Mutagenetix > Incidental Mutations

Incidental Mutation 'R1580:Klk10'

171352

Institutional Source

Beutler Lab

Gene Symbol

Klk10

Ensembl Gene

ENSMUSG00000030693

Gene Name

kallikrein related-peptidase 10

Synonyms

NES1, PRSSL1, 2300002A13Rik

MMRRC Submission

039617-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1580 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

43781035-43785410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43782862 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 73 (A73V)

Ref Sequence

ENSEMBL: ENSMUSP00000014058 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000014058
AA Change: A73V

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

SMART Domains

Protein: ENSMUSP00000014058
Gene: ENSMUSG00000030693
AA Change: A73V

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

Meta Mutation Damage Score

0.6850

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.8%

Validation Efficiency

96% (43/45)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,265,965	V2044I	possibly damaging	Het
Adgrv1	A	G	13: 81,466,160		probably null	Het
Arhgef38	T	C	3: 133,133,704	Q526R	probably benign	Het
Atp2c2	A	G	8: 119,752,987	N752D	probably benign	Het
Atp6v0a1	T	C	11: 101,029,204	I221T	probably damaging	Het
Atp8b5	T	C	4: 43,355,673	V551A	possibly damaging	Het
B3galnt1	A	G	3: 69,575,707	S74P	possibly damaging	Het
Bcl2l13	A	G	6: 120,865,714	I123V	probably benign	Het
Brms1l	A	T	12: 55,868,222	K305N	probably damaging	Het
Ccdc82	C	T	9: 13,252,760	R226C	probably damaging	Het
Chst9	T	G	18: 15,453,065	K147T	probably benign	Het
Clec16a	A	G	16: 10,595,898	R390G	probably damaging	Het
Clec5a	G	T	6: 40,585,219	H4N	probably benign	Het
Csmd1	T	A	8: 15,925,299	Q2970L	probably damaging	Het
Cyp2a4	T	C	7: 26,307,651	I61T	possibly damaging	Het
Cyp3a16	T	A	5: 145,442,074	K379I	possibly damaging	Het
Cyp3a16	T	C	5: 145,442,075	K379E	probably damaging	Het
Dok2	A	G	14: 70,776,957	D195G	probably benign	Het
Emilin1	A	G	5: 30,917,420	E335G	probably damaging	Het
Fam205c	T	C	4: 42,874,020		probably null	Het
Gm7361	G	T	5: 26,257,770	L3F	probably damaging	Het
Haus1	T	C	18: 77,766,920	D50G	probably damaging	Het
Igf1r	T	C	7: 68,207,869	V1099A	probably benign	Het
Kif15	T	C	9: 122,959,956	V71A	probably benign	Het
Lins1	C	A	7: 66,714,491	D711E	probably benign	Het
Mbtps1	C	T	8: 119,538,900	V303I	possibly damaging	Het
Mest	G	A	6: 30,745,823		probably benign	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr299	A	G	7: 86,465,450	E13G	probably benign	Het
Olfr800	G	T	10: 129,660,315	V170F	probably benign	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Sbspon	C	A	1: 15,892,468	C62F	probably damaging	Het
Spg7	T	A	8: 123,090,238		probably benign	Het
Trabd2b	T	C	4: 114,580,334	V236A	possibly damaging	Het
Vmn2r10	A	T	5: 109,006,251	N62K	possibly damaging	Het
Vmn2r45	T	G	7: 8,471,747	S761R	possibly damaging	Het
Zfp580	C	T	7: 5,053,285	R215C	probably damaging	Het
Zfpm2	A	G	15: 41,103,209	D898G	possibly damaging	Het

Other mutations in Klk10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01488:Klk10	APN	7	43784976	missense	probably damaging	1.00
IGL01657:Klk10	APN	7	43781589	missense	possibly damaging	0.49
IGL02049:Klk10	APN	7	43784458	splice site	probably benign
IGL02725:Klk10	APN	7	43781620	missense	probably damaging	1.00
IGL03382:Klk10	APN	7	43784459	splice site	probably benign
R0433:Klk10	UTSW	7	43781565	missense	possibly damaging	0.51
R1521:Klk10	UTSW	7	43782880	missense	probably benign	0.00
R4825:Klk10	UTSW	7	43783598	missense	probably damaging	1.00
R5969:Klk10	UTSW	7	43784985	missense	probably damaging	1.00
R6437:Klk10	UTSW	7	43782817	missense	probably benign	0.04
R6641:Klk10	UTSW	7	43784900	missense	possibly damaging	0.94
R7589:Klk10	UTSW	7	43783627	missense	probably benign	0.00
R7599:Klk10	UTSW	7	43784427	missense	probably benign	0.03
R7902:Klk10	UTSW	7	43783518	missense	probably benign	0.34
R8519:Klk10	UTSW	7	43782815	nonsense	probably null

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