Mutagenetix > Incidental Mutation

Incidental Mutation 'R6633:Klk1b27'

525298

Institutional Source

Beutler Lab

Gene Symbol

Klk1b27

Ensembl Gene

ENSMUSG00000063177

Gene Name

kallikrein 1-related peptidase b27

Synonyms

Klk27, mGK-27, Klk21l

MMRRC Submission

044755-MU

Accession Numbers

Essential gene?

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

Stock #

R6633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43701714-43706136 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43705234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 134 (I134F)

Ref Sequence

ENSEMBL: ENSMUSP00000078786 (fasta)

Gene Model

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

AlphaFold

Q9JM71

Predicted Effect

probably damaging
Transcript: ENSMUST00000079859
AA Change: I134F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177
AA Change: I134F

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	C	A	11: 84,402,308 (GRCm39)		probably null	Het
Acot7	C	T	4: 152,262,716 (GRCm39)	P30L	probably benign	Het
Adam24	T	G	8: 41,133,526 (GRCm39)	D331E	probably benign	Het
Adamdec1	T	C	14: 68,810,601 (GRCm39)	D185G	probably benign	Het
Adgrg7	T	C	16: 56,550,649 (GRCm39)	I688V	probably benign	Het
Adgrv1	A	T	13: 81,716,762 (GRCm39)	F779I	probably damaging	Het
Agtr1a	A	G	13: 30,565,450 (GRCm39)	I172V	probably benign	Het
Anapc4	C	T	5: 53,023,288 (GRCm39)	H710Y	possibly damaging	Het
Arf1	T	C	11: 59,103,370 (GRCm39)	N179S	probably benign	Het
Arhgef40	C	T	14: 52,234,888 (GRCm39)	P1064S	probably damaging	Het
Btnl1	A	G	17: 34,604,305 (GRCm39)	N362S	possibly damaging	Het
Ccdc80	T	C	16: 44,915,271 (GRCm39)	F9S	possibly damaging	Het
Ccdc96	G	A	5: 36,642,533 (GRCm39)	E180K	probably benign	Het
Cdh2	A	T	18: 16,773,605 (GRCm39)	N241K	probably benign	Het
Cdk8	C	A	5: 146,235,656 (GRCm39)	S261*	probably null	Het
Csf2rb2	T	C	15: 78,173,152 (GRCm39)	E236G	probably benign	Het
Dgcr8	A	T	16: 18,102,046 (GRCm39)	S79T	possibly damaging	Het
Dnah5	A	T	15: 28,293,933 (GRCm39)	Y1346F	probably benign	Het
Dock6	A	G	9: 21,731,627 (GRCm39)	V1194A	probably benign	Het
Dock6	A	G	9: 21,732,799 (GRCm39)	S1129P	probably damaging	Het
Ephb2	C	G	4: 136,411,307 (GRCm39)	S451T	probably benign	Het
Esco1	T	A	18: 10,595,738 (GRCm39)		probably benign	Het
Fcer1a	C	G	1: 173,054,293 (GRCm39)		probably null	Het
Gbx2	TCCCCC	TCCCCCC	1: 89,856,442 (GRCm39)		probably null	Het
Gm44511	T	A	6: 128,803,205 (GRCm39)	D2V	probably damaging	Het
H2-Q2	A	G	17: 35,561,363 (GRCm39)	T19A	probably damaging	Het
Herc1	G	T	9: 66,346,534 (GRCm39)	E1967*	probably null	Het
Hic1	G	T	11: 75,060,324 (GRCm39)	H8N	unknown	Het
Irx4	G	T	13: 73,416,545 (GRCm39)	A314S	probably benign	Het
Jarid2	C	A	13: 45,038,353 (GRCm39)	H84N	probably damaging	Het
Kprp	T	C	3: 92,732,600 (GRCm39)	Y150C	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp10	T	C	14: 54,706,531 (GRCm39)	V489A	probably benign	Het
Mrgpra6	A	G	7: 46,838,493 (GRCm39)	I235T	possibly damaging	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Naip1	C	T	13: 100,559,593 (GRCm39)	R1137Q	probably benign	Het
Or4c12	T	C	2: 89,773,710 (GRCm39)	I250V	probably benign	Het
Plcl2	A	G	17: 50,947,168 (GRCm39)	I1016V	probably benign	Het
Plekhb1	A	G	7: 100,294,846 (GRCm39)	Y122H	probably damaging	Het
Polr2a	A	G	11: 69,626,339 (GRCm39)	S1604P	possibly damaging	Het
Ppp6r2	G	A	15: 89,137,458 (GRCm39)		probably null	Het
Rag1	T	A	2: 101,473,055 (GRCm39)	R696W	probably damaging	Het
Rusc2	T	C	4: 43,414,852 (GRCm39)	F53L	probably damaging	Het
Rxylt1	G	A	10: 121,932,958 (GRCm39)	R7W	probably damaging	Het
Tango6	T	C	8: 107,444,637 (GRCm39)	V514A	probably benign	Het
Tex30	A	C	1: 44,127,084 (GRCm39)	H64Q	probably benign	Het
Tmbim7	A	G	5: 3,707,659 (GRCm39)		probably null	Het
Tpcn1	A	G	5: 120,682,529 (GRCm39)	M493T	probably benign	Het
Tpx2	T	G	2: 152,709,274 (GRCm39)	F35V	probably damaging	Het
Vmn1r3	G	A	4: 3,184,971 (GRCm39)	T112I	probably benign	Het
Wnt2b	T	C	3: 104,858,372 (GRCm39)	Y299C	probably damaging	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
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
R8002:Klk1b27	UTSW	7	43,705,445 (GRCm39)	missense	probably benign	0.01
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'- CAGCATAATGTTTGGCTGGG -3'
(R):5'- GCAGGAGCTTGATGAACACAC -3'

Sequencing Primer
(F):5'- TTGGCTGGGCAAAAACAAGCTATTC -3'
(R):5'- CACACACTGAAGATCATTTGGG -3'

Posted On

2018-06-22