Mutagenetix > Incidental Mutation

Incidental Mutation 'R5883:Klk1b24'

454519

Institutional Source

Beutler Lab

Gene Symbol

Klk1b24

Ensembl Gene

ENSMUSG00000063713

Gene Name

kallikrein 1-related peptidase b24

Synonyms

mGk-24, Klk24

MMRRC Submission

044086-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5883 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

43837660-43841879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43839787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 49 (I49V)

Ref Sequence

ENSEMBL: ENSMUSP00000073392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073713]

AlphaFold

Q61754

Predicted Effect

probably benign
Transcript: ENSMUST00000073713
AA Change: I49V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000073392
Gene: ENSMUSG00000063713
AA Change: I49V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	255	1.22e-96	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206937

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.9%
20x: 83.7%

Validation Efficiency

100% (70/70)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aass	G	A	6: 23,072,993 (GRCm39)	T920I	probably benign	Het
Akirin2	A	G	4: 34,565,256 (GRCm39)	I168V	possibly damaging	Het
Ambn	T	A	5: 88,615,688 (GRCm39)	Y372*	probably null	Het
Ano3	T	A	2: 110,711,209 (GRCm39)	E85V	probably null	Het
Bmf	C	T	2: 118,377,447 (GRCm39)		silent	Het
Bmper	T	A	9: 23,317,970 (GRCm39)	S530T	probably benign	Het
Bop1	T	C	15: 76,339,049 (GRCm39)	D383G	probably damaging	Het
Bub1b	T	A	2: 118,440,363 (GRCm39)	Y156N	probably damaging	Het
Cacna1h	A	G	17: 25,595,896 (GRCm39)	V1987A	probably benign	Het
Cd84	T	C	1: 171,700,405 (GRCm39)	V174A	possibly damaging	Het
Cep290	T	A	10: 100,359,261 (GRCm39)	L997Q	probably benign	Het
Chil4	C	T	3: 106,117,886 (GRCm39)	R128H	possibly damaging	Het
Cpne3	A	T	4: 19,552,314 (GRCm39)	V106D	possibly damaging	Het
D6Wsu163e	A	G	6: 126,943,879 (GRCm39)	E425G	probably damaging	Het
Dlgap1	A	T	17: 70,824,008 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,369,711 (GRCm39)	H4379N	probably damaging	Het
Gm10309	A	G	17: 86,806,185 (GRCm39)		probably benign	Het
Gm6264	G	A	1: 85,148,903 (GRCm39)		probably benign	Het
Has2	T	A	15: 56,531,459 (GRCm39)	I419F	possibly damaging	Het
Hscb	A	G	5: 110,987,444 (GRCm39)	C51R	probably benign	Het
Ighv1-61	T	C	12: 115,323,183 (GRCm39)	S4G	probably benign	Het
Islr2	G	T	9: 58,105,998 (GRCm39)	Q465K	probably benign	Het
Jakmip2	T	C	18: 43,715,059 (GRCm39)	I156V	possibly damaging	Het
Krt90	C	T	15: 101,461,654 (GRCm39)		probably benign	Het
Larp1	C	T	11: 57,933,125 (GRCm39)	S243F	probably damaging	Het
Lrp4	T	C	2: 91,318,778 (GRCm39)	Y872H	probably benign	Het
Maip1	T	C	1: 57,446,260 (GRCm39)	M110T	probably damaging	Het
Marchf7	G	A	2: 60,064,786 (GRCm39)	R354Q	probably damaging	Het
Med12l	G	T	3: 58,998,889 (GRCm39)	E605D	probably damaging	Het
Nt5c1a	T	A	4: 123,110,049 (GRCm39)		probably null	Het
Or2j6	T	A	7: 139,980,101 (GRCm39)	Y286F	probably damaging	Het
Or5ac25	A	T	16: 59,182,078 (GRCm39)	C168S	probably damaging	Het
Or5p66	C	T	7: 107,885,451 (GRCm39)	S294N	probably damaging	Het
Pdzd9	T	A	7: 120,267,776 (GRCm39)	E13V	possibly damaging	Het
Ppip5k2	C	T	1: 97,635,535 (GRCm39)	A1100T	possibly damaging	Het
Prkdc	C	A	16: 15,533,778 (GRCm39)	Q1539K	probably benign	Het
Rad54l	C	G	4: 115,956,243 (GRCm39)		probably benign	Het
Ric1	T	A	19: 29,573,389 (GRCm39)	I943N	probably damaging	Het
Rif1	T	A	2: 51,995,651 (GRCm39)		probably null	Het
Rpl12	T	C	2: 32,852,536 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,860,637 (GRCm39)		probably benign	Het
Scarb1	C	A	5: 125,417,971 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,040,463 (GRCm39)	E359G	probably damaging	Het
Taf5	A	G	19: 47,056,228 (GRCm39)	T9A	unknown	Het
Tmem128	C	T	5: 38,423,885 (GRCm39)	A33V	possibly damaging	Het
Tox	A	C	4: 6,697,444 (GRCm39)	V453G	probably benign	Het
Ubxn4	T	A	1: 128,183,867 (GRCm39)	C76S	probably damaging	Het
Vmn2r100	A	T	17: 19,743,786 (GRCm39)	Y483F	probably benign	Het
Xkr5	A	G	8: 18,990,806 (GRCm39)	S154P	probably damaging	Het
Zfp687	T	C	3: 94,919,355 (GRCm39)	N139S	probably benign	Het

Other mutations in Klk1b24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Klk1b24	APN	7	43,841,057 (GRCm39)	missense	probably damaging	0.96
IGL02394:Klk1b24	APN	7	43,841,294 (GRCm39)	missense	possibly damaging	0.65
IGL02500:Klk1b24	APN	7	43,837,748 (GRCm39)	splice site	probably benign
IGL03030:Klk1b24	APN	7	43,840,790 (GRCm39)	missense	probably benign
R1458:Klk1b24	UTSW	7	43,840,890 (GRCm39)	missense	possibly damaging	0.49
R1465:Klk1b24	UTSW	7	43,840,785 (GRCm39)	missense	probably benign	0.24
R1465:Klk1b24	UTSW	7	43,840,785 (GRCm39)	missense	probably benign	0.24
R1714:Klk1b24	UTSW	7	43,840,939 (GRCm39)	missense	probably damaging	1.00
R1771:Klk1b24	UTSW	7	43,837,653 (GRCm39)	splice site	probably null
R1791:Klk1b24	UTSW	7	43,839,852 (GRCm39)	splice site	probably null
R3690:Klk1b24	UTSW	7	43,841,243 (GRCm39)	missense	probably benign
R4726:Klk1b24	UTSW	7	43,839,820 (GRCm39)	missense	probably damaging	1.00
R5654:Klk1b24	UTSW	7	43,840,889 (GRCm39)	missense	probably benign	0.00
R6775:Klk1b24	UTSW	7	43,840,889 (GRCm39)	missense	probably benign	0.05
R7083:Klk1b24	UTSW	7	43,841,225 (GRCm39)	missense	probably damaging	1.00
R7484:Klk1b24	UTSW	7	43,839,688 (GRCm39)	critical splice acceptor site	probably null
R7644:Klk1b24	UTSW	7	43,841,304 (GRCm39)	splice site	probably null
R9761:Klk1b24	UTSW	7	43,839,779 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CTGATCCCAGCAGTGCTTAAC -3'
(R):5'- TCTGAACACAAATCTGGAGGG -3'

Sequencing Primer
(F):5'- TAACTGTGTCCATCAAGGGTTGACC -3'
(R):5'- TCAAGGAGGTCATGGATAGACTTTC -3'

Posted On

2017-02-10