Incidental Mutation 'R9799:Tiparp'
| ID |
735089 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.829)
|
| Stock # |
R9799 (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 T
at 65454973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 373
(N373Y)
|
| 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: N373Y
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: N373Y
| 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: N191Y
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000119951
Gene: ENSMUSG00000034640
AA Change: N191Y
| 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: 98.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,132,998 (GRCm39) |
Y1309C |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,768,961 (GRCm39) |
T1056A |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,805,489 (GRCm39) |
R826S |
probably damaging |
Het |
| Agxt |
T |
C |
1: 93,063,070 (GRCm39) |
W19R |
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,333,278 (GRCm39) |
E52K |
possibly damaging |
Het |
| Arhgef10 |
T |
C |
8: 14,990,268 (GRCm39) |
Y248H |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,855,391 (GRCm39) |
D232G |
unknown |
Het |
| Arid4b |
T |
C |
13: 14,358,967 (GRCm39) |
S668P |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,417,505 (GRCm39) |
S775R |
probably damaging |
Het |
| Ccl25 |
T |
C |
8: 4,377,799 (GRCm39) |
F20L |
unknown |
Het |
| Cimap1a |
A |
T |
7: 140,430,706 (GRCm39) |
E254D |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,842,988 (GRCm39) |
H218L |
probably benign |
Het |
| Csnka2ip |
T |
C |
16: 64,298,672 (GRCm39) |
K564R |
unknown |
Het |
| Cyp2r1 |
A |
G |
7: 114,151,207 (GRCm39) |
F371L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,469,812 (GRCm39) |
F392I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,557,968 (GRCm39) |
T2149A |
probably benign |
Het |
| Emx2 |
A |
G |
19: 59,448,036 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Erbin |
T |
C |
13: 103,971,384 (GRCm39) |
D744G |
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,258,924 (GRCm39) |
N140S |
probably damaging |
Het |
| Gnai2 |
C |
T |
9: 107,512,380 (GRCm39) |
A13T |
probably benign |
Het |
| Gpr150 |
T |
C |
13: 76,204,636 (GRCm39) |
Y103C |
possibly damaging |
Het |
| Gstp2 |
A |
G |
19: 4,091,901 (GRCm39) |
|
probably null |
Het |
| Kdr |
A |
G |
5: 76,117,752 (GRCm39) |
I667T |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,612,400 (GRCm39) |
I534T |
|
Het |
| Lrrtm3 |
T |
A |
10: 63,925,749 (GRCm39) |
|
probably benign |
Het |
| Meiob |
C |
T |
17: 25,042,574 (GRCm39) |
T134I |
probably benign |
Het |
| Msh2 |
G |
T |
17: 88,024,933 (GRCm39) |
A604S |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,062,780 (GRCm39) |
T319A |
possibly damaging |
Het |
| Myo3a |
C |
T |
2: 22,490,181 (GRCm39) |
T1514I |
probably damaging |
Het |
| Ndfip2 |
T |
C |
14: 105,496,400 (GRCm39) |
M98T |
possibly damaging |
Het |
| Nfatc2ip |
A |
G |
7: 125,989,739 (GRCm39) |
V215A |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,065 (GRCm39) |
T46S |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,732 (GRCm39) |
M118K |
probably damaging |
Het |
| Pabpc6 |
C |
T |
17: 9,888,114 (GRCm39) |
E146K |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,122,613 (GRCm39) |
Y727C |
probably damaging |
Het |
| Pemt |
A |
G |
11: 59,937,174 (GRCm39) |
F30L |
possibly damaging |
Het |
| Plch1 |
A |
G |
3: 63,605,591 (GRCm39) |
S1438P |
possibly damaging |
Het |
| Pnma2 |
T |
A |
14: 67,154,009 (GRCm39) |
H144Q |
probably benign |
Het |
| Ppp1r14b |
A |
G |
19: 6,952,825 (GRCm39) |
N70S |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,054,236 (GRCm39) |
M725K |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,858,489 (GRCm39) |
K533E |
probably benign |
Het |
| Rb1cc1 |
C |
A |
1: 6,315,126 (GRCm39) |
H426Q |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,027,641 (GRCm39) |
E355G |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,578,182 (GRCm39) |
F170L |
probably damaging |
Het |
| Sema3f |
G |
T |
9: 107,562,562 (GRCm39) |
A473E |
probably damaging |
Het |
| Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
| Siglec1 |
G |
T |
2: 130,915,941 (GRCm39) |
P1307Q |
probably damaging |
Het |
| Srd5a2 |
A |
C |
17: 74,331,535 (GRCm39) |
I154S |
possibly damaging |
Het |
| Sugp1 |
A |
G |
8: 70,523,068 (GRCm39) |
E537G |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,074 (GRCm39) |
E91G |
possibly damaging |
Het |
| Tmem217 |
A |
C |
17: 29,745,232 (GRCm39) |
I166S |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,563,406 (GRCm39) |
Y746N |
probably damaging |
Het |
| Tubb2a |
C |
T |
13: 34,260,607 (GRCm39) |
D31N |
probably benign |
Het |
| Utrn |
T |
G |
10: 12,585,736 (GRCm39) |
I1014L |
probably benign |
Het |
| Vtn |
T |
C |
11: 78,392,625 (GRCm39) |
I401T |
probably benign |
Het |
| Wwc2 |
G |
T |
8: 48,321,595 (GRCm39) |
H506Q |
unknown |
Het |
| Xab2 |
G |
T |
8: 3,668,182 (GRCm39) |
T132N |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGATAGCTATGCTCTTGTGAG -3'
(R):5'- GGAATGCACAATTTCACATTCCAG -3'
Sequencing Primer
(F):5'- GTGTCTTTCTACTTGTAAGGCTAAG -3'
(R):5'- GCACAATTTCACATTCCAGTAATAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation