Incidental Mutation 'IGL01590:Tiparp'
| ID |
91556 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tiparp
|
| Ensembl Gene |
ENSMUSG00000034640 |
| Gene Name |
TCDD-inducible poly(ADP-ribose) polymerase |
| Synonyms |
PARP7, DDF1, PARP-7 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.829)
|
| Stock # |
IGL01590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
65435868-65462939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65439397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 56
(E56K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047906]
[ENSMUST00000130705]
|
| AlphaFold |
Q8C1B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047906
AA Change: E238K
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: E238K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C3H1
|
238 |
264 |
2e-8 |
BLAST |
|
Pfam:PARP
|
463 |
650 |
2e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000099076
|
| SMART Domains |
Protein: ENSMUSP00000096675
Gene: ENSMUSG00000074580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130705
AA Change: E56K
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119951
Gene: ENSMUSG00000034640
AA Change: E56K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C3H1
|
56 |
82 |
3e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193051
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality, skeletal and craniofacial defects, kidney defects and embryonic hemorrhaging. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,482,590 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
G |
4: 129,907,606 (GRCm39) |
|
probably benign |
Het |
| Apcs |
C |
T |
1: 172,722,034 (GRCm39) |
G104D |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
| Cep250 |
A |
T |
2: 155,834,237 (GRCm39) |
Q2054L |
possibly damaging |
Het |
| Dennd6a |
T |
G |
14: 26,340,507 (GRCm39) |
V207G |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,045,611 (GRCm39) |
D688Y |
possibly damaging |
Het |
| Fam83a |
C |
A |
15: 57,873,173 (GRCm39) |
S334Y |
probably damaging |
Het |
| Fam83e |
T |
A |
7: 45,373,360 (GRCm39) |
F242Y |
probably null |
Het |
| Fnip1 |
A |
T |
11: 54,384,126 (GRCm39) |
D341V |
probably damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,308,028 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
C |
A |
5: 138,272,640 (GRCm39) |
V558F |
probably damaging |
Het |
| H2-M10.6 |
A |
G |
17: 37,123,641 (GRCm39) |
N112D |
probably benign |
Het |
| Hs6st1 |
A |
T |
1: 36,142,785 (GRCm39) |
D240V |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,266,031 (GRCm39) |
|
probably null |
Het |
| Itga8 |
G |
T |
2: 12,165,144 (GRCm39) |
H822N |
probably damaging |
Het |
| Kif20b |
T |
A |
19: 34,932,126 (GRCm39) |
N1263K |
possibly damaging |
Het |
| Krt28 |
A |
G |
11: 99,265,220 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
A |
T |
7: 141,352,630 (GRCm39) |
M706L |
probably benign |
Het |
| Or1j12 |
A |
T |
2: 36,343,004 (GRCm39) |
M136L |
probably benign |
Het |
| Or52h9 |
A |
C |
7: 104,202,782 (GRCm39) |
I219L |
probably benign |
Het |
| Prox2 |
A |
G |
12: 85,134,845 (GRCm39) |
W479R |
probably damaging |
Het |
| Rps19 |
A |
T |
7: 24,587,881 (GRCm39) |
D152V |
probably damaging |
Het |
| Slc20a1 |
G |
A |
2: 129,051,146 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
C |
T |
8: 41,367,137 (GRCm39) |
P564S |
probably damaging |
Het |
| Slco1a5 |
C |
A |
6: 142,196,045 (GRCm39) |
M319I |
probably benign |
Het |
| Spmip2 |
A |
C |
3: 79,356,647 (GRCm39) |
N150T |
probably damaging |
Het |
| Spopfm3 |
G |
A |
3: 94,105,674 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,615,817 (GRCm39) |
T275A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,681,837 (GRCm39) |
S2598P |
probably damaging |
Het |
| Trpm5 |
G |
A |
7: 142,636,471 (GRCm39) |
R489C |
probably damaging |
Het |
| Vmn2r84 |
C |
A |
10: 130,221,964 (GRCm39) |
G752V |
probably damaging |
Het |
| Wnt5b |
T |
A |
6: 119,417,515 (GRCm39) |
T130S |
possibly damaging |
Het |
|
| Other mutations in Tiparp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Tiparp
|
APN |
3 |
65,439,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01448:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01452:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01454:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01456:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01463:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01467:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01468:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01470:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01476:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01481:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01684:Tiparp
|
APN |
3 |
65,460,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02322:Tiparp
|
APN |
3 |
65,439,441 (GRCm39) |
nonsense |
probably null |
|
|
IGL02572:Tiparp
|
APN |
3 |
65,439,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
Albania
|
UTSW |
3 |
65,460,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Moldova
|
UTSW |
3 |
65,460,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB003:Tiparp
|
UTSW |
3 |
65,460,946 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
BB013:Tiparp
|
UTSW |
3 |
65,460,946 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0401:Tiparp
|
UTSW |
3 |
65,438,857 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0674:Tiparp
|
UTSW |
3 |
65,460,586 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1316:Tiparp
|
UTSW |
3 |
65,460,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Tiparp
|
UTSW |
3 |
65,439,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Tiparp
|
UTSW |
3 |
65,436,673 (GRCm39) |
intron |
probably benign |
|
|
R2568:Tiparp
|
UTSW |
3 |
65,460,551 (GRCm39) |
nonsense |
probably null |
|
|
R4533:Tiparp
|
UTSW |
3 |
65,453,768 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4751:Tiparp
|
UTSW |
3 |
65,460,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Tiparp
|
UTSW |
3 |
65,460,190 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5268:Tiparp
|
UTSW |
3 |
65,454,986 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5622:Tiparp
|
UTSW |
3 |
65,454,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5693:Tiparp
|
UTSW |
3 |
65,460,913 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5765:Tiparp
|
UTSW |
3 |
65,438,771 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6061:Tiparp
|
UTSW |
3 |
65,460,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6875:Tiparp
|
UTSW |
3 |
65,439,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7123:Tiparp
|
UTSW |
3 |
65,460,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7926:Tiparp
|
UTSW |
3 |
65,460,946 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8023:Tiparp
|
UTSW |
3 |
65,439,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8234:Tiparp
|
UTSW |
3 |
65,439,002 (GRCm39) |
missense |
probably benign |
|
|
R8416:Tiparp
|
UTSW |
3 |
65,438,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8487:Tiparp
|
UTSW |
3 |
65,453,655 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8547:Tiparp
|
UTSW |
3 |
65,453,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8690:Tiparp
|
UTSW |
3 |
65,460,963 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8750:Tiparp
|
UTSW |
3 |
65,460,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8900:Tiparp
|
UTSW |
3 |
65,460,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Tiparp
|
UTSW |
3 |
65,439,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9323:Tiparp
|
UTSW |
3 |
65,439,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9505:Tiparp
|
UTSW |
3 |
65,439,577 (GRCm39) |
nonsense |
probably null |
|
|
R9558:Tiparp
|
UTSW |
3 |
65,438,852 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9597:Tiparp
|
UTSW |
3 |
65,438,701 (GRCm39) |
missense |
probably benign |
|
|
R9799:Tiparp
|
UTSW |
3 |
65,454,973 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-12-09 |
Incidental Mutation