Mutagenetix > Incidental Mutations

Incidental Mutation 'R7830:Klk1b27'

602372

Institutional Source

Beutler Lab

Gene Symbol

Klk1b27

Ensembl Gene

ENSMUSG00000063177

Gene Name

kallikrein 1-related peptidase b27

Synonyms

mGK-27, Klk27, Klk21l

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7830 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44052290-44056712 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44055726 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 106 (M106L)

Ref Sequence

ENSEMBL: ENSMUSP00000078786 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000079859
AA Change: M106L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177
AA Change: M106L

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	A	G	18: 12,168,871	N24S	probably benign	Het
4932438A13Rik	CCAGATTCATGTAGCA	CCA	3: 36,964,932		probably null	Het
Adat3	T	C	10: 80,606,820	L164P	probably damaging	Het
Aldh16a1	A	T	7: 45,146,225	L388Q	probably damaging	Het
Angpt1	T	C	15: 42,676,268	N65S	probably damaging	Het
Ankrd54	G	A	15: 79,054,050	T287I	probably damaging	Het
Cc2d2b	T	A	19: 40,765,357	V108E	possibly damaging	Het
Cntnap5c	A	T	17: 58,162,250	D609V	probably damaging	Het
Col6a4	G	T	9: 106,075,390	D436E	probably damaging	Het
Cul9	A	T	17: 46,540,311	D394E	probably benign	Het
Cyfip1	A	G	7: 55,873,462	E75G	probably damaging	Het
Efr3a	G	A	15: 65,829,830	V198I	probably benign	Het
Eif2ak2	C	T	17: 78,866,403	G249S	probably damaging	Het
Erich4	A	T	7: 25,615,724	M42K	probably benign	Het
Fig4	A	C	10: 41,256,466	V448G	probably benign	Het
Gas1	T	C	13: 60,176,034	D303G	probably damaging	Het
Gm609	A	T	16: 45,442,554	I187N	probably damaging	Het
Golgb1	T	G	16: 36,898,721	Y330D	possibly damaging	Het
Gpr146	C	T	5: 139,392,602	A53V	probably benign	Het
Lipc	T	C	9: 70,812,901	T190A	probably damaging	Het
Lrrc4b	A	G	7: 44,461,807	I368V	possibly damaging	Het
Mmp10	A	T	9: 7,507,283	Q368L	probably benign	Het
Myo10	T	A	15: 25,737,971	Y501*	probably null	Het
Neb	T	A	2: 52,165,189	H6445L	probably benign	Het
Numa1	T	A	7: 101,999,285	M741K	probably benign	Het
Nxn	T	A	11: 76,273,993	I231F	probably damaging	Het
Olfr1471	T	C	19: 13,445,621	L203S	probably benign	Het
Olfr341	A	G	2: 36,479,380	L250P	probably damaging	Het
Osbp2	A	G	11: 3,863,414	S152P	probably benign	Het
P3h4	T	C	11: 100,414,043	T173A	probably damaging	Het
Pcdh15	C	A	10: 74,385,901	R678S	probably damaging	Het
Pcdhb6	C	A	18: 37,336,312	T762K	probably benign	Het
Pnrc1	G	A	4: 33,248,057	P114L	probably damaging	Het
Ppp3ca	T	A	3: 136,868,720	S126R	probably damaging	Het
Prl3d2	C	T	13: 27,126,017	T155I	probably benign	Het
Prune2	C	A	19: 17,122,674	N1847K	probably benign	Het
Psg21	A	T	7: 18,647,298	V440E	probably damaging	Het
Rag1	A	G	2: 101,642,059	S913P	probably damaging	Het
Ros1	T	A	10: 52,154,934	H525L	probably damaging	Het
Scarb1	T	C	5: 125,287,383	Y94C	probably damaging	Het
Serpinb6a	T	G	13: 33,930,047	D120A	probably benign	Het
Sik3	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	9: 46,212,057		probably benign	Het
Slc39a14	T	C	14: 70,310,117	D299G	probably benign	Het
Sox1	G	A	8: 12,396,955	A199T	probably damaging	Het
Strc	T	A	2: 121,375,049	I867F	probably damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Usf3	C	T	16: 44,219,779	Q1541*	probably null	Het
Wrn	G	A	8: 33,269,054	L716F	probably damaging	Het
Zfp141	G	A	7: 42,475,188	T620I	probably benign	Het
Zfp354b	A	T	11: 50,923,309	I263K	probably benign	Het
Zfp804b	T	A	5: 6,771,124	E646D	probably benign	Het
Zfp970	G	T	2: 177,475,545	C304F	probably damaging	Het

Other mutations in Klk1b27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Klk1b27	APN	7	44056143	critical splice donor site	probably null
IGL01328:Klk1b27	APN	7	44055879	missense	probably damaging	1.00
IGL01552:Klk1b27	APN	7	44054615	missense	probably damaging	1.00
IGL01632:Klk1b27	APN	7	44056673	utr 3 prime	probably benign
R0574:Klk1b27	UTSW	7	44056101	missense	probably damaging	1.00
R4723:Klk1b27	UTSW	7	44056532	missense	probably damaging	1.00
R5800:Klk1b27	UTSW	7	44055664	missense	probably benign	0.21
R6002:Klk1b27	UTSW	7	44055690	missense	probably benign
R6244:Klk1b27	UTSW	7	44054550	missense	probably benign	0.05
R6513:Klk1b27	UTSW	7	44055745	missense	probably benign	0.00
R6584:Klk1b27	UTSW	7	44054511	missense	possibly damaging	0.84
R6633:Klk1b27	UTSW	7	44055810	missense	probably damaging	0.98
R7074:Klk1b27	UTSW	7	44056553	missense	probably damaging	1.00
R7495:Klk1b27	UTSW	7	44056076	missense	probably benign
R8002:Klk1b27	UTSW	7	44056021	missense	probably benign	0.01
X0024:Klk1b27	UTSW	7	44056593	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AAGTTCAGCCCTGTCCTAGC -3'
(R):5'- CCACACCAAGCTGTATCCTTG -3'

Sequencing Primer
(F):5'- TGAGCAGCTCTCAGGCCTTC -3'
(R):5'- GCTGTATCCTTGGAGAAGACTCAC -3'

Posted On

2019-12-03