Mutagenetix > Incidental Mutation

Incidental Mutation 'R9456:Klk1b8'

714580

Institutional Source

Beutler Lab

Gene Symbol

Klk1b8

Ensembl Gene

ENSMUSG00000063089

Gene Name

kallikrein 1-related peptidase b8

Synonyms

mGK-8, Klk8, TADG14

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43600088-43604365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43453177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 256 (M256T)

Ref Sequence

ENSEMBL: ENSMUSP00000082588 (fasta)

Gene Model

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

AlphaFold

P07628

PDB Structure

NEUROPSIN, A SERINE PROTEASE EXPRESSED IN THE LIMBIC SYSTEM OF MOUSE BRAIN [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000085461
AA Change: M256T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000082588
Gene: ENSMUSG00000064023
AA Change: M256T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205537

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	C	18: 10,645,121 (GRCm39)	D391G	probably benign	Het
Arhgdia	A	C	11: 120,470,068 (GRCm39)	W202G	probably damaging	Het
Atp2a3	A	T	11: 72,871,131 (GRCm39)	D575V	probably benign	Het
Cep350	C	A	1: 155,744,457 (GRCm39)	V2121L	probably benign	Het
Clcn2	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 20,534,702 (GRCm39)		probably benign	Het
Cldn9	A	T	17: 23,902,556 (GRCm39)	V23E	probably damaging	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Cmbl	A	G	15: 31,589,948 (GRCm39)	D226G	probably damaging	Het
Dennd4b	C	T	3: 90,178,515 (GRCm39)	T537I	probably damaging	Het
Dnah7b	C	A	1: 46,165,953 (GRCm39)	D539E	possibly damaging	Het
Fam219a	T	C	4: 41,521,871 (GRCm39)	T70A	probably damaging	Het
Fat4	T	A	3: 38,942,571 (GRCm39)	V488E	possibly damaging	Het
Gm3336	A	G	8: 71,174,740 (GRCm39)	*96W	probably null	Het
Hectd1	A	G	12: 51,832,584 (GRCm39)	I930T	probably benign	Het
Hmcn1	A	T	1: 150,506,053 (GRCm39)	C3824*	probably null	Het
Ift140	T	C	17: 25,254,758 (GRCm39)	F413L	probably benign	Het
Itfg1	A	G	8: 86,565,566 (GRCm39)	V90A	probably benign	Het
Jph4	A	T	14: 55,351,090 (GRCm39)	W309R	probably damaging	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Klhl5	T	C	5: 65,305,939 (GRCm39)	F302S	probably damaging	Het
Klre1	A	T	6: 129,559,368 (GRCm39)	R99S	probably benign	Het
Krt79	T	C	15: 101,839,904 (GRCm39)	T364A	probably benign	Het
Lin7a	C	T	10: 107,218,483 (GRCm39)	P131L	possibly damaging	Het
Lrrc49	A	G	9: 60,594,699 (GRCm39)	Y9H	probably benign	Het
Lrrc8a	T	A	2: 30,145,663 (GRCm39)	I159N	probably damaging	Het
Mdga2	T	C	12: 66,615,532 (GRCm39)	S692G	probably benign	Het
Myo15a	G	A	11: 60,392,668 (GRCm39)	V1017M		Het
Nol4	T	C	18: 23,172,897 (GRCm39)	D68G	probably benign	Het
Or4f53	T	C	2: 111,088,348 (GRCm39)	V296A	probably benign	Het
Or6c75	T	C	10: 129,337,515 (GRCm39)	V254A	probably damaging	Het
Pigw	C	A	11: 84,768,040 (GRCm39)	A430S	probably benign	Het
Pla2g4c	T	C	7: 13,077,900 (GRCm39)	L356P	probably damaging	Het
Prorp	T	C	12: 55,385,015 (GRCm39)	V410A	probably damaging	Het
Prr5	A	G	15: 84,585,682 (GRCm39)	T226A	probably benign	Het
Pygo1	C	T	9: 72,833,056 (GRCm39)		probably benign	Het
Rnf214	A	G	9: 45,779,286 (GRCm39)	I333T	possibly damaging	Het
Septin3	A	G	15: 82,167,352 (GRCm39)	I86V	probably benign	Het
Slc30a3	AGGGCTTACCTGAGCGG	AGG	5: 31,246,889 (GRCm39)		probably null	Het
Socs5	C	A	17: 87,442,266 (GRCm39)	T402K	probably damaging	Het
Speer3	T	A	5: 13,846,368 (GRCm39)	N229K		Het
Stk16	T	C	1: 75,187,804 (GRCm39)		probably benign	Het
Taar7d	T	A	10: 23,903,287 (GRCm39)	F56L	probably benign	Het
Tmprss2	C	T	16: 97,392,669 (GRCm39)	V93I	probably benign	Het
Tnpo2	G	A	8: 85,774,015 (GRCm39)	E350K	probably benign	Het
Tor1aip2	C	T	1: 155,937,525 (GRCm39)	P87S	possibly damaging	Het
Trgv7	A	T	13: 19,362,385 (GRCm39)	R25*	probably null	Het
Ush2a	A	G	1: 188,558,589 (GRCm39)	E3606G	probably benign	Het
Zeb1	C	T	18: 5,766,709 (GRCm39)	Q407*	probably null	Het
Zfp609	A	G	9: 65,611,125 (GRCm39)	S613P		Het
Zfp735	A	G	11: 73,602,403 (GRCm39)	N449S	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
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
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'- GGCATTTTAAGGCAAACACAAC -3'
(R):5'- CAAGCCCTTGGATAGCCATTC -3'

Sequencing Primer
(F):5'- AACTCTGCCTCTGTTCAGGGTG -3'
(R):5'- GCCCTTGGATAGCCATTCAGAAAATG -3'

Posted On

2022-06-15