Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Klk10'

166984

Institutional Source

Beutler Lab

Gene Symbol

Klk10

Ensembl Gene

ENSMUSG00000030693

Gene Name

kallikrein related-peptidase 10

Synonyms

NES1, PRSSL1, 2300002A13Rik

MMRRC Submission

040870-MU

Accession Numbers

Essential gene?

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

Stock #

R1521 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43781035-43785410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43782880 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 79 (Q79R)

Ref Sequence

ENSEMBL: ENSMUSP00000014058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014058] [ENSMUST00000080211] [ENSMUST00000171458]

AlphaFold

Q99M20

Predicted Effect

probably benign
Transcript: ENSMUST00000014058
AA Change: Q79R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000014058
Gene: ENSMUSG00000030693
AA Change: Q79R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080211

SMART Domains

Protein: ENSMUSP00000079101
Gene: ENSMUSG00000067616

Domain	Start	End	E-Value	Type
low complexity region	22	37	N/A	INTRINSIC
Tryp_SPc	47	269	5.14e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171458

SMART Domains

Protein: ENSMUSP00000132721
Gene: ENSMUSG00000067616

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	20	242	5.14e-95	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206165

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.6%

Validation Efficiency

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 111,987,235	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,430,552	V360A	probably benign	Het
Ahnak	G	A	19: 9,004,728	M1125I	probably benign	Het
Akap12	T	C	10: 4,354,804	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,515,438	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,027,673	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,779,591	N516T	probably damaging	Het
Cacna1h	T	C	17: 25,397,354	M184V	possibly damaging	Het
Cacnb2	G	T	2: 14,614,352	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867	E96G	probably damaging	Het
Ccdc78	G	T	17: 25,788,781	R264L	probably damaging	Het
Cdh4	G	A	2: 179,797,558	R166H	probably damaging	Het
Cog7	C	T	7: 121,930,574	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,257,383	V115A	probably benign	Het
Crybg1	A	G	10: 43,998,416	S899P	probably damaging	Het
Ctdnep1	T	A	11: 69,988,635	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,959,842	K780E	probably benign	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,618,065	Y91*	probably null	Het
Dcdc5	T	C	2: 106,351,669		noncoding transcript	Het
Dppa1	T	A	11: 46,610,473	R74S	possibly damaging	Het
Elovl1	A	T	4: 118,432,000	T241S	probably benign	Het
Eya1	G	T	1: 14,274,550	Q86K	probably damaging	Het
Fam71a	T	A	1: 191,164,022	R141S	probably benign	Het
Fancm	A	T	12: 65,121,704	M1614L	probably benign	Het
Fcgbp	C	T	7: 28,075,160	T53I	probably benign	Het
Fpr3	T	A	17: 17,971,015	W183R	probably damaging	Het
Galnt13	G	A	2: 54,854,645	V119I	probably benign	Het
Gcfc2	T	C	6: 81,923,812	S36P	probably benign	Het
Gdap2	T	A	3: 100,194,615	D412E	possibly damaging	Het
Gm10184	T	A	17: 89,910,306	N4I	possibly damaging	Het
Gm12258	T	C	11: 58,859,555	C41R	probably damaging	Het
Grrp1	T	C	4: 134,251,350	*272W	probably null	Het
Hipk1	T	G	3: 103,777,782	E172D	probably benign	Het
Hmgcs1	T	G	13: 119,703,591	L326R	probably benign	Het
Hs6st1	C	A	1: 36,068,886	R77S	probably damaging	Het
Ifit3	A	T	19: 34,587,173	N40Y	probably damaging	Het
Il1a	T	A	2: 129,304,741	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,957,811	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,106,747	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,351,558	C39Y	probably damaging	Het
Kif22	G	T	7: 127,027,839	A646E	probably damaging	Het
Klhl29	T	C	12: 5,091,307	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,149,110		probably null	Het
Klhl9	A	G	4: 88,721,993	S4P	probably benign	Het
Klk6	T	C	7: 43,829,275		probably null	Het
Lamc2	C	T	1: 153,166,263	E42K	probably benign	Het
Lingo3	T	C	10: 80,835,721	D125G	probably benign	Het
Map1b	T	C	13: 99,432,739	N1158S	unknown	Het
Masp1	T	A	16: 23,494,637	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,568,926	Y636H	probably benign	Het
Micalcl	T	A	7: 112,381,610	S264T	probably damaging	Het
Mif	A	G	10: 75,859,541	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,595,088		probably null	Het
Mmp23	T	C	4: 155,650,717	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,415,222	S800R	possibly damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,949,205	S67R	probably damaging	Het
Odf2l	T	C	3: 145,149,036	S545P	possibly damaging	Het
Olfr1256	G	A	2: 89,835,172	R258*	probably null	Het
Olfr172	C	T	16: 58,760,853	E108K	probably damaging	Het
Olfr591	T	A	7: 103,173,451	Y62F	probably benign	Het
Olfr845	C	T	9: 19,338,652	S64F	probably benign	Het
Olfr872	A	C	9: 20,260,432	Q197H	possibly damaging	Het
Olfr916	T	G	9: 38,657,718	I225L	probably damaging	Het
Olfr958	A	T	9: 39,550,784	V29E	possibly damaging	Het
Otog	A	T	7: 46,259,264	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,594,191	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,173,607	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 109,007,305	T134P	probably damaging	Het
Phc3	G	T	3: 30,936,575	Q498K	possibly damaging	Het
Phlpp1	T	C	1: 106,392,319	V1348A	probably damaging	Het
Pik3ap1	T	C	19: 41,321,558	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,065,500		probably null	Het
Pla2g4a	T	C	1: 149,857,686		probably null	Het
Pola2	A	T	19: 5,948,406	I376N	probably damaging	Het
Pold2	T	A	11: 5,876,833	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,554,886	L281P	probably damaging	Het
Prss46	A	G	9: 110,849,635	I29V	probably benign	Het
Ranbp6	A	T	19: 29,811,446	V502E	probably benign	Het
Rdh14	T	C	12: 10,394,613	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 84,965,858		probably null	Het
Rpp30	A	G	19: 36,094,385	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005	F117L	probably damaging	Het
S100a2	T	A	3: 90,591,292		probably null	Het
Sept12	T	C	16: 4,996,476	K43R	probably damaging	Het
Sh3tc2	A	G	18: 62,008,488	E1080G	probably damaging	Het
Slc26a9	A	G	1: 131,750,677	K27R	probably damaging	Het
Spata17	T	A	1: 187,193,994	K46N	probably damaging	Het
St14	A	C	9: 31,108,215	D103E	probably benign	Het
St6galnac2	T	A	11: 116,684,347	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,036,410	V831A	probably damaging	Het
Tert	A	G	13: 73,642,056	E843G	probably damaging	Het
Tex21	A	G	12: 76,204,270	V464A	probably benign	Het
Tmem232	T	A	17: 65,484,501	H124L	probably damaging	Het
Tmem5	A	G	10: 122,090,479	W243R	probably damaging	Het
Tnfrsf19	T	G	14: 61,005,106	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,515,825	K272*	probably null	Het
Tnxb	T	C	17: 34,711,503	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,242,465	D440A	probably benign	Het
Trpm3	A	G	19: 22,901,221	E504G	probably damaging	Het
Trpm5	C	T	7: 143,082,889	R437H	probably benign	Het
Ttn	T	C	2: 76,741,167	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,798,422	M64L	possibly damaging	Het
Urb1	G	A	16: 90,753,863	R2034W	probably damaging	Het
Usp44	T	A	10: 93,847,186	C452*	probably null	Het
Uvssa	G	A	5: 33,413,934	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,557,078	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,389,268	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,425,919	H183P	probably damaging	Het
Vps13d	G	T	4: 145,105,861	T2825K	probably benign	Het
Zc3hc1	T	A	6: 30,376,025	I179F	probably benign	Het
Zfp112	A	G	7: 24,125,785	N393D	probably damaging	Het
Zfp558	A	G	9: 18,456,563	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,348,775		probably null	Het
Zfp668	C	T	7: 127,867,080	E311K	probably benign	Het
Zfp763	T	A	17: 33,033,302	M1L	probably benign	Het
Zfp947	A	T	17: 22,145,832	M287K	probably benign	Het

Other mutations in Klk10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01488:Klk10	APN	7	43,784,976 (GRCm38)	missense	probably damaging	1.00
IGL01657:Klk10	APN	7	43,781,589 (GRCm38)	missense	possibly damaging	0.49
IGL02049:Klk10	APN	7	43,784,458 (GRCm38)	splice site	probably benign
IGL02725:Klk10	APN	7	43,781,620 (GRCm38)	missense	probably damaging	1.00
IGL03382:Klk10	APN	7	43,784,459 (GRCm38)	splice site	probably benign
R0433:Klk10	UTSW	7	43,781,565 (GRCm38)	missense	possibly damaging	0.51
R1580:Klk10	UTSW	7	43,782,862 (GRCm38)	missense	probably damaging	1.00
R4825:Klk10	UTSW	7	43,783,598 (GRCm38)	missense	probably damaging	1.00
R5969:Klk10	UTSW	7	43,784,985 (GRCm38)	missense	probably damaging	1.00
R6437:Klk10	UTSW	7	43,782,817 (GRCm38)	missense	probably benign	0.04
R6641:Klk10	UTSW	7	43,784,900 (GRCm38)	missense	possibly damaging	0.94
R7589:Klk10	UTSW	7	43,783,627 (GRCm38)	missense	probably benign	0.00
R7599:Klk10	UTSW	7	43,784,427 (GRCm38)	missense	probably benign	0.03
R7902:Klk10	UTSW	7	43,783,518 (GRCm38)	missense	probably benign	0.34
R8519:Klk10	UTSW	7	43,782,815 (GRCm38)	nonsense	probably null
R9560:Klk10	UTSW	7	43,784,322 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATTAACCCGGAACCGTGACTTGGC -3'
(R):5'- TGCGTTGCAGGCATATGAGGAG -3'

Sequencing Primer
(F):5'- CTGGGCGAAACCTGATCC -3'
(R):5'- GGTCTTAAATACAACATGCCCTGG -3'

Posted On

2014-04-13