Mutagenetix > Incidental Mutation

Incidental Mutation 'R1103:Klkb1'

98273

Institutional Source

Beutler Lab

Gene Symbol

Klkb1

Ensembl Gene

ENSMUSG00000109764

Gene Name

kallikrein B, plasma 1

Synonyms

PSA, Kal3, Klk3, Kal-3

MMRRC Submission

039176-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45719725-45747872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45729183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 347 (C347F)

Ref Sequence

ENSEMBL: ENSMUSP00000026907 (fasta)

Gene Model

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

AlphaFold

P26262

Predicted Effect

probably damaging
Transcript: ENSMUST00000026907
AA Change: C347F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764
AA Change: C347F

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

Meta Mutation Damage Score

0.7887

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930524J08Rik	G	A	5: 100,126,980 (GRCm39)		probably benign	Het
Adam3	T	A	8: 25,204,287 (GRCm39)		probably benign	Het
Adpgk	A	G	9: 59,221,079 (GRCm39)	H295R	probably damaging	Het
Aftph	A	T	11: 20,676,547 (GRCm39)	M199K	probably benign	Het
Ap2a1	C	A	7: 44,553,593 (GRCm39)		probably benign	Het
Atpaf2	T	C	11: 60,294,776 (GRCm39)	I216V	probably benign	Het
Bag4	A	T	8: 26,257,891 (GRCm39)		probably benign	Het
Bltp1	A	T	3: 37,050,672 (GRCm39)	M3003L	probably benign	Het
Bud23	T	C	5: 135,089,993 (GRCm39)	S67G	probably damaging	Het
Cfap157	A	G	2: 32,671,410 (GRCm39)	F132S	probably damaging	Het
Cngb3	G	A	4: 19,309,658 (GRCm39)		probably null	Het
Cntnap5a	A	G	1: 116,508,399 (GRCm39)	I1304V	possibly damaging	Het
Cp	A	G	3: 20,036,149 (GRCm39)	K764E	possibly damaging	Het
Crebbp	A	G	16: 3,901,925 (GRCm39)	V2438A	probably damaging	Het
Csmd3	A	T	15: 47,811,402 (GRCm39)	W1230R	probably damaging	Het
Cul1	G	A	6: 47,494,111 (GRCm39)	V475I	probably benign	Het
Dnttip2	T	C	3: 122,070,071 (GRCm39)	S429P	probably benign	Het
Dtwd1	T	C	2: 125,996,643 (GRCm39)	S43P	probably damaging	Het
Ect2l	T	C	10: 18,016,274 (GRCm39)	T705A	probably damaging	Het
Erbin	G	T	13: 104,022,710 (GRCm39)	T43N	probably benign	Het
Fcgbpl1	G	T	7: 27,853,945 (GRCm39)	L1636F	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gpr150	G	T	13: 76,203,712 (GRCm39)	P411Q	probably damaging	Het
Grap	C	A	11: 61,562,544 (GRCm39)	Q172K	probably benign	Het
Ido2	G	A	8: 25,066,239 (GRCm39)	T9M	probably benign	Het
Klra17	G	A	6: 129,845,806 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,097,942 (GRCm39)	L1774P	probably damaging	Het
Lhpp	A	T	7: 132,212,484 (GRCm39)	D17V	probably damaging	Het
Lrfn4	T	C	19: 4,663,299 (GRCm39)	T412A	probably benign	Het
Lrrc7	C	T	3: 157,854,343 (GRCm39)		probably benign	Het
Ltbp3	A	T	19: 5,797,439 (GRCm39)		probably null	Het
Ltbp3	G	C	19: 5,797,440 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,268,041 (GRCm39)	L88Q	possibly damaging	Het
Magi2	T	C	5: 20,816,101 (GRCm39)	I747T	probably damaging	Het
Map1b	A	T	13: 99,563,974 (GRCm39)		probably benign	Het
Map3k4	A	T	17: 12,455,950 (GRCm39)		probably null	Het
Map3k5	C	A	10: 19,899,422 (GRCm39)	D226E	probably benign	Het
Mtf1	T	A	4: 124,732,261 (GRCm39)	S440T	probably benign	Het
Myo18a	T	A	11: 77,714,156 (GRCm39)	L389Q	probably damaging	Het
Myom2	A	G	8: 15,160,827 (GRCm39)	D900G	probably benign	Het
Nfasc	T	C	1: 132,534,795 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,912,309 (GRCm39)	S7044R	probably damaging	Het
Or5bw2	T	A	7: 6,573,111 (GRCm39)	N40K	probably damaging	Het
Or5e1	T	C	7: 108,354,090 (GRCm39)	V9A	possibly damaging	Het
Or6k4	T	C	1: 173,964,457 (GRCm39)	V49A	probably benign	Het
Pde4c	T	A	8: 71,201,066 (GRCm39)	H421Q	probably damaging	Het
Pnmt	G	T	11: 98,278,502 (GRCm39)	R156L	probably benign	Het
Pramel22	A	C	4: 143,381,942 (GRCm39)	C251W	probably damaging	Het
Rnf138	A	G	18: 21,159,159 (GRCm39)	E193G	probably damaging	Het
Sesn1	G	T	10: 41,778,589 (GRCm39)	R346L	possibly damaging	Het
Setd4	G	T	16: 93,382,082 (GRCm39)	H390Q	probably benign	Het
Supt6	T	C	11: 78,116,299 (GRCm39)	E688G	possibly damaging	Het
Syne2	G	A	12: 76,156,609 (GRCm39)	D6802N	probably benign	Het
Syt16	A	G	12: 74,313,672 (GRCm39)	K533E	probably damaging	Het
Tg	A	T	15: 66,591,504 (GRCm39)	Q26H	probably benign	Het
Trim33	G	T	3: 103,218,201 (GRCm39)	W250L	probably damaging	Het
Trip4	A	G	9: 65,788,188 (GRCm39)	C86R	probably benign	Het
Upf2	T	A	2: 6,030,986 (GRCm39)	C809S	unknown	Het
Vrk2	A	G	11: 26,499,325 (GRCm39)	F76L	probably damaging	Het
Zfp804a	A	G	2: 82,087,844 (GRCm39)	T558A	probably 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
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
R4969:Klkb1	UTSW	8	45,735,814 (GRCm39)	missense	probably benign	0.43
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'- AGCGTTTGTTCCTCCCACAATACG -3'
(R):5'- TGTACAAAGACAATCCGCTGCCAG -3'

Sequencing Primer
(F):5'- ccactcccatatacaaaccataac -3'
(R):5'- AATCCGCTGCCAGTTTTTTATTTAC -3'

Posted On

2014-01-05