Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01344:Mcpt8'

74982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcpt8

Ensembl Gene

ENSMUSG00000022157

Gene Name

mast cell protease 8

Synonyms

MMCP-8

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01344

Quality Score

Status

Chromosome

Chromosomal Location

56319623-56322730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56321402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 21 (I21F)

Ref Sequence

ENSEMBL: ENSMUSP00000015594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015594] [ENSMUST00000225107]

AlphaFold

P43430

Predicted Effect

probably damaging
Transcript: ENSMUST00000015594
AA Change: I21F

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

SMART Domains

Protein: ENSMUSP00000015594
Gene: ENSMUSG00000022157
AA Change: I21F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	20	237	1.65e-75	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184701

Predicted Effect

probably damaging
Transcript: ENSMUST00000225107
AA Change: I21F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-in mutation that allows diphtheria toxin-mediated basophil depletion before the second tick infestation exhibit loss of acquired tick resistance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	A	G	2: 156,699,020 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,923,139 (GRCm39)	K237R	possibly damaging	Het
Antxrl	A	C	14: 33,797,554 (GRCm39)	M510L	probably benign	Het
Bdp1	T	C	13: 100,214,588 (GRCm39)	D417G	probably benign	Het
C3	T	G	17: 57,531,880 (GRCm39)	N250T	probably benign	Het
Cacna2d1	T	A	5: 16,575,629 (GRCm39)	I1073K	probably benign	Het
Ccin	A	T	4: 43,984,069 (GRCm39)	N159Y	probably damaging	Het
Cep76	T	C	18: 67,756,467 (GRCm39)	T455A	possibly damaging	Het
Chaf1a	T	A	17: 56,371,104 (GRCm39)	V663E	probably damaging	Het
Chit1	T	C	1: 134,079,052 (GRCm39)	F454S	probably damaging	Het
Cimip2a	A	T	2: 25,110,345 (GRCm39)	I86F	possibly damaging	Het
Clasp2	A	G	9: 113,642,360 (GRCm39)		probably null	Het
Ctcfl	G	T	2: 172,936,527 (GRCm39)	A615E	possibly damaging	Het
Edaradd	T	C	13: 12,493,371 (GRCm39)	D107G	probably damaging	Het
Efl1	T	C	7: 82,330,688 (GRCm39)		probably benign	Het
Eps15l1	A	G	8: 73,136,169 (GRCm39)		probably null	Het
Fahd2a	T	C	2: 127,283,987 (GRCm39)	K18E	probably benign	Het
Fbxl20	A	T	11: 97,990,926 (GRCm39)	C147*	probably null	Het
Gsap	G	T	5: 21,447,881 (GRCm39)		probably null	Het
Gtse1	A	T	15: 85,746,267 (GRCm39)		probably null	Het
Kcp	A	T	6: 29,498,950 (GRCm39)		probably null	Het
Llgl2	A	G	11: 115,742,019 (GRCm39)	D687G	probably benign	Het
Met	C	A	6: 17,547,031 (GRCm39)	S888Y	probably benign	Het
Mrtfa	T	C	15: 80,900,503 (GRCm39)	T663A	probably damaging	Het
Ngf	A	G	3: 102,427,628 (GRCm39)	T130A	probably benign	Het
Otud7b	T	A	3: 96,058,297 (GRCm39)		probably benign	Het
Preb	C	T	5: 31,113,388 (GRCm39)	V349M	probably damaging	Het
Prmt1	G	T	7: 44,627,059 (GRCm39)		probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Ptprt	T	A	2: 161,393,737 (GRCm39)	D1209V	probably damaging	Het
Rigi	G	A	4: 40,208,883 (GRCm39)	T698I	probably damaging	Het
Sh3bp4	A	G	1: 89,080,958 (GRCm39)	N925S	probably benign	Het
Skint3	T	A	4: 112,147,519 (GRCm39)	M414K	possibly damaging	Het
Skor1	A	T	9: 63,049,560 (GRCm39)	S787R	possibly damaging	Het
Slc12a7	T	A	13: 73,940,856 (GRCm39)	I288N	probably damaging	Het
Smg1	A	G	7: 117,790,059 (GRCm39)		probably benign	Het
Tpp2	C	T	1: 44,022,422 (GRCm39)	T940I	probably benign	Het
Trappc11	A	T	8: 47,972,739 (GRCm39)	I278N	probably damaging	Het
Umodl1	G	A	17: 31,215,238 (GRCm39)	V1021I	probably damaging	Het
Usp24	T	C	4: 106,236,582 (GRCm39)	S1059P	possibly damaging	Het

Other mutations in Mcpt8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Mcpt8	APN	14	56,319,864 (GRCm39)	splice site	probably null
R0973:Mcpt8	UTSW	14	56,321,257 (GRCm39)	splice site	probably benign
R1472:Mcpt8	UTSW	14	56,319,791 (GRCm39)	missense	probably benign	0.02
R1908:Mcpt8	UTSW	14	56,321,291 (GRCm39)	missense	probably benign	0.03
R2131:Mcpt8	UTSW	14	56,319,740 (GRCm39)	missense	probably damaging	1.00
R3123:Mcpt8	UTSW	14	56,321,398 (GRCm39)	missense	probably damaging	0.98
R3124:Mcpt8	UTSW	14	56,321,398 (GRCm39)	missense	probably damaging	0.98
R3125:Mcpt8	UTSW	14	56,321,398 (GRCm39)	missense	probably damaging	0.98
R4209:Mcpt8	UTSW	14	56,321,375 (GRCm39)	missense	probably damaging	1.00
R4211:Mcpt8	UTSW	14	56,321,375 (GRCm39)	missense	probably damaging	1.00
R4658:Mcpt8	UTSW	14	56,321,285 (GRCm39)	missense	possibly damaging	0.46
R4860:Mcpt8	UTSW	14	56,319,737 (GRCm39)	missense	probably benign	0.02
R4860:Mcpt8	UTSW	14	56,319,737 (GRCm39)	missense	probably benign	0.02
R5457:Mcpt8	UTSW	14	56,319,793 (GRCm39)	missense	probably benign	0.04
R5900:Mcpt8	UTSW	14	56,319,740 (GRCm39)	missense	probably damaging	1.00
R6334:Mcpt8	UTSW	14	56,322,604 (GRCm39)	missense	possibly damaging	0.90
R6339:Mcpt8	UTSW	14	56,319,794 (GRCm39)	missense	probably benign	0.00
R7505:Mcpt8	UTSW	14	56,320,548 (GRCm39)	missense	probably benign	0.05
Z1177:Mcpt8	UTSW	14	56,319,793 (GRCm39)	missense	probably benign	0.02

Posted On

2013-10-07