Incidental Mutation 'R4533:Tiparp'
| ID |
333187 |
| 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 |
041773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.829)
|
| Stock # |
R4533 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
65435868-65462939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65453768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 172
(D172G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047906]
[ENSMUST00000130705]
|
| AlphaFold |
Q8C1B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047906
AA Change: D354G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: D354G
| 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
AA Change: D172G
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000119951
Gene: ENSMUSG00000034640
AA Change: D172G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C3H1
|
56 |
82 |
3e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154094
|
| Meta Mutation Damage Score |
0.4630 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (54/54) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,062,761 (GRCm39) |
Y405C |
probably damaging |
Het |
| Ago3 |
A |
T |
4: 126,239,356 (GRCm39) |
S832T |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,929,798 (GRCm39) |
E561G |
possibly damaging |
Het |
| Art5 |
T |
C |
7: 101,747,545 (GRCm39) |
H78R |
probably benign |
Het |
| Blvra |
T |
A |
2: 126,932,304 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
A |
G |
4: 83,575,579 (GRCm39) |
T488A |
possibly damaging |
Het |
| Crtc3 |
A |
T |
7: 80,239,543 (GRCm39) |
M603K |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,981,037 (GRCm39) |
|
probably null |
Het |
| Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm7356 |
A |
C |
17: 14,221,672 (GRCm39) |
I119R |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,449,392 (GRCm39) |
D1963E |
probably benign |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,147 (GRCm39) |
V21D |
probably damaging |
Het |
| Itga3 |
T |
G |
11: 94,948,119 (GRCm39) |
Q602P |
probably benign |
Het |
| Kcmf1 |
G |
A |
6: 72,826,574 (GRCm39) |
R152C |
probably damaging |
Het |
| Lin54 |
T |
C |
5: 100,633,262 (GRCm39) |
I141V |
possibly damaging |
Het |
| Mast1 |
T |
A |
8: 85,647,990 (GRCm39) |
H497L |
probably damaging |
Het |
| Mrpl44 |
T |
C |
1: 79,753,971 (GRCm39) |
F41S |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,840,891 (GRCm39) |
R2301G |
probably damaging |
Het |
| Nek1 |
A |
T |
8: 61,460,247 (GRCm39) |
M58L |
possibly damaging |
Het |
| Or4k15c |
T |
C |
14: 50,321,156 (GRCm39) |
|
probably null |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,831,371 (GRCm39) |
V338A |
possibly damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcdha7 |
T |
C |
18: 37,108,460 (GRCm39) |
V495A |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,933,640 (GRCm39) |
E895G |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,516,057 (GRCm39) |
E770G |
probably damaging |
Het |
| Ptchd3 |
C |
T |
11: 121,727,257 (GRCm39) |
S377F |
probably damaging |
Het |
| Ptprj |
C |
T |
2: 90,270,299 (GRCm39) |
D1266N |
probably damaging |
Het |
| Raly |
A |
T |
2: 154,707,853 (GRCm39) |
E291V |
probably damaging |
Het |
| Rnf217 |
C |
A |
10: 31,484,759 (GRCm39) |
C141F |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,714 (GRCm39) |
M914V |
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,547 (GRCm39) |
T1035A |
probably damaging |
Het |
| Tex14 |
C |
T |
11: 87,427,655 (GRCm39) |
R36* |
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,970,994 (GRCm39) |
I466N |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,772,963 (GRCm39) |
T426A |
possibly damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,756 (GRCm39) |
H177Q |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
| Vwc2l |
G |
A |
1: 70,921,298 (GRCm39) |
C151Y |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,117,354 (GRCm39) |
Y414C |
probably benign |
Het |
| Zfp609 |
A |
C |
9: 65,610,890 (GRCm39) |
V691G |
probably benign |
Het |
| Zmiz1 |
T |
C |
14: 25,646,084 (GRCm39) |
Y254H |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGGAAATGTTGGTCTAGTTAG -3'
(R):5'- AAGTTTTACCTGTACCAGCAAGAC -3'
Sequencing Primer
(F):5'- GTTGGGGAAACAACCAATAATGTTC -3'
(R):5'- CTTAGTCACTATTGGAAAGGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation