Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02934:Pcmt1'

364230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcmt1

Ensembl Gene

ENSMUSG00000019795

Gene Name

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

Synonyms

protein carboxyl methyltransferase, PIMT

Accession Numbers

Essential gene?

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

Stock #

IGL02934

Quality Score

Status

Chromosome

Chromosomal Location

7505137-7556900 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7516491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 187 (M187K)

Ref Sequence

ENSEMBL: ENSMUSP00000123866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159917] [ENSMUST00000161123] [ENSMUST00000162606] [ENSMUST00000162682] [ENSMUST00000163085]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000159917
AA Change: M187K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124932
Gene: ENSMUSG00000019795
AA Change: M187K

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:PCMT	66	279	1.1e-88	PFAM
Pfam:Ubie_methyltran	126	258	3.4e-7	PFAM
Pfam:Methyltransf_31	134	284	1.1e-8	PFAM
Pfam:Methyltransf_18	136	241	3e-9	PFAM
Pfam:Methyltransf_11	141	239	1.5e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160250

Predicted Effect

probably benign
Transcript: ENSMUST00000161123

SMART Domains

Protein: ENSMUSP00000124100
Gene: ENSMUSG00000019795

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:PCMT	53	108	4.2e-14	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000161428
AA Change: M110K

SMART Domains

Protein: ENSMUSP00000123758
Gene: ENSMUSG00000019795
AA Change: M110K

Domain	Start	End	E-Value	Type
Pfam:PCMT	1	160	2.7e-61	PFAM
Pfam:Ubie_methyltran	49	148	8.3e-7	PFAM
Pfam:Methyltransf_31	58	111	3.9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162606
AA Change: M187K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123866
Gene: ENSMUSG00000019795
AA Change: M187K

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:PCMT	66	279	2e-88	PFAM
Pfam:Ubie_methyltran	126	259	1e-6	PFAM
Pfam:Methyltransf_31	134	283	3.5e-8	PFAM

Predicted Effect

probably benign
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: ENSMUST00000163085
AA Change: M173K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125144
Gene: ENSMUSG00000019795
AA Change: M173K

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:PCMT	52	265	9.1e-89	PFAM
Pfam:Ubie_methyltran	112	244	3.1e-7	PFAM
Pfam:Methyltransf_31	120	270	9.8e-9	PFAM
Pfam:Methyltransf_18	122	227	2.7e-9	PFAM
Pfam:Methyltransf_11	127	225	1.4e-6	PFAM

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,956,008 (GRCm39)	R716*	probably null	Het
Abca8a	A	T	11: 109,931,414 (GRCm39)	N1246K	probably damaging	Het
Acadl	A	G	1: 66,876,134 (GRCm39)	Y396H	probably benign	Het
Apol7c	A	T	15: 77,410,318 (GRCm39)	S209R	possibly damaging	Het
Atp1a1	A	T	3: 101,484,308 (GRCm39)	C990*	probably null	Het
Cachd1	C	T	4: 100,825,295 (GRCm39)	S583L	probably damaging	Het
Cbfa2t3	T	C	8: 123,374,497 (GRCm39)	T48A	probably benign	Het
Ccdc138	G	T	10: 58,409,402 (GRCm39)		probably benign	Het
Cenpe	A	G	3: 134,970,112 (GRCm39)	E2231G	probably damaging	Het
Cog3	T	C	14: 75,979,129 (GRCm39)	I206V	probably damaging	Het
Cr2	A	G	1: 194,836,633 (GRCm39)		probably benign	Het
Ctdspl2	T	C	2: 121,809,490 (GRCm39)	V147A	probably damaging	Het
Cyp4f13	A	G	17: 33,148,845 (GRCm39)	V300A	probably damaging	Het
Dkk3	A	T	7: 111,749,954 (GRCm39)	M72K	probably damaging	Het
Dock3	A	T	9: 106,900,944 (GRCm39)	F340L	probably benign	Het
Fut1	A	G	7: 45,268,127 (GRCm39)	H27R	possibly damaging	Het
Igkv4-80	A	G	6: 68,993,840 (GRCm39)	V17A	probably benign	Het
Igkv9-123	G	A	6: 67,931,380 (GRCm39)	P62L	possibly damaging	Het
Kmt2e	T	C	5: 23,702,882 (GRCm39)	S1021P	probably damaging	Het
Krt13	A	C	11: 100,009,910 (GRCm39)	L320R	probably damaging	Het
Ldhal6b	T	C	17: 5,467,819 (GRCm39)	T372A	probably benign	Het
Manba	T	C	3: 135,250,510 (GRCm39)	V379A	probably benign	Het
Map1b	C	T	13: 99,571,639 (GRCm39)	V361I	probably benign	Het
Map4k1	A	G	7: 28,693,531 (GRCm39)	S399G	probably benign	Het
Mff	G	A	1: 82,724,815 (GRCm39)	R229H	probably damaging	Het
Naga	T	C	15: 82,214,401 (GRCm39)	N370S	possibly damaging	Het
Ncor2	A	T	5: 125,102,621 (GRCm39)	M2045K	probably benign	Het
Nipal1	T	C	5: 72,805,250 (GRCm39)	L7P	probably damaging	Het
Or10p22	T	A	10: 128,825,958 (GRCm39)	M59K	probably damaging	Het
Perp	A	T	10: 18,731,520 (GRCm39)	T160S	probably damaging	Het
Rapgef6	G	A	11: 54,516,690 (GRCm39)	D169N	probably damaging	Het
Sel1l	G	A	12: 91,776,710 (GRCm39)	Q711*	probably null	Het
Septin5	T	C	16: 18,448,581 (GRCm39)	Y7C	probably damaging	Het
Spdya	A	T	17: 71,863,395 (GRCm39)	N48I	probably benign	Het
Stard6	T	A	18: 70,629,175 (GRCm39)		probably benign	Het
Sytl2	T	C	7: 90,025,200 (GRCm39)	V396A	probably benign	Het
Tcaf3	T	G	6: 42,570,832 (GRCm39)	M307L	probably benign	Het
Tdrd6	T	C	17: 43,938,778 (GRCm39)	N757D	probably benign	Het
Tgm1	T	A	14: 55,947,446 (GRCm39)	D305V	probably damaging	Het
Themis2	T	A	4: 132,516,862 (GRCm39)	M213L	probably damaging	Het
Tmem184c	A	G	8: 78,324,449 (GRCm39)	V347A	probably damaging	Het
Tmem214	A	G	5: 31,028,888 (GRCm39)	E159G	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,031,215 (GRCm39)	S1064R	probably damaging	Het
Ubr2	C	T	17: 47,268,266 (GRCm39)	E983K	possibly damaging	Het
Vmn1r23	A	T	6: 57,902,914 (GRCm39)	I288N	probably benign	Het
Vmn2r97	T	C	17: 19,149,947 (GRCm39)	V445A	probably benign	Het
Whrn	G	A	4: 63,334,342 (GRCm39)	T813M	probably damaging	Het
Xirp2	C	T	2: 67,346,020 (GRCm39)	H2754Y	probably benign	Het

Other mutations in Pcmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7531:Pcmt1	UTSW	10	7,556,369 (GRCm39)	splice site	probably null
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

Posted On

2015-12-18