Mutagenetix > Incidental Mutation

Incidental Mutation 'R3125:Mcpt8'

264259

Institutional Source

Beutler Lab

Gene Symbol

Mcpt8

Ensembl Gene

ENSMUSG00000022157

Gene Name

mast cell protease 8

Synonyms

MMCP-8

MMRRC Submission

040598-MU

Accession Numbers

Essential gene?

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

Stock #

R3125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56319623-56322730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56321398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 22 (I22K)

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: I22K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015594
Gene: ENSMUSG00000022157
AA Change: I22K

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

possibly damaging
Transcript: ENSMUST00000225107
AA Change: I22K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	A	T	6: 116,404,098 (GRCm39)		probably null	Het
Aoc1l1	A	T	6: 48,952,305 (GRCm39)	I77F	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Cep135	T	C	5: 76,769,210 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,716,310 (GRCm39)	H385L	possibly damaging	Het
Dach2	T	C	X: 112,729,664 (GRCm39)	I417T	possibly damaging	Het
Dcaf8l	A	T	X: 88,448,327 (GRCm39)	Y601N	probably benign	Het
Dhx32	T	C	7: 133,327,085 (GRCm39)	Y332C	probably damaging	Het
Dlx1	T	A	2: 71,362,740 (GRCm39)	W216R	probably damaging	Het
Dna2	G	A	10: 62,784,981 (GRCm39)	A33T	possibly damaging	Het
Dyrk1a	G	A	16: 94,469,660 (GRCm39)		probably benign	Het
Fam227b	T	C	2: 125,966,006 (GRCm39)	T140A	probably benign	Het
Fem1b	T	C	9: 62,703,836 (GRCm39)	I475V	probably benign	Het
Fign	T	A	2: 63,809,044 (GRCm39)	Q742L	possibly damaging	Het
Hip1r	A	G	5: 124,138,204 (GRCm39)	D766G	probably benign	Het
Hsd17b12	C	T	2: 93,864,303 (GRCm39)	R268Q	probably benign	Het
Htt	T	C	5: 34,961,875 (GRCm39)	S287P	probably benign	Het
Icam5	A	G	9: 20,947,954 (GRCm39)	I617M	probably benign	Het
Ifi27l2b	T	C	12: 103,417,594 (GRCm39)	T198A	unknown	Het
Ip6k3	T	C	17: 27,376,516 (GRCm39)	Y65C	probably damaging	Het
Kif15	A	C	9: 122,817,026 (GRCm39)	Q542P	probably damaging	Het
Kit	C	T	5: 75,808,488 (GRCm39)	A744V	probably null	Het
Kit	G	T	5: 75,808,487 (GRCm39)	A744S	probably benign	Het
Lonp1	A	G	17: 56,933,488 (GRCm39)	I129T	possibly damaging	Het
Ltbp4	C	T	7: 27,027,203 (GRCm39)	R389Q	possibly damaging	Het
Map3k21	A	T	8: 126,668,593 (GRCm39)	K726N	probably benign	Het
Npb	G	A	11: 120,499,728 (GRCm39)	V103I	possibly damaging	Het
Or13a22	T	C	7: 140,072,764 (GRCm39)	M71T	probably benign	Het
Or2y3	G	A	17: 38,392,903 (GRCm39)		probably null	Het
Plin2	G	T	4: 86,575,381 (GRCm39)	Y389*	probably null	Het
Pnpla6	G	T	8: 3,584,670 (GRCm39)	G763C	probably null	Het
Pnpla7	A	G	2: 24,932,150 (GRCm39)	D935G	probably damaging	Het
Prr29	A	G	11: 106,265,711 (GRCm39)	S10G	probably benign	Het
Pthlh	A	T	6: 147,164,789 (GRCm39)	V27E	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Serpina12	G	A	12: 104,004,242 (GRCm39)	T130I	probably benign	Het
Slc6a18	A	G	13: 73,825,921 (GRCm39)	F43S	probably damaging	Het
Stx6	C	T	1: 155,034,654 (GRCm39)	P6S	probably damaging	Het
Togaram1	G	T	12: 65,013,118 (GRCm39)	R123L	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim9	C	T	12: 70,295,167 (GRCm39)	G648R	probably damaging	Het
Trpm2	T	A	10: 77,747,208 (GRCm39)	N1430I	probably damaging	Het
Trpm6	C	G	19: 18,831,795 (GRCm39)	H1553Q	probably benign	Het
Vav3	G	A	3: 109,535,484 (GRCm39)		probably null	Het
Zfp574	G	T	7: 24,781,026 (GRCm39)	A683S	possibly damaging	Het

Other mutations in Mcpt8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Mcpt8	APN	14	56,321,402 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAGGGACAGCCAGGATCTGTTG -3'
(R):5'- TTTGTGTGATCTCTCGCAGC -3'

Sequencing Primer
(F):5'- TTGGTTAGTCCCAGGCATCAAAG -3'
(R):5'- TGATCTCTCGCAGCACCCAG -3'

Posted On

2015-02-05