Incidental Mutation 'R0674:Tiparp'
| ID |
61556 |
| 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 |
038859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R0674 (G1)
|
| Quality Score |
187 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
65435868-65462939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65460586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 525
(I525T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047906]
|
| AlphaFold |
Q8C1B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047906
AA Change: I525T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: I525T
| 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
|
| Meta Mutation Damage Score |
0.0797 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 90.4%
|
| Validation Efficiency |
97% (124/128) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
A |
G |
3: 89,657,130 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,543,315 (GRCm39) |
M803K |
possibly damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,067,102 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
T |
C |
11: 72,872,711 (GRCm39) |
I753T |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,237,949 (GRCm39) |
V467M |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,098,775 (GRCm39) |
V1134E |
possibly damaging |
Het |
| Ccser2 |
A |
G |
14: 36,640,548 (GRCm39) |
C11R |
possibly damaging |
Het |
| Cd2ap |
T |
A |
17: 43,156,283 (GRCm39) |
I85F |
possibly damaging |
Het |
| Cd2bp2 |
C |
T |
7: 126,794,008 (GRCm39) |
E94K |
probably damaging |
Het |
| Chrna3 |
C |
A |
9: 54,922,456 (GRCm39) |
A451S |
probably damaging |
Het |
| Cmya5 |
C |
A |
13: 93,229,299 (GRCm39) |
V1930F |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,050,550 (GRCm39) |
T2229A |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,385,872 (GRCm39) |
L122H |
probably damaging |
Het |
| Cyp11b2 |
G |
A |
15: 74,727,393 (GRCm39) |
P96L |
probably damaging |
Het |
| Ddr1 |
G |
T |
17: 36,000,561 (GRCm39) |
S368* |
probably null |
Het |
| E2f1 |
T |
C |
2: 154,406,029 (GRCm39) |
K115E |
probably damaging |
Het |
| Erlec1 |
A |
T |
11: 30,885,073 (GRCm39) |
|
probably benign |
Het |
| Fus |
T |
A |
7: 127,571,948 (GRCm39) |
|
probably benign |
Het |
| Gml |
G |
A |
15: 74,685,709 (GRCm39) |
T92I |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,408,474 (GRCm39) |
S4567P |
probably damaging |
Het |
| Iglc2 |
A |
G |
16: 19,017,591 (GRCm39) |
S5P |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,715,390 (GRCm39) |
V1028A |
possibly damaging |
Het |
| Krt222 |
T |
A |
11: 99,127,086 (GRCm39) |
N178I |
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Luzp1 |
C |
T |
4: 136,270,768 (GRCm39) |
T997I |
possibly damaging |
Het |
| Maml1 |
G |
T |
11: 50,148,885 (GRCm39) |
Q952K |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,361 (GRCm39) |
E499G |
probably damaging |
Het |
| Map4k4 |
A |
T |
1: 40,042,975 (GRCm39) |
H118L |
probably damaging |
Het |
| Myzap |
T |
C |
9: 71,422,426 (GRCm39) |
D382G |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,707 (GRCm39) |
T510A |
probably benign |
Het |
| Nek6 |
G |
C |
2: 38,448,916 (GRCm39) |
G95R |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,913,481 (GRCm39) |
|
probably null |
Het |
| Nr1d2 |
T |
C |
14: 18,215,086 (GRCm38) |
S309G |
probably benign |
Het |
| Nrcam |
A |
T |
12: 44,611,105 (GRCm39) |
I570F |
probably benign |
Het |
| Oas1d |
T |
C |
5: 121,058,049 (GRCm39) |
I331T |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4f14 |
A |
T |
2: 111,743,018 (GRCm39) |
F86I |
probably benign |
Het |
| Or51b6 |
T |
C |
7: 103,556,462 (GRCm39) |
V272A |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,006,765 (GRCm39) |
W535R |
probably damaging |
Het |
| Pisd |
C |
T |
5: 32,931,781 (GRCm39) |
R202H |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,331,783 (GRCm39) |
N403S |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,533,924 (GRCm39) |
I180M |
probably benign |
Het |
| Prpf6 |
A |
G |
2: 181,273,767 (GRCm39) |
T304A |
probably benign |
Het |
| Ptprm |
G |
A |
17: 67,498,336 (GRCm39) |
T35I |
possibly damaging |
Het |
| Ptx3 |
T |
A |
3: 66,132,148 (GRCm39) |
I223N |
probably damaging |
Het |
| Pygb |
G |
A |
2: 150,657,054 (GRCm39) |
|
probably null |
Het |
| Qrsl1 |
A |
G |
10: 43,771,997 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,508,818 (GRCm39) |
|
probably null |
Het |
| Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
| Rimbp3 |
T |
C |
16: 17,030,601 (GRCm39) |
S1342P |
probably benign |
Het |
| Slc22a14 |
C |
A |
9: 119,007,608 (GRCm39) |
R267L |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,032,498 (GRCm39) |
|
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,142,131 (GRCm39) |
I375T |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,108,680 (GRCm39) |
L144P |
probably benign |
Het |
| Tssk2 |
A |
G |
16: 17,716,930 (GRCm39) |
D111G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,823 (GRCm39) |
T1740A |
possibly damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,129 (GRCm39) |
D381E |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,481,911 (GRCm39) |
T367M |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,495,735 (GRCm39) |
C80R |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,737,643 (GRCm39) |
|
probably null |
Het |
| Zfp52 |
A |
T |
17: 21,782,108 (GRCm39) |
H652L |
probably damaging |
Het |
| Zpr1 |
T |
A |
9: 46,186,747 (GRCm39) |
L194Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTTCATCCAAGTGCCTGTTTC -3'
(R):5'- GCCATGACTGCCCATTGTGTATCTG -3'
Sequencing Primer
(F):5'- GAGTCCAAAACCAATTTCTTTGGGAG -3'
(R):5'- GTGTATCTGCCAGTTAACACTTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation