Mutagenetix > Incidental Mutations

Incidental Mutation 'R2206:Pcmtd1'

239018

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

040208-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7088920-7173628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7169583 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 83 (I83L)

Ref Sequence

ENSEMBL: ENSMUSP00000138680 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000061280
AA Change: I259L

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

SMART Domains

Protein: ENSMUSP00000059261
Gene: ENSMUSG00000051285
AA Change: I259L

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
AA Change: I83L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

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

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,106	V300A	probably benign	Het
2310057M21Rik	A	T	7: 131,362,602	C24S	probably benign	Het
2410137M14Rik	A	G	17: 36,978,073		probably benign	Het
Abhd18	G	A	3: 40,910,573	G83D	probably benign	Het
Adam34	T	C	8: 43,652,237	I124V	probably benign	Het
Adck2	A	G	6: 39,583,839	D123G	probably damaging	Het
Arhgef2	A	G	3: 88,629,914	E37G	probably damaging	Het
Armc4	C	A	18: 7,223,676	G456W	probably benign	Het
Axl	T	C	7: 25,770,636	Y466C	probably damaging	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Bpifb9a	A	T	2: 154,264,241		probably null	Het
Brip1	A	G	11: 86,061,877	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,385,013	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133	Y109C	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cst13	A	T	2: 148,823,282	R66W	probably damaging	Het
Cstf2t	A	G	19: 31,083,775	N237S	probably benign	Het
Dhx8	A	G	11: 101,750,971	T632A	probably benign	Het
Disp2	G	T	2: 118,792,244	Q1152H	probably benign	Het
Dlg1	A	G	16: 31,853,846	H599R	probably benign	Het
Dmxl1	T	C	18: 49,894,094	S2090P	probably benign	Het
Dnajc13	C	G	9: 104,203,518	V821L	probably damaging	Het
Dopey1	T	A	9: 86,521,599	H1617Q	probably benign	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Ephb4	T	C	5: 137,357,719	C197R	probably damaging	Het
Foxn1	C	A	11: 78,358,804	A632S	probably benign	Het
Fpr3	A	C	17: 17,970,646	T60P	probably damaging	Het
Gja4	A	T	4: 127,312,617	S118T	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Itfg1	A	T	8: 85,776,198	S246R	probably benign	Het
Kazn	A	T	4: 142,118,292		probably null	Het
Mdn1	T	C	4: 32,716,271	L2111P	possibly damaging	Het
Myo6	A	G	9: 80,258,455	Y374C	probably benign	Het
Olfr1160	A	G	2: 88,006,235	V181A	probably benign	Het
Olfr1451	A	G	19: 12,999,040	D18G	probably benign	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr403	G	T	11: 74,196,324	V274L	possibly damaging	Het
Pcdhb15	A	T	18: 37,475,022	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,491,289	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,335,580	M518T	probably benign	Het
Pitrm1	T	A	13: 6,569,291	Y721N	probably damaging	Het
Prcp	C	T	7: 92,928,612	T328I	probably damaging	Het
Psg27	C	A	7: 18,567,111	E6*	probably null	Het
Pth1r	T	A	9: 110,723,587	E465V	probably damaging	Het
Pus7l	T	C	15: 94,523,590	Y613C	probably damaging	Het
Rsl1	A	G	13: 67,182,828	T447A	probably benign	Het
Setd3	C	T	12: 108,107,285	V578M	probably benign	Het
Slc10a1	T	C	12: 80,967,628	N106S	probably damaging	Het
Slc29a3	T	C	10: 60,715,907	M453V	possibly damaging	Het
Slc4a8	T	C	15: 100,807,445	V844A	probably damaging	Het
Sorcs1	T	C	19: 50,230,217	H609R	possibly damaging	Het
Tmppe	C	G	9: 114,405,572	P313R	probably benign	Het
Tnxb	A	C	17: 34,709,417	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,873,442	N1643S	probably benign	Het
Trmt1l	T	C	1: 151,435,843		probably null	Het
Vmn1r177	A	T	7: 23,866,131	C107S	probably damaging	Het
Vmn1r225	A	G	17: 20,502,349	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Wdr7	T	A	18: 63,777,607	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,303,402	E36D	possibly damaging	Het
Zbtb40	G	A	4: 137,017,285	Q275*	probably null	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het

Other mutations in Pcmtd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Pcmtd1	APN	1	7163377	splice site	probably null
IGL02678:Pcmtd1	APN	1	7169821	missense	probably damaging	1.00
R0926:Pcmtd1	UTSW	1	7161019	missense	probably damaging	1.00
R1144:Pcmtd1	UTSW	1	7120481	missense	probably damaging	0.99
R1694:Pcmtd1	UTSW	1	7147648	missense	probably benign	0.02
R2141:Pcmtd1	UTSW	1	7169565	missense	probably damaging	1.00
R4573:Pcmtd1	UTSW	1	7120367	missense	probably damaging	1.00
R4719:Pcmtd1	UTSW	1	7155101	nonsense	probably null
R4966:Pcmtd1	UTSW	1	7161009	nonsense	probably null
R5040:Pcmtd1	UTSW	1	7120375	missense	probably damaging	1.00
R5172:Pcmtd1	UTSW	1	7163261	missense	probably benign	0.01
R6982:Pcmtd1	UTSW	1	7147682	missense	probably damaging	1.00
R7445:Pcmtd1	UTSW	1	7120420	missense	probably damaging	1.00
R7559:Pcmtd1	UTSW	1	7169542	missense	probably damaging	1.00
RF007:Pcmtd1	UTSW	1	7155105	intron	probably benign
Z1088:Pcmtd1	UTSW	1	7163330	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- ACTCTGCTCAGTGTGCATTAAG -3'
(R):5'- GCTTCATGGCTTCGATGTGC -3'

Sequencing Primer
(F):5'- GCATTCTCAAAGCAGGTTTT -3'
(R):5'- ATGGCTTCGATGTGCTCTTTC -3'

Posted On

2014-10-02