Incidental Mutation 'IGL01448:Tiparp'
| ID |
84499 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tiparp
|
| Ensembl Gene |
ENSMUSG00000034640 |
| Gene Name |
TCDD-inducible poly(ADP-ribose) polymerase |
| Synonyms |
PARP7, PARP-7, DDF1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.765)
|
| Stock # |
IGL01448
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
65528410-65555518 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 65552609 bp (GRCm38)
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
A |
T |
2: 130,405,847 (GRCm38) |
E75D |
possibly damaging |
Het |
| 1700084J12Rik |
A |
G |
15: 33,405,633 (GRCm38) |
|
probably benign |
Het |
| 2610303G11Rik |
T |
A |
9: 98,186,709 (GRCm38) |
|
noncoding transcript |
Het |
| 4931414P19Rik |
T |
C |
14: 54,585,960 (GRCm38) |
D320G |
possibly damaging |
Het |
| Adamts6 |
G |
A |
13: 104,297,164 (GRCm38) |
E34K |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,677,899 (GRCm38) |
N3142K |
possibly damaging |
Het |
| Anapc7 |
G |
A |
5: 122,428,213 (GRCm38) |
A62T |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,520,422 (GRCm38) |
P1152L |
probably benign |
Het |
| Cc2d2a |
C |
T |
5: 43,684,185 (GRCm38) |
T181I |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,393,239 (GRCm38) |
L2835P |
probably damaging |
Het |
| Ctns |
A |
T |
11: 73,188,722 (GRCm38) |
V99D |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,771,927 (GRCm38) |
R429G |
probably damaging |
Het |
| Ddx11 |
T |
C |
17: 66,134,137 (GRCm38) |
V218A |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,865,563 (GRCm38) |
|
probably benign |
Het |
| Erich1 |
G |
T |
8: 14,078,853 (GRCm38) |
T29N |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,729,265 (GRCm38) |
E215G |
probably damaging |
Het |
| Fam184a |
G |
T |
10: 53,698,949 (GRCm38) |
A188E |
probably benign |
Het |
| Fign |
A |
G |
2: 63,979,688 (GRCm38) |
S413P |
probably damaging |
Het |
| Fkbp6 |
A |
G |
5: 135,349,696 (GRCm38) |
S33P |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,450,677 (GRCm38) |
|
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,323,461 (GRCm38) |
|
probably benign |
Het |
| Helz2 |
T |
C |
2: 181,233,977 (GRCm38) |
T1575A |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,474,730 (GRCm38) |
E32G |
probably damaging |
Het |
| Ints5 |
C |
T |
19: 8,895,487 (GRCm38) |
P270L |
possibly damaging |
Het |
| Itga7 |
G |
T |
10: 128,949,468 (GRCm38) |
E847* |
probably null |
Het |
| Kcns3 |
A |
C |
12: 11,091,643 (GRCm38) |
S352A |
possibly damaging |
Het |
| Kiz |
A |
G |
2: 146,863,801 (GRCm38) |
K94E |
probably benign |
Het |
| Lin7b |
C |
T |
7: 45,369,200 (GRCm38) |
V12M |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,811,704 (GRCm38) |
I1409N |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,644,090 (GRCm38) |
H407R |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 33,898,802 (GRCm38) |
T506A |
probably damaging |
Het |
| Or10p21 |
A |
G |
10: 129,011,860 (GRCm38) |
T192A |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,101,082 (GRCm38) |
M136K |
probably damaging |
Het |
| Or5p72 |
T |
A |
7: 108,423,028 (GRCm38) |
Y152* |
probably null |
Het |
| Or6c69 |
A |
G |
10: 129,912,245 (GRCm38) |
I11T |
possibly damaging |
Het |
| Pclo |
A |
C |
5: 14,676,394 (GRCm38) |
|
probably benign |
Het |
| Pes1 |
G |
A |
11: 3,977,979 (GRCm38) |
E544K |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,740,745 (GRCm38) |
|
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 79,068,937 (GRCm38) |
M1521V |
probably benign |
Het |
| Rapgef2 |
C |
T |
3: 79,103,962 (GRCm38) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,040,405 (GRCm38) |
V735A |
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,945,076 (GRCm38) |
S316P |
possibly damaging |
Het |
| Smarce1 |
C |
T |
11: 99,210,187 (GRCm38) |
G373E |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,701,559 (GRCm38) |
R918S |
probably benign |
Het |
| St3gal4 |
T |
C |
9: 35,052,331 (GRCm38) |
K227R |
probably benign |
Het |
| Stra6l |
T |
A |
4: 45,864,864 (GRCm38) |
|
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,215,979 (GRCm38) |
I425V |
probably damaging |
Het |
| Tcaf2 |
T |
C |
6: 42,630,328 (GRCm38) |
T231A |
probably benign |
Het |
| Tnks |
A |
G |
8: 34,839,982 (GRCm38) |
Y1138H |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,996,857 (GRCm38) |
I231F |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,406,395 (GRCm38) |
N388K |
probably damaging |
Het |
| Zbed3 |
A |
G |
13: 95,336,634 (GRCm38) |
K189E |
possibly damaging |
Het |
| Zfp512b |
T |
C |
2: 181,587,785 (GRCm38) |
T625A |
possibly damaging |
Het |
| Zfp827 |
A |
T |
8: 79,060,733 (GRCm38) |
Q176L |
possibly damaging |
Het |
|
| Other mutations in Tiparp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Tiparp
|
APN |
3 |
65,532,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01452:Tiparp
|
APN |
3 |
65,552,609 (GRCm38) |
nonsense |
probably null |
|
|
IGL01454:Tiparp
|
APN |
3 |
65,552,609 (GRCm38) |
nonsense |
probably null |
|
|
IGL01456:Tiparp
|
APN |
3 |
65,552,609 (GRCm38) |
nonsense |
probably null |
|
|
IGL01463:Tiparp
|
APN |
3 |
65,552,609 (GRCm38) |
nonsense |
probably null |
|
|
IGL01467:Tiparp
|
APN |
3 |
65,552,609 (GRCm38) |
nonsense |
probably null |
|
|
IGL01468:Tiparp
|
APN |
3 |
65,552,609 (GRCm38) |
nonsense |
probably null |
|
|
IGL01470:Tiparp
|
APN |
3 |
65,552,609 (GRCm38) |
nonsense |
probably null |
|
|
IGL01476:Tiparp
|
APN |
3 |
65,552,609 (GRCm38) |
nonsense |
probably null |
|
|
IGL01481:Tiparp
|
APN |
3 |
65,552,609 (GRCm38) |
nonsense |
probably null |
|
|
IGL01590:Tiparp
|
APN |
3 |
65,531,976 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL01684:Tiparp
|
APN |
3 |
65,553,333 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02322:Tiparp
|
APN |
3 |
65,532,020 (GRCm38) |
nonsense |
probably null |
|
|
IGL02572:Tiparp
|
APN |
3 |
65,531,889 (GRCm38) |
missense |
probably benign |
0.01 |
|
Albania
|
UTSW |
3 |
65,553,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Moldova
|
UTSW |
3 |
65,553,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB003:Tiparp
|
UTSW |
3 |
65,553,525 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
BB013:Tiparp
|
UTSW |
3 |
65,553,525 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0401:Tiparp
|
UTSW |
3 |
65,531,436 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0674:Tiparp
|
UTSW |
3 |
65,553,165 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1316:Tiparp
|
UTSW |
3 |
65,553,351 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1766:Tiparp
|
UTSW |
3 |
65,532,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2140:Tiparp
|
UTSW |
3 |
65,529,252 (GRCm38) |
intron |
probably benign |
|
|
R2568:Tiparp
|
UTSW |
3 |
65,553,130 (GRCm38) |
nonsense |
probably null |
|
|
R4533:Tiparp
|
UTSW |
3 |
65,546,347 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4751:Tiparp
|
UTSW |
3 |
65,552,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4812:Tiparp
|
UTSW |
3 |
65,552,769 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5268:Tiparp
|
UTSW |
3 |
65,547,565 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5622:Tiparp
|
UTSW |
3 |
65,547,525 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5693:Tiparp
|
UTSW |
3 |
65,553,492 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5765:Tiparp
|
UTSW |
3 |
65,531,350 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6061:Tiparp
|
UTSW |
3 |
65,553,243 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6875:Tiparp
|
UTSW |
3 |
65,531,642 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7123:Tiparp
|
UTSW |
3 |
65,553,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7926:Tiparp
|
UTSW |
3 |
65,553,525 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R8023:Tiparp
|
UTSW |
3 |
65,531,803 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8234:Tiparp
|
UTSW |
3 |
65,531,581 (GRCm38) |
missense |
probably benign |
|
|
R8416:Tiparp
|
UTSW |
3 |
65,531,346 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8487:Tiparp
|
UTSW |
3 |
65,546,234 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8547:Tiparp
|
UTSW |
3 |
65,546,377 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8690:Tiparp
|
UTSW |
3 |
65,553,542 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8750:Tiparp
|
UTSW |
3 |
65,552,704 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8900:Tiparp
|
UTSW |
3 |
65,553,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8940:Tiparp
|
UTSW |
3 |
65,531,878 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9323:Tiparp
|
UTSW |
3 |
65,531,851 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9505:Tiparp
|
UTSW |
3 |
65,532,156 (GRCm38) |
nonsense |
probably null |
|
|
R9558:Tiparp
|
UTSW |
3 |
65,531,431 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9597:Tiparp
|
UTSW |
3 |
65,531,280 (GRCm38) |
missense |
probably benign |
|
|
R9799:Tiparp
|
UTSW |
3 |
65,547,552 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-11-11 |
Incidental Mutation