Incidental Mutation 'R8023:Tiparp'
| ID |
617506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tiparp
|
| Ensembl Gene |
ENSMUSG00000034640 |
| Gene Name |
TCDD-inducible poly(ADP-ribose) polymerase |
| Synonyms |
PARP7, DDF1, PARP-7 |
| MMRRC Submission |
067462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R8023 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
65435868-65462939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65439224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 180
(D180G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047906]
[ENSMUST00000130705]
|
| AlphaFold |
Q8C1B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047906
AA Change: D180G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: D180G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C3H1
|
238 |
264 |
2e-8 |
BLAST |
|
Pfam:PARP
|
463 |
650 |
2e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130705
|
| SMART Domains |
Protein: ENSMUSP00000119951
Gene: ENSMUSG00000034640
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C3H1
|
56 |
82 |
3e-9 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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 |
|---|
| Acsbg2 |
A |
G |
17: 57,152,448 (GRCm39) |
Y665H |
probably damaging |
Het |
| Acte1 |
T |
C |
7: 143,445,528 (GRCm39) |
S192P |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 111,474,345 (GRCm39) |
V378E |
probably benign |
Het |
| Card9 |
T |
C |
2: 26,247,327 (GRCm39) |
D274G |
probably benign |
Het |
| Ccnc |
T |
C |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
G |
6: 4,533,847 (GRCm39) |
S843A |
unknown |
Het |
| Cux1 |
T |
A |
5: 136,402,251 (GRCm39) |
I111F |
probably damaging |
Het |
| Fam24b |
A |
C |
7: 130,927,869 (GRCm39) |
S107A |
probably benign |
Het |
| Fndc7 |
C |
T |
3: 108,774,461 (GRCm39) |
C599Y |
probably damaging |
Het |
| Gm3604 |
G |
A |
13: 62,517,683 (GRCm39) |
A225V |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,277,640 (GRCm39) |
V475A |
probably benign |
Het |
| H2ac20 |
A |
G |
3: 96,128,106 (GRCm39) |
S19P |
unknown |
Het |
| Heg1 |
T |
A |
16: 33,550,895 (GRCm39) |
V958E |
possibly damaging |
Het |
| Hibch |
T |
C |
1: 52,899,197 (GRCm39) |
M30T |
probably benign |
Het |
| Hk2 |
T |
A |
6: 82,705,790 (GRCm39) |
M838L |
probably benign |
Het |
| Hpd |
A |
G |
5: 123,314,297 (GRCm39) |
F206S |
probably damaging |
Het |
| Il34 |
C |
T |
8: 111,469,284 (GRCm39) |
C177Y |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,820,260 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,088,988 (GRCm39) |
I2240T |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,321 (GRCm39) |
|
probably null |
Het |
| Mpz |
A |
G |
1: 170,987,602 (GRCm39) |
D246G |
probably damaging |
Het |
| Ncam1 |
C |
A |
9: 49,421,057 (GRCm39) |
A753S |
probably benign |
Het |
| Ndufs2 |
A |
T |
1: 171,064,263 (GRCm39) |
M375K |
probably damaging |
Het |
| Obox2 |
A |
G |
7: 15,131,145 (GRCm39) |
K84E |
possibly damaging |
Het |
| Or4c31 |
A |
G |
2: 88,292,022 (GRCm39) |
I132V |
probably benign |
Het |
| Or51k1 |
A |
G |
7: 103,661,006 (GRCm39) |
I301T |
probably damaging |
Het |
| Or7e178 |
C |
T |
9: 20,225,545 (GRCm39) |
V224I |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,795,241 (GRCm39) |
L665Q |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,099 (GRCm39) |
E38G |
probably benign |
Het |
| Ptpn3 |
G |
C |
4: 57,248,688 (GRCm39) |
D215E |
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,488,477 (GRCm39) |
Q987* |
probably null |
Het |
| Ranbp6 |
T |
C |
19: 29,789,222 (GRCm39) |
S377G |
possibly damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,594,506 (GRCm39) |
L168Q |
probably damaging |
Het |
| Sall1 |
A |
G |
8: 89,759,171 (GRCm39) |
I311T |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,930,390 (GRCm39) |
Y211C |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,859,813 (GRCm39) |
Y314F |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc6a20a |
T |
C |
9: 123,489,657 (GRCm39) |
N129D |
probably damaging |
Het |
| Slu7 |
G |
A |
11: 43,336,975 (GRCm39) |
R572Q |
probably benign |
Het |
| Tbx6 |
C |
T |
7: 126,382,031 (GRCm39) |
A123V |
possibly damaging |
Het |
| Tcn2 |
A |
T |
11: 3,877,579 (GRCm39) |
I23K |
possibly damaging |
Het |
| Tln2 |
A |
G |
9: 67,131,346 (GRCm39) |
L1400P |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,863,571 (GRCm39) |
T588A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,769,564 (GRCm39) |
V2741A |
unknown |
Het |
| Txlna |
A |
T |
4: 129,533,278 (GRCm39) |
S83R |
probably damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,272 (GRCm39) |
Q382* |
probably null |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,028 (GRCm39) |
V424A |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,256,553 (GRCm39) |
L1508I |
probably damaging |
Het |
| Zfp189 |
G |
A |
4: 49,530,312 (GRCm39) |
G472R |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,073,106 (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 |
|
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCGCATCCTTCTACAGATG -3'
(R):5'- CCCTGCCATAAATGCAAGTG -3'
Sequencing Primer
(F):5'- TTCTACAGATGCTCCAGAACAGGG -3'
(R):5'- CTGCCATAAATGCAAGTGCCTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation