Incidental Mutation 'IGL00767:Hpf1'
| ID |
8444 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hpf1
|
| Ensembl Gene |
ENSMUSG00000038005 |
| Gene Name |
histone PARylation factor 1 |
| Synonyms |
2700029M09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00767
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
61342533-61360615 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61349836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 155
(I155V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037190]
[ENSMUST00000136098]
[ENSMUST00000146863]
[ENSMUST00000149267]
|
| AlphaFold |
Q8CFE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037190
AA Change: I155V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047235
Gene: ENSMUSG00000038005
AA Change: I155V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:DUF2228
|
77 |
328 |
7e-117 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136098
|
| SMART Domains |
Protein: ENSMUSP00000119448
Gene: ENSMUSG00000038005
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149267
|
| SMART Domains |
Protein: ENSMUSP00000118277
Gene: ENSMUSG00000038005
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
A |
C |
7: 79,490,638 (GRCm39) |
S293A |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,824,701 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,215,353 (GRCm39) |
T657S |
probably damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,280,546 (GRCm39) |
I554V |
possibly damaging |
Het |
| Mindy2 |
A |
G |
9: 70,541,285 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 69,006,119 (GRCm39) |
T268A |
probably benign |
Het |
| Npy6r |
A |
G |
18: 44,409,385 (GRCm39) |
T269A |
probably benign |
Het |
| Nt5dc3 |
T |
A |
10: 86,656,137 (GRCm39) |
|
probably benign |
Het |
| Osgin2 |
G |
A |
4: 16,006,377 (GRCm39) |
H106Y |
probably damaging |
Het |
| Pdlim3 |
G |
A |
8: 46,349,827 (GRCm39) |
G46R |
probably damaging |
Het |
| Pdpk1 |
T |
G |
17: 24,325,835 (GRCm39) |
K147N |
possibly damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,493,565 (GRCm39) |
D137G |
probably damaging |
Het |
| Polg |
G |
A |
7: 79,101,673 (GRCm39) |
P1048S |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,880,432 (GRCm39) |
I97K |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,236,248 (GRCm39) |
|
probably benign |
Het |
| Serpinb10 |
G |
T |
1: 107,463,807 (GRCm39) |
V30F |
possibly damaging |
Het |
| Stk17b |
A |
G |
1: 53,803,182 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
G |
A |
8: 64,524,355 (GRCm39) |
R444C |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,576,226 (GRCm39) |
V848A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,716,017 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hpf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Hpf1
|
APN |
8 |
61,358,753 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01564:Hpf1
|
APN |
8 |
61,343,513 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01688:Hpf1
|
APN |
8 |
61,349,830 (GRCm39) |
missense |
probably benign |
|
|
IGL02352:Hpf1
|
APN |
8 |
61,349,836 (GRCm39) |
missense |
probably benign |
|
|
IGL02359:Hpf1
|
APN |
8 |
61,349,836 (GRCm39) |
missense |
probably benign |
|
|
R0571:Hpf1
|
UTSW |
8 |
61,353,147 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1016:Hpf1
|
UTSW |
8 |
61,348,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1522:Hpf1
|
UTSW |
8 |
61,349,783 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1806:Hpf1
|
UTSW |
8 |
61,353,154 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Hpf1
|
UTSW |
8 |
61,346,764 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4814:Hpf1
|
UTSW |
8 |
61,346,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Hpf1
|
UTSW |
8 |
61,346,768 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5645:Hpf1
|
UTSW |
8 |
61,349,834 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6221:Hpf1
|
UTSW |
8 |
61,346,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Hpf1
|
UTSW |
8 |
61,358,613 (GRCm39) |
nonsense |
probably null |
|
|
R8742:Hpf1
|
UTSW |
8 |
61,346,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9388:Hpf1
|
UTSW |
8 |
61,353,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9447:Hpf1
|
UTSW |
8 |
61,348,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hpf1
|
UTSW |
8 |
61,348,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation