Incidental Mutation 'IGL01470:Tiparp'
| ID |
278512 |
| 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 # |
IGL01470
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,414 (GRCm39) |
T1184A |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,557,375 (GRCm39) |
I106T |
probably damaging |
Het |
| Asic4 |
C |
T |
1: 75,427,510 (GRCm39) |
A12V |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,821,099 (GRCm39) |
V1139D |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,616,613 (GRCm39) |
|
probably benign |
Het |
| Eif4h |
A |
T |
5: 134,654,393 (GRCm39) |
|
probably null |
Het |
| Exog |
C |
A |
9: 119,291,592 (GRCm39) |
Q290K |
probably damaging |
Het |
| Fam83c |
A |
T |
2: 155,676,728 (GRCm39) |
I14K |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,033,021 (GRCm39) |
Y268N |
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,056,281 (GRCm39) |
L1144P |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,340,944 (GRCm39) |
T1079I |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,368,980 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,404,918 (GRCm39) |
V4496A |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,350,261 (GRCm39) |
R729G |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,205,147 (GRCm39) |
C461* |
probably null |
Het |
| Lypd6 |
T |
C |
2: 50,078,795 (GRCm39) |
V97A |
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,993,933 (GRCm39) |
E973G |
possibly damaging |
Het |
| Mep1b |
A |
T |
18: 21,230,524 (GRCm39) |
N692I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,754 (GRCm39) |
V274A |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,411,507 (GRCm39) |
I264T |
probably damaging |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,868,162 (GRCm39) |
W300R |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,035 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or8b38 |
A |
T |
9: 37,973,300 (GRCm39) |
H228L |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,628 (GRCm39) |
N229S |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,616,903 (GRCm39) |
T392I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,702 (GRCm38) |
W248* |
probably null |
Het |
| Pzp |
T |
A |
6: 128,498,087 (GRCm39) |
E243D |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,846 (GRCm39) |
L542Q |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,144 (GRCm39) |
T229I |
probably benign |
Het |
| Ssbp3 |
T |
C |
4: 106,894,855 (GRCm39) |
|
probably benign |
Het |
| Tfap2d |
A |
T |
1: 19,218,620 (GRCm39) |
Q373L |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,338,902 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,820,209 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,152,468 (GRCm39) |
|
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 |
|
|
IGL01467:Tiparp
|
APN |
3 |
65,460,030 (GRCm39) |
nonsense |
probably null |
|
|
IGL01468: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 |
Incidental Mutation