Mutagenetix > Incidental Mutation

Incidental Mutation 'R5969:Klk10'

470740

Institutional Source

Beutler Lab

Gene Symbol

Klk10

Ensembl Gene

ENSMUSG00000030693

Gene Name

kallikrein related-peptidase 10

Synonyms

2300002A13Rik, PRSSL1, NES1

MMRRC Submission

044152-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5969 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43430478-43434834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43434409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 267 (Y267C)

Ref Sequence

ENSEMBL: ENSMUSP00000014058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014058]

AlphaFold

Q99M20

Predicted Effect

probably damaging
Transcript: ENSMUST00000014058
AA Change: Y267C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014058
Gene: ENSMUSG00000030693
AA Change: Y267C

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Tryp_SPc	46	271	1.35e-71	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181454

Meta Mutation Damage Score

0.8801

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,258,999 (GRCm39)	Y19D	probably damaging	Het
Abca13	T	A	11: 9,242,214 (GRCm39)	L1359*	probably null	Het
Ahi1	A	T	10: 20,860,292 (GRCm39)	D671V	probably damaging	Het
Ahnak	T	C	19: 8,993,949 (GRCm39)	S5078P	probably damaging	Het
Ankhd1	A	T	18: 36,733,887 (GRCm39)	T584S	probably damaging	Het
Apba2	T	A	7: 64,394,195 (GRCm39)	L568*	probably null	Het
Cenpn	C	A	8: 117,667,276 (GRCm39)	L300I	probably damaging	Het
Cmya5	A	T	13: 93,226,052 (GRCm39)	L3012Q	possibly damaging	Het
Cnnm1	T	C	19: 43,479,911 (GRCm39)	S819P	probably damaging	Het
Cpa6	A	T	1: 10,559,108 (GRCm39)	S87T	probably benign	Het
Crybg2	T	A	4: 133,803,003 (GRCm39)		probably null	Het
Csmd1	T	A	8: 16,121,367 (GRCm39)	T1777S	probably benign	Het
Csmd3	G	T	15: 47,811,386 (GRCm39)	P1235Q	probably damaging	Het
Cxcr4	T	A	1: 128,517,584 (GRCm39)	N24Y	probably benign	Het
D630003M21Rik	G	T	2: 158,059,628 (GRCm39)	H91N	probably damaging	Het
Ece1	T	C	4: 137,689,051 (GRCm39)		probably null	Het
Edc3	T	C	9: 57,620,711 (GRCm39)	S11P	probably damaging	Het
Eif1ad14	T	C	12: 87,886,248 (GRCm39)	D127G	unknown	Het
Exoc3	G	A	13: 74,320,305 (GRCm39)	Q719*	probably null	Het
Fam13a	A	G	6: 58,942,183 (GRCm39)	M203T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fhip2a	C	T	19: 57,372,555 (GRCm39)	R602*	probably null	Het
Fxyd2	T	A	9: 45,319,628 (GRCm39)	I30N	probably damaging	Het
Gapt	A	G	13: 110,490,480 (GRCm39)	V61A	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gpr35	T	C	1: 92,910,942 (GRCm39)	V2A	probably damaging	Het
Gtf3c1	A	G	7: 125,244,848 (GRCm39)	S1729P	possibly damaging	Het
Heatr5a	T	C	12: 52,005,823 (GRCm39)	T51A	probably benign	Het
Kat6b	G	A	14: 21,720,860 (GRCm39)	M1737I	probably damaging	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Lgmn	T	C	12: 102,372,086 (GRCm39)	Y98C	probably damaging	Het
Lyst	A	C	13: 13,862,398 (GRCm39)		probably null	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mfng	A	T	15: 78,648,582 (GRCm39)	V165D	possibly damaging	Het
Mto1	A	G	9: 78,360,187 (GRCm39)	E225G	probably damaging	Het
Notch3	C	A	17: 32,372,858 (GRCm39)	C571F	probably damaging	Het
Nup205	C	T	6: 35,154,513 (GRCm39)		probably benign	Het
Or51b6	T	A	7: 103,556,117 (GRCm39)	I157N	probably damaging	Het
P2ry14	T	A	3: 59,022,579 (GRCm39)	I303F	probably damaging	Het
Pcnx3	T	C	19: 5,735,563 (GRCm39)	D421G	probably damaging	Het
Pdlim4	T	C	11: 53,954,482 (GRCm39)	H75R	possibly damaging	Het
Phf21a	A	T	2: 92,051,956 (GRCm39)	H17L	probably damaging	Het
Ppid	T	A	3: 79,505,024 (GRCm39)	N122K	probably damaging	Het
Ppp4r3a	T	C	12: 101,009,838 (GRCm39)	I613V	probably benign	Het
Prcp	C	T	7: 92,566,974 (GRCm39)	P229S	probably benign	Het
Ralgds	T	C	2: 28,432,426 (GRCm39)	V85A	probably damaging	Het
Rgs22	G	A	15: 36,015,782 (GRCm39)	T1034I	probably benign	Het
Slc4a3	T	C	1: 75,526,623 (GRCm39)	V48A	probably damaging	Het
Snx16	A	T	3: 10,503,217 (GRCm39)	M10K	possibly damaging	Het
Svep1	G	A	4: 58,070,977 (GRCm39)	Q2270*	probably null	Het
Tmem185b	T	G	1: 119,455,193 (GRCm39)	I318S	probably benign	Het
Tnik	C	T	3: 28,675,097 (GRCm39)	R657C	probably damaging	Het
Top3b	T	C	16: 16,701,429 (GRCm39)		probably null	Het
Trim40	C	T	17: 37,193,319 (GRCm39)	R203H	probably benign	Het
Triobp	T	A	15: 78,851,740 (GRCm39)	N631K	probably benign	Het
Ubr3	T	G	2: 69,809,730 (GRCm39)	Y1233*	probably null	Het
Vgll3	A	G	16: 65,636,449 (GRCm39)	D200G	probably damaging	Het
Vmn2r24	G	A	6: 123,755,981 (GRCm39)	E18K	probably benign	Het
Zfp141	C	A	7: 42,138,912 (GRCm39)	R40L	probably damaging	Het

Other mutations in Klk10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01488:Klk10	APN	7	43,434,400 (GRCm39)	missense	probably damaging	1.00
IGL01657:Klk10	APN	7	43,431,013 (GRCm39)	missense	possibly damaging	0.49
IGL02049:Klk10	APN	7	43,433,882 (GRCm39)	splice site	probably benign
IGL02725:Klk10	APN	7	43,431,044 (GRCm39)	missense	probably damaging	1.00
IGL03382:Klk10	APN	7	43,433,883 (GRCm39)	splice site	probably benign
R0433:Klk10	UTSW	7	43,430,989 (GRCm39)	missense	possibly damaging	0.51
R1521:Klk10	UTSW	7	43,432,304 (GRCm39)	missense	probably benign	0.00
R1580:Klk10	UTSW	7	43,432,286 (GRCm39)	missense	probably damaging	1.00
R4825:Klk10	UTSW	7	43,433,022 (GRCm39)	missense	probably damaging	1.00
R6437:Klk10	UTSW	7	43,432,241 (GRCm39)	missense	probably benign	0.04
R6641:Klk10	UTSW	7	43,434,324 (GRCm39)	missense	possibly damaging	0.94
R7589:Klk10	UTSW	7	43,433,051 (GRCm39)	missense	probably benign	0.00
R7599:Klk10	UTSW	7	43,433,851 (GRCm39)	missense	probably benign	0.03
R7902:Klk10	UTSW	7	43,432,942 (GRCm39)	missense	probably benign	0.34
R8519:Klk10	UTSW	7	43,432,239 (GRCm39)	nonsense	probably null
R9560:Klk10	UTSW	7	43,433,746 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCCACCATCACCTCTGTG -3'
(R):5'- ACTTGGGGACTGCTAGCTTC -3'

Sequencing Primer
(F):5'- AGGGTCTTCCGTATCCTAACC -3'
(R):5'- CTAGCTTCCTTGGGGTACTAGAAC -3'

Posted On

2017-03-31