Incidental Mutation 'R8234:Tiparp'
| ID |
637253 |
| 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 |
067666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R8234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
65435868-65462939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65439002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 106
(N106S)
|
| 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: N106S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: N106S
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (49/49) |
| 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 |
|---|
| Abhd4 |
T |
A |
14: 54,499,133 (GRCm39) |
M38K |
probably benign |
Het |
| Ackr1 |
T |
A |
1: 173,159,582 (GRCm39) |
R312S |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,094,845 (GRCm39) |
V2213A |
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,390,835 (GRCm39) |
R439W |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,864,920 (GRCm39) |
|
probably null |
Het |
| Casd1 |
A |
G |
6: 4,601,209 (GRCm39) |
N14S |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,242,974 (GRCm39) |
S542G |
probably benign |
Het |
| Cyb5rl |
A |
G |
4: 106,925,935 (GRCm39) |
Y39C |
probably damaging |
Het |
| Dmpk |
A |
T |
7: 18,822,048 (GRCm39) |
K335N |
probably benign |
Het |
| Dnai1 |
A |
G |
4: 41,625,221 (GRCm39) |
D395G |
probably benign |
Het |
| Dock4 |
C |
T |
12: 40,884,837 (GRCm39) |
|
probably null |
Het |
| Eif1ad5 |
A |
T |
12: 87,940,508 (GRCm39) |
I71L |
noncoding transcript |
Het |
| Fmo4 |
T |
C |
1: 162,632,757 (GRCm39) |
D198G |
probably damaging |
Het |
| Foxc2 |
G |
A |
8: 121,844,777 (GRCm39) |
R475Q |
probably damaging |
Het |
| Gipr |
C |
A |
7: 18,898,533 (GRCm39) |
G37V |
unknown |
Het |
| Gpat3 |
T |
C |
5: 101,005,076 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
A |
G |
9: 58,751,433 (GRCm39) |
D353G |
unknown |
Het |
| Hectd4 |
T |
A |
5: 121,477,607 (GRCm39) |
N2843K |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,469,761 (GRCm39) |
V4973M |
possibly damaging |
Het |
| Il20rb |
C |
T |
9: 100,341,263 (GRCm39) |
S281N |
probably benign |
Het |
| Kcnh4 |
A |
T |
11: 100,643,093 (GRCm39) |
N391K |
possibly damaging |
Het |
| Kitl |
A |
G |
10: 99,887,708 (GRCm39) |
T6A |
probably damaging |
Het |
| Krt36 |
A |
G |
11: 99,995,027 (GRCm39) |
Y182H |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 41,202,668 (GRCm39) |
I1262L |
|
Het |
| Mtf1 |
A |
G |
4: 124,738,039 (GRCm39) |
E644G |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,706 (GRCm39) |
Y159C |
probably damaging |
Het |
| Nags |
C |
T |
11: 102,039,824 (GRCm39) |
S504F |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,456,523 (GRCm39) |
F475L |
probably damaging |
Het |
| Nipal2 |
G |
T |
15: 34,600,178 (GRCm39) |
T213N |
possibly damaging |
Het |
| Or52m1 |
T |
A |
7: 102,289,678 (GRCm39) |
L75Q |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,313 (GRCm39) |
S188P |
probably damaging |
Het |
| Pkm |
T |
C |
9: 59,577,882 (GRCm39) |
V233A |
possibly damaging |
Het |
| Pros1 |
T |
A |
16: 62,748,540 (GRCm39) |
I671N |
possibly damaging |
Het |
| Rasd1 |
T |
C |
11: 59,855,118 (GRCm39) |
I121V |
probably damaging |
Het |
| Relch |
T |
C |
1: 105,681,235 (GRCm39) |
S1180P |
possibly damaging |
Het |
| Samhd1 |
A |
G |
2: 156,958,270 (GRCm39) |
|
probably null |
Het |
| Serpinb9f |
A |
T |
13: 33,509,898 (GRCm39) |
Y30F |
probably benign |
Het |
| Slc5a10 |
T |
C |
11: 61,564,107 (GRCm39) |
I543V |
probably benign |
Het |
| Stat5a |
A |
G |
11: 100,770,129 (GRCm39) |
I469V |
possibly damaging |
Het |
| Sugct |
T |
C |
13: 17,032,459 (GRCm39) |
E431G |
probably benign |
Het |
| Tecr |
C |
A |
8: 84,299,880 (GRCm39) |
R133L |
possibly damaging |
Het |
| Triml1 |
T |
C |
8: 43,594,285 (GRCm39) |
S49G |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,692,640 (GRCm39) |
S244T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,553,324 (GRCm39) |
D31055G |
probably damaging |
Het |
| Vcp |
A |
T |
4: 42,985,242 (GRCm39) |
I369N |
probably damaging |
Het |
| Vmn2r110 |
A |
C |
17: 20,804,691 (GRCm39) |
N76K |
probably benign |
Het |
| Vmn2r12 |
T |
C |
5: 109,234,074 (GRCm39) |
T713A |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,601,235 (GRCm39) |
K844N |
probably benign |
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 |
|
R8023:Tiparp
|
UTSW |
3 |
65,439,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AAGATTGGGAACTGGAACCC -3'
(R):5'- ATCTACGCAGTCAGGACTTGTAGG -3'
Sequencing Primer
(F):5'- GAACTGGAACCCTGAGATCCTTG -3'
(R):5'- TCAGGACTTGTAGGAACATCACCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation