Mutagenetix > Incidental Mutation

Incidental Mutation 'R6941:Klk1b8'

540541

Institutional Source

Beutler Lab

Gene Symbol

Klk1b8

Ensembl Gene

ENSMUSG00000063089

Gene Name

kallikrein 1-related peptidase b8

Synonyms

mGK-8, Klk8, TADG14

MMRRC Submission

045055-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6941 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43600088-43604365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43602213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 48 (H48Q)

Ref Sequence

ENSEMBL: ENSMUSP00000072063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072204]

AlphaFold

P07628

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072204
AA Change: H48Q

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072063
Gene: ENSMUSG00000063089
AA Change: H48Q

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	1.03e-85	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,140,370 (GRCm39)	I1557F	probably damaging	Het
Acad10	A	T	5: 121,787,420 (GRCm39)	D176E	probably damaging	Het
Acta2	A	T	19: 34,229,922 (GRCm39)	V11E	probably damaging	Het
Ampd2	T	C	3: 107,986,609 (GRCm39)	H225R	probably damaging	Het
Arfgef3	A	G	10: 18,501,203 (GRCm39)	Y1016H	possibly damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU018091	A	G	7: 3,209,267 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,819,469 (GRCm39)	V481A	probably benign	Het
Cabp1	A	T	5: 115,310,960 (GRCm39)	D295E	probably damaging	Het
Cd180	A	T	13: 102,842,699 (GRCm39)	T582S	probably benign	Het
Cnksr3	A	G	10: 7,076,758 (GRCm39)	S145P	probably damaging	Het
Ddx27	A	G	2: 166,857,297 (GRCm39)	D15G	possibly damaging	Het
Dsc1	T	C	18: 20,230,246 (GRCm39)	Y353C	probably benign	Het
Dsg1c	C	T	18: 20,400,980 (GRCm39)	T161I	probably damaging	Het
Epm2a	A	G	10: 11,266,829 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,152,914 (GRCm39)	H3766R	probably benign	Het
Fjx1	A	G	2: 102,280,903 (GRCm39)	V344A	probably benign	Het
Frmd3	A	G	4: 74,016,363 (GRCm39)	I93V	probably benign	Het
Gbe1	TAGTAAGAGT	TAGT	16: 70,230,444 (GRCm39)		probably benign	Het
Gdf15	A	G	8: 71,082,794 (GRCm39)	L104P	possibly damaging	Het
Glra3	G	A	8: 56,393,961 (GRCm39)	R24Q	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ipmk	G	A	10: 71,183,920 (GRCm39)	G47S	probably null	Het
Itsn2	T	C	12: 4,679,641 (GRCm39)	I150T	probably benign	Het
Kcnq5	T	C	1: 21,476,068 (GRCm39)	Y545C	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc34	T	C	3: 30,678,969 (GRCm39)	Y376C	probably benign	Het
Mast4	A	T	13: 102,941,222 (GRCm39)	D278E	probably damaging	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Ndst4	T	G	3: 125,403,160 (GRCm39)	H422Q	possibly damaging	Het
Nek7	T	C	1: 138,430,376 (GRCm39)	E206G	probably damaging	Het
Nufip2	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 77,577,122 (GRCm39)		probably benign	Het
Or5b99	T	A	19: 12,976,861 (GRCm39)	N170K	possibly damaging	Het
Pglyrp2	T	C	17: 32,635,048 (GRCm39)	Y438C	probably damaging	Het
Pigr	G	T	1: 130,775,064 (GRCm39)	W497L	probably damaging	Het
Pkd2l2	G	T	18: 34,549,936 (GRCm39)	V194L	probably benign	Het
Ppp1r16b	A	T	2: 158,538,068 (GRCm39)	K5M	probably damaging	Het
Psat1	A	T	19: 15,898,307 (GRCm39)	S35R	probably damaging	Het
Qrfprl	G	A	6: 65,424,385 (GRCm39)	M126I	probably damaging	Het
Rab11fip1	G	A	8: 27,646,303 (GRCm39)	Q258*	probably null	Het
Rad51d	A	G	11: 82,780,623 (GRCm39)	L53P	probably damaging	Het
Rell2	G	A	18: 38,091,341 (GRCm39)	A169T	probably benign	Het
Rnf19b	T	C	4: 128,976,572 (GRCm39)	I545T	probably benign	Het
Slc12a1	G	T	2: 125,055,999 (GRCm39)	E843D	possibly damaging	Het
Slc1a4	A	G	11: 20,254,346 (GRCm39)	S507P	probably damaging	Het
Slc6a1	G	A	6: 114,290,473 (GRCm39)	W316*	probably null	Het
Spesp1	A	G	9: 62,180,152 (GRCm39)	L252P	probably damaging	Het
Sphkap	G	A	1: 83,385,811 (GRCm39)		probably benign	Het
Srcap	A	G	7: 127,141,769 (GRCm39)	T1850A	probably damaging	Het
Supv3l1	T	C	10: 62,266,365 (GRCm39)	T604A	possibly damaging	Het
Tacr1	A	G	6: 82,380,846 (GRCm39)	T86A	possibly damaging	Het
Tenm3	T	C	8: 49,127,451 (GRCm39)	R76G	probably damaging	Het
Tmprss6	C	A	15: 78,330,977 (GRCm39)	A419S	probably damaging	Het
Usp54	T	G	14: 20,612,177 (GRCm39)	I880L	probably benign	Het
Wwp2	T	A	8: 108,275,134 (GRCm39)	V377D	probably damaging	Het
Zfp735	A	T	11: 73,581,159 (GRCm39)	E65D	probably benign	Het
Zfy2	T	C	Y: 2,121,491 (GRCm39)	E134G	probably benign	Het

Other mutations in Klk1b8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Klk1b8	APN	7	43,604,210 (GRCm39)	missense	probably benign	0.40
IGL01076:Klk1b8	APN	7	43,604,279 (GRCm39)	missense	probably damaging	1.00
IGL01486:Klk1b8	APN	7	43,453,113 (GRCm39)	missense	probably benign	0.14
IGL01685:Klk1b8	APN	7	43,604,294 (GRCm39)	missense	possibly damaging	0.88
IGL01771:Klk1b8	APN	7	43,604,290 (GRCm39)	missense	probably damaging	0.99
IGL02272:Klk1b8	APN	7	43,602,217 (GRCm39)	missense	probably damaging	1.00
IGL02596:Klk1b8	APN	7	43,602,187 (GRCm39)	missense	probably damaging	1.00
R0783:Klk1b8	UTSW	7	43,451,621 (GRCm39)	missense	probably damaging	1.00
R0789:Klk1b8	UTSW	7	43,595,151 (GRCm39)	unclassified	probably benign
R1005:Klk1b8	UTSW	7	43,603,758 (GRCm39)	nonsense	probably null
R1628:Klk1b8	UTSW	7	43,603,565 (GRCm39)	splice site	probably null
R1688:Klk1b8	UTSW	7	43,595,229 (GRCm39)	unclassified	probably benign
R1733:Klk1b8	UTSW	7	43,451,545 (GRCm39)	missense	possibly damaging	0.94
R1954:Klk1b8	UTSW	7	43,603,272 (GRCm39)	splice site	probably benign
R2020:Klk1b8	UTSW	7	43,448,640 (GRCm39)	missense	probably benign
R4036:Klk1b8	UTSW	7	43,447,511 (GRCm39)	missense	probably null	0.00
R4344:Klk1b8	UTSW	7	43,595,186 (GRCm39)	unclassified	probably benign
R5648:Klk1b8	UTSW	7	43,448,068 (GRCm39)	missense	possibly damaging	0.95
R6237:Klk1b8	UTSW	7	43,448,094 (GRCm39)	nonsense	probably null
R6294:Klk1b8	UTSW	7	43,602,196 (GRCm39)	missense	probably damaging	1.00
R7609:Klk1b8	UTSW	7	43,451,603 (GRCm39)	missense	probably damaging	1.00
R7871:Klk1b8	UTSW	7	43,448,750 (GRCm39)	splice site	probably null
R8925:Klk1b8	UTSW	7	43,604,206 (GRCm39)	missense	probably damaging	1.00
R8927:Klk1b8	UTSW	7	43,604,206 (GRCm39)	missense	probably damaging	1.00
R9184:Klk1b8	UTSW	7	43,602,158 (GRCm39)	missense	probably benign	0.03
R9401:Klk1b8	UTSW	7	43,603,674 (GRCm39)	missense	probably benign	0.01
R9456:Klk1b8	UTSW	7	43,453,177 (GRCm39)	missense	probably benign	0.00
R9505:Klk1b8	UTSW	7	43,451,605 (GRCm39)	missense	probably damaging	1.00
Z1176:Klk1b8	UTSW	7	43,453,149 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- CTATCCAGGACCAGCCATATATG -3'
(R):5'- AGACTTTCAGCCAGTTCCAC -3'

Sequencing Primer
(F):5'- AGATCCCCTGGCCATGTC -3'
(R):5'- AGCCAGTTCCACTCCACTG -3'

Posted On

2018-11-06