Incidental Mutation 'R8487:Tiparp'
| ID |
657775 |
| 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 |
067930-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R8487 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
65435868-65462939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65453655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 134
(N134K)
|
| 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: N316K
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: N316K
| 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: N134K
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119951
Gene: ENSMUSG00000034640
AA Change: N134K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C3H1
|
56 |
82 |
3e-9 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,565,122 (GRCm39) |
I153V |
probably benign |
Het |
| Arhgap21 |
A |
C |
2: 20,886,116 (GRCm39) |
S354A |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,896,516 (GRCm39) |
T727A |
probably damaging |
Het |
| Brinp1 |
C |
T |
4: 68,747,692 (GRCm39) |
G137E |
probably damaging |
Het |
| Catsperd |
A |
G |
17: 56,970,419 (GRCm39) |
Y697C |
probably damaging |
Het |
| Ccdc39 |
T |
A |
3: 33,886,808 (GRCm39) |
K267* |
probably null |
Het |
| Ccdc47 |
C |
A |
11: 106,092,971 (GRCm39) |
V92L |
possibly damaging |
Het |
| Cyp2c54 |
A |
T |
19: 40,059,990 (GRCm39) |
I181N |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,427,184 (GRCm39) |
D753V |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 91,935,796 (GRCm39) |
K641N |
probably damaging |
Het |
| Eloa |
G |
A |
4: 135,736,668 (GRCm39) |
R527C |
probably benign |
Het |
| Fancd2 |
C |
T |
6: 113,545,187 (GRCm39) |
P835L |
probably damaging |
Het |
| Fbln2 |
C |
G |
6: 91,227,846 (GRCm39) |
T428S |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,153,462 (GRCm39) |
A2600V |
possibly damaging |
Het |
| Gbe1 |
A |
G |
16: 70,233,876 (GRCm39) |
Y251C |
probably damaging |
Het |
| Gnptab |
T |
A |
10: 88,268,508 (GRCm39) |
|
probably null |
Het |
| Hspa1a |
T |
A |
17: 35,191,033 (GRCm39) |
|
probably benign |
Het |
| Ifi204 |
G |
A |
1: 173,587,839 (GRCm39) |
P107S |
probably damaging |
Het |
| Kif6 |
A |
G |
17: 49,978,164 (GRCm39) |
I119V |
probably damaging |
Het |
| Lmntd2 |
G |
A |
7: 140,790,427 (GRCm39) |
H554Y |
probably benign |
Het |
| Lrrc8e |
C |
A |
8: 4,284,218 (GRCm39) |
H148N |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,050,914 (GRCm39) |
N613D |
probably damaging |
Het |
| Map4k4 |
C |
T |
1: 40,028,136 (GRCm39) |
T319M |
probably damaging |
Het |
| Mbtps1 |
C |
T |
8: 120,268,413 (GRCm39) |
V253I |
probably damaging |
Het |
| Mcm4 |
C |
A |
16: 15,450,042 (GRCm39) |
C330F |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,776,341 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
C |
9: 72,577,321 (GRCm39) |
C49R |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,983 (GRCm39) |
V490A |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,819,584 (GRCm39) |
F27I |
probably damaging |
Het |
| Or10g3b |
A |
T |
14: 52,586,696 (GRCm39) |
L269Q |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,061,647 (GRCm39) |
S26G |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,665,609 (GRCm39) |
N227D |
probably benign |
Het |
| Or5p73 |
G |
T |
7: 108,064,784 (GRCm39) |
M84I |
possibly damaging |
Het |
| Or6c66 |
A |
G |
10: 129,461,114 (GRCm39) |
I272T |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,206,968 (GRCm39) |
M1V |
probably null |
Het |
| Pcdhga12 |
A |
G |
18: 37,900,631 (GRCm39) |
T488A |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,864,909 (GRCm39) |
D99G |
possibly damaging |
Het |
| Polr3h |
T |
C |
15: 81,800,824 (GRCm39) |
T173A |
probably benign |
Het |
| Pramel6 |
C |
T |
2: 87,339,045 (GRCm39) |
L82F |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,230,463 (GRCm39) |
I1034N |
probably damaging |
Het |
| Rbfox1 |
G |
A |
16: 7,042,319 (GRCm39) |
V58I |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,104,027 (GRCm39) |
I3315L |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,682,844 (GRCm39) |
S321T |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,740,292 (GRCm39) |
T3908A |
probably damaging |
Het |
| Secisbp2l |
G |
T |
2: 125,617,502 (GRCm39) |
Y58* |
probably null |
Het |
| Sgms1 |
C |
A |
19: 32,102,697 (GRCm39) |
V337L |
probably benign |
Het |
| Slc38a2 |
G |
A |
15: 96,593,172 (GRCm39) |
Q136* |
probably null |
Het |
| Smarcd1 |
T |
A |
15: 99,605,657 (GRCm39) |
V296D |
probably damaging |
Het |
| Smcr8 |
A |
C |
11: 60,674,822 (GRCm39) |
H866P |
probably damaging |
Het |
| Spcs1 |
T |
A |
14: 30,722,721 (GRCm39) |
I33L |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,688,033 (GRCm39) |
R423G |
possibly damaging |
Het |
| Syt4 |
A |
T |
18: 31,576,790 (GRCm39) |
M188K |
possibly damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,376,869 (GRCm39) |
D22G |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,579,001 (GRCm39) |
D637G |
possibly damaging |
Het |
| Trav14d-3-dv8 |
A |
T |
14: 53,316,192 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,166 (GRCm39) |
M240L |
probably benign |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,514 (GRCm39) |
S29T |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,881,817 (GRCm39) |
F1253L |
probably benign |
Het |
| Zfp407 |
G |
A |
18: 84,580,895 (GRCm39) |
R73* |
probably null |
Het |
| Zfp446 |
T |
A |
7: 12,716,555 (GRCm39) |
F334I |
possibly damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,011 (GRCm39) |
Y730* |
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 |
|
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 |
|
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'- GTTGGGGAAACAACCAATAATGTTC -3'
(R):5'- TTCTGCTTAGTCACTATTGGAAAGG -3'
Sequencing Primer
(F):5'- GACAGTTCTACATCAGGCTA -3'
(R):5'- TCTCCATCCAAAGTGGTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation