Incidental Mutation 'R8012:Pcmt1'
| ID |
616955 |
| 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 |
046052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R8012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
7505137-7556900 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7516527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 175
(D175G)
|
| 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: D175G
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124932
Gene: ENSMUSG00000019795
AA Change: D175G
| 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 |
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 |
|
| SMART Domains |
Protein: ENSMUSP00000123758
Gene: ENSMUSG00000019795
AA Change: D98G
| 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: D175G
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123866
Gene: ENSMUSG00000019795
AA Change: D175G
| 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: D161G
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125144
Gene: ENSMUSG00000019795
AA Change: D161G
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
T |
A |
4: 144,429,972 (GRCm39) |
D339V |
possibly damaging |
Het |
| Adam19 |
A |
G |
11: 45,955,873 (GRCm39) |
E73G |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,123,962 (GRCm39) |
N65K |
probably benign |
Het |
| Amigo1 |
T |
A |
3: 108,095,958 (GRCm39) |
S486T |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,420,174 (GRCm39) |
L591S |
unknown |
Het |
| Asic1 |
T |
C |
15: 99,594,532 (GRCm39) |
V326A |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,385,202 (GRCm39) |
N282S |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,985,066 (GRCm39) |
D51G |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,695,534 (GRCm39) |
S1320P |
possibly damaging |
Het |
| Cabp5 |
A |
T |
7: 13,141,706 (GRCm39) |
|
probably null |
Het |
| Cdca2 |
A |
G |
14: 67,914,821 (GRCm39) |
C813R |
probably benign |
Het |
| Chpf2 |
A |
T |
5: 24,795,343 (GRCm39) |
R289W |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,250,136 (GRCm39) |
N367I |
possibly damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,172,369 (GRCm39) |
F428S |
probably damaging |
Het |
| Dgkb |
A |
T |
12: 38,189,485 (GRCm39) |
N296I |
probably benign |
Het |
| Dhcr24 |
T |
C |
4: 106,443,853 (GRCm39) |
F481S |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,282,525 (GRCm39) |
Q2886L |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,757,807 (GRCm39) |
V99E |
probably benign |
Het |
| F830045P16Rik |
T |
C |
2: 129,316,352 (GRCm39) |
D119G |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,702,428 (GRCm39) |
L1773Q |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,725,241 (GRCm39) |
V1126E |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,489,535 (GRCm39) |
I359V |
probably benign |
Het |
| Hoxc10 |
T |
C |
15: 102,875,902 (GRCm39) |
S204P |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,097,358 (GRCm39) |
E1562G |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,033,038 (GRCm39) |
N235D |
probably benign |
Het |
| Ly6g6f |
T |
C |
17: 35,300,060 (GRCm39) |
R263G |
possibly damaging |
Het |
| Mcrs1 |
C |
A |
15: 99,147,766 (GRCm39) |
S47I |
probably damaging |
Het |
| Mx1 |
T |
A |
16: 97,258,572 (GRCm39) |
I42F |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,227,277 (GRCm39) |
C1235S |
possibly damaging |
Het |
| Obsl1 |
T |
A |
1: 75,469,317 (GRCm39) |
H1208L |
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,603,457 (GRCm39) |
K459E |
probably benign |
Het |
| Pudp |
T |
G |
18: 50,701,310 (GRCm39) |
H141P |
possibly damaging |
Het |
| Rock2 |
T |
C |
12: 16,992,743 (GRCm39) |
Y171H |
probably damaging |
Het |
| Rwdd1 |
A |
C |
10: 33,885,198 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,522,565 (GRCm39) |
V1085A |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,343,678 (GRCm39) |
L88P |
possibly damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,045 (GRCm39) |
D1351G |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,306,303 (GRCm39) |
D219E |
probably damaging |
Het |
| Wdr86 |
A |
G |
5: 24,935,177 (GRCm39) |
|
probably null |
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 |
|
R7531:Pcmt1
|
UTSW |
10 |
7,556,369 (GRCm39) |
splice site |
probably null |
|
|
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'- CTGAAATGGATGAGGGCTGC -3'
(R):5'- ACATGGACAGTTGTAAACAGTCAG -3'
Sequencing Primer
(F):5'- ATGAGGGCTGCTGTTTCTAC -3'
(R):5'- CAAATTTAGCCCTGTGGACT -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation