Mutagenetix > Incidental Mutation

Incidental Mutation 'R1144:Pcmtd1'

102225

Institutional Source

Beutler Lab

Gene Symbol

Pcmtd1

Ensembl Gene

ENSMUSG00000051285

Gene Name

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1

Synonyms

A030012M09Rik, 8430411F12Rik

MMRRC Submission

039217-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1144 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7159144-7243852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7190705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 58 (H58R)

Ref Sequence

ENSEMBL: ENSMUSP00000059261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061280] [ENSMUST00000182114]

AlphaFold

P59913

Predicted Effect

probably damaging
Transcript: ENSMUST00000061280
AA Change: H58R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059261
Gene: ENSMUSG00000051285
AA Change: H58R

Domain	Start	End	E-Value	Type
Pfam:PCMT	9	224	2.5e-31	PFAM
low complexity region	269	284	N/A	INTRINSIC
low complexity region	303	328	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182823

Meta Mutation Damage Score

0.5313

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,083 (GRCm39)		probably benign	Het
Abcc5	A	T	16: 20,241,188 (GRCm39)		probably benign	Het
Acsl5	A	C	19: 55,280,275 (GRCm39)	D516A	probably damaging	Het
Adcy1	G	A	11: 7,087,400 (GRCm39)	A425T	probably damaging	Het
Aebp1	A	G	11: 5,818,475 (GRCm39)	T107A	probably benign	Het
Arhgef33	T	C	17: 80,662,473 (GRCm39)	S219P	probably benign	Het
Atm	T	G	9: 53,422,998 (GRCm39)		probably benign	Het
C1ql2	A	C	1: 120,270,266 (GRCm39)	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,527,595 (GRCm39)		probably null	Het
Cmbl	A	G	15: 31,582,020 (GRCm39)	N6D	probably benign	Het
Cntn3	A	G	6: 102,219,087 (GRCm39)	V511A	possibly damaging	Het
Coq9	C	A	8: 95,569,251 (GRCm39)	R28S	probably benign	Het
Creld1	T	C	6: 113,460,922 (GRCm39)	F20S	probably benign	Het
Dcstamp	A	G	15: 39,623,764 (GRCm39)	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,052,131 (GRCm39)	I244K	probably benign	Het
Dnhd1	G	A	7: 105,362,238 (GRCm39)	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 77,887,739 (GRCm39)	C110S	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr1	T	G	8: 26,048,159 (GRCm39)	V172G	probably damaging	Het
Frem3	C	A	8: 81,338,513 (GRCm39)	Q269K	probably benign	Het
Frmd6	C	A	12: 70,923,942 (GRCm39)	H67N	probably damaging	Het
Fry	A	G	5: 150,341,929 (GRCm39)	T1532A	possibly damaging	Het
Git2	G	T	5: 114,891,375 (GRCm39)	S243R	probably benign	Het
Grid1	A	G	14: 35,284,633 (GRCm39)		probably benign	Het
Grp	A	G	18: 66,013,041 (GRCm39)	D69G	probably damaging	Het
Hmbox1	A	T	14: 65,063,132 (GRCm39)	L347Q	probably damaging	Het
Hsh2d	C	T	8: 72,947,436 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,333,897 (GRCm39)	S2018N	probably benign	Het
Kif13b	T	A	14: 64,951,566 (GRCm39)	V69D	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lmcd1	T	A	6: 112,287,712 (GRCm39)		probably benign	Het
Megf9	C	A	4: 70,452,861 (GRCm39)	A67S	probably benign	Het
Myo5b	G	A	18: 74,758,658 (GRCm39)	R213H	probably damaging	Het
Myo5c	T	A	9: 75,193,730 (GRCm39)	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,181,103 (GRCm39)		probably benign	Het
Ntrk1	G	A	3: 87,688,849 (GRCm39)	T568I	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Plxna4	A	T	6: 32,174,091 (GRCm39)	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,777,183 (GRCm39)	D483G	probably benign	Het
Prdm15	G	A	16: 97,609,908 (GRCm39)	R579C	probably damaging	Het
Prickle1	T	A	15: 93,410,342 (GRCm39)	R41W	probably damaging	Het
Rbm19	A	G	5: 120,261,081 (GRCm39)	D235G	possibly damaging	Het
Smco2	A	G	6: 146,772,638 (GRCm39)		probably benign	Het
Sned1	G	C	1: 93,208,298 (GRCm39)	G785R	probably damaging	Het
Stat4	A	G	1: 52,123,288 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,013,298 (GRCm39)	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,963,200 (GRCm39)	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,026 (GRCm39)		probably benign	Het
Tmem63b	T	A	17: 45,977,353 (GRCm39)	K383N	probably benign	Het
Trp53rka	C	A	2: 165,334,961 (GRCm39)		probably benign	Het
Trub1	G	A	19: 57,473,563 (GRCm39)	V207M	probably benign	Het
Ulk2	A	T	11: 61,690,886 (GRCm39)	C551S	possibly damaging	Het
Urb1	A	T	16: 90,573,206 (GRCm39)		probably null	Het
Vmn1r219	C	A	13: 23,347,383 (GRCm39)	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 63,997,541 (GRCm39)	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,312,098 (GRCm39)		probably benign	Het
Wars1	A	T	12: 108,854,291 (GRCm39)	L41*	probably null	Het
Washc2	G	A	6: 116,201,495 (GRCm39)	E64K	probably damaging	Het
Washc4	G	A	10: 83,416,194 (GRCm39)	R828Q	probably damaging	Het
Wdr59	A	T	8: 112,213,576 (GRCm39)	M313K	probably benign	Het
Wscd2	G	A	5: 113,699,151 (GRCm39)		probably null	Het
Zdhhc20	A	C	14: 58,094,135 (GRCm39)	L176V	probably benign	Het

Other mutations in Pcmtd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Pcmtd1	APN	1	7,233,601 (GRCm39)	splice site	probably null
IGL02678:Pcmtd1	APN	1	7,240,045 (GRCm39)	missense	probably damaging	1.00
R0926:Pcmtd1	UTSW	1	7,231,243 (GRCm39)	missense	probably damaging	1.00
R1694:Pcmtd1	UTSW	1	7,217,872 (GRCm39)	missense	probably benign	0.02
R2141:Pcmtd1	UTSW	1	7,239,789 (GRCm39)	missense	probably damaging	1.00
R2206:Pcmtd1	UTSW	1	7,239,807 (GRCm39)	missense	probably benign	0.01
R4573:Pcmtd1	UTSW	1	7,190,591 (GRCm39)	missense	probably damaging	1.00
R4719:Pcmtd1	UTSW	1	7,225,325 (GRCm39)	nonsense	probably null
R4966:Pcmtd1	UTSW	1	7,231,233 (GRCm39)	nonsense	probably null
R5040:Pcmtd1	UTSW	1	7,190,599 (GRCm39)	missense	probably damaging	1.00
R5172:Pcmtd1	UTSW	1	7,233,485 (GRCm39)	missense	probably benign	0.01
R6982:Pcmtd1	UTSW	1	7,217,906 (GRCm39)	missense	probably damaging	1.00
R7445:Pcmtd1	UTSW	1	7,190,644 (GRCm39)	missense	probably damaging	1.00
R7559:Pcmtd1	UTSW	1	7,239,766 (GRCm39)	missense	probably damaging	1.00
RF007:Pcmtd1	UTSW	1	7,225,329 (GRCm39)	intron	probably benign
Z1088:Pcmtd1	UTSW	1	7,233,554 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

Posted On

2014-01-15