Incidental Mutation 'IGL02684:Pm20d1'
| ID |
303484 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pm20d1
|
| Ensembl Gene |
ENSMUSG00000042251 |
| Gene Name |
peptidase M20 domain containing 1 |
| Synonyms |
4732466D17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL02684
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
131725122-131749210 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131732697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 345
(N345K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048660]
[ENSMUST00000112393]
|
| AlphaFold |
Q8C165 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048660
AA Change: N345K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000046079
Gene: ENSMUSG00000042251
AA Change: N345K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M20
|
121 |
489 |
3.5e-34 |
PFAM |
|
Pfam:M20_dimer
|
240 |
389 |
5.7e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112393
AA Change: N345K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108012
Gene: ENSMUSG00000042251
AA Change: N345K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M20
|
121 |
489 |
7e-33 |
PFAM |
|
Pfam:M20_dimer
|
240 |
389 |
5.7e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
A |
T |
14: 35,532,020 (GRCm39) |
L185* |
probably null |
Het |
| Aadacl4fm5 |
A |
G |
4: 144,504,755 (GRCm39) |
|
probably benign |
Het |
| Actrt3 |
A |
T |
3: 30,653,840 (GRCm39) |
D53E |
probably benign |
Het |
| Ankrd34b |
T |
C |
13: 92,575,016 (GRCm39) |
S83P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 63,966,018 (GRCm39) |
V1029A |
probably benign |
Het |
| Blk |
T |
C |
14: 63,617,143 (GRCm39) |
E288G |
probably benign |
Het |
| Cep192 |
T |
G |
18: 67,967,634 (GRCm39) |
V706G |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,125,097 (GRCm39) |
K908E |
probably damaging |
Het |
| Dnm1l |
A |
T |
16: 16,139,521 (GRCm39) |
I391N |
possibly damaging |
Het |
| Fmn1 |
A |
G |
2: 113,355,622 (GRCm39) |
R688G |
unknown |
Het |
| Gdap2 |
A |
G |
3: 100,078,336 (GRCm39) |
D100G |
probably benign |
Het |
| Gm43638 |
T |
C |
5: 87,610,769 (GRCm39) |
I522V |
possibly damaging |
Het |
| Gsap |
A |
T |
5: 21,447,801 (GRCm39) |
|
probably null |
Het |
| Hoxd12 |
A |
G |
2: 74,505,905 (GRCm39) |
S159G |
probably benign |
Het |
| Ints7 |
A |
G |
1: 191,345,749 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
G |
A |
6: 121,389,900 (GRCm39) |
Q524* |
probably null |
Het |
| Klra10 |
T |
A |
6: 130,258,845 (GRCm39) |
H14L |
possibly damaging |
Het |
| Lratd1 |
T |
C |
12: 14,200,646 (GRCm39) |
D27G |
probably damaging |
Het |
| Mettl15 |
T |
C |
2: 108,961,925 (GRCm39) |
E228G |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,319,591 (GRCm39) |
M216V |
probably benign |
Het |
| Or9s18 |
G |
A |
13: 65,300,210 (GRCm39) |
M57I |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,873,197 (GRCm39) |
N156D |
probably benign |
Het |
| Pkhd1l1 |
G |
T |
15: 44,379,605 (GRCm39) |
|
probably null |
Het |
| Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,643,440 (GRCm39) |
L980S |
probably damaging |
Het |
| Stam2 |
A |
T |
2: 52,609,947 (GRCm39) |
H56Q |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,779,571 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,688,079 (GRCm39) |
D249E |
probably damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,539 (GRCm39) |
T107S |
possibly damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,887 (GRCm39) |
L172P |
probably damaging |
Het |
| Vrtn |
A |
G |
12: 84,696,923 (GRCm39) |
R558G |
probably benign |
Het |
| Zfp977 |
A |
T |
7: 42,232,439 (GRCm39) |
D7E |
probably damaging |
Het |
|
| Other mutations in Pm20d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Pm20d1
|
APN |
1 |
131,741,738 (GRCm39) |
splice site |
probably benign |
|
|
IGL02026:Pm20d1
|
APN |
1 |
131,729,497 (GRCm39) |
nonsense |
probably null |
|
|
R1725:Pm20d1
|
UTSW |
1 |
131,743,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1808:Pm20d1
|
UTSW |
1 |
131,730,165 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2010:Pm20d1
|
UTSW |
1 |
131,739,852 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4663:Pm20d1
|
UTSW |
1 |
131,726,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Pm20d1
|
UTSW |
1 |
131,739,777 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5211:Pm20d1
|
UTSW |
1 |
131,734,647 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5578:Pm20d1
|
UTSW |
1 |
131,743,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6314:Pm20d1
|
UTSW |
1 |
131,743,754 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6410:Pm20d1
|
UTSW |
1 |
131,726,334 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6880:Pm20d1
|
UTSW |
1 |
131,731,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7128:Pm20d1
|
UTSW |
1 |
131,725,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8088:Pm20d1
|
UTSW |
1 |
131,729,501 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8922:Pm20d1
|
UTSW |
1 |
131,728,853 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8942:Pm20d1
|
UTSW |
1 |
131,739,785 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9026:Pm20d1
|
UTSW |
1 |
131,739,822 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9093:Pm20d1
|
UTSW |
1 |
131,743,753 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9094:Pm20d1
|
UTSW |
1 |
131,730,481 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9165:Pm20d1
|
UTSW |
1 |
131,743,825 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9189:Pm20d1
|
UTSW |
1 |
131,730,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Pm20d1
|
UTSW |
1 |
131,730,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Pm20d1
|
UTSW |
1 |
131,725,296 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Pm20d1
|
UTSW |
1 |
131,729,006 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Posted On |
2015-04-16 |
Incidental Mutation