Mutagenetix > Incidental Mutation

Incidental Mutation 'R4990:Klk1b26'

386123

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

042584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43662102-43666393 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 43665673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047488 (fasta)

Gene Model

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

AlphaFold

P36369

Predicted Effect

probably null
Transcript: ENSMUST00000048945

SMART Domains

Protein: ENSMUSP00000047488
Gene: ENSMUSG00000053719

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: ENSMUST00000205780

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,334,098 (GRCm39)	I1135V	possibly damaging	Het
Abca14	G	A	7: 119,911,388 (GRCm39)	R1324K	probably benign	Het
Amer3	A	C	1: 34,627,822 (GRCm39)	D687A	probably benign	Het
Aplnr	G	A	2: 84,967,721 (GRCm39)	V249M	probably damaging	Het
Atg16l1	A	G	1: 87,717,091 (GRCm39)	K471R	probably benign	Het
Cacna1b	A	G	2: 24,568,886 (GRCm39)		probably null	Het
Catspere2	A	C	1: 177,925,987 (GRCm39)	I218L	probably benign	Het
Ccdc152	A	G	15: 3,330,639 (GRCm39)	I12T	probably benign	Het
Cds1	A	G	5: 101,946,245 (GRCm39)	Y148C	probably damaging	Het
Cenpe	T	A	3: 134,962,401 (GRCm39)	L1989Q	probably damaging	Het
Cep295	T	C	9: 15,243,434 (GRCm39)	Q1674R	probably damaging	Het
D930020B18Rik	C	G	10: 121,490,666 (GRCm39)	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,490,667 (GRCm39)	P89L	probably damaging	Het
Dock2	T	C	11: 34,586,078 (GRCm39)	M535V	probably damaging	Het
Dscam	A	G	16: 96,626,715 (GRCm39)	V398A	probably benign	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Emb	T	A	13: 117,401,046 (GRCm39)	N198K	probably damaging	Het
Eno3	A	G	11: 70,549,473 (GRCm39)	D98G	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Fbxw18	T	C	9: 109,517,461 (GRCm39)	E414G	probably damaging	Het
Grem2	A	G	1: 174,664,379 (GRCm39)	C157R	probably damaging	Het
Hnrnpr	G	A	4: 136,063,609 (GRCm39)	V239I	probably damaging	Het
Hnrnpr	A	G	4: 136,056,690 (GRCm39)	E230G	probably damaging	Het
Ipo11	A	T	13: 106,997,395 (GRCm39)	I688K	probably benign	Het
Irx4	G	T	13: 73,413,626 (GRCm39)	R32L	probably benign	Het
Kcnh7	T	C	2: 62,564,632 (GRCm39)	N876D	probably benign	Het
Lrp2	G	T	2: 69,311,732 (GRCm39)	T2582K	probably benign	Het
Lrriq1	A	G	10: 103,036,420 (GRCm39)	I911T	probably damaging	Het
Megf6	A	G	4: 154,351,683 (GRCm39)	E1132G	possibly damaging	Het
Mesp1	A	G	7: 79,442,669 (GRCm39)	Y203H	probably damaging	Het
Ms4a4a	T	C	19: 11,356,201 (GRCm39)	S29P	probably benign	Het
Nbeal2	A	C	9: 110,463,871 (GRCm39)	C1174G	probably benign	Het
Neb	C	T	2: 52,145,558 (GRCm39)	V2989I	probably benign	Het
Nkx2-1	T	C	12: 56,581,724 (GRCm39)	Y41C	possibly damaging	Het
Nrxn3	T	A	12: 89,227,244 (GRCm39)	I293N	probably damaging	Het
Nt5e	A	G	9: 88,237,646 (GRCm39)	N192S	probably benign	Het
Ntng1	A	T	3: 110,042,577 (GRCm39)		probably null	Het
Or13a17	G	A	7: 140,271,360 (GRCm39)	E181K	probably damaging	Het
Or3a1d	A	G	11: 74,238,023 (GRCm39)	I129T	probably damaging	Het
Or4c110	A	T	2: 88,831,816 (GRCm39)	I272K	probably damaging	Het
Or4c15b	A	T	2: 89,113,671 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,921,513 (GRCm39)	Y121H	probably damaging	Het
Pcsk4	A	G	10: 80,161,215 (GRCm39)	I233T	possibly damaging	Het
Pgm3	T	A	9: 86,440,465 (GRCm39)	I409F	probably damaging	Het
Plg	T	C	17: 12,630,397 (GRCm39)	Y645H	probably benign	Het
Pon3	T	C	6: 5,221,619 (GRCm39)	H337R	probably benign	Het
Rasa2	A	G	9: 96,474,042 (GRCm39)	I162T	probably benign	Het
Ror1	A	G	4: 100,299,161 (GRCm39)	I845V	probably benign	Het
Rpl4	T	C	9: 64,082,167 (GRCm39)	V22A	probably benign	Het
Ryr3	T	C	2: 112,740,318 (GRCm39)	N531S	probably damaging	Het
Ryr3	G	T	2: 112,466,122 (GRCm39)	Q4746K	probably damaging	Het
Sbno1	A	T	5: 124,538,228 (GRCm39)	F571I	probably damaging	Het
Scarf1	T	C	11: 75,416,841 (GRCm39)	V761A	probably benign	Het
Sec22b	T	G	3: 97,828,427 (GRCm39)		probably null	Het
Slc45a2	A	G	15: 11,001,236 (GRCm39)	M112V	probably benign	Het
Snai3	G	A	8: 123,183,071 (GRCm39)	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
Speer1e	A	T	5: 11,236,381 (GRCm39)	E138V	probably damaging	Het
Sv2b	T	C	7: 74,767,470 (GRCm39)	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810 (GRCm39)	I561K	probably benign	Het
Trappc11	A	T	8: 47,943,930 (GRCm39)	D1127E	probably benign	Het
Triobp	C	A	15: 78,851,205 (GRCm39)	A453D	probably benign	Het
Tubd1	T	C	11: 86,448,665 (GRCm39)	L295P	probably damaging	Het
Ulk4	C	T	9: 121,021,852 (GRCm39)	V620I	probably benign	Het
Vmn2r39	A	G	7: 9,026,675 (GRCm39)	I442T	probably benign	Het
Wwc1	T	C	11: 35,767,393 (GRCm39)	T413A	probably benign	Het
Zfp131	A	C	13: 120,244,449 (GRCm39)	V77G	probably damaging	Het
Zfyve26	T	C	12: 79,334,607 (GRCm39)	D137G	probably damaging	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
R4991:Klk1b26	UTSW	7	43,665,673 (GRCm39)	splice site	probably null
R5527:Klk1b26	UTSW	7	43,662,187 (GRCm39)	missense	probably benign	0.00
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'- TCAGCAATGACCTGATGCTG -3'
(R):5'- CTTCACCTCACTGCAGAGAG -3'

Sequencing Primer
(F):5'- CAGATGTTGTGAAGCCCATCG -3'
(R):5'- AGGGTCTGTCTTACCGCACAAG -3'

Posted On

2016-05-10