Mutagenetix > Incidental Mutation

Incidental Mutation 'R8151:Klk1b21'

632955

Institutional Source

Beutler Lab

Gene Symbol

Klk1b21

Ensembl Gene

ENSMUSG00000066516

Gene Name

kallikrein 1-related peptidase b21

Synonyms

mGk-21, Klk21

MMRRC Submission

067577-MU

Accession Numbers

Essential gene?

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

Stock #

R8151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43751752-43756007 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 43753787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 24 (R24*)

Ref Sequence

ENSEMBL: ENSMUSP00000082582 (fasta)

Gene Model

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

AlphaFold

Q61759

Predicted Effect

probably null
Transcript: ENSMUST00000085455
AA Change: R24*

SMART Domains

Protein: ENSMUSP00000082582
Gene: ENSMUSG00000066516
AA Change: R24*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.6%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,982,043 (GRCm39)	I1109T	possibly damaging	Het
Aipl1	C	A	11: 71,927,584 (GRCm39)	D44Y	probably benign	Het
Aldh8a1	C	T	10: 21,271,465 (GRCm39)	T397M	probably damaging	Het
Btbd16	T	C	7: 130,398,825 (GRCm39)	S278P	probably damaging	Het
Ccdc110	G	A	8: 46,395,830 (GRCm39)	E574K	probably damaging	Het
Cd19	T	A	7: 126,013,478 (GRCm39)	K104*	probably null	Het
Cenpe	A	G	3: 134,952,783 (GRCm39)	E1491G	probably benign	Het
Col12a1	A	T	9: 79,537,831 (GRCm39)	S2546T	possibly damaging	Het
Col18a1	T	C	10: 76,948,418 (GRCm39)	T365A	unknown	Het
Ctif	G	T	18: 75,653,176 (GRCm39)	D360E	probably benign	Het
Fat4	G	A	3: 38,946,203 (GRCm39)	E1699K	probably damaging	Het
Fbxo39	G	A	11: 72,208,526 (GRCm39)	V293M	probably damaging	Het
Fcgbpl1	T	C	7: 27,852,766 (GRCm39)	I1351T	possibly damaging	Het
Fhip1a	A	T	3: 85,595,847 (GRCm39)	I346N	probably damaging	Het
Havcr2	A	G	11: 46,366,722 (GRCm39)	K221E	possibly damaging	Het
Hdac5	T	C	11: 102,097,294 (GRCm39)	T209A	probably benign	Het
Herc1	A	G	9: 66,341,073 (GRCm39)	Q1730R	probably damaging	Het
Ifi202b	T	C	1: 173,804,923 (GRCm39)	T10A	probably benign	Het
Il18rap	T	C	1: 40,564,428 (GRCm39)	S153P	probably benign	Het
Kras	ACTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTC	6: 145,166,360 (GRCm39)		probably benign	Het
Ldlrad4	A	G	18: 68,383,643 (GRCm39)	E113G	possibly damaging	Het
Lhcgr	AT	ATT	17: 89,049,677 (GRCm39)	615	probably null	Het
Macf1	T	C	4: 123,291,206 (GRCm39)	E3895G	possibly damaging	Het
Mug1	T	C	6: 121,818,117 (GRCm39)	S143P	probably benign	Het
Nudcd2	A	T	11: 40,624,529 (GRCm39)		probably benign	Het
Nup85	A	G	11: 115,468,759 (GRCm39)	T201A	probably benign	Het
Odad2	A	G	18: 7,127,358 (GRCm39)	F952L	probably damaging	Het
Plppr2	A	G	9: 21,852,105 (GRCm39)	E64G	probably damaging	Het
Plvap	A	G	8: 71,960,625 (GRCm39)	S264P	probably benign	Het
Polm	T	C	11: 5,787,906 (GRCm39)		probably benign	Het
Polr2d	T	A	18: 31,928,365 (GRCm39)	H93Q	probably damaging	Het
Ptprt	T	C	2: 162,120,005 (GRCm39)	E154G	probably damaging	Het
Rasal2	C	A	1: 157,071,154 (GRCm39)	G67C	probably damaging	Het
Sdk2	A	G	11: 113,763,683 (GRCm39)	V329A	possibly damaging	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Spef2	A	G	15: 9,601,598 (GRCm39)	S1555P	unknown	Het
Srgap3	A	C	6: 112,793,628 (GRCm39)	L116R	probably damaging	Het
St6galnac3	C	T	3: 153,117,217 (GRCm39)	V169M	probably damaging	Het
Stx16	T	A	2: 173,935,284 (GRCm39)	M206K	possibly damaging	Het
Txnip	A	G	3: 96,466,929 (GRCm39)	D201G	possibly damaging	Het
Ubr4	T	C	4: 139,130,112 (GRCm39)	V718A	probably damaging	Het
Vav3	A	C	3: 109,416,164 (GRCm39)	D261A	probably benign	Het
Vcam1	A	C	3: 115,918,128 (GRCm39)	L278V	possibly damaging	Het
Vta1	C	A	10: 14,543,697 (GRCm39)	A226S	probably damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp777	G	A	6: 48,006,075 (GRCm39)	Q440*	probably null	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
R5499:Klk1b21	UTSW	7	43,755,100 (GRCm39)	missense	probably benign	0.07
R5623:Klk1b21	UTSW	7	43,754,989 (GRCm39)	missense	probably damaging	0.98
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'- ACATTATACCTGATCCCTGATTCAG -3'
(R):5'- AGTCATGTTCTCTGGCTGCC -3'

Sequencing Primer
(F):5'- AGGAATTCTTTCTATACCCACAGC -3'
(R):5'- GCTGCCACCCTGCTTTCATG -3'

Posted On

2020-06-30