Incidental Mutation 'IGL01468:Tiparp'
ID |
278507 |
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 # |
IGL01468
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
65435868-65462939 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 65460030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 442
(G442*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047906]
|
AlphaFold |
Q8C1B2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047906
AA Change: G442*
|
SMART Domains |
Protein: ENSMUSP00000048051 Gene: ENSMUSG00000034640 AA Change: G442*
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: ENSMUST00000154094
|
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 |
Abca7 |
G |
A |
10: 79,839,711 (GRCm39) |
V781I |
probably benign |
Het |
Aldh5a1 |
G |
T |
13: 25,095,536 (GRCm39) |
|
probably benign |
Het |
Arhgap12 |
T |
C |
18: 6,057,576 (GRCm39) |
T435A |
probably benign |
Het |
Atrnl1 |
G |
A |
19: 57,688,144 (GRCm39) |
V870I |
probably benign |
Het |
Cerkl |
A |
T |
2: 79,173,559 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
T |
A |
6: 47,248,305 (GRCm39) |
L13* |
probably null |
Het |
Cr2 |
G |
A |
1: 194,850,843 (GRCm39) |
P208S |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,908,612 (GRCm39) |
D1075G |
probably benign |
Het |
Dhx57 |
T |
A |
17: 80,563,039 (GRCm39) |
K863* |
probably null |
Het |
Dnaaf5 |
C |
A |
5: 139,137,235 (GRCm39) |
|
probably null |
Het |
Fbxw7 |
T |
A |
3: 84,879,806 (GRCm39) |
I336K |
probably benign |
Het |
Ftcd |
A |
G |
10: 76,420,421 (GRCm39) |
D385G |
probably benign |
Het |
Gm10153 |
T |
C |
7: 141,743,778 (GRCm39) |
S117G |
unknown |
Het |
Gzmb |
T |
C |
14: 56,497,772 (GRCm39) |
Y156C |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,831,880 (GRCm39) |
D83E |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,467,191 (GRCm39) |
V364A |
probably damaging |
Het |
Mknk2 |
A |
G |
10: 80,503,498 (GRCm39) |
|
probably benign |
Het |
Or7a36 |
A |
T |
10: 78,819,696 (GRCm39) |
Q24L |
probably damaging |
Het |
Pgm1 |
A |
T |
4: 99,819,367 (GRCm39) |
N197I |
possibly damaging |
Het |
Prss39 |
C |
T |
1: 34,538,481 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,088,201 (GRCm39) |
V236A |
probably damaging |
Het |
Slc17a8 |
C |
T |
10: 89,427,883 (GRCm39) |
|
probably null |
Het |
Slc24a3 |
A |
G |
2: 145,455,500 (GRCm39) |
Y463C |
probably benign |
Het |
Slc4a7 |
A |
G |
14: 14,737,480 (GRCm38) |
E149G |
probably damaging |
Het |
Synj1 |
G |
A |
16: 90,807,060 (GRCm39) |
|
probably benign |
Het |
Tas2r138 |
T |
A |
6: 40,589,410 (GRCm39) |
M279L |
probably benign |
Het |
Terb1 |
A |
G |
8: 105,208,799 (GRCm39) |
|
probably benign |
Het |
Trmt5 |
C |
T |
12: 73,327,878 (GRCm39) |
V442I |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,840,071 (GRCm39) |
I383V |
possibly damaging |
Het |
Uchl4 |
A |
G |
9: 64,142,998 (GRCm39) |
T160A |
possibly damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,182,382 (GRCm39) |
M439K |
possibly damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,892,868 (GRCm39) |
L757Q |
probably damaging |
Het |
Zfp518a |
T |
C |
19: 40,904,475 (GRCm39) |
V1468A |
probably benign |
Het |
Zxdc |
A |
T |
6: 90,350,761 (GRCm39) |
E404V |
probably 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 |
|
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 |
2015-04-16 |