Mutagenetix > Incidental Mutation

Incidental Mutation 'R9254:Klkb1'

701729

Institutional Source

Beutler Lab

Gene Symbol

Klkb1

Ensembl Gene

ENSMUSG00000109764

Gene Name

kallikrein B, plasma 1

Synonyms

PSA, Kal3, Klk3, Kal-3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9254 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45719725-45747872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45742067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 71 (T71A)

Ref Sequence

ENSEMBL: ENSMUSP00000026907 (fasta)

Gene Model

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

AlphaFold

P26262

Predicted Effect

probably benign
Transcript: ENSMUST00000026907
AA Change: T71A

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

SMART Domains

Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764
AA Change: T71A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	G	6: 86,914,049 (GRCm39)	I173V	possibly damaging	Het
Abca14	G	T	7: 119,807,202 (GRCm39)	E83*	probably null	Het
Abcc5	T	C	16: 20,152,437 (GRCm39)	T1370A	probably damaging	Het
Abtb2	A	G	2: 103,541,580 (GRCm39)	T828A	probably benign	Het
Agap1	T	A	1: 89,653,741 (GRCm39)	V370D	probably damaging	Het
Ankhd1	T	C	18: 36,777,680 (GRCm39)	V1621A	probably benign	Het
Atp2a2	T	C	5: 122,611,315 (GRCm39)	I168V	probably benign	Het
Atxn2	G	A	5: 121,885,509 (GRCm39)	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,847,283 (GRCm39)	A132E	probably damaging	Het
Bod1l	T	C	5: 41,979,223 (GRCm39)	E697G	probably damaging	Het
Ccdc162	T	G	10: 41,488,944 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,752,210 (GRCm39)	S236G	unknown	Het
Csmd2	A	G	4: 128,091,112 (GRCm39)	E217G		Het
Cyp2j7	T	A	4: 96,105,740 (GRCm39)	K257*	probably null	Het
D630003M21Rik	C	T	2: 158,042,883 (GRCm39)	A886T	probably damaging	Het
D630044L22Rik	A	G	17: 26,180,856 (GRCm39)	H102R	possibly damaging	Het
Dact3	G	A	7: 16,620,013 (GRCm39)	V503I	unknown	Het
Dcn	G	T	10: 97,343,643 (GRCm39)	R201L	probably damaging	Het
Dmxl1	T	C	18: 50,024,567 (GRCm39)	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,652,743 (GRCm39)		probably null	Het
Dner	A	G	1: 84,673,193 (GRCm39)	V86A	probably benign	Het
Dspp	A	T	5: 104,322,760 (GRCm39)		probably null	Het
Gphn	T	C	12: 78,674,036 (GRCm39)		probably null	Het
Gpr158	A	G	2: 21,373,042 (GRCm39)		probably benign	Het
Grip1	G	T	10: 119,780,961 (GRCm39)	L203F	probably damaging	Het
Hgfac	T	C	5: 35,202,133 (GRCm39)	W345R	probably damaging	Het
Hoga1	T	C	19: 42,051,697 (GRCm39)	L250P	probably damaging	Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Katnip	T	C	7: 125,469,848 (GRCm39)	L1439P	probably damaging	Het
Kif21a	C	T	15: 90,854,030 (GRCm39)	R779Q	probably damaging	Het
Lama2	A	G	10: 27,298,685 (GRCm39)	V137A	probably damaging	Het
Lrp2	T	C	2: 69,333,891 (GRCm39)	D1450G	probably benign	Het
Lrrc8c	T	A	5: 105,756,356 (GRCm39)	Y710*	probably null	Het
Mixl1	A	G	1: 180,522,258 (GRCm39)	S208P	probably benign	Het
Mroh1	A	G	15: 76,292,215 (GRCm39)	H229R	probably benign	Het
Muc16	T	A	9: 18,557,467 (GRCm39)	Q2942L	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup85	T	C	11: 115,469,424 (GRCm39)	I322T	probably benign	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Odad2	T	C	18: 7,265,089 (GRCm39)	D426G	possibly damaging	Het
Or10n7-ps1	A	G	9: 39,598,114 (GRCm39)	L42P	probably damaging	Het
Or5w15	T	A	2: 87,568,372 (GRCm39)	M99L	probably benign	Het
Or7e169	T	A	9: 19,757,212 (GRCm39)	K234N	possibly damaging	Het
Or8b4	C	T	9: 37,830,447 (GRCm39)	L165F	probably damaging	Het
Or9k2b	A	G	10: 130,016,605 (GRCm39)	M48T	possibly damaging	Het
Pcyt1a	G	A	16: 32,288,894 (GRCm39)	R245Q	probably benign	Het
Pi15	T	C	1: 17,695,180 (GRCm39)	Y266H	probably benign	Het
Plxna2	C	T	1: 194,492,474 (GRCm39)	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,581,874 (GRCm39)	D47G	probably benign	Het
Pram1	T	C	17: 33,860,441 (GRCm39)	V336A	probably damaging	Het
Prl	T	A	13: 27,243,503 (GRCm39)	I58N	probably damaging	Het
Qrich2	T	C	11: 116,348,934 (GRCm39)	D630G	unknown	Het
Ralgapa1	G	C	12: 55,769,583 (GRCm39)	P803A	probably damaging	Het
Rin1	A	G	19: 5,103,249 (GRCm39)	K513E	probably damaging	Het
Rtcb	A	T	10: 85,779,071 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,898,002 (GRCm39)	C131Y	probably damaging	Het
Sspo	G	T	6: 48,464,928 (GRCm39)	V3954L	probably damaging	Het
Taf4b	C	T	18: 14,946,431 (GRCm39)	T418M	probably damaging	Het
Taf6	A	G	5: 138,181,952 (GRCm39)	I92T	possibly damaging	Het
Tfg	A	T	16: 56,526,050 (GRCm39)	D64E	probably damaging	Het
Tkfc	T	A	19: 10,574,712 (GRCm39)	E176V	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem200a	A	T	10: 25,869,654 (GRCm39)	L205Q	probably damaging	Het
Trav13n-3	T	G	14: 53,574,853 (GRCm39)	L32V	probably damaging	Het
Tsen2	T	A	6: 115,553,864 (GRCm39)	M414K	probably damaging	Het
Tut7	T	C	13: 59,936,288 (GRCm39)	Y1271C	possibly damaging	Het
Txlna	A	T	4: 129,530,900 (GRCm39)	Y196N	probably damaging	Het
Usp44	T	A	10: 93,688,635 (GRCm39)	I562K	possibly damaging	Het
Vmn1r24	T	A	6: 57,932,736 (GRCm39)	I261F	probably benign	Het
Vmn2r106	T	C	17: 20,496,066 (GRCm39)	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,650 (GRCm39)	V135A	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
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
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
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'- AGTCTGTCTCTGGGTTCAGTAC -3'
(R):5'- TTGTCAGACCCGTGAAGTTG -3'

Sequencing Primer
(F):5'- CTTTGGGTCTGCATTGAAAAGACCC -3'
(R):5'- TCAGACCCGTGAAGTTGTAATGAC -3'

Posted On

2022-03-25