Mutagenetix > Incidental Mutation

Incidental Mutation 'R1733:Klk1b8'

199483

Institutional Source

Beutler Lab

Gene Symbol

Klk1b8

Ensembl Gene

ENSMUSG00000063089

Gene Name

kallikrein 1-related peptidase b8

Synonyms

mGK-8, Klk8, TADG14

MMRRC Submission

039765-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1733 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43600088-43604365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43451545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 179 (Y179H)

Ref Sequence

ENSEMBL: ENSMUSP00000145580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085461] [ENSMUST00000205537]

AlphaFold

P07628

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085461
AA Change: Y179H

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082588
Gene: ENSMUSG00000064023
AA Change: Y179H

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	32	252	8.87e-99	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205527

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205537
AA Change: Y179H

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206465

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (95/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	G	18: 59,165,001 (GRCm39)	C1034W	probably damaging	Het
Agbl2	G	T	2: 90,641,089 (GRCm39)	K737N	probably damaging	Het
Aqp9	T	A	9: 71,019,624 (GRCm39)	I279F	possibly damaging	Het
Aspm	T	A	1: 139,384,855 (GRCm39)	N166K	probably benign	Het
Atp13a3	A	T	16: 30,176,084 (GRCm39)	I186N	probably benign	Het
Btaf1	A	T	19: 36,972,362 (GRCm39)	I1366L	probably benign	Het
Camk4	A	C	18: 33,211,074 (GRCm39)	K60Q	possibly damaging	Het
Card11	G	T	5: 140,892,388 (GRCm39)	Q226K	possibly damaging	Het
Ccdc187	T	C	2: 26,183,670 (GRCm39)	D110G	possibly damaging	Het
Col5a2	C	T	1: 45,446,192 (GRCm39)	R462Q	possibly damaging	Het
Cp	A	T	3: 20,022,383 (GRCm39)		probably benign	Het
Cpz	A	T	5: 35,675,102 (GRCm39)	V38E	probably damaging	Het
Cxcr6	G	A	9: 123,639,181 (GRCm39)	V68I	probably damaging	Het
Cyp2a22	C	A	7: 26,634,187 (GRCm39)	E322D	possibly damaging	Het
D130052B06Rik	C	T	11: 33,573,784 (GRCm39)	T127I	probably benign	Het
Daam2	T	A	17: 49,797,231 (GRCm39)	M185L	possibly damaging	Het
Dnaja3	G	A	16: 4,502,029 (GRCm39)	R11K	probably null	Het
Dnttip2	T	A	3: 122,070,397 (GRCm39)	S537R	probably benign	Het
Dock9	G	T	14: 121,864,292 (GRCm39)	H572Q	probably benign	Het
Dpp4	T	A	2: 62,203,213 (GRCm39)		probably null	Het
Enc1	T	G	13: 97,381,550 (GRCm39)	I20S	possibly damaging	Het
Ephb6	T	A	6: 41,596,654 (GRCm39)	H900Q	probably benign	Het
Ercc3	T	C	18: 32,400,218 (GRCm39)	V690A	possibly damaging	Het
Fam90a1a	C	T	8: 22,453,385 (GRCm39)	Q247*	probably null	Het
Fkbp10	G	A	11: 100,314,757 (GRCm39)	R423H	probably benign	Het
Fus	A	G	7: 127,580,717 (GRCm39)	M265V	probably benign	Het
Gas2l3	T	A	10: 89,250,127 (GRCm39)	K330N	probably damaging	Het
Gpam	T	G	19: 55,069,901 (GRCm39)	L410F	probably damaging	Het
Gpr37l1	A	T	1: 135,089,273 (GRCm39)	V264E	possibly damaging	Het
Grk6	A	T	13: 55,600,979 (GRCm39)		probably benign	Het
Gsto1	G	T	19: 47,843,674 (GRCm39)	V19F	probably damaging	Het
H1f7	G	T	15: 98,154,016 (GRCm39)	Q378K	unknown	Het
Hgfac	G	A	5: 35,201,018 (GRCm39)	C194Y	probably damaging	Het
Hivep1	A	G	13: 42,311,407 (GRCm39)	N1216D	probably damaging	Het
Hrg	C	T	16: 22,769,997 (GRCm39)	A42V	probably damaging	Het
Irx4	A	G	13: 73,414,824 (GRCm39)	D136G	probably benign	Het
Kcnn3	G	T	3: 89,559,397 (GRCm39)	V556L	probably benign	Het
Klrb1f	T	A	6: 129,031,322 (GRCm39)	L173*	probably null	Het
Kremen2	A	T	17: 23,962,373 (GRCm39)		probably null	Het
Krt25	A	T	11: 99,207,378 (GRCm39)	Y400*	probably null	Het
Lingo4	A	T	3: 94,310,485 (GRCm39)	R474S	probably benign	Het
Lnpep	T	C	17: 17,773,575 (GRCm39)	K599E	probably benign	Het
Mapk8ip3	A	T	17: 25,155,824 (GRCm39)	M2K	possibly damaging	Het
Mat2b	A	T	11: 40,570,904 (GRCm39)	S307T	probably benign	Het
Mcph1	C	A	8: 18,681,979 (GRCm39)	A372D	probably benign	Het
Mfsd6	T	A	1: 52,748,524 (GRCm39)	I114F	probably damaging	Het
Mlkl	A	G	8: 112,049,380 (GRCm39)	S248P	probably damaging	Het
Mmrn1	A	T	6: 60,954,085 (GRCm39)	T789S	probably benign	Het
Mphosph8	A	G	14: 56,930,916 (GRCm39)	Y735C	probably damaging	Het
Mrc1	T	A	2: 14,261,910 (GRCm39)	Y300N	probably damaging	Het
Mrps11	A	G	7: 78,442,460 (GRCm39)	H180R	probably damaging	Het
Msh4	T	C	3: 153,573,404 (GRCm39)	D556G	probably damaging	Het
Myh10	C	A	11: 68,693,122 (GRCm39)	D1472E	probably benign	Het
Myo16	T	C	8: 10,492,283 (GRCm39)	S742P	probably damaging	Het
Nlrp5-ps	C	T	7: 14,316,978 (GRCm39)		noncoding transcript	Het
Nrp1	C	T	8: 129,194,974 (GRCm39)	P477S	probably benign	Het
Oplah	G	T	15: 76,186,683 (GRCm39)	C665*	probably null	Het
Or4f14b	T	A	2: 111,775,625 (GRCm39)	M59L	probably benign	Het
Or4f54	T	C	2: 111,123,210 (GRCm39)	V199A	probably damaging	Het
Or51b17	T	C	7: 103,542,118 (GRCm39)	S275G	probably benign	Het
Or8g22	G	T	9: 38,958,678 (GRCm39)	H57N	unknown	Het
Otogl	T	C	10: 107,619,573 (GRCm39)	T1696A	possibly damaging	Het
Pdzrn4	A	G	15: 92,299,855 (GRCm39)	I242V	probably benign	Het
Phgdh	G	A	3: 98,235,451 (GRCm39)	T141I	probably benign	Het
Pigv	T	C	4: 133,392,237 (GRCm39)	Y311C	probably damaging	Het
Pik3c2a	T	G	7: 116,017,755 (GRCm39)	M1L	possibly damaging	Het
Pitpnm1	A	T	19: 4,159,960 (GRCm39)	K760*	probably null	Het
Pnrc1	G	A	4: 33,246,438 (GRCm39)	H174Y	probably damaging	Het
Ptgis	A	G	2: 167,033,888 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,643,773 (GRCm39)		probably null	Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Sacs	T	G	14: 61,442,903 (GRCm39)	F1650V	probably damaging	Het
Sbno2	T	A	10: 79,894,342 (GRCm39)	N1081Y	possibly damaging	Het
Sema5b	C	T	16: 35,466,737 (GRCm39)	P213L	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint6	T	A	4: 113,034,234 (GRCm39)		probably benign	Het
Slc4a2	A	G	5: 24,634,565 (GRCm39)	E68G	probably damaging	Het
Srcin1	C	T	11: 97,424,327 (GRCm39)	V634I	probably benign	Het
Srsf10	T	A	4: 135,590,476 (GRCm39)	F134I	possibly damaging	Het
Stab1	C	A	14: 30,867,260 (GRCm39)	G1700V	probably damaging	Het
Sun1	T	G	5: 139,216,544 (GRCm39)	C290W	possibly damaging	Het
Svs6	T	A	2: 164,159,577 (GRCm39)		probably benign	Het
Tmem8b	G	A	4: 43,690,228 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,983,238 (GRCm39)	D81G	probably damaging	Het
Vmn1r215	T	A	13: 23,260,848 (GRCm39)	V296D	probably benign	Het
Vmn1r6	T	A	6: 56,979,607 (GRCm39)	S90T	probably damaging	Het
Wbp2	A	G	11: 115,974,709 (GRCm39)	F42L	probably benign	Het
Wdr20rt	C	T	12: 65,274,055 (GRCm39)	T333I	possibly damaging	Het
Zfp341	C	T	2: 154,483,298 (GRCm39)	A552V	probably benign	Het
Zfp607b	A	T	7: 27,391,949 (GRCm39)	H8L	possibly damaging	Het
Zfp758	G	T	17: 22,594,830 (GRCm39)	D439Y	probably damaging	Het
Zfp946	T	C	17: 22,672,538 (GRCm39)	Y46H	probably damaging	Het
Zic2	G	A	14: 122,716,359 (GRCm39)	E432K	probably damaging	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
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
R6941:Klk1b8	UTSW	7	43,602,213 (GRCm39)	missense	possibly damaging	0.83
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'- GACGTTAAGACTTGAGGGCTCCTG -3'
(R):5'- GTATGCCAACCTCACTCTGTGACC -3'

Sequencing Primer
(F):5'- TGGCTAGACAGAGAAAGATGCAC -3'
(R):5'- GTAGCGAGCTTTCTCTGAACC -3'

Posted On

2014-05-23