Incidental Mutation 'IGL01476:Tiparp'
ID |
278518 |
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 # |
IGL01476
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
Abcc10 |
A |
G |
17: 46,638,863 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
G |
A |
4: 140,728,081 (GRCm39) |
C558Y |
probably damaging |
Het |
Btbd1 |
G |
A |
7: 81,450,797 (GRCm39) |
R328* |
probably null |
Het |
Cdk8 |
A |
G |
5: 146,231,973 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
T |
14: 52,442,947 (GRCm39) |
N534K |
probably benign |
Het |
Cybc1 |
T |
C |
11: 121,116,671 (GRCm39) |
Y86C |
probably damaging |
Het |
Dlgap2 |
C |
T |
8: 14,828,301 (GRCm39) |
R570* |
probably null |
Het |
Eri2 |
A |
C |
7: 119,389,472 (GRCm39) |
F149V |
probably damaging |
Het |
Esyt1 |
A |
G |
10: 128,347,363 (GRCm39) |
M1054T |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,259,217 (GRCm39) |
V84A |
probably damaging |
Het |
Got1 |
A |
C |
19: 43,512,848 (GRCm39) |
V16G |
probably damaging |
Het |
Itga9 |
C |
T |
9: 118,436,179 (GRCm39) |
R62C |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,828,067 (GRCm39) |
R1232G |
possibly damaging |
Het |
Map1a |
A |
G |
2: 121,135,688 (GRCm39) |
Y1930C |
probably damaging |
Het |
Or1e25 |
T |
C |
11: 73,494,056 (GRCm39) |
S217P |
probably damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or2ag2b |
G |
A |
7: 106,417,827 (GRCm39) |
C179Y |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,571,122 (GRCm39) |
K169R |
probably damaging |
Het |
Rnf169 |
A |
C |
7: 99,604,691 (GRCm39) |
Y174D |
probably damaging |
Het |
Sarm1 |
T |
C |
11: 78,381,637 (GRCm39) |
E282G |
probably damaging |
Het |
Sec24a |
A |
G |
11: 51,599,783 (GRCm39) |
S840P |
possibly damaging |
Het |
Skor2 |
A |
T |
18: 76,946,362 (GRCm39) |
Q28L |
unknown |
Het |
Slc35f2 |
T |
C |
9: 53,713,990 (GRCm39) |
V168A |
possibly damaging |
Het |
Slc6a7 |
A |
T |
18: 61,138,845 (GRCm39) |
L221Q |
probably damaging |
Het |
Spata31e5 |
A |
T |
1: 28,816,534 (GRCm39) |
H499Q |
probably benign |
Het |
Syt4 |
A |
T |
18: 31,574,696 (GRCm39) |
V307E |
probably damaging |
Het |
Tasp1 |
A |
G |
2: 139,850,693 (GRCm39) |
L110S |
probably benign |
Het |
Thnsl1 |
T |
A |
2: 21,216,970 (GRCm39) |
D241E |
probably benign |
Het |
Tpbpb |
A |
T |
13: 61,049,948 (GRCm39) |
D60E |
probably benign |
Het |
Trip11 |
T |
C |
12: 101,865,170 (GRCm39) |
I168V |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Wscd2 |
A |
G |
5: 113,710,382 (GRCm39) |
D302G |
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 |
|
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 |