Mutagenetix > Incidental Mutation

Incidental Mutation 'R4152:Klk14'

314947

Institutional Source

Beutler Lab

Gene Symbol

Klk14

Ensembl Gene

ENSMUSG00000044737

Gene Name

kallikrein related-peptidase 14

Synonyms

MMRRC Submission

040996-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4152 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43339842-43344960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43341501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 51 (C51Y)

Ref Sequence

ENSEMBL: ENSMUSP00000056935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056329]

AlphaFold

Q8CGR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000056329
AA Change: C51Y

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

SMART Domains

Protein: ENSMUSP00000056935
Gene: ENSMUSG00000044737
AA Change: C51Y

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Tryp_SPc	23	243	2.02e-93	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205416

Meta Mutation Damage Score

0.7935

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (45/47)

MGI Phenotype

FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The encoded protein is a precursor that undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. The encoded enzyme was found to activate the complement pathway by cleavage of C3 to release C3a anaphylotoxin. This gene is one of the several glandular kallikrein genes located in a cluster on chromosome 7. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,183,752 (GRCm39)	M31R	possibly damaging	Het
Akap6	A	C	12: 53,187,190 (GRCm39)	S1535R	probably benign	Het
Ap3b2	A	G	7: 81,127,765 (GRCm39)	I137T	probably damaging	Het
Cdc16	A	G	8: 13,812,857 (GRCm39)	S36G	probably damaging	Het
Clcn4	T	C	7: 7,297,833 (GRCm39)	N67D	probably benign	Het
Col4a1	T	C	8: 11,267,227 (GRCm39)		probably null	Het
Crem	G	T	18: 3,288,055 (GRCm39)	N179K	probably damaging	Het
Fam78b	T	C	1: 166,906,369 (GRCm39)	M176T	probably benign	Het
Fcgbpl1	T	A	7: 27,856,322 (GRCm39)	H2036Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,413 (GRCm39)		probably null	Het
Gm6483	T	C	8: 19,737,926 (GRCm39)		noncoding transcript	Het
Klk1b16	T	C	7: 43,789,973 (GRCm39)	F81S	probably benign	Het
Lpgat1	C	A	1: 191,451,600 (GRCm39)	Y36*	probably null	Het
Mavs	A	G	2: 131,088,528 (GRCm39)	D444G	probably benign	Het
Ndst3	T	C	3: 123,465,876 (GRCm39)	Y32C	probably damaging	Het
Nemp2	A	G	1: 52,680,210 (GRCm39)	S145G	probably benign	Het
Or52b1	T	C	7: 104,978,592 (GRCm39)	N269S	probably damaging	Het
Or7g20	T	A	9: 18,946,816 (GRCm39)	Y132*	probably null	Het
Or8g52	A	C	9: 39,631,296 (GRCm39)	M258L	probably benign	Het
Pds5a	A	T	5: 65,823,514 (GRCm39)	C92*	probably null	Het
Pgk2	A	G	17: 40,519,149 (GRCm39)	V93A	probably damaging	Het
Phf3	C	T	1: 30,870,539 (GRCm39)	V116I	probably benign	Het
Prl8a2	T	C	13: 27,534,985 (GRCm39)	Y86H	possibly damaging	Het
Rab4b	T	C	7: 26,875,551 (GRCm39)		probably benign	Het
Rsad1	T	C	11: 94,439,449 (GRCm39)		probably benign	Het
Sim1	G	A	10: 50,859,950 (GRCm39)	C604Y	probably damaging	Het
Slc5a3	T	A	16: 91,874,696 (GRCm39)	L251*	probably null	Het
Slit3	A	G	11: 35,589,147 (GRCm39)	N1234S	probably damaging	Het
Sntg1	A	T	1: 8,653,569 (GRCm39)		probably null	Het
Snx31	T	C	15: 36,525,785 (GRCm39)	N305D	probably benign	Het
St14	T	C	9: 31,001,802 (GRCm39)	I768V	probably benign	Het
Tep1	G	A	14: 51,075,051 (GRCm39)	H1755Y	possibly damaging	Het
Tlr6	A	C	5: 65,110,555 (GRCm39)	F784C	probably damaging	Het
Tmem132a	A	G	19: 10,836,427 (GRCm39)	V701A	probably benign	Het
Tspan15	A	T	10: 62,025,621 (GRCm39)	M197K	possibly damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Vegfb	T	C	19: 6,963,446 (GRCm39)	Y106C	probably damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,743,681 (GRCm39)		probably null	Het
Vmn2r18	T	A	5: 151,485,730 (GRCm39)	Q588L	probably damaging	Het
Vmn2r66	T	C	7: 84,654,800 (GRCm39)	D503G	probably benign	Het
Zc3h15	T	C	2: 83,488,913 (GRCm39)	V161A	probably benign	Het

Other mutations in Klk14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0309:Klk14	UTSW	7	43,343,769 (GRCm39)	missense	probably benign	0.01
R0467:Klk14	UTSW	7	43,343,534 (GRCm39)	missense	probably benign	0.33
R1432:Klk14	UTSW	7	43,344,342 (GRCm39)	missense	probably damaging	1.00
R1575:Klk14	UTSW	7	43,343,377 (GRCm39)	critical splice acceptor site	probably null
R2160:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R2185:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R2188:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R2189:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R2472:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R2474:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R2961:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R2962:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R2968:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R3147:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R3148:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R3176:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R3177:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R3276:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R3277:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R3418:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R3419:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R3430:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R3956:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4080:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4081:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4153:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4169:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4205:Klk14	UTSW	7	43,344,358 (GRCm39)	missense	probably benign	0.00
R4284:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4285:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4287:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4356:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4359:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4379:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4380:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4381:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4611:Klk14	UTSW	7	43,343,781 (GRCm39)	missense	probably damaging	1.00
R4684:Klk14	UTSW	7	43,341,392 (GRCm39)	missense	probably benign
R4784:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4792:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4793:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4825:Klk14	UTSW	7	43,341,500 (GRCm39)	missense	probably damaging	1.00
R4844:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4847:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4884:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4898:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4941:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4942:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4943:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4972:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R4997:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5021:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5022:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5024:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5053:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5054:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5056:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5057:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5097:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5253:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5257:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5459:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5489:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5490:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5493:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R5543:Klk14	UTSW	7	43,341,501 (GRCm39)	missense	probably damaging	1.00
R6823:Klk14	UTSW	7	43,343,880 (GRCm39)	nonsense	probably null
R7960:Klk14	UTSW	7	43,341,467 (GRCm39)	missense	probably damaging	1.00
R7993:Klk14	UTSW	7	43,344,367 (GRCm39)	missense	probably benign	0.01
R8220:Klk14	UTSW	7	43,343,498 (GRCm39)	missense	probably damaging	1.00
R8701:Klk14	UTSW	7	43,343,566 (GRCm39)	missense	possibly damaging	0.49
R8880:Klk14	UTSW	7	43,343,459 (GRCm39)	missense	probably damaging	0.99
X0064:Klk14	UTSW	7	43,343,534 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AAGATCTCTGTCTGCTGGGC -3'
(R):5'- GGCAAGGGTTCTACATACACTCTG -3'

Sequencing Primer
(F):5'- ATCTCTGTCTGCTGGGCATTGG -3'
(R):5'- TGAATTATGCCTCTCAGCCTAG -3'

Posted On

2015-05-14