Mutagenetix > Incidental Mutations

Incidental Mutation 'R5231:Klk1b16'

398520

Institutional Source

Beutler Lab

Gene Symbol

Klk1b16

Ensembl Gene

ENSMUSG00000038968

Gene Name

kallikrein 1-related peptidase b16

Synonyms

Klk16, mGk-16

MMRRC Submission

042803-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5231 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

44136767-44141610 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44137347 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 10 (L10Q)

Ref Sequence

ENSEMBL: ENSMUSP00000005933 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000005933
AA Change: L10Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005933
Gene: ENSMUSG00000038968
AA Change: L10Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206376

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,951	H716L	possibly damaging	Het
9130019O22Rik	T	C	7: 127,385,414	Y172C	probably damaging	Het
Adat3	T	C	10: 80,606,426	S33P	possibly damaging	Het
Bche	G	A	3: 73,700,861	P411S	probably benign	Het
Chil3	A	G	3: 106,155,729	S182P	probably damaging	Het
Col6a4	T	C	9: 106,025,531	E1653G	probably damaging	Het
Csk	G	T	9: 57,630,378	H84Q	probably damaging	Het
Csmd2	A	G	4: 128,546,049	T3099A	probably benign	Het
Deup1	G	T	9: 15,575,199	A395E	probably damaging	Het
Frem2	T	C	3: 53,522,295	Y2778C	probably damaging	Het
Gm10020	T	C	15: 52,478,044		noncoding transcript	Het
Igfn1	T	C	1: 135,966,736	T2031A	probably benign	Het
Ighv1-53	C	A	12: 115,158,605	S50I	probably benign	Het
Ighv1-62-3	A	T	12: 115,461,051	M100K	possibly damaging	Het
Igkv2-109	T	A	6: 68,302,445	F3I	probably benign	Het
Isl1	T	C	13: 116,301,657	D296G	probably benign	Het
Kmt2c	A	T	5: 25,315,473	S1880T	possibly damaging	Het
Lhcgr	T	A	17: 88,755,611	N211I	probably damaging	Het
Ltb	C	T	17: 35,195,826	L201F	probably damaging	Het
Mfsd2a	A	G	4: 122,959,301	F64S	possibly damaging	Het
Mmp10	T	C	9: 7,502,500		probably null	Het
Mycbp2	A	C	14: 103,346,214		probably null	Het
Olfr1499	A	T	19: 13,815,347	I81N	probably damaging	Het
Olfr181	T	C	16: 58,925,714	I286V	possibly damaging	Het
Olfr394	C	A	11: 73,887,955	C139F	probably damaging	Het
Olfr589	A	T	7: 103,154,968	F260I	probably damaging	Het
Peg10	C	T	6: 4,756,939		probably benign	Het
Plscr1	C	A	9: 92,266,731	P208H	probably damaging	Het
Rhot1	T	C	11: 80,227,334		probably null	Het
Smarcc2	T	C	10: 128,461,352	Y38H	probably damaging	Het
Stat2	T	C	10: 128,281,242		probably null	Het
Trip11	T	C	12: 101,885,601	K735E	probably damaging	Het
Ttll1	T	A	15: 83,489,466		probably null	Het
Vmn2r37	C	A	7: 9,206,595	L639F	possibly damaging	Het
Vmn2r60	A	T	7: 42,137,024	Q417L	possibly damaging	Het
Vps8	A	T	16: 21,576,725	D1255V	probably damaging	Het
Zfp354b	A	C	11: 50,923,090	I336S	probably benign	Het

Other mutations in Klk1b16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Klk1b16	APN	7	44140678	missense	probably damaging	0.98
IGL01529:Klk1b16	APN	7	44140739	missense	probably benign	0.18
R1105:Klk1b16	UTSW	7	44139513	missense	probably damaging	0.98
R1106:Klk1b16	UTSW	7	44139513	missense	probably damaging	0.98
R1559:Klk1b16	UTSW	7	44141001	missense	probably benign	0.00
R3883:Klk1b16	UTSW	7	44139463	missense	possibly damaging	0.86
R3884:Klk1b16	UTSW	7	44139463	missense	possibly damaging	0.86
R4152:Klk1b16	UTSW	7	44140549	missense	probably benign	0.09
R4398:Klk1b16	UTSW	7	44141427	missense	probably damaging	1.00
R5389:Klk1b16	UTSW	7	44140988	missense	possibly damaging	0.83
R5470:Klk1b16	UTSW	7	44137331	missense	probably damaging	0.99
R5532:Klk1b16	UTSW	7	44141526	missense	probably benign	0.00
R5690:Klk1b16	UTSW	7	44140894	critical splice acceptor site	probably null
R5717:Klk1b16	UTSW	7	44139489	missense	probably benign	0.00
R5749:Klk1b16	UTSW	7	44140786	missense	probably benign	0.03
R6589:Klk1b16	UTSW	7	44141470	missense	probably benign	0.03
R7084:Klk1b16	UTSW	7	44139486	missense	probably benign	0.01
R7336:Klk1b16	UTSW	7	44141483	missense	probably benign	0.05
X0026:Klk1b16	UTSW	7	44140944	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TACAGTGGGTACAACGAGGC -3'
(R):5'- TCTGTGAGCAAGGACTGTG -3'

Sequencing Primer
(F):5'- ATTCCACAGCCAGGATGGTG -3'
(R):5'- ACTGTGAGGGACCTGGCAG -3'

Posted On

2016-07-06