Mutagenetix > Incidental Mutation

Incidental Mutation 'R8270:Klk1b26'

639442

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

067694-MU

Accession Numbers

Essential gene?

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

Stock #

R8270 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43662102-43666393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43665544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 151 (T151S)

Ref Sequence

ENSEMBL: ENSMUSP00000047488 (fasta)

Gene Model

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

AlphaFold

P36369

Predicted Effect

probably benign
Transcript: ENSMUST00000048945
AA Change: T151S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000047488
Gene: ENSMUSG00000053719
AA Change: T151S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

98% (52/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,651,163 (GRCm39)	T3044I	probably damaging	Het
Apbb1ip	C	T	2: 22,765,004 (GRCm39)	P562S	unknown	Het
Arhgap44	A	G	11: 64,912,860 (GRCm39)	M477T	possibly damaging	Het
Arhgef12	T	C	9: 42,882,354 (GRCm39)	T1497A	probably benign	Het
Atp5pd	T	C	11: 115,307,698 (GRCm39)	D91G	probably damaging	Het
Atp6v0a4	A	G	6: 38,051,164 (GRCm39)	F405L	probably damaging	Het
Bicc1	T	A	10: 70,767,938 (GRCm39)	T893S	probably damaging	Het
Cacna1i	T	A	15: 80,257,835 (GRCm39)	C1122S	probably damaging	Het
Capn7	A	G	14: 31,080,636 (GRCm39)	E369G	probably damaging	Het
Cass4	T	A	2: 172,269,589 (GRCm39)	L557Q	probably damaging	Het
Cdh5	A	G	8: 104,839,672 (GRCm39)	I48V	probably benign	Het
Crisp3	T	C	17: 40,546,813 (GRCm39)	K35R	probably benign	Het
Csde1	G	A	3: 102,946,071 (GRCm39)	A22T	possibly damaging	Het
Ctse	T	C	1: 131,595,877 (GRCm39)	Y190H	probably damaging	Het
Cyp2d34	T	A	15: 82,504,988 (GRCm39)	D24V	possibly damaging	Het
D630045J12Rik	A	T	6: 38,167,658 (GRCm39)	Y981*	probably null	Het
Dclre1a	G	A	19: 56,533,382 (GRCm39)	T404I	possibly damaging	Het
Dmc1	T	C	15: 79,485,746 (GRCm39)	D23G	probably damaging	Het
Dnah8	C	T	17: 31,059,687 (GRCm39)	T4429M	probably damaging	Het
Esf1	A	T	2: 139,997,033 (GRCm39)		probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fn3k	A	T	11: 121,330,137 (GRCm39)	M107L	probably benign	Het
Fxyd5	A	G	7: 30,740,854 (GRCm39)	L10P	probably damaging	Het
Gm21958	G	A	3: 54,621,633 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,659,760 (GRCm39)	D321N	probably benign	Het
Gtf2h3	A	G	5: 124,734,050 (GRCm39)	*310W	probably null	Het
Hapln2	G	A	3: 87,930,851 (GRCm39)	T180I	possibly damaging	Het
Herc1	T	G	9: 66,395,232 (GRCm39)	V4189G	probably damaging	Het
Iqgap1	A	G	7: 80,379,875 (GRCm39)	V1166A	probably damaging	Het
Kcnk10	T	C	12: 98,401,358 (GRCm39)	N439S		Het
Klhl3	A	T	13: 58,260,968 (GRCm39)	M15K		Het
Krtap5-1	C	A	7: 141,850,199 (GRCm39)	C176F	unknown	Het
Krtap5-3	T	A	7: 141,755,693 (GRCm39)	C177S	unknown	Het
Lrrc37	T	C	11: 103,434,141 (GRCm39)	I3009M	unknown	Het
Map1a	T	C	2: 121,129,501 (GRCm39)	F180L	probably damaging	Het
Mfap5	T	C	6: 122,498,889 (GRCm39)		probably null	Het
Nckap1	T	A	2: 80,355,008 (GRCm39)	H638L	possibly damaging	Het
Optc	C	T	1: 133,832,810 (GRCm39)	V97M	probably benign	Het
Or5p78	T	A	7: 108,212,150 (GRCm39)	I212N	probably benign	Het
Or8b46	T	G	9: 38,450,644 (GRCm39)	M151R	noncoding transcript	Het
Piezo1	A	G	8: 123,228,298 (GRCm39)	Y330H		Het
Ppp1r12b	G	T	1: 134,803,886 (GRCm39)	N424K	probably benign	Het
Prdm5	T	A	6: 65,913,058 (GRCm39)	F580L	probably damaging	Het
Prr27	A	C	5: 87,994,171 (GRCm39)	K348N	possibly damaging	Het
Prr30	A	G	14: 101,435,822 (GRCm39)	Y247H	possibly damaging	Het
Rbks	A	T	5: 31,807,810 (GRCm39)		probably benign	Het
Sec24d	T	C	3: 123,099,535 (GRCm39)	V336A	possibly damaging	Het
Serac1	A	T	17: 6,101,033 (GRCm39)	L457H	probably damaging	Het
Serpina1f	A	G	12: 103,659,757 (GRCm39)	I175T	probably damaging	Het
Smr2l	T	C	5: 88,430,383 (GRCm39)	V93A	possibly damaging	Het
Sspo	A	T	6: 48,426,897 (GRCm39)	H242L	probably benign	Het
Tcaf2	A	T	6: 42,606,958 (GRCm39)	M332K	probably benign	Het
Tnrc6a	T	A	7: 122,769,294 (GRCm39)	N361K	possibly damaging	Het
Trim43b	G	T	9: 88,967,458 (GRCm39)	H393N	possibly damaging	Het
Ush2a	T	C	1: 188,176,838 (GRCm39)	L1334S	probably benign	Het
Usp35	T	C	7: 96,961,551 (GRCm39)	E625G	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
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
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'- AAAAGCTTCCCTCACCCTGG -3'
(R):5'- GCATGACATCTGTGACTTTCTG -3'

Sequencing Primer
(F):5'- GCTTCAACATGAGCCTCCTGATG -3'
(R):5'- AGACTTTGGCACAGTTCTCATTG -3'

Posted On

2020-07-28