Mutagenetix > Incidental Mutation

Incidental Mutation 'R4169:Klk14'

320691

Institutional Source

Beutler Lab

Gene Symbol

Klk14

Ensembl Gene

ENSMUSG00000044737

Gene Name

kallikrein related-peptidase 14

Synonyms

MMRRC Submission

041010-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4169 (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: 95.8%

Validation Efficiency

98% (48/49)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	T	C	4: 152,302,250 (GRCm39)	C121R	probably damaging	Het
Ampd1	T	A	3: 103,002,157 (GRCm39)	M546K	probably damaging	Het
Birc2	T	A	9: 7,849,684 (GRCm39)	D535V	possibly damaging	Het
Btn1a1	A	G	13: 23,649,325 (GRCm39)	L9P	probably benign	Het
Cmip	A	T	8: 118,183,656 (GRCm39)	N743I	probably damaging	Het
Col4a2	C	T	8: 11,479,391 (GRCm39)	P758L	probably benign	Het
Ddx50	A	T	10: 62,476,549 (GRCm39)	Y241*	probably null	Het
Elk3	A	G	10: 93,101,197 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,205,872 (GRCm39)	T1042A	possibly damaging	Het
Gm5445	A	G	13: 12,393,527 (GRCm39)		noncoding transcript	Het
Gnat3	T	C	5: 18,208,862 (GRCm39)	F189L	probably damaging	Het
Hectd1	T	C	12: 51,837,008 (GRCm39)	T815A	probably damaging	Het
Hmcn1	A	C	1: 150,471,750 (GRCm39)		probably null	Het
Hrc	A	G	7: 44,986,181 (GRCm39)	D444G	probably benign	Het
Ighv1-53	T	A	12: 115,122,166 (GRCm39)	I70F	possibly damaging	Het
Kat7	A	G	11: 95,171,298 (GRCm39)	F469L	probably damaging	Het
Krt81	T	A	15: 101,359,193 (GRCm39)	M242L	probably benign	Het
Krtap6-1	A	G	16: 88,828,584 (GRCm39)		probably null	Het
Man2c1	A	G	9: 57,045,310 (GRCm39)	D473G	probably benign	Het
Mthfr-ps1	T	C	5: 78,622,436 (GRCm39)		noncoding transcript	Het
Nop53	A	T	7: 15,676,244 (GRCm39)	W152R	probably benign	Het
Or5p58	A	T	7: 107,694,591 (GRCm39)	M62K	probably damaging	Het
Or6y1	T	A	1: 174,277,162 (GRCm39)	S324R	unknown	Het
Or8s8	A	G	15: 98,354,878 (GRCm39)	E229G	probably benign	Het
Pcdh1	A	T	18: 38,331,358 (GRCm39)	N548K	probably damaging	Het
Pcdhga12	A	G	18: 37,899,467 (GRCm39)	I100V	probably benign	Het
Piezo2	T	C	18: 63,183,675 (GRCm39)	H1743R	probably benign	Het
Pkdrej	A	G	15: 85,700,515 (GRCm39)	V1807A	probably benign	Het
Rabl2	T	C	15: 89,474,582 (GRCm39)	M1V	probably null	Het
Rexo5	A	G	7: 119,426,621 (GRCm39)		probably benign	Het
Rfng	C	G	11: 120,674,772 (GRCm39)	G73R	probably benign	Het
Rps6ka4	A	G	19: 6,809,188 (GRCm39)	L459P	possibly damaging	Het
Samd11	T	A	4: 156,332,203 (GRCm39)	D536V	probably damaging	Het
Slc9a5	A	G	8: 106,084,032 (GRCm39)	T451A	possibly damaging	Het
Snapc1	T	A	12: 74,029,265 (GRCm39)	N349K	probably benign	Het
Sox1ot	A	G	8: 12,480,544 (GRCm39)		noncoding transcript	Het
Tmem178	C	T	17: 81,252,232 (GRCm39)	H39Y	possibly damaging	Het
Trav8n-2	A	T	14: 53,583,875 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	A	2: 76,703,103 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,762,909 (GRCm39)	D3250G	probably damaging	Het
Ube2nl	T	A	7: 61,199,380 (GRCm39)		noncoding transcript	Het
Vps25	T	C	11: 101,144,918 (GRCm39)	S39P	probably damaging	Het
Zkscan14	G	A	5: 145,132,985 (GRCm39)	T182I	possibly 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
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'- GATGGCAAGGGTTCTACATACAC -3'

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

Posted On

2015-06-12