Mutagenetix > Incidental Mutation

Incidental Mutation 'R5021:Klk14'

389190

Institutional Source

Beutler Lab

Gene Symbol

Klk14

Ensembl Gene

ENSMUSG00000044737

Gene Name

kallikrein related-peptidase 14

Synonyms

MMRRC Submission

042612-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5021 (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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.8%

Validation Efficiency

95% (39/41)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano5	A	T	7: 51,205,933 (GRCm39)	T242S	probably benign	Het
B3gnt4	G	C	5: 123,649,010 (GRCm39)	R125P	probably damaging	Het
Blvrb	A	C	7: 27,147,543 (GRCm39)	M1L	probably benign	Het
Cep112	T	A	11: 108,361,154 (GRCm39)	H169Q	possibly damaging	Het
Clcn1	A	T	6: 42,287,922 (GRCm39)	K718*	probably null	Het
Clhc1	A	G	11: 29,510,627 (GRCm39)	N226S	probably benign	Het
Cpne1	T	C	2: 155,940,193 (GRCm39)		probably benign	Het
Cspg4	G	A	9: 56,805,014 (GRCm39)	V1942I	probably benign	Het
Decr2	A	T	17: 26,301,980 (GRCm39)	L250Q	probably damaging	Het
Depdc5	A	G	5: 33,136,758 (GRCm39)	T1343A	probably damaging	Het
Eed	A	T	7: 89,621,513 (GRCm39)	L45M	probably damaging	Het
Ep300	T	A	15: 81,524,224 (GRCm39)	S1351T	unknown	Het
Fam184b	T	A	5: 45,730,604 (GRCm39)	Q476L	probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Ift122	A	G	6: 115,841,333 (GRCm39)	D39G	probably benign	Het
Igf2bp1	A	G	11: 95,864,832 (GRCm39)	Y206H	probably damaging	Het
Ighv1-19	T	C	12: 114,672,686 (GRCm39)	I6V	probably benign	Het
Itm2c	T	C	1: 85,833,059 (GRCm39)	I131T	probably damaging	Het
Kcnd3	A	T	3: 105,566,070 (GRCm39)	D417V	probably damaging	Het
Klf4	T	C	4: 55,530,970 (GRCm39)	E38G	probably damaging	Het
Lct	T	C	1: 128,228,302 (GRCm39)	M1064V	probably benign	Het
Map4	C	T	9: 109,867,157 (GRCm39)	Q265*	probably null	Het
Mcf2l	T	G	8: 13,061,808 (GRCm39)	V893G	probably damaging	Het
Mlst8	C	T	17: 24,696,193 (GRCm39)	D179N	possibly damaging	Het
Mup6	T	A	4: 59,964,352 (GRCm39)	N18K	probably damaging	Het
Nbeal2	G	A	9: 110,466,531 (GRCm39)	R764W	probably damaging	Het
Ncoa6	A	T	2: 155,248,869 (GRCm39)	S1478R	probably benign	Het
Pcdhga1	C	A	18: 37,796,876 (GRCm39)	R627S	probably damaging	Het
Sacm1l	A	G	9: 123,411,393 (GRCm39)	D394G	probably damaging	Het
Schip1	A	G	3: 68,402,585 (GRCm39)	T221A	probably benign	Het
Slc35c1	A	G	2: 92,289,366 (GRCm39)	Y47H	possibly damaging	Het
Tspan32	A	G	7: 142,568,715 (GRCm39)	D70G	probably damaging	Het
Vmn2r68	T	C	7: 84,882,942 (GRCm39)	Y270C	possibly damaging	Het
Zfp777	A	G	6: 48,019,061 (GRCm39)	V291A	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
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
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'- AAAGATCTCTGTCTGCTGGGC -3'
(R):5'- GGCAAGGGTTCTACATACACTC -3'

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

Posted On

2016-06-06