Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4434001:Mcpt9'

555080

Institutional Source

Beutler Lab

Gene Symbol

Mcpt9

Ensembl Gene

ENSMUSG00000071361

Gene Name

mast cell protease 9

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

PIT4434001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56264321-56267952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56266686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 14 (S14P)

Ref Sequence

ENSEMBL: ENSMUSP00000093476 (fasta)

Gene Model

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

AlphaFold

O35164

Predicted Effect

probably benign
Transcript: ENSMUST00000095798
AA Change: S14P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000093476
Gene: ENSMUSG00000071361
AA Change: S14P

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

Coding Region Coverage

1x: 93.3%
3x: 90.6%
10x: 84.3%
20x: 70.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	A	11: 117,696,869 (GRCm39)	D196E	probably benign	Het
Abcb5	G	A	12: 118,854,422 (GRCm39)	S831F	probably damaging	Het
Alg2	C	A	4: 47,474,076 (GRCm39)	A71S	probably benign	Het
Ankrd50	T	C	3: 38,509,412 (GRCm39)	Q62R	possibly damaging	Het
Ano1	A	G	7: 144,164,632 (GRCm39)	V664A	probably benign	Het
Bbox1	A	C	2: 110,105,979 (GRCm39)	D188E	probably benign	Het
Bmi1	C	T	2: 18,689,042 (GRCm39)	T242M	probably benign	Het
C4bp	A	G	1: 130,584,947 (GRCm39)	F30L	probably benign	Het
Carmil3	A	G	14: 55,732,145 (GRCm39)	N214S	probably null	Het
Cep162	C	A	9: 87,075,701 (GRCm39)	K1310N	probably damaging	Het
Cfap74	G	A	4: 155,548,421 (GRCm39)	V21M	unknown	Het
Copa	A	G	1: 171,933,742 (GRCm39)	D401G	probably benign	Het
Cyp4f14	A	G	17: 33,125,104 (GRCm39)	V439A	possibly damaging	Het
Ddhd1	A	C	14: 45,848,062 (GRCm39)	N569K	possibly damaging	Het
Dennd5a	A	G	7: 109,532,831 (GRCm39)	L313P	probably damaging	Het
Eri2	A	G	7: 119,385,524 (GRCm39)	F326L	probably benign	Het
Fam135a	A	T	1: 24,068,276 (GRCm39)	H864Q	probably benign	Het
Fat3	C	T	9: 15,907,612 (GRCm39)	V2797I	probably benign	Het
Fbn2	T	C	18: 58,229,134 (GRCm39)	D692G	probably damaging	Het
Fbxw20	A	G	9: 109,052,500 (GRCm39)	S278P	probably damaging	Het
Gna12	A	T	5: 140,746,773 (GRCm39)	V224E	probably damaging	Het
Grn	C	T	11: 102,326,766 (GRCm39)	H482Y	possibly damaging	Het
Igkv7-33	A	G	6: 70,035,797 (GRCm39)	Y62H	possibly damaging	Het
Kdm4c	A	G	4: 74,189,569 (GRCm39)	T95A	probably benign	Het
Lrp3	T	C	7: 34,903,420 (GRCm39)	T309A	probably damaging	Het
Map3k2	C	A	18: 32,343,088 (GRCm39)	D279E	possibly damaging	Het
Map3k5	T	A	10: 19,902,003 (GRCm39)	V358E	probably damaging	Het
Or10b1	T	C	10: 78,355,549 (GRCm39)	F36L	possibly damaging	Het
Or51a8	T	C	7: 102,549,837 (GRCm39)	F88L	probably benign	Het
Or52a33	A	C	7: 103,289,054 (GRCm39)	C98G	probably damaging	Het
Otud7b	G	A	3: 96,047,776 (GRCm39)	R45H	probably damaging	Het
Pcdhb17	A	G	18: 37,618,704 (GRCm39)	N165D	probably damaging	Het
Pogz	A	G	3: 94,779,681 (GRCm39)	T538A	probably damaging	Het
Prlr	A	G	15: 10,328,458 (GRCm39)	E311G	probably damaging	Het
Ptprs	T	C	17: 56,761,984 (GRCm39)	I43V	probably null	Het
Raet1d	A	T	10: 22,247,433 (GRCm39)	K170*	probably null	Het
Rufy2	A	T	10: 62,826,845 (GRCm39)	Q128L	possibly damaging	Het
Svopl	T	C	6: 37,991,801 (GRCm39)	N360D	possibly damaging	Het
Syt4	A	C	18: 31,573,384 (GRCm39)	L377W	probably damaging	Het
Taar7a	A	G	10: 23,869,319 (GRCm39)	F21L	probably benign	Het
Tax1bp3	T	A	11: 73,071,630 (GRCm39)	M78K	probably damaging	Het
Top2b	T	C	14: 16,423,780 (GRCm38)		probably null	Het
Trim52	A	T	14: 106,344,732 (GRCm39)	D130V	probably benign	Het
Ttc1	T	C	11: 43,635,955 (GRCm39)	Y96C	probably damaging	Het
Vmn2r49	T	C	7: 9,710,762 (GRCm39)	T657A	probably damaging	Het
Vps13d	A	T	4: 144,881,817 (GRCm39)	F1259I		Het
Zbtb18	A	T	1: 177,275,989 (GRCm39)	T441S	possibly damaging	Het

Other mutations in Mcpt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02947:Mcpt9	APN	14	56,264,373 (GRCm39)	nonsense	probably null
IGL03200:Mcpt9	APN	14	56,264,390 (GRCm39)	missense	probably benign	0.01
IGL03218:Mcpt9	APN	14	56,264,908 (GRCm39)	missense	probably damaging	1.00
IGL03412:Mcpt9	APN	14	56,265,484 (GRCm39)	missense	probably damaging	1.00
R0196:Mcpt9	UTSW	14	56,265,453 (GRCm39)	missense	probably benign	0.43
R1218:Mcpt9	UTSW	14	56,266,125 (GRCm39)	nonsense	probably null
R1489:Mcpt9	UTSW	14	56,264,976 (GRCm39)	missense	probably benign	0.00
R1962:Mcpt9	UTSW	14	56,265,024 (GRCm39)	missense	probably benign	0.01
R2232:Mcpt9	UTSW	14	56,265,445 (GRCm39)	missense	probably benign	0.00
R3911:Mcpt9	UTSW	14	56,265,136 (GRCm39)	missense	probably benign	0.29
R4441:Mcpt9	UTSW	14	56,265,009 (GRCm39)	missense	probably damaging	1.00
R4600:Mcpt9	UTSW	14	56,266,049 (GRCm39)	missense	probably damaging	1.00
R4603:Mcpt9	UTSW	14	56,266,049 (GRCm39)	missense	probably damaging	1.00
R4610:Mcpt9	UTSW	14	56,266,049 (GRCm39)	missense	probably damaging	1.00
R4611:Mcpt9	UTSW	14	56,266,049 (GRCm39)	missense	probably damaging	1.00
R4738:Mcpt9	UTSW	14	56,264,456 (GRCm39)	missense	probably damaging	0.98
R7146:Mcpt9	UTSW	14	56,264,445 (GRCm39)	missense	probably damaging	1.00
R7475:Mcpt9	UTSW	14	56,264,400 (GRCm39)	missense	probably damaging	1.00
R8885:Mcpt9	UTSW	14	56,265,153 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTGCCCATCAGAACAGAG -3'
(R):5'- ATGATCAGGCCACAGATTCAAC -3'

Sequencing Primer
(F):5'- TGCCCATCAGAACAGAGAGTAATTTG -3'
(R):5'- CAAAGCAGAGTTGTGAGAATTTTTG -3'

Posted On

2019-06-07