Mutagenetix > Incidental Mutation

Incidental Mutation 'R0926:Pcmtd1'

83173

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

039073-MU

Accession Numbers

Essential gene?

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

Stock #

R0926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7159144-7243852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7231243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 4 (L4I)

Ref Sequence

ENSEMBL: ENSMUSP00000138680 (fasta)

Gene Model

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

AlphaFold

P59913

Predicted Effect

probably damaging
Transcript: ENSMUST00000061280
AA Change: L180I

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

SMART Domains

Protein: ENSMUSP00000059261
Gene: ENSMUSG00000051285
AA Change: L180I

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 damaging
Transcript: ENSMUST00000182114
AA Change: L4I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182388

Predicted Effect

probably benign
Transcript: ENSMUST00000182675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183204

Meta Mutation Damage Score

0.3724

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.2%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,164,832 (GRCm39)	D514G	probably damaging	Het
Acbd7	A	T	2: 3,341,478 (GRCm39)	I41F	possibly damaging	Het
Actr8	G	T	14: 29,709,181 (GRCm39)	V262L	probably benign	Het
Anp32e	A	G	3: 95,844,454 (GRCm39)	D108G	probably damaging	Het
Banp	G	A	8: 122,747,294 (GRCm39)	G448S	probably benign	Het
Camsap3	G	A	8: 3,637,960 (GRCm39)		probably null	Het
Cd22	C	A	7: 30,568,934 (GRCm39)		probably null	Het
Cfap58	A	T	19: 47,951,001 (GRCm39)	Q454L	probably damaging	Het
Cntn4	C	T	6: 106,632,542 (GRCm39)	T522I	probably benign	Het
Col11a1	G	A	3: 113,883,829 (GRCm39)	D233N	unknown	Het
Csmd1	G	T	8: 16,083,590 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,840,429 (GRCm39)	Y946F	probably damaging	Het
D5Ertd579e	G	T	5: 36,830,210 (GRCm39)	P38Q	probably damaging	Het
Dnal4	T	C	15: 79,646,226 (GRCm39)	T93A	probably benign	Het
Dsp	A	T	13: 38,367,194 (GRCm39)	D614V	probably damaging	Het
Fcgr1	A	T	3: 96,199,682 (GRCm39)	I75N	possibly damaging	Het
Fgd6	T	A	10: 93,970,909 (GRCm39)	Y1229N	probably benign	Het
Fhip2a	G	A	19: 57,369,522 (GRCm39)	A383T	probably damaging	Het
Frmpd1	T	G	4: 45,268,497 (GRCm39)	L214R	probably damaging	Het
Gapvd1	A	T	2: 34,602,337 (GRCm39)	D603E	probably damaging	Het
H2-M9	A	G	17: 36,952,665 (GRCm39)	V127A	probably damaging	Het
Herc2	T	A	7: 55,782,296 (GRCm39)	S1328T	possibly damaging	Het
Ica1l	T	C	1: 60,045,456 (GRCm39)	N269S	probably benign	Het
Il18r1	T	C	1: 40,526,188 (GRCm39)	Y245H	probably damaging	Het
Il6ra	A	T	3: 89,794,376 (GRCm39)	V195E	probably damaging	Het
Inpp5j	A	G	11: 3,451,439 (GRCm39)		probably benign	Het
Isy1	T	C	6: 87,796,125 (GRCm39)	T271A	probably benign	Het
Klra9	T	C	6: 130,155,993 (GRCm39)	Y254C	probably damaging	Het
Ly6e	T	G	15: 74,830,219 (GRCm39)	S73A	probably damaging	Het
Mcmdc2	T	A	1: 9,990,801 (GRCm39)	L326*	probably null	Het
Muc4	G	A	16: 32,576,570 (GRCm39)		probably benign	Het
Myh3	A	G	11: 66,981,340 (GRCm39)		probably null	Het
Ndor1	G	A	2: 25,138,360 (GRCm39)	H409Y	probably benign	Het
Nwd2	A	G	5: 63,965,234 (GRCm39)	D1606G	probably damaging	Het
Or2t44	A	G	11: 58,677,935 (GRCm39)	N292D	probably damaging	Het
Or3a1d	G	A	11: 74,238,132 (GRCm39)	R93C	probably benign	Het
Or4f7	A	G	2: 111,644,892 (GRCm39)	Y60H	probably damaging	Het
Or51f1e	T	C	7: 102,747,092 (GRCm39)	L48P	probably damaging	Het
Or5b99	A	T	19: 12,976,554 (GRCm39)	D68V	probably damaging	Het
Or5h18	A	G	16: 58,848,051 (GRCm39)	I73T	possibly damaging	Het
Or5l13	A	T	2: 87,780,266 (GRCm39)	F104I	probably damaging	Het
Paox	C	A	7: 139,713,951 (GRCm39)	T237K	probably damaging	Het
Pfkl	T	A	10: 77,836,523 (GRCm39)	T165S	probably damaging	Het
Pik3ap1	A	G	19: 41,290,964 (GRCm39)	S523P	probably benign	Het
Pitpnm1	A	G	19: 4,162,338 (GRCm39)	D1056G	probably damaging	Het
Pitpnm2	G	A	5: 124,269,272 (GRCm39)	T450I	probably benign	Het
Pou2f3	T	C	9: 43,058,198 (GRCm39)	D37G	probably damaging	Het
Prdm5	A	G	6: 65,860,531 (GRCm39)	H221R	probably damaging	Het
Pwp1	T	A	10: 85,712,378 (GRCm39)	I72N	probably damaging	Het
Rhou	A	G	8: 124,387,715 (GRCm39)	E149G	probably damaging	Het
She	A	G	3: 89,758,901 (GRCm39)		probably benign	Het
Slc26a9	A	C	1: 131,680,954 (GRCm39)	H121P	probably benign	Het
Spag17	A	G	3: 99,979,432 (GRCm39)	D1431G	probably benign	Het
Trpm3	A	T	19: 22,965,407 (GRCm39)	D1634V	probably benign	Het
Ttn	A	G	2: 76,627,571 (GRCm39)		probably benign	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	possibly damaging	Het
Zcrb1	T	C	15: 93,289,409 (GRCm39)	K51E	probably damaging	Het
Zfp110	C	T	7: 12,583,808 (GRCm39)	Q819*	probably null	Het
Zfp616	A	G	11: 73,976,644 (GRCm39)	N971S	probably benign	Het
Zfp827	A	T	8: 79,844,821 (GRCm39)	T664S	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
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

Predicted Primers

PCR Primer
(F):5'- GGTTGCCTTGCGTTTTCTAAGACAG -3'
(R):5'- TCAAATGAGGAGCTTGGCTGACTG -3'

Sequencing Primer
(F):5'- CTTGCGTTTTCTAAGACAGGATTATG -3'
(R):5'- CGGAGGCTGACTATTCAAGTG -3'

Posted On

2013-11-08