Mutagenetix > Incidental Mutation

Incidental Mutation 'R4969:Klkb1'

384274

Institutional Source

Beutler Lab

Gene Symbol

Klkb1

Ensembl Gene

ENSMUSG00000109764

Gene Name

kallikrein B, plasma 1

Synonyms

PSA, Kal3, Klk3, Kal-3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45719725-45747872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45735814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 183 (D183G)

Ref Sequence

ENSEMBL: ENSMUSP00000026907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026907]

AlphaFold

P26262

Predicted Effect

probably benign
Transcript: ENSMUST00000026907
AA Change: D183G

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764
AA Change: D183G

Domain	Start	End	E-Value	Type
APPLE	21	104	1.96e-40	SMART
APPLE	111	194	3.93e-40	SMART
APPLE	201	284	2.65e-37	SMART
APPLE	292	375	1.34e-33	SMART
Tryp_SPc	390	621	2.22e-99	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116473

SMART Domains

Protein: ENSMUSP00000112174
Gene: ENSMUSG00000031640

Domain	Start	End	E-Value	Type
APPLE	21	104	1.96e-40	SMART
APPLE	111	194	3.93e-40	SMART
APPLE	201	284	2.65e-37	SMART
APPLE	292	375	1.34e-33	SMART
Tryp_SPc	390	621	2.22e-99	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

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 processing to generate a disulfide-linked heterodimeric enzyme comprised of heavy and light chains. A complete deletion of the encoded protein prevents occlusive thrombus formation in mice with a minimal role in provoked bleeding. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced hematoma expansion in streptozotocin-induced diabetic mice subjected to autologous blood injection, and prolonged activated partial thromboplastin time. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,754,943 (GRCm39)	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,648,392 (GRCm39)	V476A	probably benign	Het
Aipl1	A	G	11: 71,922,256 (GRCm39)	I151T	probably benign	Het
Apc	C	T	18: 34,445,971 (GRCm39)	R938*	probably null	Het
Atp2a2	A	G	5: 122,596,554 (GRCm39)	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,223,075 (GRCm39)	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,365,900 (GRCm39)	D370G	probably damaging	Het
Cep350	T	C	1: 155,736,025 (GRCm39)	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,386,375 (GRCm39)	V158A	probably damaging	Het
Col6a5	G	A	9: 105,741,806 (GRCm39)	T2371I	probably damaging	Het
Cpne8	T	C	15: 90,503,929 (GRCm39)	T79A	probably damaging	Het
Cyp2b13	A	G	7: 25,780,413 (GRCm39)	R145G	probably damaging	Het
Disc1	G	A	8: 125,851,289 (GRCm39)	W391*	probably null	Het
Dnah8	G	A	17: 30,941,988 (GRCm39)	V1745I	probably damaging	Het
Dsp	T	C	13: 38,376,886 (GRCm39)	V1557A	probably benign	Het
Egfem1	T	A	3: 29,637,145 (GRCm39)	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Esd	T	A	14: 74,982,153 (GRCm39)	S189R	possibly damaging	Het
Fancf	A	T	7: 51,511,196 (GRCm39)	Y269*	probably null	Het
Fbln2	A	T	6: 91,248,569 (GRCm39)	H1078L	possibly damaging	Het
Fbxw13	A	G	9: 109,010,592 (GRCm39)		probably null	Het
Fcgr2b	A	T	1: 170,790,941 (GRCm39)	V284D	probably benign	Het
Fuz	G	A	7: 44,549,718 (GRCm39)	G363R	probably damaging	Het
Gas7	A	G	11: 67,574,234 (GRCm39)	E403G	probably damaging	Het
Gnl1	A	G	17: 36,291,581 (GRCm39)	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,214,445 (GRCm39)	V561A	probably benign	Het
H1f7	A	T	15: 98,154,216 (GRCm39)	V311E	unknown	Het
Hebp2	T	C	10: 18,420,122 (GRCm39)	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,672,377 (GRCm39)	Q80L	probably benign	Het
Kctd19	T	A	8: 106,122,959 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,955,428 (GRCm39)	L905P	probably damaging	Het
Krt6b	T	C	15: 101,588,460 (GRCm39)	R67G	possibly damaging	Het
Krt75	T	C	15: 101,482,248 (GRCm39)	I7V	probably benign	Het
Lpo	A	T	11: 87,697,751 (GRCm39)	N685K	probably benign	Het
Mroh7	A	T	4: 106,538,070 (GRCm39)	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572 (GRCm38)	M1482K	probably benign	Het
Mylk	T	A	16: 34,791,810 (GRCm39)	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,801,913 (GRCm39)	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,725 (GRCm39)	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,420,273 (GRCm39)		probably null	Het
Nxf1	A	G	19: 8,739,669 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or52u1	A	T	7: 104,237,730 (GRCm39)	N240Y	probably damaging	Het
Pde3b	A	G	7: 114,118,847 (GRCm39)	E662G	possibly damaging	Het
Plekhm3	G	A	1: 64,977,078 (GRCm39)	R131C	probably damaging	Het
Plpp7	T	C	2: 31,985,950 (GRCm39)	S43P	probably benign	Het
Pramel5	A	G	4: 143,998,187 (GRCm39)	L352P	probably damaging	Het
Prepl	T	C	17: 85,395,902 (GRCm39)	S27G	probably benign	Het
Ptprd	A	G	4: 76,051,542 (GRCm39)	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,419,854 (GRCm39)	Q6*	probably null	Het
Rgl1	C	T	1: 152,424,813 (GRCm39)		probably null	Het
Riiad1	C	A	3: 94,380,173 (GRCm39)	G41*	probably null	Het
Rnf214	C	T	9: 45,807,486 (GRCm39)	R239H	probably damaging	Het
Rpap3	C	T	15: 97,584,407 (GRCm39)	V346I	probably benign	Het
Scaf4	G	A	16: 90,048,831 (GRCm39)	Q328*	probably null	Het
Sec23a	A	G	12: 59,051,274 (GRCm39)		probably null	Het
Slc5a8	T	A	10: 88,740,774 (GRCm39)		probably null	Het
Slc9a8	A	G	2: 167,288,449 (GRCm39)	T183A	probably benign	Het
Sod3	A	T	5: 52,525,736 (GRCm39)	H145L	probably damaging	Het
Sp4	A	G	12: 118,263,341 (GRCm39)	V235A	probably damaging	Het
Spp1	A	C	5: 104,588,153 (GRCm39)	E185A	possibly damaging	Het
Susd1	A	T	4: 59,351,679 (GRCm39)	W461R	probably benign	Het
Svil	A	C	18: 5,095,516 (GRCm39)	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,186,720 (GRCm39)		probably null	Het
Terb1	A	T	8: 105,221,795 (GRCm39)	N168K	probably benign	Het
Tnnt1	A	G	7: 4,510,573 (GRCm39)	L216P	probably damaging	Het
Ttc28	A	G	5: 111,424,121 (GRCm39)	K1463E	probably damaging	Het
Twf2	T	G	9: 106,089,098 (GRCm39)		probably null	Het
Urb1	C	T	16: 90,602,299 (GRCm39)	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,219,650 (GRCm39)	C299*	probably null	Het
Wrap73	A	G	4: 154,237,138 (GRCm39)	S54G	probably damaging	Het
Zeb2	T	C	2: 44,888,931 (GRCm39)	K323R	probably damaging	Het
Zfp410	T	C	12: 84,378,582 (GRCm39)	I302T	possibly damaging	Het

Other mutations in Klkb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Klkb1	APN	8	45,747,105 (GRCm39)	splice site	probably benign
IGL01756:Klkb1	APN	8	45,725,361 (GRCm39)	missense	probably damaging	0.99
IGL01783:Klkb1	APN	8	45,729,428 (GRCm39)	missense	probably damaging	1.00
IGL01809:Klkb1	APN	8	45,729,090 (GRCm39)	missense	probably benign	0.00
IGL02128:Klkb1	APN	8	45,740,068 (GRCm39)	missense	probably damaging	1.00
IGL02512:Klkb1	APN	8	45,729,277 (GRCm39)	splice site	probably benign
E0374:Klkb1	UTSW	8	45,742,128 (GRCm39)	missense	possibly damaging	0.58
R0048:Klkb1	UTSW	8	45,742,233 (GRCm39)	splice site	probably benign
R0149:Klkb1	UTSW	8	45,729,100 (GRCm39)	missense	probably damaging	1.00
R0278:Klkb1	UTSW	8	45,725,446 (GRCm39)	missense	probably benign	0.27
R0551:Klkb1	UTSW	8	45,731,003 (GRCm39)	critical splice donor site	probably null
R1103:Klkb1	UTSW	8	45,729,183 (GRCm39)	missense	probably damaging	1.00
R1420:Klkb1	UTSW	8	45,729,183 (GRCm39)	missense	probably damaging	1.00
R1930:Klkb1	UTSW	8	45,728,514 (GRCm39)	missense	probably benign	0.13
R1931:Klkb1	UTSW	8	45,728,514 (GRCm39)	missense	probably benign	0.13
R2125:Klkb1	UTSW	8	45,728,541 (GRCm39)	missense	possibly damaging	0.68
R2418:Klkb1	UTSW	8	45,742,149 (GRCm39)	missense	possibly damaging	0.86
R2419:Klkb1	UTSW	8	45,742,149 (GRCm39)	missense	possibly damaging	0.86
R3938:Klkb1	UTSW	8	45,735,838 (GRCm39)	missense	probably damaging	0.99
R4445:Klkb1	UTSW	8	45,730,092 (GRCm39)	missense	probably benign	0.11
R4461:Klkb1	UTSW	8	45,726,612 (GRCm39)	missense	probably damaging	1.00
R4974:Klkb1	UTSW	8	45,739,995 (GRCm39)	missense	probably damaging	1.00
R5113:Klkb1	UTSW	8	45,723,734 (GRCm39)	missense	probably benign	0.00
R5117:Klkb1	UTSW	8	45,742,149 (GRCm39)	missense	possibly damaging	0.86
R5339:Klkb1	UTSW	8	45,723,748 (GRCm39)	missense	possibly damaging	0.93
R5891:Klkb1	UTSW	8	45,723,703 (GRCm39)	missense	probably benign	0.13
R6230:Klkb1	UTSW	8	45,736,252 (GRCm39)	missense	probably benign	0.03
R6554:Klkb1	UTSW	8	45,726,591 (GRCm39)	missense	probably damaging	1.00
R6564:Klkb1	UTSW	8	45,726,671 (GRCm39)	missense	probably damaging	0.98
R7130:Klkb1	UTSW	8	45,728,575 (GRCm39)	missense	probably benign	0.00
R7497:Klkb1	UTSW	8	45,747,827 (GRCm39)	utr 3 prime	probably benign
R7599:Klkb1	UTSW	8	45,731,150 (GRCm39)	missense	probably benign	0.01
R7867:Klkb1	UTSW	8	45,740,002 (GRCm39)	missense	probably damaging	1.00
R9087:Klkb1	UTSW	8	45,728,515 (GRCm39)	nonsense	probably null
R9254:Klkb1	UTSW	8	45,742,067 (GRCm39)	missense	probably benign	0.00
R9311:Klkb1	UTSW	8	45,722,983 (GRCm39)	missense	probably benign	0.09
R9393:Klkb1	UTSW	8	45,729,392 (GRCm39)	missense	probably benign	0.33
R9522:Klkb1	UTSW	8	45,730,052 (GRCm39)	missense	probably benign	0.02
R9756:Klkb1	UTSW	8	45,735,811 (GRCm39)	missense	possibly damaging	0.95
Z1176:Klkb1	UTSW	8	45,726,666 (GRCm39)	missense	probably damaging	0.99
Z1177:Klkb1	UTSW	8	45,728,509 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTCCCAAAATTATCATGTTGTG -3'
(R):5'- TTGATGTTGCCCAACTGTGC -3'

Sequencing Primer
(F):5'- TCATATAAGAACCCTTGAGCCTGGG -3'
(R):5'- AACTGTGCCCCTCTGTGG -3'

Posted On

2016-04-27