Mutagenetix > Incidental Mutation

Incidental Mutation 'R7531:Pcmt1'

628171

Institutional Source

Beutler Lab

Gene Symbol

Pcmt1

Ensembl Gene

ENSMUSG00000019795

Gene Name

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

Synonyms

protein carboxyl methyltransferase, PIMT

MMRRC Submission

045603-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R7531 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7505137-7556900 bp(-) (GRCm39)

Type of Mutation

splice site (302 bp from exon)

DNA Base Change (assembly)

A to G at 7556369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040135] [ENSMUST00000159977] [ENSMUST00000162682] [ENSMUST00000165952]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040135

SMART Domains

Protein: ENSMUSP00000046732
Gene: ENSMUSG00000040034

Domain	Start	End	E-Value	Type
Blast:WD40	1	48	1e-15	BLAST
WD40	64	101	3.57e0	SMART
WD40	124	157	2.45e2	SMART
WD40	160	199	9.55e0	SMART
WD40	206	246	2.15e-4	SMART
WD40	250	290	2.19e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159977

Predicted Effect

probably null
Transcript: ENSMUST00000162682

SMART Domains

Protein: ENSMUSP00000124246
Gene: ENSMUSG00000019795

Domain	Start	End	E-Value	Type
Pfam:PCMT	1	66	7.5e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165952

SMART Domains

Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021

Domain	Start	End	E-Value	Type
Pfam:UBA	101	138	7.4e-11	PFAM
low complexity region	228	267	N/A	INTRINSIC
low complexity region	301	314	N/A	INTRINSIC
low complexity region	371	379	N/A	INTRINSIC
low complexity region	433	445	N/A	INTRINSIC
low complexity region	482	493	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
low complexity region	554	559	N/A	INTRINSIC
S_TKc	704	1009	7.3e-99	SMART
S_TK_X	1010	1081	1.2e-2	SMART
low complexity region	1102	1120	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (54/54)

MGI Phenotype

PHENOTYPE: Homozygous disruption of this gene causes accumulation of modified proteins, growth retardation and fatal epileptic seizures. Homozygotes for one null allele also show a small spleen, altered lipid, hormone, mineral and enzyme profiles, kyphosis, enlarged brain and abnormal dendritic arborizations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,286,332 (GRCm39)	T2501S	probably damaging	Het
Abcg3	A	G	5: 105,125,507 (GRCm39)	Y59H	probably benign	Het
Acsf2	G	T	11: 94,464,057 (GRCm39)		probably null	Het
Adam25	T	A	8: 41,206,914 (GRCm39)	I60K	probably damaging	Het
Agrn	A	T	4: 156,254,261 (GRCm39)	V1729E	probably damaging	Het
Aldh9a1	G	A	1: 167,177,895 (GRCm39)	V31I	probably benign	Het
Aqp5	T	C	15: 99,489,180 (GRCm39)	F10L	possibly damaging	Het
Arfgap2	T	A	2: 91,104,089 (GRCm39)		probably null	Het
Asb7	T	C	7: 66,328,884 (GRCm39)	H52R	probably damaging	Het
Aspa	G	A	11: 73,204,351 (GRCm39)	Q206*	probably null	Het
Bpgm	A	G	6: 34,481,223 (GRCm39)	I207V	possibly damaging	Het
Brinp2	A	G	1: 158,094,142 (GRCm39)	S187P	possibly damaging	Het
Clec4e	A	G	6: 123,262,533 (GRCm39)	F128S	probably benign	Het
Crisp3	A	G	17: 40,545,629 (GRCm39)	F82L	probably benign	Het
Cry2	A	G	2: 92,243,350 (GRCm39)	L497P	probably damaging	Het
Dcxr	A	G	11: 120,617,832 (GRCm39)	V48A	probably benign	Het
Ddx11	A	T	17: 66,445,214 (GRCm39)	T379S	probably benign	Het
Depdc1a	A	C	3: 159,228,276 (GRCm39)	T343P	probably damaging	Het
Dhx36	T	C	3: 62,392,389 (GRCm39)	I546V	probably damaging	Het
Fam114a2	A	G	11: 57,404,542 (GRCm39)	V74A	probably benign	Het
Fcgbpl1	T	C	7: 27,839,656 (GRCm39)	F490L	probably benign	Het
Flg2	A	T	3: 93,108,177 (GRCm39)	R68S	probably damaging	Het
Glb1l3	T	C	9: 26,764,950 (GRCm39)	I154V	possibly damaging	Het
Gm45844	T	C	7: 7,243,185 (GRCm39)	T22A	probably benign	Het
Gramd2a	A	T	9: 59,617,193 (GRCm39)	I83F	probably damaging	Het
Hcn4	A	G	9: 58,767,420 (GRCm39)	T994A	unknown	Het
Hectd1	C	T	12: 51,853,150 (GRCm39)	V124I	probably benign	Het
Hmcn1	A	T	1: 150,562,531 (GRCm39)	D2342E	probably benign	Het
Hyal6	A	T	6: 24,740,786 (GRCm39)	H313L	possibly damaging	Het
Ifnab	T	A	4: 88,609,523 (GRCm39)		probably benign	Het
Keap1	A	G	9: 21,148,623 (GRCm39)	I128T	probably benign	Het
Kit	T	C	5: 75,767,700 (GRCm39)	S28P	probably damaging	Het
Krtap5-3	T	A	7: 141,755,942 (GRCm39)	C260S	unknown	Het
Lepr	T	A	4: 101,609,372 (GRCm39)	W320R	probably damaging	Het
Lmod3	A	T	6: 97,225,403 (GRCm39)	N139K	probably benign	Het
Marchf1	C	G	8: 66,838,989 (GRCm39)	S10R	probably benign	Het
Naa35	A	T	13: 59,765,755 (GRCm39)	K380*	probably null	Het
Npy1r	C	A	8: 67,157,546 (GRCm39)	F285L	probably damaging	Het
Nr1h3	C	T	2: 91,014,739 (GRCm39)	R427H	probably damaging	Het
Or5p79	T	A	7: 108,221,269 (GRCm39)	N83K	probably benign	Het
Pate2	A	G	9: 35,582,008 (GRCm39)		probably null	Het
Prg4	T	G	1: 150,330,786 (GRCm39)	E629A	unknown	Het
Rin2	T	G	2: 145,700,419 (GRCm39)	S199A	probably benign	Het
Ror1	T	A	4: 100,298,388 (GRCm39)	L587Q	probably damaging	Het
Rsl1	T	A	13: 67,324,566 (GRCm39)	C31S	possibly damaging	Het
Scn4a	A	G	11: 106,239,523 (GRCm39)		probably null	Het
Sema3a	T	C	5: 13,615,805 (GRCm39)	Y410H	probably damaging	Het
Smpd5	T	C	15: 76,180,539 (GRCm39)	V447A	probably benign	Het
Tax1bp1	A	T	6: 52,723,682 (GRCm39)	D524V	probably benign	Het
Tesc	A	T	5: 118,197,523 (GRCm39)	Y179F	probably damaging	Het
Tm9sf2	T	C	14: 122,379,824 (GRCm39)	S292P	possibly damaging	Het
Unc45b	A	G	11: 82,819,838 (GRCm39)	D543G	probably damaging	Het
Usp4	T	A	9: 108,249,879 (GRCm39)	V469E	probably damaging	Het
Vmn1r10	T	A	6: 57,090,924 (GRCm39)	I172N	possibly damaging	Het
Zfyve16	A	G	13: 92,659,473 (GRCm39)	L146S	probably damaging	Het

Other mutations in Pcmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02934:Pcmt1	APN	10	7,516,491 (GRCm39)	missense	probably benign	0.00
R1968:Pcmt1	UTSW	10	7,516,474 (GRCm39)	nonsense	probably null
R3889:Pcmt1	UTSW	10	7,524,814 (GRCm39)	critical splice donor site	probably null
R5454:Pcmt1	UTSW	10	7,516,509 (GRCm39)	missense	probably damaging	1.00
R5630:Pcmt1	UTSW	10	7,524,857 (GRCm39)	missense	probably damaging	1.00
R5705:Pcmt1	UTSW	10	7,513,954 (GRCm39)	missense	possibly damaging	0.86
R6667:Pcmt1	UTSW	10	7,538,913 (GRCm39)	missense	probably damaging	1.00
R7163:Pcmt1	UTSW	10	7,513,922 (GRCm39)	missense	probably benign	0.01
R7168:Pcmt1	UTSW	10	7,513,946 (GRCm39)	missense	probably damaging	1.00
R8012:Pcmt1	UTSW	10	7,516,527 (GRCm39)	missense	probably benign	0.26
R8435:Pcmt1	UTSW	10	7,515,825 (GRCm39)	missense	possibly damaging	0.94
R9134:Pcmt1	UTSW	10	7,520,207 (GRCm39)	splice site	probably benign
R9140:Pcmt1	UTSW	10	7,514,678 (GRCm39)	makesense	probably null
R9595:Pcmt1	UTSW	10	7,524,817 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- TGACCATCTGAGGTTTTCATAGTTG -3'
(R):5'- TTTGCAGAGTTCGGTCCAGC -3'

Sequencing Primer
(F):5'- CAGCTACCTTTAAGACTGAGGCTG -3'
(R):5'- AGAGTTCGGTCCAGCGGATC -3'

Posted On

2020-01-29