Mutagenetix > Incidental Mutations

Incidental Mutation 'R4991:Klk1b26'

386192

Institutional Source

Beutler Lab

Gene Symbol

Klk1b26

Ensembl Gene

ENSMUSG00000053719

Gene Name

kallikrein 1-related petidase b26

Synonyms

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

MMRRC Submission

042585-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44012168-44016968 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 44016249 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047488 (fasta)

Gene Model

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

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: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.0%

Validation Efficiency

95% (73/77)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	T	14: 55,773,465	T665K	probably benign	Het
Adgrf3	C	T	5: 30,199,148	V369M	probably benign	Het
Als2	T	C	1: 59,207,768	K571E	probably benign	Het
Amer3	A	C	1: 34,588,741	D687A	probably benign	Het
Asb14	T	C	14: 26,915,058	S586P	probably damaging	Het
Chmp4b	A	G	2: 154,692,625	E187G	probably benign	Het
Cox6b2	T	C	7: 4,752,161	D38G	probably damaging	Het
Cpm	G	A	10: 117,668,103	C138Y	probably damaging	Het
Csmd3	G	T	15: 48,001,478	P785Q	probably damaging	Het
Cstf1	A	G	2: 172,377,800	Y277C	probably damaging	Het
Cstf2t	T	A	19: 31,084,583	N506K	probably damaging	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Ebf2	A	T	14: 67,389,657	T265S	possibly damaging	Het
Elmo1	T	C	13: 20,342,519	F413S	probably damaging	Het
Fbp1	C	T	13: 62,865,074	V102I	probably benign	Het
Gm13212	C	A	4: 145,622,334	Q114K	probably benign	Het
Gm14548	T	G	7: 3,895,572	Q292H	probably benign	Het
Gm16432	A	C	1: 178,098,421	I218L	probably benign	Het
Gm19684	A	G	17: 36,127,472		probably benign	Het
Gm29106	T	C	1: 118,178,391	M37T	probably benign	Het
Grem2	A	G	1: 174,836,813	C157R	probably damaging	Het
Hdac5	T	A	11: 102,205,624	E252D	probably damaging	Het
Ifitm3	A	T	7: 141,010,459	F63I	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Irx4	G	T	13: 73,265,507	R32L	probably benign	Het
Itgb1bp1	C	T	12: 21,274,848	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,232,756	D418G	probably benign	Het
Kif1a	T	C	1: 93,078,808	T46A	probably benign	Het
Lca5l	T	C	16: 96,159,732	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,200,559	I911T	probably damaging	Het
Mios	T	G	6: 8,215,847	S348A	probably benign	Het
Mog	T	C	17: 37,017,489		probably null	Het
Mtmr7	A	G	8: 40,554,345	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,901,140	K134E	probably benign	Het
Nbeal2	C	T	9: 110,638,767	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,534,939	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,469,127	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,260,474	I293N	probably damaging	Het
Olfr1031	A	G	2: 85,992,287	M157V	probably damaging	Het
Olfr1447	T	G	19: 12,901,451	T110P	probably damaging	Het
Olfr313	T	C	11: 58,817,718	S237P	probably damaging	Het
Osgin1	A	G	8: 119,445,289	E274G	probably damaging	Het
Otof	G	A	5: 30,394,181	R343W	probably damaging	Het
Pcdha9	A	T	18: 36,998,345	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,325,381	I233T	possibly damaging	Het
Samd4	A	T	14: 47,074,010	S262C	probably damaging	Het
Snap91	T	C	9: 86,790,154		probably null	Het
Spata31d1a	T	C	13: 59,703,151	N388D	probably benign	Het
St3gal4	A	G	9: 35,053,136	V190A	possibly damaging	Het
Sv2b	T	C	7: 75,117,722	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810	I561K	probably benign	Het
Tmem201	A	T	4: 149,728,155	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,869,724	S60P	probably benign	Het
Trpa1	T	C	1: 14,910,746	Y144C	probably benign	Het
U90926	G	A	5: 92,210,020	P91S	probably benign	Het
Utp20	G	T	10: 88,746,934	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,076,527	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,751,130	L237S	probably damaging	Het
Washc5	A	G	15: 59,344,080	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,456,618		probably null	Het
Zfp212	G	A	6: 47,926,862	R127H	probably damaging	Het
Zfp740	G	T	15: 102,208,279		probably null	Het

Other mutations in Klk1b26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Klk1b26	APN	7	44016885	missense	probably benign	0.00
IGL02179:Klk1b26	APN	7	44016312	missense	probably benign
IGL03190:Klk1b26	APN	7	44012727	missense	possibly damaging	0.76
R0391:Klk1b26	UTSW	7	44012727	missense	probably damaging	1.00
R0483:Klk1b26	UTSW	7	44016348	missense	probably benign	0.15
R1499:Klk1b26	UTSW	7	44016386	missense	probably benign	0.22
R1549:Klk1b26	UTSW	7	44016402	splice site	probably benign
R1991:Klk1b26	UTSW	7	44016900	missense	probably damaging	0.99
R2103:Klk1b26	UTSW	7	44016900	missense	probably damaging	0.99
R2998:Klk1b26	UTSW	7	44016798	missense	probably benign	0.26
R3414:Klk1b26	UTSW	7	44016873	missense	probably benign
R4990:Klk1b26	UTSW	7	44016249	splice site	probably null
R5527:Klk1b26	UTSW	7	44012763	missense	probably benign	0.00
R5796:Klk1b26	UTSW	7	44016328	missense	probably damaging	1.00
R6816:Klk1b26	UTSW	7	44016868	missense	probably benign	0.00
R6938:Klk1b26	UTSW	7	44016294	missense	probably benign	0.00
R7197:Klk1b26	UTSW	7	44016397	critical splice donor site	probably null
R7243:Klk1b26	UTSW	7	44016267	missense	not run
R7243:Klk1b26	UTSW	7	44016913	missense	probably damaging	1.00
R7253:Klk1b26	UTSW	7	44014789	missense	possibly damaging	0.66
R7423:Klk1b26	UTSW	7	44014769	missense	probably damaging	0.99
R8270:Klk1b26	UTSW	7	44016120	missense	probably benign	0.08
R8342:Klk1b26	UTSW	7	44016084	missense	probably damaging	0.98
Z1088:Klk1b26	UTSW	7	44015996	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATGTTGTGAAGCCCATCGC -3'
(R):5'- GCCTAGTCAGGGTGTTGAAG -3'

Sequencing Primer
(F):5'- TCGCCCTGCCCACAAAGG -3'
(R):5'- GCCCTTCACCTCACTGCAGAG -3'

Posted On

2016-05-10