Incidental Mutation 'IGL01467:Tiparp'
ID |
278505 |
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 # |
IGL01467
|
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 |
Adam1a |
A |
G |
5: 121,657,791 (GRCm39) |
C501R |
probably damaging |
Het |
Atxn1 |
C |
T |
13: 45,720,669 (GRCm39) |
V409I |
probably damaging |
Het |
Cdkn2aip |
T |
C |
8: 48,164,247 (GRCm39) |
R489G |
probably damaging |
Het |
Cgn |
A |
G |
3: 94,686,898 (GRCm39) |
S135P |
probably damaging |
Het |
Cpne3 |
C |
A |
4: 19,553,737 (GRCm39) |
C98F |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 44,003,512 (GRCm39) |
N221S |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
Efr3b |
T |
C |
12: 4,019,597 (GRCm39) |
E560G |
probably damaging |
Het |
Eif2b5 |
C |
A |
16: 20,327,714 (GRCm39) |
C154* |
probably null |
Het |
Eps8l2 |
A |
G |
7: 140,941,514 (GRCm39) |
E595G |
probably damaging |
Het |
Gm9839 |
A |
T |
1: 32,559,032 (GRCm39) |
I350N |
probably damaging |
Het |
Hdlbp |
A |
T |
1: 93,345,420 (GRCm39) |
|
probably benign |
Het |
Il18rap |
A |
T |
1: 40,587,799 (GRCm39) |
I466F |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,465,457 (GRCm39) |
I2123N |
probably damaging |
Het |
Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,374,435 (GRCm39) |
S899P |
probably damaging |
Het |
Mmp15 |
T |
A |
8: 96,092,959 (GRCm39) |
F113I |
probably benign |
Het |
Neb |
T |
C |
2: 52,049,499 (GRCm39) |
H6448R |
possibly damaging |
Het |
Or1j12 |
C |
T |
2: 36,342,656 (GRCm39) |
R20* |
probably null |
Het |
Or2m13 |
T |
C |
16: 19,226,539 (GRCm39) |
T77A |
probably benign |
Het |
Pdgfc |
A |
G |
3: 81,116,398 (GRCm39) |
T251A |
probably damaging |
Het |
Pdgfra |
T |
C |
5: 75,346,292 (GRCm39) |
|
probably null |
Het |
Pdpk1 |
A |
G |
17: 24,307,144 (GRCm39) |
S269P |
probably damaging |
Het |
Pip4k2c |
A |
T |
10: 127,035,498 (GRCm39) |
F347L |
probably benign |
Het |
Platr26 |
T |
C |
2: 71,553,656 (GRCm39) |
|
noncoding transcript |
Het |
Pnisr |
C |
T |
4: 21,874,650 (GRCm39) |
|
probably benign |
Het |
Psma5-ps |
A |
G |
10: 85,149,986 (GRCm39) |
|
noncoding transcript |
Het |
Rab3gap1 |
T |
A |
1: 127,858,121 (GRCm39) |
|
probably null |
Het |
Scn10a |
C |
T |
9: 119,487,478 (GRCm39) |
V619I |
probably benign |
Het |
Slc38a11 |
T |
A |
2: 65,147,200 (GRCm39) |
T426S |
probably benign |
Het |
Son |
T |
C |
16: 91,454,165 (GRCm39) |
S971P |
possibly damaging |
Het |
Stk33 |
T |
A |
7: 108,928,796 (GRCm39) |
I239L |
probably damaging |
Het |
Tmem270 |
G |
T |
5: 134,930,815 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Zfp750 |
A |
T |
11: 121,403,767 (GRCm39) |
C369* |
probably null |
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 |
|
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 |
2015-04-16 |