Mutagenetix > Incidental Mutation

Incidental Mutation 'R9037:Klk12'

687468

Institutional Source

Beutler Lab

Gene Symbol

Klk12

Ensembl Gene

ENSMUSG00000044430

Gene Name

kallikrein related-peptidase 12

Synonyms

KLK-L5, 2310008B01Rik

MMRRC Submission

068969-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R9037 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43418346-43423005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43419139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 35 (W35R)

Ref Sequence

ENSEMBL: ENSMUSP00000014063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014063] [ENSMUST00000080211] [ENSMUST00000107970]

AlphaFold

B2RVZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000014063
AA Change: W35R

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

SMART Domains

Protein: ENSMUSP00000014063
Gene: ENSMUSG00000044430
AA Change: W35R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	21	240	1.3e-91	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 damaging
Transcript: ENSMUST00000107970
AA Change: W35R

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

SMART Domains

Protein: ENSMUSP00000103604
Gene: ENSMUSG00000044430
AA Change: W35R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	21	240	1.3e-91	SMART

Meta Mutation Damage Score

0.9716

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (66/66)

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. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	T	A	18: 61,952,066 (GRCm39)	I432F	probably benign	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Adcy1	A	G	11: 7,087,325 (GRCm39)	T400A	possibly damaging	Het
Afap1l2	A	T	19: 56,918,403 (GRCm39)		probably benign	Het
Anapc4	C	A	5: 53,021,843 (GRCm39)	Q642K	probably benign	Het
Ano8	A	G	8: 71,937,088 (GRCm39)	F160S	probably damaging	Het
Apob	T	C	12: 8,066,501 (GRCm39)	V4490A	probably benign	Het
Bcar1	A	C	8: 112,447,522 (GRCm39)	F152V	probably benign	Het
Cacna2d2	A	G	9: 107,386,395 (GRCm39)	D174G	probably benign	Het
Capn11	T	C	17: 45,950,357 (GRCm39)	K328R	probably benign	Het
Colq	C	A	14: 31,279,744 (GRCm39)		probably benign	Het
Coro1a	A	C	7: 126,299,772 (GRCm39)	M350R	probably benign	Het
Ctbp1	T	A	5: 33,424,352 (GRCm39)	M24L	probably benign	Het
Cyp2c55	T	A	19: 39,030,537 (GRCm39)	F456L	probably damaging	Het
Dnah5	A	T	15: 28,248,104 (GRCm39)	K747M	probably benign	Het
Efcab3	A	G	11: 104,803,791 (GRCm39)	D3048G	unknown	Het
Esp36	C	T	17: 38,729,840 (GRCm39)	G60D	unknown	Het
Gast	A	G	11: 100,227,436 (GRCm39)	E43G	probably damaging	Het
Gm5849	T	G	3: 90,685,155 (GRCm39)	N10T	probably benign	Het
Gulp1	T	C	1: 44,793,524 (GRCm39)	S62P	probably benign	Het
Hectd1	T	C	12: 51,832,665 (GRCm39)	D903G	possibly damaging	Het
Hk2	T	A	6: 82,720,339 (GRCm39)	I201F	probably benign	Het
Ifna2	T	C	4: 88,601,664 (GRCm39)	D118G	probably benign	Het
Ift172	T	C	5: 31,420,400 (GRCm39)	K1079E	possibly damaging	Het
Igsf9	T	C	1: 172,312,081 (GRCm39)	V9A	probably benign	Het
Ints2	G	A	11: 86,106,530 (GRCm39)	T960I	probably benign	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Macf1	T	C	4: 123,365,518 (GRCm39)	N3081S	probably benign	Het
Mal2	A	G	15: 54,434,939 (GRCm39)	N12S	unknown	Het
Mgat1	T	G	11: 49,152,256 (GRCm39)	N246K	probably damaging	Het
Mpeg1	T	A	19: 12,439,190 (GRCm39)	V216E	probably damaging	Het
Mpo	A	G	11: 87,688,557 (GRCm39)		probably benign	Het
Mtmr9	T	A	14: 63,761,532 (GRCm39)	T541S	possibly damaging	Het
Or4a73	C	T	2: 89,421,051 (GRCm39)	R136Q	probably benign	Het
Or51b6b	T	A	7: 103,310,382 (GRCm39)	H25L	probably benign	Het
Or5ak25	T	C	2: 85,269,139 (GRCm39)	D121G	possibly damaging	Het
Or8k3	G	T	2: 86,059,042 (GRCm39)	T91K	probably benign	Het
P2rx6	A	G	16: 17,388,307 (GRCm39)	T328A	possibly damaging	Het
Pcdhb12	A	C	18: 37,569,229 (GRCm39)	E125A	probably benign	Het
Pde3a	C	A	6: 141,416,832 (GRCm39)	Q569K	probably damaging	Het
Pepd	A	T	7: 34,720,398 (GRCm39)	Q227L	probably benign	Het
Piezo2	T	A	18: 63,225,902 (GRCm39)	E911D	probably benign	Het
Pnpla6	A	T	8: 3,592,379 (GRCm39)	R1241*	probably null	Het
Pold1	T	C	7: 44,188,339 (GRCm39)	D513G	probably damaging	Het
Polr1d	A	T	5: 147,015,490 (GRCm39)	I58L	probably benign	Het
Ppif	T	C	14: 25,694,828 (GRCm39)	L58P	probably damaging	Het
Preb	T	C	5: 31,116,590 (GRCm39)	K101R	probably benign	Het
Psma8	G	T	18: 14,854,251 (GRCm39)	V44L	probably benign	Het
Ptf1a	A	G	2: 19,451,036 (GRCm39)	Y122C	possibly damaging	Het
Ranbp6	T	C	19: 29,790,317 (GRCm39)	T12A	probably benign	Het
Rasal3	C	A	17: 32,614,094 (GRCm39)	R587L	probably benign	Het
Rnf146	T	C	10: 29,223,676 (GRCm39)	K70R	probably benign	Het
Serpinb6b	G	T	13: 33,161,998 (GRCm39)	E266*	probably null	Het
Slc15a2	A	T	16: 36,582,725 (GRCm39)	M252K	probably benign	Het
Slc2a1	T	C	4: 118,993,494 (GRCm39)	F444L	probably damaging	Het
Sox9	A	G	11: 112,675,650 (GRCm39)	S280G	probably damaging	Het
Spata31e4	A	G	13: 50,856,944 (GRCm39)	K861E	probably benign	Het
Trappc8	A	G	18: 20,961,539 (GRCm39)	V1243A	probably benign	Het
Trpv2	A	T	11: 62,475,231 (GRCm39)	T215S	probably damaging	Het
Ttc39a	A	G	4: 109,299,981 (GRCm39)	E490G	probably damaging	Het
Ush2a	A	T	1: 187,995,487 (GRCm39)	D86V	possibly damaging	Het
Usp24	A	G	4: 106,236,251 (GRCm39)	T980A	probably damaging	Het
Vwa7	T	C	17: 35,236,268 (GRCm39)	V74A	probably benign	Het
Zan	A	G	5: 137,452,578 (GRCm39)	V1501A	unknown	Het
Zfp105	A	G	9: 122,758,836 (GRCm39)	E169G	possibly damaging	Het
Zfp788	C	T	7: 41,298,315 (GRCm39)	T317I	probably damaging	Het

Other mutations in Klk12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02508:Klk12	APN	7	43,419,113 (GRCm39)	missense	probably benign	0.18
R4465:Klk12	UTSW	7	43,422,807 (GRCm39)	missense	probably damaging	1.00
R4467:Klk12	UTSW	7	43,422,807 (GRCm39)	missense	probably damaging	1.00
R4575:Klk12	UTSW	7	43,422,667 (GRCm39)	missense	probably damaging	1.00
R4576:Klk12	UTSW	7	43,422,667 (GRCm39)	missense	probably damaging	1.00
R4577:Klk12	UTSW	7	43,422,667 (GRCm39)	missense	probably damaging	1.00
R4578:Klk12	UTSW	7	43,422,667 (GRCm39)	missense	probably damaging	1.00
R5480:Klk12	UTSW	7	43,420,482 (GRCm39)	missense	probably benign	0.03
R6834:Klk12	UTSW	7	43,422,772 (GRCm39)	missense	possibly damaging	0.59
R7235:Klk12	UTSW	7	43,422,723 (GRCm39)	missense	probably damaging	0.98
R7468:Klk12	UTSW	7	43,422,780 (GRCm39)	missense	probably damaging	1.00
R7644:Klk12	UTSW	7	43,419,134 (GRCm39)	missense	probably damaging	1.00
R8698:Klk12	UTSW	7	43,419,113 (GRCm39)	missense	probably benign	0.18
R8994:Klk12	UTSW	7	43,421,485 (GRCm39)	missense	probably damaging	0.98
X0064:Klk12	UTSW	7	43,420,342 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGTGGCAGATCTCTTGCCC -3'
(R):5'- GCCTCGTCCTACCTAGCAAC -3'

Sequencing Primer
(F):5'- GGGATGTCAACCATAGGCTACC -3'
(R):5'- GTCCTACCTAGCAACACCCAG -3'

Posted On

2021-11-19