Incidental Mutation 'IGL01481:Tiparp'
ID |
278526 |
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 # |
IGL01481
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,910,079 (GRCm39) |
S523C |
probably damaging |
Het |
Apaf1 |
A |
T |
10: 90,867,450 (GRCm39) |
D798E |
possibly damaging |
Het |
Arhgef7 |
G |
T |
8: 11,865,256 (GRCm39) |
V410L |
probably benign |
Het |
Capn7 |
T |
C |
14: 31,077,296 (GRCm39) |
L338P |
probably damaging |
Het |
Cldn17 |
A |
G |
16: 88,303,471 (GRCm39) |
V86A |
probably benign |
Het |
Clec4a2 |
A |
G |
6: 123,119,459 (GRCm39) |
N237S |
probably benign |
Het |
Cmtr1 |
T |
G |
17: 29,917,631 (GRCm39) |
I654S |
probably benign |
Het |
Cryzl2 |
G |
A |
1: 157,298,309 (GRCm39) |
|
probably null |
Het |
Ctif |
A |
G |
18: 75,744,855 (GRCm39) |
|
probably benign |
Het |
Dcaf7 |
T |
A |
11: 105,945,572 (GRCm39) |
I307N |
probably damaging |
Het |
Drosha |
A |
T |
15: 12,842,525 (GRCm39) |
T399S |
probably benign |
Het |
Eef2k |
A |
T |
7: 120,494,441 (GRCm39) |
Y35F |
probably benign |
Het |
Emc1 |
T |
C |
4: 139,089,410 (GRCm39) |
S193P |
probably benign |
Het |
Fpr2 |
T |
C |
17: 18,113,025 (GRCm39) |
I7T |
probably benign |
Het |
Fras1 |
C |
A |
5: 96,805,100 (GRCm39) |
N1247K |
probably damaging |
Het |
Gipr |
T |
C |
7: 18,893,431 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
C |
T |
12: 52,002,208 (GRCm39) |
G243S |
probably damaging |
Het |
Hivep2 |
G |
A |
10: 14,024,981 (GRCm39) |
R2265Q |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,882,174 (GRCm39) |
S1073P |
probably benign |
Het |
Inpp4b |
T |
C |
8: 82,724,009 (GRCm39) |
S514P |
probably damaging |
Het |
Inpp5b |
T |
A |
4: 124,694,492 (GRCm39) |
|
probably null |
Het |
Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
Itih5 |
A |
C |
2: 10,195,100 (GRCm39) |
Q164P |
probably damaging |
Het |
Map3k19 |
T |
A |
1: 127,750,215 (GRCm39) |
E1045D |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,168,951 (GRCm39) |
V1374A |
possibly damaging |
Het |
Mrps34 |
T |
C |
17: 25,116,310 (GRCm39) |
|
probably benign |
Het |
Nadsyn1 |
T |
C |
7: 143,366,321 (GRCm39) |
D191G |
probably damaging |
Het |
Nlrc3 |
T |
G |
16: 3,781,769 (GRCm39) |
N563H |
probably damaging |
Het |
Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
Or10g6 |
T |
C |
9: 39,934,574 (GRCm39) |
M295T |
possibly damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or4a79 |
A |
G |
2: 89,551,870 (GRCm39) |
L195P |
probably damaging |
Het |
Or52u1 |
C |
A |
7: 104,237,067 (GRCm39) |
P36T |
probably damaging |
Het |
Pdgfd |
C |
A |
9: 6,337,271 (GRCm39) |
T195K |
probably null |
Het |
Ptprz1 |
C |
A |
6: 22,999,979 (GRCm39) |
Q690K |
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,430,903 (GRCm39) |
M23K |
probably damaging |
Het |
Scn10a |
G |
A |
9: 119,438,260 (GRCm39) |
R1869C |
probably damaging |
Het |
Scp2 |
T |
C |
4: 107,931,639 (GRCm39) |
|
probably null |
Het |
Sec61a1 |
A |
G |
6: 88,483,829 (GRCm39) |
V354A |
probably benign |
Het |
Sgpp1 |
T |
C |
12: 75,769,431 (GRCm39) |
I246V |
probably benign |
Het |
Slco2a1 |
G |
T |
9: 102,947,450 (GRCm39) |
D250Y |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,460,273 (GRCm39) |
N1435D |
probably benign |
Het |
Sspo |
A |
G |
6: 48,425,449 (GRCm39) |
I23M |
probably benign |
Het |
Steap4 |
A |
T |
5: 8,026,858 (GRCm39) |
T274S |
probably damaging |
Het |
Tbc1d22b |
T |
C |
17: 29,787,572 (GRCm39) |
L107P |
possibly damaging |
Het |
Tmem45a2 |
T |
A |
16: 56,867,375 (GRCm39) |
I109F |
probably benign |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Tox |
T |
A |
4: 6,842,396 (GRCm39) |
T45S |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Wdr7 |
G |
A |
18: 63,872,250 (GRCm39) |
D395N |
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 |
|
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 |
|
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 |