Mutagenetix > Incidental Mutation

Incidental Mutation 'R3123:Mcpt8'

264171

Institutional Source

Beutler Lab

Gene Symbol

Mcpt8

Ensembl Gene

ENSMUSG00000022157

Gene Name

mast cell protease 8

Synonyms

MMCP-8

MMRRC Submission

040596-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R3123 (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: 97.5%
20x: 95.6%

Validation Efficiency

100% (46/46)

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
Ak9	A	G	10: 41,234,576 (GRCm39)	I646V	possibly damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Caskin2	T	C	11: 115,695,623 (GRCm39)	D246G	probably damaging	Het
Csn1s2b	T	C	5: 87,966,917 (GRCm39)		probably benign	Het
Ctsa	T	A	2: 164,677,152 (GRCm39)		probably null	Het
Cyp2j8	G	A	4: 96,389,450 (GRCm39)		probably benign	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
Dhx9	T	C	1: 153,341,452 (GRCm39)	K599E	possibly damaging	Het
Duox2	A	G	2: 122,111,554 (GRCm39)		probably benign	Het
F2rl3	T	C	8: 73,489,840 (GRCm39)	S356P	probably damaging	Het
Fem1b	T	C	9: 62,703,836 (GRCm39)	I475V	probably benign	Het
Glra3	A	G	8: 56,578,244 (GRCm39)	R434G	possibly damaging	Het
Gpr75	T	A	11: 30,841,709 (GRCm39)	S205T	possibly damaging	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
Ifi27l2b	T	C	12: 103,417,594 (GRCm39)	T198A	unknown	Het
Kdm5d	T	C	Y: 900,558 (GRCm39)	V201A	possibly damaging	Het
Khdrbs2	C	A	1: 32,558,858 (GRCm39)	R408L	probably damaging	Het
Lonp1	A	G	17: 56,933,488 (GRCm39)	I129T	possibly damaging	Het
Macc1	T	C	12: 119,411,368 (GRCm39)	F712S	probably damaging	Het
Nop2	G	A	6: 125,109,164 (GRCm39)		probably benign	Het
Or10ag53	A	T	2: 87,083,135 (GRCm39)	T285S	possibly damaging	Het
Or2l13	A	G	16: 19,305,765 (GRCm39)	Y59C	probably damaging	Het
Or2y3	G	A	17: 38,392,903 (GRCm39)		probably null	Het
Pkd1l1	T	A	11: 8,923,021 (GRCm39)	D82V	unknown	Het
Polr2a	A	T	11: 69,626,536 (GRCm39)	S1566T	possibly damaging	Het
Ppwd1	C	T	13: 104,350,198 (GRCm39)	E396K	possibly damaging	Het
Prr30	A	G	14: 101,436,425 (GRCm39)	S46P	probably benign	Het
Pthlh	A	T	6: 147,164,789 (GRCm39)	V27E	probably damaging	Het
Ptpn4	A	G	1: 119,693,153 (GRCm39)		probably null	Het
Rad18	A	T	6: 112,658,307 (GRCm39)	D199E	probably benign	Het
Ralgps1	T	C	2: 33,048,968 (GRCm39)	T314A	possibly damaging	Het
Rbm27	A	G	18: 42,460,230 (GRCm39)	E764G	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Taf15	G	A	11: 83,395,154 (GRCm39)		probably null	Het
Tas2r140	T	A	6: 133,032,204 (GRCm39)	I185L	probably benign	Het
Tgfbr2	G	A	9: 115,939,137 (GRCm39)	T230M	possibly damaging	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	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
Upf1	A	G	8: 70,790,133 (GRCm39)		probably benign	Het
Vmn2r109	C	T	17: 20,761,248 (GRCm39)	C703Y	probably damaging	Het
Zfp574	G	T	7: 24,781,026 (GRCm39)	A683S	possibly damaging	Het
Zfp777	A	G	6: 48,006,050 (GRCm39)		probably benign	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
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

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