Mutagenetix > Incidental Mutation

Incidental Mutation 'R6237:Klk1b8'

504994

Institutional Source

Beutler Lab

Gene Symbol

Klk1b8

Ensembl Gene

ENSMUSG00000063089

Gene Name

kallikrein 1-related peptidase b8

Synonyms

mGK-8, Klk8, TADG14

MMRRC Submission

044362-MU

Accession Numbers

Essential gene?

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

Stock #

R6237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43600088-43604365 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 43448094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 39 (C39*)

Ref Sequence

ENSEMBL: ENSMUSP00000145580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005891] [ENSMUST00000085461] [ENSMUST00000205537]

AlphaFold

P07628

Predicted Effect

probably benign
Transcript: ENSMUST00000005891

SMART Domains

Protein: ENSMUSP00000005891
Gene: ENSMUSG00000047884

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Tryp_SPc	22	244	1.66e-89	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000085461
AA Change: C39*

SMART Domains

Protein: ENSMUSP00000082588
Gene: ENSMUSG00000064023
AA Change: C39*

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

probably null
Transcript: ENSMUST00000205537
AA Change: C39*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206465

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	G	A	8: 120,342,502 (GRCm39)	R380H	probably damaging	Het
Akr1c12	C	A	13: 4,325,767 (GRCm39)	D109Y	possibly damaging	Het
Cacna1s	A	T	1: 136,033,582 (GRCm39)	M1020L	possibly damaging	Het
Cbx8	C	A	11: 118,931,213 (GRCm39)	R25L	possibly damaging	Het
Ccdc87	A	G	19: 4,891,407 (GRCm39)	Y633C	probably benign	Het
Col4a4	C	T	1: 82,484,752 (GRCm39)	S505N	unknown	Het
Cr2	T	A	1: 194,839,810 (GRCm39)	H539L	probably damaging	Het
Cyp2b9	T	A	7: 25,872,999 (GRCm39)	D47E	probably benign	Het
Dnah3	A	C	7: 119,608,607 (GRCm39)	M1784R	probably damaging	Het
Dnah8	T	A	17: 30,966,828 (GRCm39)	L2520*	probably null	Het
E2f2	A	G	4: 135,905,796 (GRCm39)	E103G	possibly damaging	Het
Eef1akmt3	T	A	10: 126,868,877 (GRCm39)	H199L	possibly damaging	Het
Faxc	A	T	4: 21,993,376 (GRCm39)	N340I	possibly damaging	Het
Fer1l6	A	T	15: 58,497,026 (GRCm39)	R1199*	probably null	Het
Fer1l6	A	G	15: 58,509,855 (GRCm39)	D1439G	probably damaging	Het
Galnt5	G	T	2: 57,925,261 (GRCm39)	W847C	probably damaging	Het
Gbp2	G	A	3: 142,337,793 (GRCm39)	S303N	probably benign	Het
Glipr1l1	A	T	10: 111,896,332 (GRCm39)	K40*	probably null	Het
Gm4353	A	C	7: 115,683,134 (GRCm39)	L149R	possibly damaging	Het
Grk5	A	G	19: 61,078,380 (GRCm39)	D479G	probably damaging	Het
Gzmc	T	A	14: 56,471,486 (GRCm39)		probably null	Het
Hace1	T	C	10: 45,524,986 (GRCm39)	Y251H	probably benign	Het
Hhla1	G	T	15: 65,813,646 (GRCm39)	P229T	probably damaging	Het
Hspa1l	C	T	17: 35,196,428 (GRCm39)	Q156*	probably null	Het
Igkv4-78	A	T	6: 69,036,683 (GRCm39)	Y117N	probably benign	Het
Ikzf3	C	A	11: 98,357,879 (GRCm39)	R486L	probably damaging	Het
Itpr1	C	T	6: 108,355,164 (GRCm39)	T485M	possibly damaging	Het
Kcnab3	T	C	11: 69,219,401 (GRCm39)	Y131H	probably benign	Het
Kcnu1	C	T	8: 26,422,362 (GRCm39)	P209L	probably benign	Het
Mbtps1	A	G	8: 120,255,700 (GRCm39)	L519P	probably damaging	Het
Mgat4a	A	G	1: 37,495,673 (GRCm39)	I287T	probably damaging	Het
Mindy2	T	C	9: 70,512,480 (GRCm39)	E590G	possibly damaging	Het
Mllt11	G	T	3: 95,127,602 (GRCm39)	T56K	probably benign	Het
Myo5b	G	A	18: 74,875,249 (GRCm39)	R1551H	probably damaging	Het
Nmrk2	T	C	10: 81,036,796 (GRCm39)	T16A	possibly damaging	Het
Or2ab1	T	A	11: 58,488,831 (GRCm39)	F203Y	probably damaging	Het
Or7e170	G	T	9: 19,795,365 (GRCm39)	P79T	probably damaging	Het
Osbpl9	T	C	4: 109,013,899 (GRCm39)	D65G	probably damaging	Het
Phf2	T	A	13: 48,957,131 (GRCm39)	K1079*	probably null	Het
Plcb1	A	G	2: 135,212,486 (GRCm39)	S1026G	possibly damaging	Het
Pnrc2	A	T	4: 135,599,397 (GRCm39)	H117Q	probably benign	Het
Ppfia2	A	T	10: 106,749,455 (GRCm39)	I1114F	probably damaging	Het
Rpl12	G	A	2: 32,853,000 (GRCm39)	E72K	probably benign	Het
Sbf1	C	T	15: 89,177,679 (GRCm39)	R1642H	probably benign	Het
Sephs2	G	A	7: 126,873,118 (GRCm39)		probably benign	Het
Slc35c2	A	T	2: 165,122,617 (GRCm39)	L194H	probably damaging	Het
Slfn4	T	A	11: 83,079,938 (GRCm39)	Y150N	probably damaging	Het
Srbd1	T	C	17: 86,292,723 (GRCm39)	R949G	probably damaging	Het
Urah	T	A	7: 140,415,618 (GRCm39)	S28T	probably damaging	Het
Wdr62	A	G	7: 29,941,860 (GRCm39)	S649P	probably damaging	Het
Wnk1	C	A	6: 119,929,728 (GRCm39)	G1263V	probably damaging	Het
Zbtb4	C	A	11: 69,669,069 (GRCm39)	D114E	possibly 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
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
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'- TCAGTGAACTTACATGTGGCC -3'
(R):5'- TCCTCAAACAGAGCCCTGAG -3'

Sequencing Primer
(F):5'- GCCATGTTCCAATGGATGC -3'
(R):5'- ACAGAGCCCTGAGCCTCTTC -3'

Posted On

2018-02-28