Mutagenetix > Incidental Mutation

Incidental Mutation 'R3148:Klk14'

264323

Institutional Source

Beutler Lab

Gene Symbol

Klk14

Ensembl Gene

ENSMUSG00000044737

Gene Name

kallikrein related-peptidase 14

Synonyms

MMRRC Submission

040600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3148 (G1)

Quality Score

225

Status

Not 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: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	C	X: 66,964,984 (GRCm39)	D12G	probably benign	Het
Adamts18	C	A	8: 114,465,490 (GRCm39)	V701L	probably damaging	Het
Alg2	A	T	4: 47,472,259 (GRCm39)	V183D	probably damaging	Het
Ank2	T	C	3: 126,726,724 (GRCm39)	I857V	probably benign	Het
Asb15	G	T	6: 24,566,258 (GRCm39)	A404S	probably damaging	Het
Baalc	A	T	15: 38,812,568 (GRCm39)	E106V	possibly damaging	Het
Catsperd	G	T	17: 56,971,039 (GRCm39)	C701F	possibly damaging	Het
Cc2d2a	T	A	5: 43,866,497 (GRCm39)	I769N	probably damaging	Het
Cntnap4	A	G	8: 113,484,071 (GRCm39)	T375A	probably damaging	Het
Col7a1	A	G	9: 108,790,473 (GRCm39)	T974A	unknown	Het
Ehbp1	T	C	11: 22,050,465 (GRCm39)	Y502C	probably damaging	Het
Kcnj11	C	T	7: 45,748,544 (GRCm39)	V260I	probably benign	Het
Marf1	A	G	16: 13,943,843 (GRCm39)	V1380A	possibly damaging	Het
Or4k36	T	C	2: 111,146,633 (GRCm39)	F270L	possibly damaging	Het
Otog	T	C	7: 45,939,593 (GRCm39)	L2124P	probably damaging	Het
Pam	T	A	1: 97,823,403 (GRCm39)	N256I	possibly damaging	Het
Pcbp1	C	T	6: 86,502,471 (GRCm39)	E143K	probably damaging	Het
Pramel21	A	T	4: 143,344,047 (GRCm39)	D449V	probably benign	Het
Prrx1	T	C	1: 163,085,417 (GRCm39)	D171G	probably benign	Het
Rasal2	A	T	1: 157,071,334 (GRCm39)		probably benign	Het
Serpinb5	T	A	1: 106,809,555 (GRCm39)	H320Q	probably damaging	Het
Snx4	A	C	16: 33,108,094 (GRCm39)	D296A	probably benign	Het
Sorcs2	T	C	5: 36,193,132 (GRCm39)	Q778R	probably benign	Het
Spata16	T	C	3: 26,932,861 (GRCm39)		probably null	Het
Tcerg1l	G	T	7: 137,861,596 (GRCm39)	Q378K	probably benign	Het
Trpm1	T	C	7: 63,884,760 (GRCm39)	Y814H	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
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
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'- ATGGCAAGGGTTCTACATACACTC -3'

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

Posted On

2015-02-05