Mutagenetix > Incidental Mutation

Incidental Mutation 'R6982:Pcmtd1'

542708

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

045383-MU

Accession Numbers

Essential gene?

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

Stock #

R6982 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7159144-7243852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 7217906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 118 (V118G)

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: V118G

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

SMART Domains

Protein: ENSMUSP00000059261
Gene: ENSMUSG00000051285
AA Change: V118G

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

unknown
Transcript: ENSMUST00000182675
AA Change: V15G

Meta Mutation Damage Score

0.8609

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	A	13: 70,916,639 (GRCm39)		probably null	Het
Adamtsl3	C	A	7: 82,164,271 (GRCm39)	P362H	probably damaging	Het
Ambra1	G	A	2: 91,747,818 (GRCm39)	V1065I	probably damaging	Het
Ankrd66	T	C	17: 43,849,926 (GRCm39)	T79A	probably damaging	Het
Ano2	G	A	6: 125,969,856 (GRCm39)	R724H	probably benign	Het
Bmp8a	A	G	4: 123,218,934 (GRCm39)	L158P	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cilp	T	C	9: 65,187,087 (GRCm39)	Y1061H	probably damaging	Het
Clybl	G	A	14: 122,639,359 (GRCm39)	G308R	probably damaging	Het
Cntnap5c	C	T	17: 58,399,247 (GRCm39)	P367S	possibly damaging	Het
Col20a1	T	C	2: 180,638,499 (GRCm39)	V371A	probably benign	Het
Col24a1	G	T	3: 145,020,807 (GRCm39)	G393*	probably null	Het
Dnah12	A	G	14: 26,521,033 (GRCm39)		probably null	Het
Dnah8	T	A	17: 30,986,899 (GRCm39)	S3183T	probably benign	Het
Dph2	A	T	4: 117,746,993 (GRCm39)	I435N	probably benign	Het
Fam3c	G	T	6: 22,322,300 (GRCm39)	A107D	probably damaging	Het
Fezf2	G	T	14: 12,343,645 (GRCm38)	Q367K	probably damaging	Het
Gbp2	A	G	3: 142,335,846 (GRCm39)	D182G	probably damaging	Het
Gpr162	T	A	6: 124,837,919 (GRCm39)	I244F	probably damaging	Het
Jakmip1	A	T	5: 37,282,285 (GRCm39)	N159I	probably damaging	Het
Jkampl	A	T	6: 73,446,527 (GRCm39)	Y7*	probably null	Het
Kdm4a	A	T	4: 118,010,636 (GRCm39)		probably null	Het
Klf5	A	G	14: 99,550,671 (GRCm39)	H416R	probably damaging	Het
Lrrc63	A	G	14: 75,322,211 (GRCm39)	V631A	probably benign	Het
Man1a	T	C	10: 53,950,819 (GRCm39)	E101G	possibly damaging	Het
Msantd4	T	A	9: 4,384,061 (GRCm39)	N127K	possibly damaging	Het
Myo3b	A	T	2: 70,256,409 (GRCm39)	E1248D	probably benign	Het
Ncapd2	A	T	6: 125,153,699 (GRCm39)	I672N	probably damaging	Het
Nfic	T	C	10: 81,256,634 (GRCm39)		probably null	Het
Nr1h3	A	G	2: 91,021,104 (GRCm39)	S228P	probably damaging	Het
Or8g32	T	C	9: 39,305,618 (GRCm39)	I174T	probably damaging	Het
Pccb	A	T	9: 100,905,349 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,429,664 (GRCm39)	N3294I	probably damaging	Het
Plscr4	A	G	9: 92,364,796 (GRCm39)	T74A	probably benign	Het
Rasa2	A	T	9: 96,442,803 (GRCm39)	I540N	probably damaging	Het
Serpina3j	C	A	12: 104,283,556 (GRCm39)	T218K	probably benign	Het
Slc16a4	A	G	3: 107,206,589 (GRCm39)	D173G	probably benign	Het
Slc19a2	T	C	1: 164,084,428 (GRCm39)	L106P	possibly damaging	Het
Slc22a19	C	T	19: 7,660,334 (GRCm39)	V359M	probably benign	Het
Slc22a7	T	A	17: 46,745,563 (GRCm39)	M323L	probably benign	Het
Spata21	A	T	4: 140,824,184 (GRCm39)	N149I	possibly damaging	Het
Spink5	G	A	18: 44,110,792 (GRCm39)	G121D	probably damaging	Het
Spink5	T	C	18: 44,143,109 (GRCm39)		probably null	Het
Ssbp4	T	C	8: 71,060,815 (GRCm39)	S6G	possibly damaging	Het
Sytl2	T	C	7: 90,045,772 (GRCm39)	S641P	probably damaging	Het
Tcf3	A	T	10: 80,253,384 (GRCm39)	F215I	probably damaging	Het
Tmem150c	C	A	5: 100,240,680 (GRCm39)	D61Y	probably benign	Het
Ttc7	T	A	17: 87,614,437 (GRCm39)	F201I	probably damaging	Het
Tyw3	T	C	3: 154,285,867 (GRCm39)	I208V	probably benign	Het
Vmn1r202	T	C	13: 22,685,917 (GRCm39)	T167A	probably benign	Het
Vmn1r83	A	T	7: 12,055,763 (GRCm39)	L98Q	probably damaging	Het
Vmn2r95	T	C	17: 18,672,323 (GRCm39)	Y687H	probably damaging	Het
Wdr59	A	T	8: 112,187,445 (GRCm39)	F783L	probably benign	Het
Zfhx4	A	G	3: 5,468,890 (GRCm39)	Y3016C	probably damaging	Het
Zfp518b	T	C	5: 38,830,248 (GRCm39)	T586A	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
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
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'- AAATCCAGGTGGTAGCCGTTTG -3'
(R):5'- ACTGTGAGCACAAACATCTTG -3'

Sequencing Primer
(F):5'- CAGGTGGTAGCCGTTTGCATATTTC -3'
(R):5'- CTGTATAGCAGGGATCGCTAC -3'

Posted On

2018-11-28