Incidental Mutation 'IGL00909:Tiparp'
ID |
27078 |
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: 0.778)
|
Stock # |
IGL00909
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
65435868-65462939 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65439530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 100
(V100D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047906]
[ENSMUST00000130705]
|
AlphaFold |
Q8C1B2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047906
AA Change: V282D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048051 Gene: ENSMUSG00000034640 AA Change: V282D
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 damaging
Transcript: ENSMUST00000130705
AA Change: V100D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119951 Gene: ENSMUSG00000034640 AA Change: V100D
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
T |
A |
9: 46,220,250 (GRCm39) |
D94V |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,277,694 (GRCm39) |
Y256C |
probably damaging |
Het |
Ajm1 |
A |
G |
2: 25,469,419 (GRCm39) |
L164P |
probably damaging |
Het |
Ampd1 |
A |
C |
3: 102,995,744 (GRCm39) |
D218A |
probably benign |
Het |
Arcn1 |
T |
C |
9: 44,662,651 (GRCm39) |
N332D |
probably damaging |
Het |
Arpp21 |
T |
A |
9: 112,005,191 (GRCm39) |
I219F |
probably damaging |
Het |
Bicra |
A |
T |
7: 15,730,502 (GRCm39) |
D5E |
possibly damaging |
Het |
Birc2 |
A |
C |
9: 7,833,666 (GRCm39) |
W272G |
probably damaging |
Het |
Cd2ap |
A |
T |
17: 43,141,005 (GRCm39) |
|
probably benign |
Het |
Celsr1 |
G |
A |
15: 85,806,436 (GRCm39) |
R974W |
probably damaging |
Het |
Col4a2 |
A |
C |
8: 11,498,167 (GRCm39) |
T1659P |
possibly damaging |
Het |
Coq9 |
C |
T |
8: 95,578,530 (GRCm39) |
L215F |
possibly damaging |
Het |
Cped1 |
A |
G |
6: 22,122,426 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
A |
T |
5: 9,430,282 (GRCm39) |
D64V |
probably damaging |
Het |
Gga3 |
T |
A |
11: 115,482,567 (GRCm39) |
R105W |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,514,620 (GRCm39) |
R3584Q |
probably benign |
Het |
Hs6st3 |
T |
A |
14: 119,376,446 (GRCm39) |
L207Q |
probably damaging |
Het |
Ift43 |
A |
G |
12: 86,208,807 (GRCm39) |
E141G |
probably damaging |
Het |
Mrps31 |
T |
G |
8: 22,917,841 (GRCm39) |
F287V |
probably damaging |
Het |
Naca |
A |
G |
10: 127,877,551 (GRCm39) |
|
probably benign |
Het |
Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
Or5p81 |
A |
G |
7: 108,266,907 (GRCm39) |
I95V |
possibly damaging |
Het |
Pfas |
A |
T |
11: 68,894,640 (GRCm39) |
Y8* |
probably null |
Het |
Ppip5k1 |
G |
A |
2: 121,177,839 (GRCm39) |
R323W |
probably damaging |
Het |
Rasal1 |
A |
G |
5: 120,802,872 (GRCm39) |
E376G |
probably damaging |
Het |
Rfc1 |
A |
G |
5: 65,437,042 (GRCm39) |
L546P |
probably benign |
Het |
Rheb |
A |
T |
5: 25,012,073 (GRCm39) |
I129N |
probably damaging |
Het |
Scpep1 |
A |
T |
11: 88,843,303 (GRCm39) |
F52I |
probably damaging |
Het |
Six2 |
A |
T |
17: 85,995,319 (GRCm39) |
L21Q |
probably damaging |
Het |
Slit1 |
G |
T |
19: 41,590,694 (GRCm39) |
T1326K |
possibly damaging |
Het |
Spata2l |
T |
C |
8: 123,960,716 (GRCm39) |
D191G |
possibly damaging |
Het |
Susd4 |
C |
A |
1: 182,719,552 (GRCm39) |
A389D |
probably damaging |
Het |
Tcaf2 |
A |
T |
6: 42,601,510 (GRCm39) |
F850I |
probably damaging |
Het |
Teddm1b |
T |
C |
1: 153,750,391 (GRCm39) |
S67P |
probably damaging |
Het |
Zdhhc14 |
A |
G |
17: 5,803,067 (GRCm39) |
H390R |
probably benign |
Het |
|
Other mutations in Tiparp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
IGL01590:Tiparp
|
APN |
3 |
65,439,397 (GRCm39) |
missense |
probably benign |
0.14 |
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 |
2013-04-17 |