Mutagenetix > Incidental Mutation

Incidental Mutation 'R5690:Klk1b16'

443627

Institutional Source

Beutler Lab

Gene Symbol

Klk1b16

Ensembl Gene

ENSMUSG00000038968

Gene Name

kallikrein 1-related peptidase b16

Synonyms

mGk-16, Klk16

MMRRC Submission

043323-MU

Accession Numbers

Essential gene?

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

Stock #

R5690 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43786191-43791034 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 43790318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000005933 (fasta)

Gene Model

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

AlphaFold

P04071

Predicted Effect

probably null
Transcript: ENSMUST00000005933

SMART Domains

Protein: ENSMUSP00000005933
Gene: ENSMUSG00000038968

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,759,144 (GRCm39)		probably benign	Het
Acadl	T	C	1: 66,892,445 (GRCm39)	Y126C	probably damaging	Het
Ak6	A	G	13: 100,792,129 (GRCm39)		probably null	Het
Ap1s1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	5: 137,066,233 (GRCm39)		probably benign	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Atp6v1e1	A	T	6: 120,785,317 (GRCm39)		probably null	Het
Axin1	A	G	17: 26,413,911 (GRCm39)	Y792C	probably damaging	Het
C1s2	T	C	6: 124,607,996 (GRCm39)	N233S	probably benign	Het
Ccer2	C	A	7: 28,455,629 (GRCm39)		probably benign	Het
Cfap46	A	G	7: 139,218,269 (GRCm39)	S1481P	probably benign	Het
Cspg4	A	T	9: 56,806,019 (GRCm39)	T2277S	probably benign	Het
Ctsl	T	A	13: 64,513,022 (GRCm39)	N300I	probably damaging	Het
Dnah2	T	C	11: 69,382,370 (GRCm39)	I1247V	probably benign	Het
Dsg3	A	T	18: 20,655,108 (GRCm39)	Q135L	probably benign	Het
Efcab14	G	A	4: 115,617,244 (GRCm39)	V318M	possibly damaging	Het
Etl4	G	A	2: 20,810,647 (GRCm39)	S910N	probably benign	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Frmd4b	T	C	6: 97,330,164 (GRCm39)	E133G	possibly damaging	Het
Herc2	T	C	7: 55,807,453 (GRCm39)	F2514S	probably benign	Het
Il18rap	A	G	1: 40,576,272 (GRCm39)	D261G	possibly damaging	Het
Lrp1b	A	C	2: 40,640,906 (GRCm39)		probably null	Het
Mrpl45	C	A	11: 97,212,412 (GRCm39)		probably benign	Het
Myh13	A	G	11: 67,220,101 (GRCm39)	E150G	probably damaging	Het
Nbas	T	A	12: 13,386,285 (GRCm39)	V737D	probably damaging	Het
Ncr1	T	C	7: 4,341,296 (GRCm39)	Y59H	probably damaging	Het
Nt5c1a	T	A	4: 123,109,732 (GRCm39)	V277E	probably damaging	Het
Ogfod1	T	A	8: 94,784,769 (GRCm39)	S343T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pnpla1	A	T	17: 29,097,346 (GRCm39)	I171F	probably damaging	Het
Rab5if	G	A	2: 156,707,234 (GRCm39)	V58I	probably benign	Het
Rdh8	A	G	9: 20,736,785 (GRCm39)	N259S	probably damaging	Het
Resf1	T	C	6: 149,229,735 (GRCm39)	L927S	possibly damaging	Het
Slc22a12	A	G	19: 6,586,878 (GRCm39)	M496T	probably benign	Het
Slc8b1	G	A	5: 120,651,270 (GRCm39)	W10*	probably null	Het
Smarcc2	G	A	10: 128,320,276 (GRCm39)	G887S	probably damaging	Het
Smc1b	A	G	15: 84,996,974 (GRCm39)	S549P	probably damaging	Het
Synj2	A	G	17: 6,085,802 (GRCm39)	M1181V	probably benign	Het
Tbx15	T	C	3: 99,216,166 (GRCm39)	S76P	probably damaging	Het
Tbx2	A	T	11: 85,727,879 (GRCm39)	I271F	probably damaging	Het
Thap4	A	G	1: 93,644,352 (GRCm39)		probably null	Het
Tmc2	A	G	2: 130,074,306 (GRCm39)	Y333C	probably damaging	Het
Trcg1	C	T	9: 57,149,094 (GRCm39)	P222L	probably benign	Het
Tubb3	T	C	8: 124,148,045 (GRCm39)	V326A	probably benign	Het
Unc80	A	C	1: 66,679,731 (GRCm39)	I2101L	probably benign	Het
Vmn1r19	T	C	6: 57,381,780 (GRCm39)	L111S	probably benign	Het
Vps16	C	T	2: 130,281,011 (GRCm39)	Q226*	probably null	Het
Xpo4	T	C	14: 57,828,446 (GRCm39)	I805V	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
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
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'- AATGACCTGATGCTGCTCCG -3'
(R):5'- CTTCACCTCACTGCAGAAAGG -3'

Sequencing Primer
(F):5'- ATGTTGTGAAGCCCATCGAC -3'
(R):5'- AGAAAGGGGCTGTCTCACCAC -3'

Posted On

2016-11-09