Mutagenetix > Incidental Mutation

Incidental Mutation 'R4152:Klk1b16'

314948

Institutional Source

Beutler Lab

Gene Symbol

Klk1b16

Ensembl Gene

ENSMUSG00000038968

Gene Name

kallikrein 1-related peptidase b16

Synonyms

mGk-16, Klk16

MMRRC Submission

040996-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4152 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43786191-43791034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43789973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 81 (F81S)

Ref Sequence

ENSEMBL: ENSMUSP00000005933 (fasta)

Gene Model

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

AlphaFold

P04071

Predicted Effect

probably benign
Transcript: ENSMUST00000005933
AA Change: F81S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000005933
Gene: ENSMUSG00000038968
AA Change: F81S

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

Meta Mutation Damage Score

0.0886

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (45/47)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,183,752 (GRCm39)	M31R	possibly damaging	Het
Akap6	A	C	12: 53,187,190 (GRCm39)	S1535R	probably benign	Het
Ap3b2	A	G	7: 81,127,765 (GRCm39)	I137T	probably damaging	Het
Cdc16	A	G	8: 13,812,857 (GRCm39)	S36G	probably damaging	Het
Clcn4	T	C	7: 7,297,833 (GRCm39)	N67D	probably benign	Het
Col4a1	T	C	8: 11,267,227 (GRCm39)		probably null	Het
Crem	G	T	18: 3,288,055 (GRCm39)	N179K	probably damaging	Het
Fam78b	T	C	1: 166,906,369 (GRCm39)	M176T	probably benign	Het
Fcgbpl1	T	A	7: 27,856,322 (GRCm39)	H2036Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,413 (GRCm39)		probably null	Het
Gm6483	T	C	8: 19,737,926 (GRCm39)		noncoding transcript	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lpgat1	C	A	1: 191,451,600 (GRCm39)	Y36*	probably null	Het
Mavs	A	G	2: 131,088,528 (GRCm39)	D444G	probably benign	Het
Ndst3	T	C	3: 123,465,876 (GRCm39)	Y32C	probably damaging	Het
Nemp2	A	G	1: 52,680,210 (GRCm39)	S145G	probably benign	Het
Or52b1	T	C	7: 104,978,592 (GRCm39)	N269S	probably damaging	Het
Or7g20	T	A	9: 18,946,816 (GRCm39)	Y132*	probably null	Het
Or8g52	A	C	9: 39,631,296 (GRCm39)	M258L	probably benign	Het
Pds5a	A	T	5: 65,823,514 (GRCm39)	C92*	probably null	Het
Pgk2	A	G	17: 40,519,149 (GRCm39)	V93A	probably damaging	Het
Phf3	C	T	1: 30,870,539 (GRCm39)	V116I	probably benign	Het
Prl8a2	T	C	13: 27,534,985 (GRCm39)	Y86H	possibly damaging	Het
Rab4b	T	C	7: 26,875,551 (GRCm39)		probably benign	Het
Rsad1	T	C	11: 94,439,449 (GRCm39)		probably benign	Het
Sim1	G	A	10: 50,859,950 (GRCm39)	C604Y	probably damaging	Het
Slc5a3	T	A	16: 91,874,696 (GRCm39)	L251*	probably null	Het
Slit3	A	G	11: 35,589,147 (GRCm39)	N1234S	probably damaging	Het
Sntg1	A	T	1: 8,653,569 (GRCm39)		probably null	Het
Snx31	T	C	15: 36,525,785 (GRCm39)	N305D	probably benign	Het
St14	T	C	9: 31,001,802 (GRCm39)	I768V	probably benign	Het
Tep1	G	A	14: 51,075,051 (GRCm39)	H1755Y	possibly damaging	Het
Tlr6	A	C	5: 65,110,555 (GRCm39)	F784C	probably damaging	Het
Tmem132a	A	G	19: 10,836,427 (GRCm39)	V701A	probably benign	Het
Tspan15	A	T	10: 62,025,621 (GRCm39)	M197K	possibly damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Vegfb	T	C	19: 6,963,446 (GRCm39)	Y106C	probably damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,743,681 (GRCm39)		probably null	Het
Vmn2r18	T	A	5: 151,485,730 (GRCm39)	Q588L	probably damaging	Het
Vmn2r66	T	C	7: 84,654,800 (GRCm39)	D503G	probably benign	Het
Zc3h15	T	C	2: 83,488,913 (GRCm39)	V161A	probably benign	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
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
R8281:Klk1b16	UTSW	7	43,790,971 (GRCm39)	missense	probably benign
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'- GGAAGTTCACCTGAGAAGCTCTC -3'
(R):5'- TCGATGGGCTTCACAACATCTG -3'

Sequencing Primer
(F):5'- GAGAAGCTCTCAGGCCTACC -3'
(R):5'- CATCTGTGATGTCAGCAGGC -3'

Posted On

2015-05-14