Mutagenetix > Incidental Mutation

Incidental Mutation 'R5499:Klk1b21'

430515

Institutional Source

Beutler Lab

Gene Symbol

Klk1b21

Ensembl Gene

ENSMUSG00000066516

Gene Name

kallikrein 1-related peptidase b21

Synonyms

mGk-21, Klk21

MMRRC Submission

043060-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5499 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43751752-43756007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43755100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 132 (I132V)

Ref Sequence

ENSEMBL: ENSMUSP00000082582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085455]

AlphaFold

Q61759

Predicted Effect

probably benign
Transcript: ENSMUST00000085455
AA Change: I132V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000082582
Gene: ENSMUSG00000066516
AA Change: I132V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	9.09e-96	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205984

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.0%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	A	2: 68,432,137 (GRCm39)	E74K	unknown	Het
Adam10	A	T	9: 70,647,399 (GRCm39)	H176L	probably benign	Het
Anapc5	C	T	5: 122,926,476 (GRCm39)	E621K	probably damaging	Het
Asf1a	T	A	10: 53,482,266 (GRCm39)	L26Q	probably damaging	Het
Atxn1l	A	G	8: 110,458,264 (GRCm39)	L666P	probably damaging	Het
Cep290	G	A	10: 100,373,515 (GRCm39)	R1265H	probably damaging	Het
Chd8	A	G	14: 52,441,888 (GRCm39)		probably null	Het
Ctse	T	A	1: 131,600,251 (GRCm39)	Y333*	probably null	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dnah11	A	T	12: 118,070,209 (GRCm39)	V1532D	possibly damaging	Het
Dnai7	A	T	6: 145,123,157 (GRCm39)	W570R	probably damaging	Het
Ercc6	G	A	14: 32,238,916 (GRCm39)	M1I	probably null	Het
Fbxl4	A	G	4: 22,386,017 (GRCm39)	E208G	probably damaging	Het
Fstl4	G	T	11: 52,959,374 (GRCm39)	M138I	probably benign	Het
Galnt17	T	A	5: 130,929,466 (GRCm39)	Q447L	probably benign	Het
H2-Q7	T	A	17: 35,658,916 (GRCm39)	C122*	probably null	Het
Herpud1	C	T	8: 95,116,041 (GRCm39)	L69F	probably damaging	Het
Hnrnpa3	A	G	2: 75,495,584 (GRCm39)	Y365C	probably benign	Het
Ino80	A	T	2: 119,272,128 (GRCm39)	V553E	probably damaging	Het
Kif13a	A	G	13: 46,986,212 (GRCm39)	Y38H	probably damaging	Het
Lamb2	T	C	9: 108,365,001 (GRCm39)	S1252P	possibly damaging	Het
Lct	T	A	1: 128,214,414 (GRCm39)	D1786V	probably damaging	Het
Lrig2	T	A	3: 104,368,873 (GRCm39)	M572L	probably benign	Het
Lrp1	C	T	10: 127,408,813 (GRCm39)	V1710I	possibly damaging	Het
Mmp12	C	A	9: 7,353,000 (GRCm39)	S250R	probably benign	Het
Mycbp2	T	C	14: 103,479,615 (GRCm39)	D1226G	probably damaging	Het
Myocd	A	G	11: 65,069,575 (GRCm39)	I755T	possibly damaging	Het
Nup210l	T	C	3: 90,081,677 (GRCm39)	L1003P	probably damaging	Het
Or11h23	G	A	14: 50,948,324 (GRCm39)	C179Y	probably damaging	Het
Or1af1	T	C	2: 37,109,777 (GRCm39)	I92T	possibly damaging	Het
Or52e8b	A	T	7: 104,674,184 (GRCm39)	M1K	probably null	Het
Palmd	T	A	3: 116,717,481 (GRCm39)	M339L	probably benign	Het
Phtf1	T	A	3: 103,898,491 (GRCm39)	N307K	probably benign	Het
Ppp2r3c	T	C	12: 55,335,411 (GRCm39)	I243V	probably benign	Het
Ptafr	A	G	4: 132,306,646 (GRCm39)	E12G	probably damaging	Het
Rpgrip1	T	A	14: 52,378,042 (GRCm39)	N463K	probably benign	Het
Sgcb	T	C	5: 73,801,748 (GRCm39)	N39S	probably damaging	Het
Skint5	A	G	4: 113,799,700 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slfn8	C	A	11: 82,895,042 (GRCm39)	S588I	probably damaging	Het
Tcea2	A	G	2: 181,322,227 (GRCm39)	I10V	probably damaging	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Top2a	C	T	11: 98,913,202 (GRCm39)	V77I	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vrk1	A	G	12: 106,018,024 (GRCm39)	K98E	possibly damaging	Het
Zcchc2	C	T	1: 105,958,322 (GRCm39)	T931I	possibly damaging	Het
Zfc3h1	T	A	10: 115,246,598 (GRCm39)	L895H	probably damaging	Het
Zfp101	T	C	17: 33,601,318 (GRCm39)	E108G	probably benign	Het
Zfp609	A	G	9: 65,610,137 (GRCm39)	V942A	probably benign	Het

Other mutations in Klk1b21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00731:Klk1b21	APN	7	43,755,347 (GRCm39)	missense	possibly damaging	0.81
IGL01710:Klk1b21	APN	7	43,755,919 (GRCm39)	missense	probably benign	0.13
IGL02015:Klk1b21	APN	7	43,753,782 (GRCm39)	missense	probably benign	0.41
R0138:Klk1b21	UTSW	7	43,755,319 (GRCm39)	missense	probably damaging	1.00
R0384:Klk1b21	UTSW	7	43,754,917 (GRCm39)	missense	probably benign	0.03
R1456:Klk1b21	UTSW	7	43,754,923 (GRCm39)	missense	probably benign	0.01
R2021:Klk1b21	UTSW	7	43,755,418 (GRCm39)	nonsense	probably null
R2119:Klk1b21	UTSW	7	43,755,193 (GRCm39)	missense	probably benign
R2265:Klk1b21	UTSW	7	43,753,863 (GRCm39)	missense	possibly damaging	0.51
R2267:Klk1b21	UTSW	7	43,753,863 (GRCm39)	missense	possibly damaging	0.51
R2269:Klk1b21	UTSW	7	43,753,863 (GRCm39)	missense	possibly damaging	0.51
R5623:Klk1b21	UTSW	7	43,754,989 (GRCm39)	missense	probably damaging	0.98
R8151:Klk1b21	UTSW	7	43,753,787 (GRCm39)	nonsense	probably null
R8754:Klk1b21	UTSW	7	43,755,912 (GRCm39)	missense	probably benign	0.09
R9139:Klk1b21	UTSW	7	43,754,924 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCACCAGCCAGTATAATG -3'
(R):5'- GGATTTGCCCTGTGGATGAC -3'

Sequencing Primer
(F):5'- GCCACCAGCCAGTATAATGTTTGG -3'
(R):5'- TGTGGATGACAGGGAAAGTG -3'

Posted On

2016-10-05