably damaging	Het
Top3a	A	T	11: 60,631,405 (GRCm39)	C986S	probably damaging	Het
Trak1	T	A	9: 121,272,847 (GRCm39)	L245Q	unknown	Het
Trim27	A	G	13: 21,364,993 (GRCm39)	D110G	possibly damaging	Het
Ubxn2a	T	C	12: 4,930,754 (GRCm39)	D202G	probably benign	Het
Urb1	T	C	16: 90,607,122 (GRCm39)	K36R	probably damaging	Het
Usp34	A	G	11: 23,293,604 (GRCm39)	T252A		Het
Vmn1r73	C	A	7: 11,490,328 (GRCm39)	H49N	probably damaging	Het
Vmn2r117	C	T	17: 23,679,143 (GRCm39)	V694I	probably benign	Het
Vmn2r26	T	C	6: 124,038,983 (GRCm39)	F853L	probably benign	Het
Vmn2r55	A	T	7: 12,405,024 (GRCm39)	H126Q	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
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
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
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'- CTCTAGAGAGAACAAGGTTTCCC -3'
(R):5'- GCTTGAGGTTCACACACTGG -3'

Sequencing Primer
(F):5'- GAGGAACCCTCTGCTCAGCAC -3'
(R):5'- CTTGAGGTTCACACACTGGAGATC -3'

Posted On

2021-08-02