Mutagenetix > Incidental Mutations

Incidental Mutation 'R1489:Mcpt9'

163623

Institutional Source

Beutler Lab

Gene Symbol

Mcpt9

Ensembl Gene

ENSMUSG00000071361

Gene Name

mast cell protease 9

Synonyms

MMRRC Submission

039541-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56026864-56030495 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56027519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 175 (K175R)

Ref Sequence

ENSEMBL: ENSMUSP00000093476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095798]

AlphaFold

O35164

Predicted Effect

probably benign
Transcript: ENSMUST00000095798
AA Change: K175R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000093476
Gene: ENSMUSG00000071361
AA Change: K175R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	20	239	1.18e-80	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,059,510	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,505,457	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,686,300		probably null	Het
Adam39	A	G	8: 40,824,994	T141A	possibly damaging	Het
Adam6b	T	A	12: 113,491,451	S629R	probably benign	Het
Ap3b2	C	A	7: 81,463,690	E924*	probably null	Het
Armc3	A	T	2: 19,310,047	Y856F	probably benign	Het
Asap1	A	G	15: 64,172,730	L142P	probably damaging	Het
Atg9a	T	A	1: 75,186,090	D427V	probably damaging	Het
Atl2	G	A	17: 79,852,706	A17V	probably benign	Het
Atxn2l	A	T	7: 126,496,467	S379T	probably damaging	Het
C1ql3	G	T	2: 13,010,642	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,609,635	I114F	probably damaging	Het
Cox16	T	C	12: 81,474,615	N135S	probably null	Het
Dnajc13	A	T	9: 104,231,035	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,725,410	Y73*	probably null	Het
Duox2	T	A	2: 122,293,396	M436L	probably benign	Het
Exoc6	T	A	19: 37,597,120	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,812,817		probably benign	Het
Fmn1	T	A	2: 113,365,212	V419E	unknown	Het
Fndc4	T	C	5: 31,293,451	*232W	probably null	Het
Foxc1	C	T	13: 31,808,612	R469*	probably null	Het
Fsip2	A	G	2: 82,979,811	H2158R	probably benign	Het
Ghdc	C	T	11: 100,768,257	G373D	probably benign	Het
Gm10330	A	T	12: 23,780,031	S50T	probably benign	Het
Gm8251	A	G	1: 44,057,790	F1383L	probably benign	Het
Gm8251	T	C	1: 44,061,507	I144V	probably benign	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Lonrf1	A	G	8: 36,222,954	V650A	probably damaging	Het
Map1a	T	C	2: 121,300,437	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,393,906	D190H	probably damaging	Het
Mia3	A	G	1: 183,338,674	S85P	probably benign	Het
Myrip	T	C	9: 120,432,529	F403L	probably damaging	Het
Nox4	A	G	7: 87,304,889	Y134C	probably damaging	Het
Numb	A	G	12: 83,795,443	L642P	probably damaging	Het
Pappa	A	T	4: 65,180,948	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,677,712	L333P	probably benign	Het
Prl	A	T	13: 27,057,636	S3C	probably damaging	Het
Ptprc	T	C	1: 138,120,086	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,637,664		probably benign	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Smpd1	T	C	7: 105,556,554		probably null	Het
Spta1	A	G	1: 174,231,325	E1942G	probably damaging	Het
Tmem38a	A	G	8: 72,579,635	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,507,525	Y232*	probably null	Het
Tpte	T	C	8: 22,349,389		probably null	Het
Virma	T	C	4: 11,521,164	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,754,556	Q216*	probably null	Het
Zswim3	T	C	2: 164,819,981	V127A	probably benign	Het

Other mutations in Mcpt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02947:Mcpt9	APN	14	56026916	nonsense	probably null
IGL03200:Mcpt9	APN	14	56026933	missense	probably benign	0.01
IGL03218:Mcpt9	APN	14	56027451	missense	probably damaging	1.00
IGL03412:Mcpt9	APN	14	56028027	missense	probably damaging	1.00
PIT4434001:Mcpt9	UTSW	14	56029229	missense	probably benign	0.03
R0196:Mcpt9	UTSW	14	56027996	missense	probably benign	0.43
R1218:Mcpt9	UTSW	14	56028668	nonsense	probably null
R1962:Mcpt9	UTSW	14	56027567	missense	probably benign	0.01
R2232:Mcpt9	UTSW	14	56027988	missense	probably benign	0.00
R3911:Mcpt9	UTSW	14	56027679	missense	probably benign	0.29
R4441:Mcpt9	UTSW	14	56027552	missense	probably damaging	1.00
R4600:Mcpt9	UTSW	14	56028592	missense	probably damaging	1.00
R4603:Mcpt9	UTSW	14	56028592	missense	probably damaging	1.00
R4610:Mcpt9	UTSW	14	56028592	missense	probably damaging	1.00
R4611:Mcpt9	UTSW	14	56028592	missense	probably damaging	1.00
R4738:Mcpt9	UTSW	14	56026999	missense	probably damaging	0.98
R7146:Mcpt9	UTSW	14	56026988	missense	probably damaging	1.00
R7475:Mcpt9	UTSW	14	56026943	missense	probably damaging	1.00
R8885:Mcpt9	UTSW	14	56027696	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCACAGAGAGATACTTGGCACAC -3'
(R):5'- TGCTGCCCCAATGGGAAAGAAC -3'

Sequencing Primer
(F):5'- GAGAGATACTTGGCACACTTCCTC -3'
(R):5'- CTTCCTTCATCAGCTTAAAAAGCAAG -3'

Posted On

2014-03-28