Mutagenetix > Incidental Mutation

Incidental Mutation 'R4285:Klk14'

322027

Institutional Source

Beutler Lab

Gene Symbol

Klk14

Ensembl Gene

ENSMUSG00000044737

Gene Name

kallikrein related-peptidase 14

Synonyms

MMRRC Submission

041080-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4285 (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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (42/43)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	G	A	3: 116,545,827 (GRCm39)	S1323L	possibly damaging	Het
Ahnak	T	A	19: 8,994,203 (GRCm39)	C5162*	probably null	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cfap73	T	C	5: 120,770,654 (GRCm39)	K39E	possibly damaging	Het
Coq6	C	T	12: 84,417,178 (GRCm39)		probably benign	Het
Dlc1	C	T	8: 37,041,282 (GRCm39)	E1316K	possibly damaging	Het
Dscam	A	G	16: 96,510,309 (GRCm39)		probably null	Het
Eya2	T	A	2: 165,566,700 (GRCm39)	N250K	probably benign	Het
Fat4	A	G	3: 38,943,320 (GRCm39)	I738V	probably benign	Het
Gria2	T	G	3: 80,614,969 (GRCm39)		probably benign	Het
Hnrnph3	A	T	10: 62,852,247 (GRCm39)	D238E	probably damaging	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Kctd19	G	A	8: 106,109,581 (GRCm39)		probably benign	Het
Kdm1a	T	C	4: 136,309,347 (GRCm39)		probably null	Het
Lamc1	C	A	1: 153,110,298 (GRCm39)	G1126W	probably damaging	Het
Magi3	C	A	3: 103,923,184 (GRCm39)	G1178*	probably null	Het
Man2a2	T	C	7: 80,018,367 (GRCm39)	D141G	probably damaging	Het
Map2k1	C	A	9: 64,119,925 (GRCm39)	V127L	probably damaging	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mxd3	A	G	13: 55,477,167 (GRCm39)	S31P	probably benign	Het
Myo5b	G	A	18: 74,847,920 (GRCm39)	E1053K	probably benign	Het
Nup50l	T	C	6: 96,142,733 (GRCm39)	T104A	probably benign	Het
Or2m12	A	C	16: 19,104,714 (GRCm39)	F260V	probably damaging	Het
Or51a5	G	T	7: 102,771,867 (GRCm39)	Y37*	probably null	Het
Pex5l	A	G	3: 33,061,336 (GRCm39)	I171T	probably damaging	Het
Plag1	A	G	4: 3,905,654 (GRCm39)	V12A	probably benign	Het
Podn	C	A	4: 107,878,893 (GRCm39)	V180L	possibly damaging	Het
Prox2	T	A	12: 85,141,698 (GRCm39)	R168S	probably benign	Het
Prss29	A	G	17: 25,541,231 (GRCm39)	Y225C	probably damaging	Het
Rassf2	G	A	2: 131,847,314 (GRCm39)	T97I	probably benign	Het
Samm50	T	C	15: 84,081,213 (GRCm39)	V47A	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc20a2	G	A	8: 23,051,365 (GRCm39)	R466Q	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
St6galnac3	A	C	3: 152,912,360 (GRCm39)	V161G	probably benign	Het
Unc5c	T	C	3: 141,420,435 (GRCm39)	I52T	probably damaging	Het
Vat1l	A	G	8: 114,932,523 (GRCm39)	E23G	probably damaging	Het
Vmn2r91	A	G	17: 18,356,030 (GRCm39)	T566A	probably benign	Het
Wls	A	T	3: 159,639,902 (GRCm39)	H511L	probably benign	Het
Zfp644	G	A	5: 106,782,984 (GRCm39)	T1130I	probably damaging	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
R4152: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
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'- ATGGCAAGGGTTCTACATACAC -3'

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

Posted On

2015-06-20