Mutagenetix > Incidental Mutation

Incidental Mutation 'R1931:Klkb1'

215367

Institutional Source

Beutler Lab

Gene Symbol

Klkb1

Ensembl Gene

ENSMUSG00000109764

Gene Name

kallikrein B, plasma 1

Synonyms

PSA, Kal3, Klk3, Kal-3

MMRRC Submission

039949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45719725-45747872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45728514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 415 (Q415L)

Ref Sequence

ENSEMBL: ENSMUSP00000026907 (fasta)

Gene Model

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

AlphaFold

P26262

Predicted Effect

probably benign
Transcript: ENSMUST00000026907
AA Change: Q415L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764
AA Change: Q415L

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: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	G	6: 86,933,318 (GRCm39)	S430A	unknown	Het
Abhd16a	T	A	17: 35,319,991 (GRCm39)	F337L	probably benign	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,685 (GRCm39)	Q647K	probably benign	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,260,648 (GRCm39)	E961G	possibly damaging	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,112,460 (GRCm39)	M1332V	probably damaging	Het
Birc6	T	C	17: 74,872,977 (GRCm39)	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Coro2a	A	T	4: 46,539,138 (GRCm39)	*544R	probably null	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,040,568 (GRCm39)	N278D	probably benign	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Dpp3	A	T	19: 4,967,888 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,797,881 (GRCm39)	R433H	possibly damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Eif4b	T	C	15: 101,997,411 (GRCm39)	S309P	unknown	Het
Eml3	G	A	19: 8,914,507 (GRCm39)	V507M	probably benign	Het
Ezhip	T	C	X: 5,994,817 (GRCm39)	E66G	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Fsip2	T	A	2: 82,817,077 (GRCm39)	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Gfm1	A	G	3: 67,363,918 (GRCm39)	K465E	probably benign	Het
Gpld1	A	T	13: 25,127,693 (GRCm39)	I32L	possibly damaging	Het
H4c12	A	T	13: 21,934,682 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,857 (GRCm39)	T143A	probably benign	Het
Hoxd12	A	G	2: 74,505,875 (GRCm39)	T149A	probably benign	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,677,756 (GRCm39)	N287I	probably damaging	Het
Itga4	G	A	2: 79,144,188 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,141,852 (GRCm39)	V1730A	probably benign	Het
Lcn10	A	G	2: 25,574,347 (GRCm39)	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nckap5l	A	G	15: 99,325,142 (GRCm39)	F454L	probably damaging	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Olfm1	G	A	2: 28,112,674 (GRCm39)		probably null	Het
Or2at4	G	T	7: 99,385,067 (GRCm39)	R239L	possibly damaging	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Or7g30	T	C	9: 19,352,647 (GRCm39)	L146P	possibly damaging	Het
Osbp2	T	C	11: 3,676,333 (GRCm39)		probably null	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Papss2	T	A	19: 32,616,368 (GRCm39)	C191*	probably null	Het
Pbxip1	A	T	3: 89,354,984 (GRCm39)		probably null	Het
Pdp1	A	G	4: 11,962,074 (GRCm39)	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612 (GRCm39)	T452A	probably benign	Het
Polr2a	A	T	11: 69,626,201 (GRCm39)	Y1612N	unknown	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Prr11	A	T	11: 86,996,868 (GRCm39)	L32*	probably null	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rps6kb1	A	G	11: 86,423,647 (GRCm39)	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,247,952 (GRCm39)	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
St8sia6	A	G	2: 13,797,623 (GRCm39)	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698 (GRCm39)	R470*	probably null	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Trim41	A	G	11: 48,698,319 (GRCm39)	V549A	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Unc5b	T	C	10: 60,608,348 (GRCm39)	T621A	probably benign	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Vmn1r214	C	A	13: 23,219,494 (GRCm39)	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,072 (GRCm39)	K428*	probably null	Het
Vmn2r81	A	C	10: 79,129,328 (GRCm39)	I740L	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp735	A	T	11: 73,602,677 (GRCm39)	K540N	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
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'- AGGACTTTGAAACTTTTCTTGTCCTA -3'
(R):5'- AACTGCATGGCTGGCTTGG -3'

Sequencing Primer
(F):5'- TGAGGATTCAAGTTCAGATCCCC -3'
(R):5'- GAAGTCAGTATTCTGCTAGCAGCC -3'

Posted On

2014-07-14