Mutagenetix > Incidental Mutation

Incidental Mutation 'R8002:Klk1b27'

616408

Institutional Source

Beutler Lab

Gene Symbol

Klk1b27

Ensembl Gene

ENSMUSG00000063177

Gene Name

kallikrein 1-related peptidase b27

Synonyms

Klk27, mGK-27, Klk21l

MMRRC Submission

046042-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43701714-43706136 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43705445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 172 (D172E)

Ref Sequence

ENSEMBL: ENSMUSP00000078786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079859]

AlphaFold

Q9JM71

Predicted Effect

probably benign
Transcript: ENSMUST00000079859
AA Change: D172E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177
AA Change: D172E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	255	1.87e-97	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	C	T	7: 119,172,480 (GRCm39)	R133C	possibly damaging	Het
Adgrf4	T	C	17: 42,978,683 (GRCm39)	E220G	probably benign	Het
Alx3	T	A	3: 107,508,055 (GRCm39)	L188*	probably null	Het
Arhgef2	A	T	3: 88,554,117 (GRCm39)	I969F	probably damaging	Het
Atf6	A	G	1: 170,646,823 (GRCm39)	V350A	probably benign	Het
Atp1a3	C	A	7: 24,700,096 (GRCm39)	G88V	probably damaging	Het
Brd8	T	C	18: 34,741,609 (GRCm39)	T360A	probably benign	Het
Casp1	C	A	9: 5,303,164 (GRCm39)	T206K	possibly damaging	Het
Ccdc150	A	G	1: 54,311,656 (GRCm39)	E214G	probably damaging	Het
Ccdc81	T	C	7: 89,525,343 (GRCm39)	E477G	probably benign	Het
Celsr2	G	T	3: 108,311,285 (GRCm39)	R1409S	probably damaging	Het
Chd6	T	C	2: 160,832,241 (GRCm39)	D977G	probably damaging	Het
Cpne3	A	T	4: 19,528,232 (GRCm39)	F342I	probably damaging	Het
Crot	A	C	5: 9,043,599 (GRCm39)	S8A	probably benign	Het
Cyp11b2	T	C	15: 74,727,881 (GRCm39)	H67R	probably damaging	Het
Dnah1	A	T	14: 31,020,679 (GRCm39)	L1230H	probably damaging	Het
Dqx1	G	A	6: 83,035,558 (GRCm39)	D24N	probably damaging	Het
Gabrg3	T	C	7: 56,384,716 (GRCm39)	T282A	possibly damaging	Het
Gm13199	A	G	2: 5,867,458 (GRCm39)	S13P	unknown	Het
Gnptab	A	T	10: 88,276,130 (GRCm39)	D1139V	probably benign	Het
Hdac1-ps	T	C	17: 78,799,716 (GRCm39)	S236P	probably damaging	Het
Jtb	T	C	3: 90,141,251 (GRCm39)	S76P	probably benign	Het
Lpcat4	G	A	2: 112,074,699 (GRCm39)	V307I	probably benign	Het
Ltn1	A	C	16: 87,212,835 (GRCm39)	S575R	probably benign	Het
Map3k13	A	G	16: 21,723,878 (GRCm39)	T287A	probably benign	Het
Marco	T	G	1: 120,422,509 (GRCm39)	I58L	probably benign	Het
Nadk	G	T	4: 155,661,655 (GRCm39)		probably null	Het
Or11h7	A	T	14: 50,891,314 (GRCm39)	I207F	probably damaging	Het
Otof	G	A	5: 30,537,954 (GRCm39)	T1215I	probably benign	Het
Pigw	A	T	11: 84,769,249 (GRCm39)	C27S	probably benign	Het
Pla2g10	A	T	16: 13,542,912 (GRCm39)	M125K	unknown	Het
Rfx4	A	C	10: 84,676,721 (GRCm39)	M204L	probably damaging	Het
Septin1	T	C	7: 126,815,074 (GRCm39)	D209G	probably damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc26a4	T	C	12: 31,597,969 (GRCm39)	D159G	probably benign	Het
Sptbn4	C	A	7: 27,117,417 (GRCm39)	S444I	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Stard6	T	A	18: 70,633,597 (GRCm39)	D201E	possibly damaging	Het
Tas2r114	T	C	6: 131,666,102 (GRCm39)	T309A	probably damaging	Het
Tdrd6	C	A	17: 43,940,710 (GRCm39)	A113S	probably damaging	Het
Tigd2	T	G	6: 59,187,494 (GRCm39)	N120K	probably damaging	Het
Tomm70a	A	G	16: 56,957,097 (GRCm39)	N224S	probably damaging	Het
Tspo	T	C	15: 83,455,640 (GRCm39)	V9A	probably benign	Het
Vmn1r21	T	A	6: 57,821,199 (GRCm39)	I82L	probably benign	Het
Vmn2r103	T	A	17: 20,019,511 (GRCm39)	C532S	probably damaging	Het
Vmn2r76	T	C	7: 85,879,271 (GRCm39)	N343S	probably benign	Het
Wdr62	T	C	7: 29,951,785 (GRCm39)	K665E	probably damaging	Het
Xpc	T	A	6: 91,469,287 (GRCm39)	N820I	probably damaging	Het
Zfp418	A	G	7: 7,184,873 (GRCm39)	T279A	probably benign	Het

Other mutations in Klk1b27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Klk1b27	APN	7	43,705,567 (GRCm39)	critical splice donor site	probably null
IGL01328:Klk1b27	APN	7	43,705,303 (GRCm39)	missense	probably damaging	1.00
IGL01552:Klk1b27	APN	7	43,704,039 (GRCm39)	missense	probably damaging	1.00
IGL01632:Klk1b27	APN	7	43,706,097 (GRCm39)	utr 3 prime	probably benign
R0574:Klk1b27	UTSW	7	43,705,525 (GRCm39)	missense	probably damaging	1.00
R4723:Klk1b27	UTSW	7	43,705,956 (GRCm39)	missense	probably damaging	1.00
R5800:Klk1b27	UTSW	7	43,705,088 (GRCm39)	missense	probably benign	0.21
R6002:Klk1b27	UTSW	7	43,705,114 (GRCm39)	missense	probably benign
R6244:Klk1b27	UTSW	7	43,703,974 (GRCm39)	missense	probably benign	0.05
R6513:Klk1b27	UTSW	7	43,705,169 (GRCm39)	missense	probably benign	0.00
R6584:Klk1b27	UTSW	7	43,703,935 (GRCm39)	missense	possibly damaging	0.84
R6633:Klk1b27	UTSW	7	43,705,234 (GRCm39)	missense	probably damaging	0.98
R7074:Klk1b27	UTSW	7	43,705,977 (GRCm39)	missense	probably damaging	1.00
R7495:Klk1b27	UTSW	7	43,705,500 (GRCm39)	missense	probably benign
R7830:Klk1b27	UTSW	7	43,705,150 (GRCm39)	missense	probably benign	0.00
R8969:Klk1b27	UTSW	7	43,703,932 (GRCm39)	missense	probably damaging	0.99
R8994:Klk1b27	UTSW	7	43,705,136 (GRCm39)	missense	probably damaging	1.00
R9020:Klk1b27	UTSW	7	43,705,118 (GRCm39)	missense	probably damaging	1.00
R9104:Klk1b27	UTSW	7	43,705,310 (GRCm39)	nonsense	probably null
X0024:Klk1b27	UTSW	7	43,706,017 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CAAGCCTGCTGACATCACAG -3'
(R):5'- CCAGAACCACAGTTTTCTCAGC -3'

Sequencing Primer
(F):5'- TGCTGACATCACAGATGCTG -3'
(R):5'- CCCTTCACCTCATTGTAGAAAGGGG -3'

Posted On

2020-01-23