Mutagenetix > Incidental Mutation

Incidental Mutation 'R5900:Mcpt8'

456294

Institutional Source

Beutler Lab

Gene Symbol

Mcpt8

Ensembl Gene

ENSMUSG00000022157

Gene Name

mast cell protease 8

Synonyms

MMCP-8

MMRRC Submission

044099-MU

Accession Numbers

Essential gene?

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

Stock #

R5900 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56319623-56322730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56319740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 237 (I237V)

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: I237V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000015594
Gene: ENSMUSG00000022157
AA Change: I237V

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 benign
Transcript: ENSMUST00000225107

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.9%

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
Abca5	T	A	11: 110,169,982 (GRCm39)	T1341S	possibly damaging	Het
Abcc12	T	C	8: 87,293,149 (GRCm39)	D13G	possibly damaging	Het
Adam24	T	C	8: 41,134,071 (GRCm39)	V513A	probably benign	Het
Adgrg6	C	T	10: 14,314,163 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,617,805 (GRCm39)	T1995A	probably benign	Het
Apoh	G	T	11: 108,302,843 (GRCm39)	K269N	probably damaging	Het
Bahcc1	C	T	11: 120,175,319 (GRCm39)	L1798F	probably damaging	Het
Brca2	T	A	5: 150,464,597 (GRCm39)	C1454S	probably benign	Het
Clip2	T	C	5: 134,531,633 (GRCm39)	D689G	possibly damaging	Het
Cpa5	T	C	6: 30,615,115 (GRCm39)	V84A	probably damaging	Het
Ctsh	T	C	9: 89,946,621 (GRCm39)	I116T	probably damaging	Het
Dlg5	T	A	14: 24,199,515 (GRCm39)	E1463V	probably damaging	Het
Dnah11	C	T	12: 118,046,166 (GRCm39)		probably null	Het
Dstyk	G	A	1: 132,384,717 (GRCm39)	R737Q	probably damaging	Het
Galr1	A	G	18: 82,411,982 (GRCm39)	S295P	probably damaging	Het
Gpx2	A	G	12: 76,839,653 (GRCm39)	V115A	probably damaging	Het
Hhipl2	A	G	1: 183,207,597 (GRCm39)	I219V	possibly damaging	Het
Hkdc1	T	C	10: 62,244,445 (GRCm39)	M214V	possibly damaging	Het
Lrfn2	T	C	17: 49,377,291 (GRCm39)	V124A	possibly damaging	Het
Lrrcc1	T	G	3: 14,627,186 (GRCm39)	S704R	possibly damaging	Het
Marveld2	T	C	13: 100,748,176 (GRCm39)	Y301C	probably damaging	Het
Mtus1	A	T	8: 41,536,534 (GRCm39)	V394D	possibly damaging	Het
Ncapd3	T	A	9: 26,978,265 (GRCm39)	D821E	probably benign	Het
Pcdh9	T	C	14: 93,564,156 (GRCm39)	D1058G	probably damaging	Het
Pld2	G	A	11: 70,446,888 (GRCm39)		probably null	Het
Prdm2	A	G	4: 142,861,290 (GRCm39)	S667P	probably damaging	Het
Ptgdr2	A	T	19: 10,918,352 (GRCm39)		probably null	Het
Rfx7	C	T	9: 72,524,538 (GRCm39)	T576I	probably benign	Het
Safb	T	C	17: 56,907,349 (GRCm39)	C426R	unknown	Het
Serpina9	G	A	12: 103,975,130 (GRCm39)	R8*	probably null	Het
Shank3	G	A	15: 89,387,593 (GRCm39)	R254Q	probably damaging	Het
Simc1	T	C	13: 54,694,837 (GRCm39)	V306A	probably damaging	Het
Srfbp1	A	G	18: 52,621,853 (GRCm39)	T305A	probably benign	Het
Tdrd5	A	T	1: 156,105,005 (GRCm39)	C463*	probably null	Het
Tmem132d	A	T	5: 128,346,336 (GRCm39)	L62Q	probably damaging	Het
Trank1	T	A	9: 111,220,784 (GRCm39)	L2507H	probably damaging	Het
Usp45	T	C	4: 21,830,451 (GRCm39)	V702A	probably damaging	Het
Wnk2	A	G	13: 49,256,308 (GRCm39)	I271T	probably damaging	Het
Zfp292	A	T	4: 34,805,125 (GRCm39)	L2640I	probably damaging	Het
Znrf3	G	T	11: 5,232,110 (GRCm39)	H468N	probably 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
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
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'- GTCAGTGCACAGGTATGGTG -3'
(R):5'- GCCGTAGTGGGAACAACAAC -3'

Sequencing Primer
(F):5'- TCAGTGCACAGGTATGGTGTAAAAG -3'
(R):5'- ACAGGGAGAAAGTGGGTCTAG -3'

Posted On

2017-02-15