Mutagenetix > Incidental Mutation

Incidental Mutation 'R9522:Klkb1'

718955

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 #

R9522 (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 45730052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 276 (I276M)

Ref Sequence

ENSEMBL: ENSMUSP00000026907 (fasta)

Gene Model

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

AlphaFold

P26262

Predicted Effect

probably benign
Transcript: ENSMUST00000026907
AA Change: I276M

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764
AA Change: I276M

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: 98.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,847,368 (GRCm39)	Y744F	probably null	Het
Adam17	C	A	12: 21,395,693 (GRCm39)	V277F	probably damaging	Het
Adcy8	C	T	15: 64,792,560 (GRCm39)	C132Y	probably damaging	Het
Adgrf3	G	A	5: 30,404,482 (GRCm39)	P318L	possibly damaging	Het
Ahcyl1	A	T	3: 107,579,398 (GRCm39)	I212N	probably damaging	Het
Allc	A	T	12: 28,620,653 (GRCm39)	F33I	probably damaging	Het
Arhgap32	A	G	9: 32,027,450 (GRCm39)	T7A	probably benign	Het
Bbs4	A	G	9: 59,260,691 (GRCm39)		probably null	Het
Btbd1	G	T	7: 81,479,081 (GRCm39)	P20H	unknown	Het
Cass4	A	G	2: 172,269,348 (GRCm39)	I477V	possibly damaging	Het
Cep83	A	G	10: 94,586,184 (GRCm39)	E362G	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cimip2c	A	T	5: 30,623,467 (GRCm39)	S5C	probably damaging	Het
Cntnap5b	A	G	1: 100,412,347 (GRCm39)	D896G	probably benign	Het
Crocc2	T	C	1: 93,117,429 (GRCm39)	V305A	probably benign	Het
Cse1l	G	A	2: 166,776,673 (GRCm39)	V495I	probably benign	Het
Ctsj	A	T	13: 61,152,257 (GRCm39)	Y36*	probably null	Het
Ctss	T	G	3: 95,454,109 (GRCm39)	D220E	probably benign	Het
Ctu1	T	C	7: 43,324,900 (GRCm39)	L113P	probably benign	Het
Cyp2d40	G	A	15: 82,648,274 (GRCm39)	A13V	possibly damaging	Het
Dhrs4	A	T	14: 55,716,219 (GRCm39)		probably benign	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dpysl5	C	A	5: 30,935,399 (GRCm39)	Y167*	probably null	Het
E4f1	C	T	17: 24,666,096 (GRCm39)	G234D	probably damaging	Het
Eif3g	G	T	9: 20,809,451 (GRCm39)	T27N	probably benign	Het
Eif3g	T	A	9: 20,809,452 (GRCm39)	T27S	probably benign	Het
Fcrl2	A	G	3: 87,164,101 (GRCm39)	F343L	possibly damaging	Het
Fdft1	T	C	14: 63,396,597 (GRCm39)		probably null	Het
Hsd3b9	T	C	3: 98,353,783 (GRCm39)	S239G	probably benign	Het
Igf2r	G	T	17: 12,917,215 (GRCm39)	Q1562K	probably benign	Het
Ilf3	G	A	9: 21,305,533 (GRCm39)	V232I	probably benign	Het
Irx5	C	T	8: 93,087,259 (GRCm39)	T397M	possibly damaging	Het
Kif16b	A	T	2: 142,691,827 (GRCm39)	V219D	probably damaging	Het
Large2	A	G	2: 92,200,266 (GRCm39)	L115P	probably damaging	Het
Lrrc3b	T	C	14: 15,358,423 (GRCm38)	D61G	probably benign	Het
Map7	A	G	10: 20,105,642 (GRCm39)	Y31C	possibly damaging	Het
Moxd2	T	A	6: 40,857,375 (GRCm39)	I462F	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or5b98	T	A	19: 12,931,377 (GRCm39)	C141*	probably null	Het
Or9m2	G	A	2: 87,821,175 (GRCm39)	C240Y	probably damaging	Het
Phf20l1	T	C	15: 66,504,669 (GRCm39)	V770A	possibly damaging	Het
Ppfia4	G	A	1: 134,240,886 (GRCm39)	A819V	probably damaging	Het
Qrfpr	A	G	3: 36,236,676 (GRCm39)	W242R	probably damaging	Het
Rgs3	A	G	4: 62,523,729 (GRCm39)	I53M	probably benign	Het
Rif1	T	C	2: 51,971,311 (GRCm39)	F263S	probably damaging	Het
Rpl22l1	T	C	3: 28,860,743 (GRCm39)		probably null	Het
Ryr3	T	A	2: 112,560,759 (GRCm39)	I3001F	probably benign	Het
Safb2	A	G	17: 56,873,900 (GRCm39)	I675T	probably damaging	Het
Scart2	T	A	7: 139,853,987 (GRCm39)	I330N	possibly damaging	Het
Sec16b	C	T	1: 157,392,335 (GRCm39)	S901L	probably damaging	Het
Setd5	T	G	6: 113,091,995 (GRCm39)	I272S	probably damaging	Het
Slc40a1	A	T	1: 45,948,672 (GRCm39)	M536K	probably damaging	Het
Slfn3	T	C	11: 83,103,825 (GRCm39)	V232A	probably benign	Het
Spata31d1b	T	C	13: 59,864,780 (GRCm39)	S643P	probably benign	Het
Tbc1d23	T	C	16: 57,019,107 (GRCm39)	D251G	probably benign	Het
Tbccd1	T	C	16: 22,641,249 (GRCm39)	E376G	possibly damaging	Het
Tmem184a	G	T	5: 139,791,485 (GRCm39)	P368T	probably benign	Het
Top1mt	T	C	15: 75,539,309 (GRCm39)	D362G	probably damaging	Het
Top6bl	T	C	19: 4,677,274 (GRCm39)	H612R	probably benign	Het
Ugt3a1	C	A	15: 9,370,209 (GRCm39)	P451H	probably damaging	Het
Unc80	G	A	1: 66,677,221 (GRCm39)	C2050Y	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn1r179	T	C	7: 23,628,202 (GRCm39)	V131A	probably damaging	Het
Wdr89	A	G	12: 75,679,924 (GRCm39)	F110S	probably damaging	Het
Znrf3	T	C	11: 5,232,379 (GRCm39)	Y282C	probably damaging	Het
Zscan18	T	C	7: 12,503,297 (GRCm39)	D754G	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
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
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'- TTAGAGGACCCCAAGATGTGC -3'
(R):5'- TTTCTCAGAAGAATACCATTTATGGAG -3'

Sequencing Primer
(F):5'- TGGACCATCAGTCTGAGAATCGTC -3'
(R):5'- ATTTATGGAGTTGCTTAGAGAGGAAG -3'

Posted On

2022-07-18