Incidental Mutation 'IGL00977:Hpf1'
| ID |
28083 |
| 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 # |
IGL00977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
61342533-61360615 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61358753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 303
(H303R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037190]
[ENSMUST00000056508]
[ENSMUST00000093490]
[ENSMUST00000136098]
[ENSMUST00000146863]
[ENSMUST00000149267]
|
| AlphaFold |
Q8CFE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037190
AA Change: H303R
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000047235
Gene: ENSMUSG00000038005
AA Change: H303R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:DUF2228
|
77 |
328 |
7e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056508
|
| SMART Domains |
Protein: ENSMUSP00000058648
Gene: ENSMUSG00000004319
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
101 |
123 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
193 |
596 |
1.4e-103 |
PFAM |
|
CBS
|
640 |
690 |
2.46e-1 |
SMART |
|
CBS
|
731 |
778 |
6.59e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093490
|
| SMART Domains |
Protein: ENSMUSP00000091202
Gene: ENSMUSG00000004319
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
162 |
565 |
1.2e-103 |
PFAM |
|
CBS
|
609 |
659 |
2.46e-1 |
SMART |
|
CBS
|
700 |
747 |
6.59e-11 |
SMART |
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209553
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211016
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,284 (GRCm39) |
F3619L |
probably damaging |
Het |
| Asic5 |
T |
A |
3: 81,911,953 (GRCm39) |
V183E |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,822,837 (GRCm39) |
V164A |
possibly damaging |
Het |
| Bend3 |
A |
G |
10: 43,386,945 (GRCm39) |
Q446R |
possibly damaging |
Het |
| Ccdc80 |
C |
A |
16: 44,916,627 (GRCm39) |
T461K |
probably benign |
Het |
| Cep350 |
T |
A |
1: 155,808,611 (GRCm39) |
E655V |
probably null |
Het |
| Chi3l1 |
T |
C |
1: 134,115,711 (GRCm39) |
F232L |
possibly damaging |
Het |
| Degs1 |
T |
A |
1: 182,106,774 (GRCm39) |
I162F |
probably benign |
Het |
| Dhdds |
A |
T |
4: 133,727,571 (GRCm39) |
|
probably benign |
Het |
| Herc4 |
A |
T |
10: 63,147,346 (GRCm39) |
Y821F |
probably damaging |
Het |
| Kcnk10 |
A |
T |
12: 98,484,792 (GRCm39) |
C115S |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,740,514 (GRCm39) |
S614P |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,924,248 (GRCm39) |
N321K |
probably benign |
Het |
| Med16 |
A |
T |
10: 79,743,459 (GRCm39) |
M1K |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,410,078 (GRCm39) |
F2651L |
probably damaging |
Het |
| Prrc2b |
C |
T |
2: 32,103,822 (GRCm39) |
T1100I |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,314,645 (GRCm39) |
Q1680L |
probably damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,244,283 (GRCm39) |
T250A |
probably benign |
Het |
| Sting1 |
C |
T |
18: 35,867,620 (GRCm39) |
E359K |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,022,451 (GRCm39) |
F950L |
possibly damaging |
Het |
| Vmn2r129 |
C |
A |
4: 156,686,491 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Hpf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Hpf1
|
APN |
8 |
61,349,836 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation