Mutagenetix > Incidental Mutation

Incidental Mutation 'R5532:Klk1b16'

436217

Institutional Source

Beutler Lab

Gene Symbol

Klk1b16

Ensembl Gene

ENSMUSG00000038968

Gene Name

kallikrein 1-related peptidase b16

Synonyms

mGk-16, Klk16

MMRRC Submission

043090-MU

Accession Numbers

Essential gene?

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

Stock #

R5532 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43786191-43791034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43790950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 251 (S251P)

Ref Sequence

ENSEMBL: ENSMUSP00000005933 (fasta)

Gene Model

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

AlphaFold

P04071

Predicted Effect

probably benign
Transcript: ENSMUST00000005933
AA Change: S251P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000005933
Gene: ENSMUSG00000038968
AA Change: S251P

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,530,293 (GRCm39)		probably null	Het
Adsl	C	G	15: 80,848,110 (GRCm39)	P118A	probably damaging	Het
Ano6	C	T	15: 95,860,122 (GRCm39)	P748L	probably damaging	Het
Arhgap10	A	T	8: 78,146,701 (GRCm39)	N234K	probably benign	Het
Arhgap18	T	A	10: 26,722,104 (GRCm39)	I25K	possibly damaging	Het
AW551984	T	C	9: 39,508,481 (GRCm39)	Y345C	probably damaging	Het
Ccdc146	A	G	5: 21,510,329 (GRCm39)	V561A	probably benign	Het
Cenpv	G	A	11: 62,418,398 (GRCm39)	T185M	probably damaging	Het
Fat2	T	A	11: 55,153,163 (GRCm39)	D3683V	probably damaging	Het
Galns	T	C	8: 123,311,765 (GRCm39)	D415G	possibly damaging	Het
Gatad2a	G	A	8: 70,369,070 (GRCm39)	T259M	probably damaging	Het
Gja8	T	C	3: 96,827,648 (GRCm39)	S5G	probably benign	Het
Ifi209	T	C	1: 173,466,542 (GRCm39)	S125P	probably damaging	Het
Iigp1c	A	G	18: 60,379,142 (GRCm39)	I226V	probably benign	Het
Il12rb2	G	A	6: 67,269,246 (GRCm39)	R856W	probably damaging	Het
Kcnq3	A	T	15: 65,869,622 (GRCm39)	Y605*	probably null	Het
Map2	A	G	1: 66,453,779 (GRCm39)	N890D	probably damaging	Het
Map4	T	A	9: 109,863,746 (GRCm39)	S324T	probably benign	Het
Mmp28	T	C	11: 83,333,684 (GRCm39)	D419G	probably damaging	Het
Mtnr1b	A	G	9: 15,774,210 (GRCm39)	L283P	probably benign	Het
Ndufb7	T	A	8: 84,298,063 (GRCm39)	Y95N	probably damaging	Het
Nfrkb	C	T	9: 31,309,075 (GRCm39)	R280W	probably damaging	Het
Npc1l1	A	G	11: 6,174,245 (GRCm39)	Y687H	probably damaging	Het
Or6f1	A	C	7: 85,970,879 (GRCm39)	F94V	possibly damaging	Het
Or8b40	C	T	9: 38,027,923 (GRCm39)	T277I	probably benign	Het
Or8g51	T	C	9: 38,608,943 (GRCm39)	T240A	probably damaging	Het
Or8h9	T	A	2: 86,788,924 (GRCm39)	R293*	probably null	Het
Pabpc4l	T	C	3: 46,401,044 (GRCm39)	D200G	probably benign	Het
Plekhg6	T	C	6: 125,349,514 (GRCm39)	E361G	possibly damaging	Het
Pramel31	A	T	4: 144,090,061 (GRCm39)	D367V	probably damaging	Het
Rictor	A	G	15: 6,819,046 (GRCm39)	Y1423C	probably damaging	Het
Rsf1	G	A	7: 97,329,902 (GRCm39)	D1143N	probably damaging	Het
Spsb4	C	T	9: 96,877,627 (GRCm39)		probably null	Het
Strada	G	T	11: 106,061,843 (GRCm39)	A136E	probably damaging	Het
Syce2	A	T	8: 85,610,131 (GRCm39)	Q73L	probably damaging	Het
Teddm2	A	T	1: 153,726,130 (GRCm39)	V195D	probably benign	Het
Tex36	A	T	7: 133,203,712 (GRCm39)	N12K	probably benign	Het
Ubtf	A	G	11: 102,199,785 (GRCm39)	S484P	probably benign	Het
Ufd1	T	G	16: 18,636,680 (GRCm39)	L66R	probably damaging	Het
Vmn2r74	C	T	7: 85,601,197 (GRCm39)	A814T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	possibly damaging	Het
Xrcc1	T	A	7: 24,267,353 (GRCm39)		probably null	Het
Zfp277	A	C	12: 40,385,308 (GRCm39)	C305G	probably damaging	Het
Zfp998	A	T	13: 66,579,740 (GRCm39)	C248S	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
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'- TAGAATCCAACTGCCAGGC -3'
(R):5'- GCATTTGTCTCAACCCCATG -3'

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

Posted On

2016-10-24