Incidental Mutation 'IGL02322:Tiparp'
| ID |
288278 |
| 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 # |
IGL02322
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
65435868-65462939 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 65439441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 70
(C70*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047906]
[ENSMUST00000130705]
|
| AlphaFold |
Q8C1B2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047906
AA Change: C252*
|
| SMART Domains |
Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: C252*
| 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: ENSMUST00000099076
|
| SMART Domains |
Protein: ENSMUSP00000096675
Gene: ENSMUSG00000074580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130705
AA Change: C70*
|
| SMART Domains |
Protein: ENSMUSP00000119951
Gene: ENSMUSG00000034640
AA Change: C70*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C3H1
|
56 |
82 |
3e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193051
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
G |
A |
8: 106,425,268 (GRCm39) |
A355V |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,445,990 (GRCm39) |
V801A |
probably damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,564,619 (GRCm39) |
V479D |
possibly damaging |
Het |
| Arid5a |
C |
T |
1: 36,358,497 (GRCm39) |
P423L |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,258,920 (GRCm39) |
I650V |
probably benign |
Het |
| B4gat1 |
C |
A |
19: 5,089,155 (GRCm39) |
P51T |
possibly damaging |
Het |
| Caskin2 |
G |
A |
11: 115,695,303 (GRCm39) |
T310M |
probably damaging |
Het |
| Ccdc121rt1 |
A |
G |
1: 181,337,999 (GRCm39) |
S318P |
possibly damaging |
Het |
| Ccdc159 |
G |
T |
9: 21,840,669 (GRCm39) |
V79L |
possibly damaging |
Het |
| Ccser2 |
A |
T |
14: 36,631,086 (GRCm39) |
V18E |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,722,581 (GRCm39) |
V432A |
probably benign |
Het |
| Cdh11 |
A |
T |
8: 103,374,151 (GRCm39) |
F529Y |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,832,248 (GRCm39) |
E1370G |
probably damaging |
Het |
| Col22a1 |
C |
A |
15: 71,694,502 (GRCm39) |
G717C |
unknown |
Het |
| Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
| Ctrb1 |
A |
C |
8: 112,415,951 (GRCm39) |
|
probably null |
Het |
| Cyp2b19 |
T |
C |
7: 26,461,803 (GRCm39) |
S208P |
possibly damaging |
Het |
| Dnmt3l |
T |
A |
10: 77,888,572 (GRCm39) |
I158N |
possibly damaging |
Het |
| Evi5l |
T |
C |
8: 4,237,236 (GRCm39) |
|
probably benign |
Het |
| Fkbpl |
A |
G |
17: 34,864,298 (GRCm39) |
E22G |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,894,676 (GRCm38) |
F825I |
probably damaging |
Het |
| Gjb6 |
A |
T |
14: 57,361,732 (GRCm39) |
N176K |
probably damaging |
Het |
| Gpc2 |
G |
T |
5: 138,274,499 (GRCm39) |
|
probably null |
Het |
| H1f7 |
T |
C |
15: 98,154,757 (GRCm39) |
T131A |
possibly damaging |
Het |
| Il20 |
C |
T |
1: 130,837,313 (GRCm39) |
C104Y |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,310,722 (GRCm39) |
N212S |
probably benign |
Het |
| Olfm5 |
C |
T |
7: 103,803,608 (GRCm39) |
G210D |
probably damaging |
Het |
| Olig2 |
T |
C |
16: 91,023,546 (GRCm39) |
S87P |
probably benign |
Het |
| Or2y15 |
A |
G |
11: 49,350,784 (GRCm39) |
S93G |
probably benign |
Het |
| Or4c121 |
T |
A |
2: 89,023,806 (GRCm39) |
T191S |
probably damaging |
Het |
| Osbpl7 |
G |
T |
11: 96,946,950 (GRCm39) |
A418S |
probably benign |
Het |
| Otog |
G |
T |
7: 45,950,881 (GRCm39) |
R2551L |
probably benign |
Het |
| Oxt |
A |
T |
2: 130,418,200 (GRCm39) |
N24I |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,448,419 (GRCm39) |
Y626C |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,896,894 (GRCm39) |
K934* |
probably null |
Het |
| Pramel14 |
G |
A |
4: 143,718,591 (GRCm39) |
|
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,783,110 (GRCm39) |
N57K |
probably damaging |
Het |
| Rapsn |
A |
G |
2: 90,872,251 (GRCm39) |
D195G |
possibly damaging |
Het |
| Rimbp3 |
T |
G |
16: 17,029,479 (GRCm39) |
F968V |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,499 (GRCm39) |
N1047S |
possibly damaging |
Het |
| Slc35g1 |
C |
T |
19: 38,389,013 (GRCm39) |
R107* |
probably null |
Het |
| Ssh2 |
A |
C |
11: 77,307,239 (GRCm39) |
|
probably null |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,197 (GRCm39) |
I824T |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,570,687 (GRCm39) |
S402P |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,845,183 (GRCm39) |
E2089G |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,339,082 (GRCm39) |
H441L |
probably benign |
Het |
| Zdhhc3 |
C |
T |
9: 122,929,542 (GRCm39) |
G31D |
probably benign |
Het |
| Zfp330 |
A |
G |
8: 83,497,450 (GRCm39) |
L64S |
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 |
|
|
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 |
|
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