Mutagenetix > Incidental Mutation

Incidental Mutation 'R5527:Klk1b26'

501110

Institutional Source

Beutler Lab

Gene Symbol

Klk1b26

Ensembl Gene

ENSMUSG00000053719

Gene Name

kallikrein 1-related petidase b26

Synonyms

Egfbp2, Klk26, EGF-BP type B, mGK-26, PRECE-2

MMRRC Submission

043085-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5527 (G1)

Quality Score

213

Status

Not validated

Chromosome

Chromosomal Location

43662102-43666393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43662187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 15 (I15T)

Ref Sequence

ENSEMBL: ENSMUSP00000047488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048945]

AlphaFold

P36369

Predicted Effect

probably benign
Transcript: ENSMUST00000048945
AA Change: I15T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000047488
Gene: ENSMUSG00000053719
AA Change: I15T

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	2.29e-92	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206650

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. The kallikrein genes are present in a large gene cluster on chromosome 7. The encoded preproprotein is proteolytically processed to generate a mature protein product. Expression of this gene in the submandibular gland is sexually dimorphic likely due to both transcriptional and post-transcriptional regulation. This gene is thought to be distinct from the Egfbp2 gene (Gene ID: 13647), with which it shares 98% identity (PMIDs: 1959648, 9685728), however, it is not clear if both genes are present in all strains of mice. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,278,842 (GRCm39)	Y1051N	probably benign	Het
Bach1	T	C	16: 87,516,433 (GRCm39)	S325P	probably benign	Het
Baz2a	T	C	10: 127,960,786 (GRCm39)	S1529P	probably damaging	Het
Bicd1	T	C	6: 149,396,134 (GRCm39)	L168P	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccnt2	T	C	1: 127,730,401 (GRCm39)	M426T	probably benign	Het
Cdk7	C	T	13: 100,866,980 (GRCm39)	V38I	probably damaging	Het
Cenpj	T	C	14: 56,764,440 (GRCm39)	Y1324C	probably damaging	Het
Cplane2	C	A	4: 140,947,303 (GRCm39)	A228D	probably damaging	Het
Ddx47	C	A	6: 134,988,657 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,328,014 (GRCm39)	Q3370*	probably null	Het
Dnah6	C	T	6: 73,136,212 (GRCm39)	V976I	probably benign	Het
Dock7	C	T	4: 98,842,105 (GRCm39)		probably benign	Het
Dpy19l3	A	T	7: 35,413,555 (GRCm39)	I362N	possibly damaging	Het
Fam118a	A	T	15: 84,942,999 (GRCm39)	T343S	probably benign	Het
Fcgbp	T	A	7: 27,793,060 (GRCm39)	D1021E	probably benign	Het
Fkbp1b	T	C	12: 4,883,746 (GRCm39)	Y83C	probably damaging	Het
Flt4	T	C	11: 49,525,581 (GRCm39)	I709T	probably damaging	Het
Gga3	G	T	11: 115,478,262 (GRCm39)	A510D	probably damaging	Het
Heatr1	T	C	13: 12,417,641 (GRCm39)	I264T	probably damaging	Het
Heatr1	T	C	13: 12,419,829 (GRCm39)	I384T	probably benign	Het
Hes2	T	C	4: 152,244,849 (GRCm39)	V106A	probably benign	Het
Igf1r	T	A	7: 67,857,569 (GRCm39)	M1083K	probably damaging	Het
Il7r	A	T	15: 9,513,010 (GRCm39)	D166E	probably benign	Het
Ipo4	G	A	14: 55,869,507 (GRCm39)		probably null	Het
Krt42	T	C	11: 100,154,121 (GRCm39)		probably benign	Het
Lag3	T	C	6: 124,885,592 (GRCm39)	T263A	probably damaging	Het
Lilra6	T	A	7: 3,917,586 (GRCm39)		probably benign	Het
Lrrc31	T	A	3: 30,745,377 (GRCm39)	H90L	probably damaging	Het
Lvrn	G	A	18: 47,006,870 (GRCm39)	D331N	probably damaging	Het
Me2	A	T	18: 73,924,187 (GRCm39)	W342R	probably damaging	Het
Mob2	A	G	7: 141,563,147 (GRCm39)	F220S	probably damaging	Het
Mroh4	A	G	15: 74,486,865 (GRCm39)	I342T	probably damaging	Het
Naa15	T	C	3: 51,349,368 (GRCm39)	Y46H	probably damaging	Het
Neb	A	G	2: 52,224,465 (GRCm39)	V10A	unknown	Het
Nlrc5	A	G	8: 95,217,044 (GRCm39)	H1011R	probably damaging	Het
Nr1i3	A	G	1: 171,041,921 (GRCm39)	T2A	possibly damaging	Het
Nrros	T	C	16: 31,963,288 (GRCm39)	N207S	probably damaging	Het
Or52m2	A	T	7: 102,263,768 (GRCm39)	S143T	probably benign	Het
Or7c70	C	T	10: 78,683,609 (GRCm39)	V47M	probably benign	Het
Pcare	A	T	17: 72,059,635 (GRCm39)	V14D	probably damaging	Het
Ptprz1	C	T	6: 23,000,052 (GRCm39)	T714I	possibly damaging	Het
Rp1	T	C	1: 4,416,616 (GRCm39)	T1499A	possibly damaging	Het
Rubcn	T	C	16: 32,647,081 (GRCm39)	K771E	probably damaging	Het
Sbds	T	C	5: 130,275,247 (GRCm39)	E227G	possibly damaging	Het
Setd1a	C	T	7: 127,384,801 (GRCm39)	P8S	probably damaging	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Spef1	T	A	2: 131,014,661 (GRCm39)	D87V	probably damaging	Het
Supv3l1	C	T	10: 62,265,608 (GRCm39)	R644Q	probably damaging	Het
Thoc6	A	G	17: 23,889,769 (GRCm39)	F51S	probably damaging	Het
Tm4sf19	T	C	16: 32,226,739 (GRCm39)	L176P	probably damaging	Het
Tma16	A	G	8: 66,936,776 (GRCm39)	I17T	possibly damaging	Het
Tpd52l2	G	A	2: 181,143,847 (GRCm39)		probably null	Het
Ube2j1	C	T	4: 33,045,164 (GRCm39)	P146S	probably benign	Het
Ubr4	T	A	4: 139,208,099 (GRCm39)	I4960N	possibly damaging	Het
Usp13	A	G	3: 32,919,987 (GRCm39)	D224G	probably damaging	Het
Uxs1	T	C	1: 43,819,240 (GRCm39)	T188A	probably damaging	Het
Vmn2r12	A	T	5: 109,234,483 (GRCm39)	Y576*	probably null	Het
Vmn2r73	T	C	7: 85,507,575 (GRCm39)	D579G	possibly damaging	Het
Xpr1	T	C	1: 155,165,981 (GRCm39)	N524D	probably benign	Het
Xrn2	A	T	2: 146,871,675 (GRCm39)	I366L	probably benign	Het
Zfp236	A	T	18: 82,676,159 (GRCm39)	V386E	possibly damaging	Het
Zfp292	A	T	4: 34,806,261 (GRCm39)	L2261Q	probably damaging	Het
Zpld1	C	G	16: 55,046,725 (GRCm39)	E415Q	probably benign	Het

Other mutations in Klk1b26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Klk1b26	APN	7	43,666,309 (GRCm39)	missense	probably benign	0.00
IGL02179:Klk1b26	APN	7	43,665,736 (GRCm39)	missense	probably benign
IGL03190:Klk1b26	APN	7	43,662,151 (GRCm39)	missense	possibly damaging	0.76
R0391:Klk1b26	UTSW	7	43,662,151 (GRCm39)	missense	probably damaging	1.00
R0483:Klk1b26	UTSW	7	43,665,772 (GRCm39)	missense	probably benign	0.15
R1499:Klk1b26	UTSW	7	43,665,810 (GRCm39)	missense	probably benign	0.22
R1549:Klk1b26	UTSW	7	43,665,826 (GRCm39)	splice site	probably benign
R1991:Klk1b26	UTSW	7	43,666,324 (GRCm39)	missense	probably damaging	0.99
R2103:Klk1b26	UTSW	7	43,666,324 (GRCm39)	missense	probably damaging	0.99
R2998:Klk1b26	UTSW	7	43,666,222 (GRCm39)	missense	probably benign	0.26
R3414:Klk1b26	UTSW	7	43,666,297 (GRCm39)	missense	probably benign
R4990:Klk1b26	UTSW	7	43,665,673 (GRCm39)	splice site	probably null
R4991:Klk1b26	UTSW	7	43,665,673 (GRCm39)	splice site	probably null
R5796:Klk1b26	UTSW	7	43,665,752 (GRCm39)	missense	probably damaging	1.00
R6816:Klk1b26	UTSW	7	43,666,292 (GRCm39)	missense	probably benign	0.00
R6938:Klk1b26	UTSW	7	43,665,718 (GRCm39)	missense	probably benign	0.00
R7197:Klk1b26	UTSW	7	43,665,821 (GRCm39)	critical splice donor site	probably null
R7243:Klk1b26	UTSW	7	43,666,337 (GRCm39)	missense	probably damaging	1.00
R7243:Klk1b26	UTSW	7	43,665,691 (GRCm39)	missense	not run
R7253:Klk1b26	UTSW	7	43,664,213 (GRCm39)	missense	possibly damaging	0.66
R7423:Klk1b26	UTSW	7	43,664,193 (GRCm39)	missense	probably damaging	0.99
R8270:Klk1b26	UTSW	7	43,665,544 (GRCm39)	missense	probably benign	0.08
R8342:Klk1b26	UTSW	7	43,665,508 (GRCm39)	missense	probably damaging	0.98
Z1088:Klk1b26	UTSW	7	43,665,420 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCAGCATCTGGGTGTCAAC -3'
(R):5'- GCACAGAGATGATCAGGTGTC -3'

Sequencing Primer
(F):5'- CAGGACAGGGGAGGGACTATG -3'
(R):5'- CACAGAGATGATCAGGTGTCTAAGG -3'

Posted On

2017-12-01