Mutagenetix > Incidental Mutation

Incidental Mutation 'R8281:Klk1b16'

638199

Institutional Source

Beutler Lab

Gene Symbol

Klk1b16

Ensembl Gene

ENSMUSG00000038968

Gene Name

kallikrein 1-related peptidase b16

Synonyms

mGk-16, Klk16

MMRRC Submission

067704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8281 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43786191-43791034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43790971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 258 (M258V)

Ref Sequence

ENSEMBL: ENSMUSP00000005933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005933]

AlphaFold

P04071

Predicted Effect

probably benign
Transcript: ENSMUST00000005933
AA Change: M258V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000005933
Gene: ENSMUSG00000038968
AA Change: M258V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	7.64e-80	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (44/45)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	G	A	14: 68,745,334 (GRCm39)	T630I	possibly damaging	Het
Adgrf3	T	C	5: 30,402,301 (GRCm39)	S576G	possibly damaging	Het
Asxl1	A	G	2: 153,241,321 (GRCm39)	R625G	probably damaging	Het
Atp1a1	A	G	3: 101,486,940 (GRCm39)	F916L	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Ccdc168	T	G	1: 44,095,698 (GRCm39)	D1800A	possibly damaging	Het
Chd9	A	G	8: 91,763,225 (GRCm39)	D2350G	probably damaging	Het
Cic	G	A	7: 24,971,249 (GRCm39)	V327I	probably benign	Het
Crym	T	A	7: 119,801,250 (GRCm39)		probably benign	Het
Cyp3a13	G	C	5: 137,892,559 (GRCm39)	S495C	probably benign	Het
D5Ertd579e	A	T	5: 36,770,664 (GRCm39)	F137I		Het
Dip2a	T	C	10: 76,112,438 (GRCm39)	T1087A	probably damaging	Het
Drc7	G	A	8: 95,788,805 (GRCm39)	E288K	possibly damaging	Het
Epb41l4a	T	C	18: 34,011,998 (GRCm39)	E174G	probably damaging	Het
Ern2	T	C	7: 121,769,483 (GRCm39)	R848G	probably damaging	Het
F13b	G	T	1: 139,438,689 (GRCm39)	R364S	probably benign	Het
F2rl1	A	G	13: 95,650,585 (GRCm39)	L99P	probably damaging	Het
Fam193a	C	A	5: 34,600,780 (GRCm39)	N171K	unknown	Het
Fst	A	G	13: 114,591,777 (GRCm39)	S201P	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm8232	A	G	14: 44,674,548 (GRCm39)	I182V		Het
Iqca1l	T	A	5: 24,754,008 (GRCm39)	H417L	probably benign	Het
Kalrn	C	T	16: 33,855,431 (GRCm39)	W1956*	probably null	Het
Lta4h	G	T	10: 93,289,456 (GRCm39)	D29Y	probably damaging	Het
Marchf7	C	T	2: 60,064,873 (GRCm39)	S383L	probably benign	Het
Mob3c	T	C	4: 115,688,635 (GRCm39)	I56T	probably benign	Het
Msl2	T	C	9: 100,978,894 (GRCm39)	S423P	probably benign	Het
Otop3	T	C	11: 115,235,901 (GRCm39)	I511T	possibly damaging	Het
Pbld2	T	G	10: 62,883,805 (GRCm39)	L90R	probably damaging	Het
Pcdh8	A	G	14: 80,006,919 (GRCm39)	V548A	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Plch2	T	A	4: 155,091,430 (GRCm39)	M228L	probably benign	Het
Prkdc	T	C	16: 15,523,117 (GRCm39)	C1180R	probably damaging	Het
Rasl2-9	A	T	7: 5,128,351 (GRCm39)	L193*	probably null	Het
Rbp3	A	G	14: 33,678,320 (GRCm39)	K756R	probably benign	Het
Rp1	T	C	1: 4,418,139 (GRCm39)	E991G	probably damaging	Het
Slc12a7	G	A	13: 73,938,796 (GRCm39)	R191H	probably damaging	Het
Spaca6	A	G	17: 18,052,321 (GRCm39)	N87S	possibly damaging	Het
Spata31e5	C	T	1: 28,817,225 (GRCm39)	C269Y	possibly damaging	Het
Speer1h	T	A	5: 11,647,646 (GRCm39)	M128K	probably damaging	Het
Stab2	A	T	10: 86,709,728 (GRCm39)	V1639E	probably damaging	Het
Thpo	T	C	16: 20,544,525 (GRCm39)	N235S	possibly damaging	Het
Tmem63b	T	A	17: 45,971,722 (GRCm39)	H831L	probably benign	Het
Tomm20l	T	C	12: 71,158,241 (GRCm39)	V8A	probably benign	Het
Trav13-5	A	G	14: 54,032,918 (GRCm39)	R3G	possibly damaging	Het
Vill	T	C	9: 118,887,547 (GRCm39)	S104P	probably damaging	Het

Other mutations in Klk1b16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Klk1b16	APN	7	43,790,102 (GRCm39)	missense	probably damaging	0.98
IGL01529:Klk1b16	APN	7	43,790,163 (GRCm39)	missense	probably benign	0.18
R1105:Klk1b16	UTSW	7	43,788,937 (GRCm39)	missense	probably damaging	0.98
R1106:Klk1b16	UTSW	7	43,788,937 (GRCm39)	missense	probably damaging	0.98
R1559:Klk1b16	UTSW	7	43,790,425 (GRCm39)	missense	probably benign	0.00
R3883:Klk1b16	UTSW	7	43,788,887 (GRCm39)	missense	possibly damaging	0.86
R3884:Klk1b16	UTSW	7	43,788,887 (GRCm39)	missense	possibly damaging	0.86
R4152:Klk1b16	UTSW	7	43,789,973 (GRCm39)	missense	probably benign	0.09
R4398:Klk1b16	UTSW	7	43,790,851 (GRCm39)	missense	probably damaging	1.00
R5231:Klk1b16	UTSW	7	43,786,771 (GRCm39)	missense	probably damaging	1.00
R5389:Klk1b16	UTSW	7	43,790,412 (GRCm39)	missense	possibly damaging	0.83
R5470:Klk1b16	UTSW	7	43,786,755 (GRCm39)	missense	probably damaging	0.99
R5532:Klk1b16	UTSW	7	43,790,950 (GRCm39)	missense	probably benign	0.00
R5690:Klk1b16	UTSW	7	43,790,318 (GRCm39)	critical splice acceptor site	probably null
R5717:Klk1b16	UTSW	7	43,788,913 (GRCm39)	missense	probably benign	0.00
R5749:Klk1b16	UTSW	7	43,790,210 (GRCm39)	missense	probably benign	0.03
R6589:Klk1b16	UTSW	7	43,790,894 (GRCm39)	missense	probably benign	0.03
R7084:Klk1b16	UTSW	7	43,788,910 (GRCm39)	missense	probably benign	0.01
R7336:Klk1b16	UTSW	7	43,790,907 (GRCm39)	missense	probably benign	0.05
R8358:Klk1b16	UTSW	7	43,790,185 (GRCm39)	missense	probably damaging	1.00
R9002:Klk1b16	UTSW	7	43,790,189 (GRCm39)	missense	possibly damaging	0.88
R9010:Klk1b16	UTSW	7	43,790,177 (GRCm39)	missense	probably benign	0.40
R9013:Klk1b16	UTSW	7	43,790,332 (GRCm39)	missense	probably benign	0.03
X0026:Klk1b16	UTSW	7	43,790,368 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTAGAATCCAACTGCCAGGC -3'
(R):5'- ATCCCTGAGTTGGTCTGAGC -3'

Sequencing Primer
(F):5'- CAACTGCCAGGCCCTGC -3'
(R):5'- GCCAACAATACATGTACTCCTGTC -3'

Posted On

2020-07-28