Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02678:Pcmtd1'

303227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcmtd1

Ensembl Gene

ENSMUSG00000051285

Gene Name

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

Synonyms

A030012M09Rik, 8430411F12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02678

Quality Score

Status

Chromosome

Chromosomal Location

7159144-7243852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7240045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 338 (I338K)

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: I338K

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

SMART Domains

Protein: ENSMUSP00000059261
Gene: ENSMUSG00000051285
AA Change: I338K

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

probably benign
Transcript: ENSMUST00000182675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183204

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,035,867 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,410,177 (GRCm39)	E272G	probably damaging	Het
Alcam	G	A	16: 52,094,401 (GRCm39)	P416S	probably damaging	Het
B3galt1	A	G	2: 67,949,254 (GRCm39)	H323R	probably benign	Het
Bahcc1	G	A	11: 120,163,697 (GRCm39)	S665N	probably damaging	Het
Birc6	T	C	17: 74,956,898 (GRCm39)	S3631P	probably damaging	Het
Capn3	A	C	2: 120,333,479 (GRCm39)	N621T	probably damaging	Het
Cblif	T	C	19: 11,725,839 (GRCm39)	M43T	probably damaging	Het
Ccdc162	G	A	10: 41,437,151 (GRCm39)	H480Y	probably damaging	Het
Ccr2	T	A	9: 123,906,783 (GRCm39)	D354E	probably benign	Het
Cdc42bpb	T	G	12: 111,292,530 (GRCm39)	D335A	probably damaging	Het
Cdcp3	A	G	7: 130,830,646 (GRCm39)	Y360C	probably damaging	Het
Chrd	G	T	16: 20,552,770 (GRCm39)	R89L	probably damaging	Het
Cops2	T	C	2: 125,686,831 (GRCm39)	R91G	probably benign	Het
Ddi1	T	C	9: 6,266,106 (GRCm39)	T88A	probably benign	Het
Dnai1	A	C	4: 41,602,917 (GRCm39)	E140A	probably benign	Het
Eif1ad17	C	A	12: 87,978,946 (GRCm39)	P110Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,814 (GRCm39)	D2063G	probably damaging	Het
Gdpd4	A	T	7: 97,623,584 (GRCm39)		probably benign	Het
Gng7	C	A	10: 80,787,518 (GRCm39)	L48F	probably damaging	Het
Htt	G	T	5: 35,057,246 (GRCm39)	C2725F	probably damaging	Het
Inpp4b	A	G	8: 82,583,373 (GRCm39)	K159R	probably damaging	Het
Insr	G	T	8: 3,223,570 (GRCm39)	N854K	probably benign	Het
Ktn1	A	T	14: 47,971,610 (GRCm39)		probably null	Het
Lcat	A	G	8: 106,668,572 (GRCm39)		probably null	Het
Mb21d2	T	C	16: 28,646,801 (GRCm39)	E391G	probably benign	Het
Mms19	A	G	19: 41,942,915 (GRCm39)	S354P	possibly damaging	Het
Mx2	G	A	16: 97,357,320 (GRCm39)		probably null	Het
Mycl	G	A	4: 122,893,776 (GRCm39)	R192Q	probably damaging	Het
Mzf1	A	G	7: 12,786,836 (GRCm39)	V78A	probably benign	Het
Nipbl	G	T	15: 8,380,594 (GRCm39)	P733T	possibly damaging	Het
Nploc4	A	G	11: 120,280,198 (GRCm39)	I450T	probably benign	Het
Omd	A	T	13: 49,745,757 (GRCm39)	E389V	probably benign	Het
Or8g30	C	T	9: 39,230,217 (GRCm39)	S231N	probably benign	Het
Oxgr1	A	G	14: 120,259,580 (GRCm39)	L209P	probably damaging	Het
Pak1	A	C	7: 97,543,209 (GRCm39)	T291P	probably damaging	Het
Phrf1	A	G	7: 140,840,195 (GRCm39)	D364G	probably damaging	Het
Pomk	G	A	8: 26,473,135 (GRCm39)	P273S	probably damaging	Het
Psg22	A	T	7: 18,453,418 (GRCm39)	I38F	probably damaging	Het
Rbks	G	T	5: 31,830,757 (GRCm39)	T42N	probably damaging	Het
Rrbp1	A	G	2: 143,832,107 (GRCm39)	V20A	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc11a2	T	A	15: 100,310,081 (GRCm39)	M9L	possibly damaging	Het
Slc16a11	T	C	11: 70,106,242 (GRCm39)	L112S	probably damaging	Het
Slc25a28	A	T	19: 43,655,586 (GRCm39)		probably benign	Het
Slc30a3	G	A	5: 31,245,676 (GRCm39)	R237*	probably null	Het
Slco1a8	A	T	6: 141,954,444 (GRCm39)	Y10N	probably damaging	Het
Smc1b	G	A	15: 84,949,201 (GRCm39)	R1237*	probably null	Het
Smtn	T	C	11: 3,476,353 (GRCm39)	E585G	possibly damaging	Het
Spatc1	A	T	15: 76,176,572 (GRCm39)	D441V	probably damaging	Het
Tenm4	A	G	7: 96,545,426 (GRCm39)	N2481D	probably damaging	Het
Tnks2	A	T	19: 36,823,143 (GRCm39)	I137F	possibly damaging	Het
Trip11	T	C	12: 101,849,649 (GRCm39)	K1472E	probably damaging	Het
Ttn	C	A	2: 76,708,660 (GRCm39)	E1846*	probably null	Het
Vwa8	A	G	14: 79,221,640 (GRCm39)	D532G	probably damaging	Het
Zfp268	A	T	4: 145,349,067 (GRCm39)	H168L	probably damaging	Het
Zfp977	G	A	7: 42,232,419 (GRCm39)	T14I	probably damaging	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
R0926:Pcmtd1	UTSW	1	7,231,243 (GRCm39)	missense	probably damaging	1.00
R1144:Pcmtd1	UTSW	1	7,190,705 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16