Incidental Mutation 'R1016:Hpf1'
| ID |
96324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hpf1
|
| Ensembl Gene |
ENSMUSG00000038005 |
| Gene Name |
histone PARylation factor 1 |
| Synonyms |
2700029M09Rik |
| MMRRC Submission |
039120-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
61342533-61360615 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61348678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 131
(Y131C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037190]
[ENSMUST00000136098]
[ENSMUST00000146863]
[ENSMUST00000149267]
|
| AlphaFold |
Q8CFE2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037190
AA Change: Y131C
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047235
Gene: ENSMUSG00000038005
AA Change: Y131C
| 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 |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam20 |
T |
A |
7: 19,710,227 (GRCm39) |
H6Q |
probably null |
Het |
| Clstn1 |
T |
C |
4: 149,731,286 (GRCm39) |
I866T |
probably benign |
Het |
| Cntnap1 |
T |
C |
11: 101,068,333 (GRCm39) |
V86A |
probably damaging |
Het |
| Crtc1 |
A |
T |
8: 70,844,769 (GRCm39) |
Y351* |
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cyp2j12 |
C |
T |
4: 96,001,102 (GRCm39) |
|
probably null |
Het |
| Dmrt2 |
A |
T |
19: 25,652,938 (GRCm39) |
K183N |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,337,195 (GRCm39) |
|
probably benign |
Het |
| Fbxo40 |
G |
A |
16: 36,789,539 (GRCm39) |
Q524* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,686,691 (GRCm39) |
|
probably null |
Het |
| Gm19965 |
T |
A |
1: 116,749,031 (GRCm39) |
C237* |
probably null |
Het |
| Mdh1 |
A |
G |
11: 21,509,769 (GRCm39) |
L202P |
probably benign |
Het |
| Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,503,063 (GRCm39) |
V784A |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,242,786 (GRCm39) |
I159T |
possibly damaging |
Het |
| Nans |
T |
C |
4: 46,500,716 (GRCm39) |
Y203H |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,402,295 (GRCm39) |
C709Y |
probably damaging |
Het |
| Or8b36 |
T |
C |
9: 37,937,987 (GRCm39) |
V295A |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,660 (GRCm39) |
Y192C |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,832 (GRCm39) |
N118D |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,442 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,135 (GRCm39) |
T454A |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,000,973 (GRCm39) |
L1021P |
probably damaging |
Het |
| Pvr |
T |
C |
7: 19,643,142 (GRCm39) |
I364V |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,071,582 (GRCm39) |
I396M |
probably damaging |
Het |
| Sgcb |
A |
C |
5: 73,797,183 (GRCm39) |
H192Q |
probably benign |
Het |
| Slc4a9 |
C |
A |
18: 36,664,478 (GRCm39) |
H379N |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,715,729 (GRCm39) |
D22G |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,897,167 (GRCm39) |
V77A |
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,369,617 (GRCm39) |
E384G |
probably null |
Het |
| Vmn2r16 |
G |
A |
5: 109,487,754 (GRCm39) |
G209D |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGATGCGCTTGCCACAAGCCTG -3'
(R):5'- TTGGCTGCAAAGTTCTTCTGAACCC -3'
Sequencing Primer
(F):5'- CCTGGGTCTTCGGTTAGTG -3'
(R):5'- ACCcaaaacaaaacaaaacaaaaac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation