Incidental Mutation 'R1104:Parp14'
ID |
98412 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Parp14
|
Ensembl Gene |
ENSMUSG00000034422 |
Gene Name |
poly (ADP-ribose) polymerase family, member 14 |
Synonyms |
CoaSt6, collaborator of Stat6, 1600029O10Rik |
MMRRC Submission |
039177-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.493)
|
Stock # |
R1104 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
35653244-35691914 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 35664785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042665]
|
AlphaFold |
Q2EMV9 |
PDB Structure |
Solution structure of WWE domain in Parp14 protein [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000042665
|
SMART Domains |
Protein: ENSMUSP00000037657 Gene: ENSMUSG00000034422
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
low complexity region
|
93 |
115 |
N/A |
INTRINSIC |
RRM
|
228 |
297 |
4.71e-2 |
SMART |
coiled coil region
|
443 |
468 |
N/A |
INTRINSIC |
Blast:A1pp
|
693 |
746 |
6e-6 |
BLAST |
low complexity region
|
771 |
795 |
N/A |
INTRINSIC |
A1pp
|
814 |
948 |
7.62e-41 |
SMART |
A1pp
|
1026 |
1160 |
5.88e-24 |
SMART |
A1pp
|
1239 |
1358 |
6.82e-20 |
SMART |
PDB:1X4R|A
|
1532 |
1619 |
9e-53 |
PDB |
Pfam:PARP
|
1632 |
1817 |
2.5e-29 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
99% (70/71) |
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 (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [provided by RefSeq, Jul 2016] PHENOTYPE: Mice homozygous for a gene trap allele exhibit altered B cell subsets and inability to respond to the apoptosis protective affects of IL4. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
4930550C14Rik |
A |
G |
9: 53,332,917 (GRCm39) |
I93V |
probably benign |
Het |
Abcg5 |
A |
C |
17: 84,989,477 (GRCm39) |
I77S |
possibly damaging |
Het |
Adam3 |
T |
C |
8: 25,171,545 (GRCm39) |
Y762C |
probably benign |
Het |
Agap1 |
T |
C |
1: 89,716,962 (GRCm39) |
S26P |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,347,426 (GRCm39) |
Y441C |
probably damaging |
Het |
B3gnt3 |
A |
G |
8: 72,146,481 (GRCm39) |
L16S |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,982,002 (GRCm39) |
D1677E |
probably damaging |
Het |
Cd5l |
T |
A |
3: 87,268,206 (GRCm39) |
S18T |
probably benign |
Het |
Cdca2 |
T |
A |
14: 67,931,131 (GRCm39) |
R521W |
probably damaging |
Het |
Cfap61 |
C |
A |
2: 145,792,981 (GRCm39) |
S64* |
probably null |
Het |
Cryzl2 |
T |
A |
1: 157,298,174 (GRCm39) |
|
probably benign |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Dhrs1 |
T |
C |
14: 55,981,162 (GRCm39) |
K83E |
probably benign |
Het |
Dmrt2 |
T |
A |
19: 25,655,980 (GRCm39) |
F526L |
probably benign |
Het |
Dnajb14 |
T |
A |
3: 137,614,115 (GRCm39) |
M342K |
possibly damaging |
Het |
Dpf3 |
A |
G |
12: 83,378,761 (GRCm39) |
V101A |
probably benign |
Het |
Dthd1 |
A |
C |
5: 62,979,302 (GRCm39) |
T321P |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Fras1 |
G |
A |
5: 96,856,530 (GRCm39) |
R1971Q |
probably benign |
Het |
Fry |
A |
G |
5: 150,419,754 (GRCm39) |
N608S |
probably damaging |
Het |
Gabrr3 |
T |
A |
16: 59,281,998 (GRCm39) |
V451D |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,924,235 (GRCm39) |
L251P |
probably benign |
Het |
Gli2 |
T |
A |
1: 118,781,080 (GRCm39) |
S222C |
probably damaging |
Het |
Gsr |
A |
G |
8: 34,159,949 (GRCm39) |
E99G |
probably damaging |
Het |
H1f5 |
T |
C |
13: 21,964,451 (GRCm39) |
T92A |
possibly damaging |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Hus1b |
T |
C |
13: 31,131,679 (GRCm39) |
|
probably benign |
Het |
Igf1r |
T |
A |
7: 67,844,774 (GRCm39) |
I849N |
possibly damaging |
Het |
Itih5 |
A |
G |
2: 10,256,323 (GRCm39) |
T930A |
probably benign |
Het |
Ivns1abp |
T |
A |
1: 151,235,860 (GRCm39) |
M309K |
probably benign |
Het |
Kdm3b |
T |
A |
18: 34,952,864 (GRCm39) |
F1078Y |
probably damaging |
Het |
Krt12 |
C |
A |
11: 99,312,792 (GRCm39) |
G84V |
unknown |
Het |
Krt40 |
T |
G |
11: 99,431,059 (GRCm39) |
E150A |
probably damaging |
Het |
Lcn11 |
G |
T |
2: 25,669,115 (GRCm39) |
|
probably benign |
Het |
Lcor |
G |
T |
19: 41,574,502 (GRCm39) |
G1086C |
probably damaging |
Het |
Liph |
A |
G |
16: 21,802,898 (GRCm39) |
I57T |
possibly damaging |
Het |
Lrrc46 |
C |
T |
11: 96,926,997 (GRCm39) |
V107M |
probably damaging |
Het |
Ltb4r1 |
T |
C |
14: 56,004,832 (GRCm39) |
I45T |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,841,554 (GRCm39) |
|
probably benign |
Het |
Mark3 |
C |
T |
12: 111,584,831 (GRCm39) |
|
probably benign |
Het |
Mug2 |
C |
T |
6: 122,036,014 (GRCm39) |
A642V |
probably benign |
Het |
Myh11 |
A |
G |
16: 14,019,991 (GRCm39) |
S1814P |
possibly damaging |
Het |
Ndst1 |
T |
A |
18: 60,830,218 (GRCm39) |
S631C |
probably damaging |
Het |
Nrbf2 |
A |
T |
10: 67,103,691 (GRCm39) |
D137E |
possibly damaging |
Het |
Or2ag16 |
A |
T |
7: 106,351,989 (GRCm39) |
M202K |
probably benign |
Het |
Or51l4 |
A |
G |
7: 103,404,183 (GRCm39) |
V203A |
probably benign |
Het |
Or6c208 |
T |
A |
10: 129,224,090 (GRCm39) |
M196K |
probably benign |
Het |
Parn |
A |
G |
16: 13,485,449 (GRCm39) |
Y16H |
probably damaging |
Het |
Prl3d1 |
C |
T |
13: 27,283,992 (GRCm39) |
T187I |
probably benign |
Het |
Ptgir |
G |
A |
7: 16,641,055 (GRCm39) |
|
probably null |
Het |
Rabgap1l |
C |
T |
1: 160,059,445 (GRCm39) |
|
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,368,055 (GRCm39) |
Y4697H |
probably benign |
Het |
Rps6ka4 |
T |
A |
19: 6,808,364 (GRCm39) |
I598F |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,684,855 (GRCm39) |
V3029M |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 24,003,920 (GRCm39) |
F335S |
probably damaging |
Het |
Spata6l |
T |
C |
19: 28,945,032 (GRCm39) |
M1V |
probably null |
Het |
Stau2 |
A |
T |
1: 16,510,585 (GRCm39) |
Y124* |
probably null |
Het |
Tbl3 |
A |
G |
17: 24,920,580 (GRCm39) |
I652T |
probably benign |
Het |
Trappc3 |
C |
T |
4: 126,166,759 (GRCm39) |
|
probably benign |
Het |
Trim60 |
A |
T |
8: 65,454,071 (GRCm39) |
F59L |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,648,453 (GRCm39) |
F4686S |
probably benign |
Het |
Vcan |
T |
C |
13: 89,840,529 (GRCm39) |
T1672A |
probably damaging |
Het |
Vmn1r215 |
T |
A |
13: 23,260,758 (GRCm39) |
I266N |
possibly damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,487 (GRCm39) |
V657E |
possibly damaging |
Het |
Wdr95 |
G |
T |
5: 149,529,802 (GRCm39) |
A548S |
probably benign |
Het |
Zfp12 |
A |
G |
5: 143,231,500 (GRCm39) |
Y609C |
probably damaging |
Het |
Znfx1 |
C |
A |
2: 166,897,560 (GRCm39) |
E455* |
probably null |
Het |
|
Other mutations in Parp14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00337:Parp14
|
APN |
16 |
35,661,445 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00497:Parp14
|
APN |
16 |
35,655,206 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00754:Parp14
|
APN |
16 |
35,659,741 (GRCm39) |
missense |
probably benign |
0.15 |
IGL00960:Parp14
|
APN |
16 |
35,661,589 (GRCm39) |
missense |
probably benign |
0.20 |
IGL01321:Parp14
|
APN |
16 |
35,676,929 (GRCm39) |
missense |
probably benign |
|
IGL01397:Parp14
|
APN |
16 |
35,679,098 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01591:Parp14
|
APN |
16 |
35,678,877 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01728:Parp14
|
APN |
16 |
35,677,805 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01734:Parp14
|
APN |
16 |
35,678,970 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02156:Parp14
|
APN |
16 |
35,678,967 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02951:Parp14
|
APN |
16 |
35,678,903 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03067:Parp14
|
APN |
16 |
35,676,878 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03135:Parp14
|
APN |
16 |
35,678,381 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03141:Parp14
|
APN |
16 |
35,659,663 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03146:Parp14
|
APN |
16 |
35,678,823 (GRCm39) |
nonsense |
probably null |
|
IGL03333:Parp14
|
APN |
16 |
35,661,800 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03391:Parp14
|
APN |
16 |
35,678,640 (GRCm39) |
missense |
probably benign |
|
thurston
|
UTSW |
16 |
35,664,785 (GRCm39) |
splice site |
probably benign |
|
PIT4585001:Parp14
|
UTSW |
16 |
35,678,975 (GRCm39) |
missense |
probably benign |
0.03 |
R0306:Parp14
|
UTSW |
16 |
35,676,944 (GRCm39) |
missense |
probably benign |
|
R0506:Parp14
|
UTSW |
16 |
35,661,779 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0586:Parp14
|
UTSW |
16 |
35,661,382 (GRCm39) |
missense |
probably benign |
0.00 |
R0606:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R0612:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R0699:Parp14
|
UTSW |
16 |
35,680,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R0786:Parp14
|
UTSW |
16 |
35,661,172 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0883:Parp14
|
UTSW |
16 |
35,678,888 (GRCm39) |
missense |
probably benign |
0.03 |
R0900:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1087:Parp14
|
UTSW |
16 |
35,678,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R1120:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1134:Parp14
|
UTSW |
16 |
35,655,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R1153:Parp14
|
UTSW |
16 |
35,678,041 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1159:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1160:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1237:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1238:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1239:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1423:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1511:Parp14
|
UTSW |
16 |
35,677,594 (GRCm39) |
missense |
probably benign |
0.00 |
R1518:Parp14
|
UTSW |
16 |
35,677,008 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1619:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1707:Parp14
|
UTSW |
16 |
35,678,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R1792:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1831:Parp14
|
UTSW |
16 |
35,678,958 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1840:Parp14
|
UTSW |
16 |
35,683,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1902:Parp14
|
UTSW |
16 |
35,673,888 (GRCm39) |
critical splice donor site |
probably null |
|
R1943:Parp14
|
UTSW |
16 |
35,656,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Parp14
|
UTSW |
16 |
35,678,671 (GRCm39) |
missense |
probably benign |
0.08 |
R2115:Parp14
|
UTSW |
16 |
35,678,904 (GRCm39) |
missense |
probably benign |
0.16 |
R2216:Parp14
|
UTSW |
16 |
35,677,575 (GRCm39) |
missense |
probably benign |
0.00 |
R2519:Parp14
|
UTSW |
16 |
35,678,573 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3851:Parp14
|
UTSW |
16 |
35,674,118 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4052:Parp14
|
UTSW |
16 |
35,678,771 (GRCm39) |
missense |
probably benign |
0.05 |
R4671:Parp14
|
UTSW |
16 |
35,678,691 (GRCm39) |
missense |
probably benign |
0.00 |
R4867:Parp14
|
UTSW |
16 |
35,677,697 (GRCm39) |
missense |
probably benign |
0.01 |
R4941:Parp14
|
UTSW |
16 |
35,666,403 (GRCm39) |
missense |
probably benign |
|
R4992:Parp14
|
UTSW |
16 |
35,661,512 (GRCm39) |
missense |
probably benign |
0.05 |
R5055:Parp14
|
UTSW |
16 |
35,664,733 (GRCm39) |
missense |
probably benign |
0.00 |
R5073:Parp14
|
UTSW |
16 |
35,655,077 (GRCm39) |
missense |
probably damaging |
0.99 |
R5170:Parp14
|
UTSW |
16 |
35,677,649 (GRCm39) |
missense |
probably benign |
0.21 |
R5422:Parp14
|
UTSW |
16 |
35,686,545 (GRCm39) |
missense |
probably benign |
0.01 |
R5543:Parp14
|
UTSW |
16 |
35,655,137 (GRCm39) |
missense |
probably benign |
0.00 |
R5549:Parp14
|
UTSW |
16 |
35,661,505 (GRCm39) |
missense |
probably benign |
0.00 |
R5553:Parp14
|
UTSW |
16 |
35,677,306 (GRCm39) |
missense |
probably benign |
0.01 |
R5691:Parp14
|
UTSW |
16 |
35,683,909 (GRCm39) |
missense |
probably benign |
0.12 |
R5774:Parp14
|
UTSW |
16 |
35,678,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R5855:Parp14
|
UTSW |
16 |
35,661,297 (GRCm39) |
nonsense |
probably null |
|
R5942:Parp14
|
UTSW |
16 |
35,659,737 (GRCm39) |
missense |
probably damaging |
0.98 |
R5990:Parp14
|
UTSW |
16 |
35,661,827 (GRCm39) |
missense |
probably benign |
0.14 |
R5991:Parp14
|
UTSW |
16 |
35,661,827 (GRCm39) |
missense |
probably benign |
0.14 |
R6018:Parp14
|
UTSW |
16 |
35,661,827 (GRCm39) |
missense |
probably benign |
0.14 |
R6022:Parp14
|
UTSW |
16 |
35,661,827 (GRCm39) |
missense |
probably benign |
0.14 |
R6075:Parp14
|
UTSW |
16 |
35,677,389 (GRCm39) |
missense |
probably damaging |
0.99 |
R6395:Parp14
|
UTSW |
16 |
35,676,918 (GRCm39) |
missense |
probably benign |
0.00 |
R6525:Parp14
|
UTSW |
16 |
35,680,811 (GRCm39) |
missense |
probably benign |
0.05 |
R6683:Parp14
|
UTSW |
16 |
35,655,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R7525:Parp14
|
UTSW |
16 |
35,677,861 (GRCm39) |
missense |
probably benign |
0.00 |
R8011:Parp14
|
UTSW |
16 |
35,677,004 (GRCm39) |
missense |
probably benign |
0.00 |
R8192:Parp14
|
UTSW |
16 |
35,691,584 (GRCm39) |
missense |
probably benign |
0.01 |
R8367:Parp14
|
UTSW |
16 |
35,678,124 (GRCm39) |
missense |
probably benign |
0.36 |
R8526:Parp14
|
UTSW |
16 |
35,661,307 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8751:Parp14
|
UTSW |
16 |
35,677,181 (GRCm39) |
missense |
probably benign |
0.32 |
R8962:Parp14
|
UTSW |
16 |
35,677,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Parp14
|
UTSW |
16 |
35,661,583 (GRCm39) |
missense |
probably damaging |
0.98 |
R9363:Parp14
|
UTSW |
16 |
35,678,586 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9366:Parp14
|
UTSW |
16 |
35,659,630 (GRCm39) |
critical splice donor site |
probably null |
|
R9379:Parp14
|
UTSW |
16 |
35,680,853 (GRCm39) |
missense |
probably benign |
0.08 |
R9562:Parp14
|
UTSW |
16 |
35,677,775 (GRCm39) |
missense |
probably benign |
0.16 |
R9565:Parp14
|
UTSW |
16 |
35,677,775 (GRCm39) |
missense |
probably benign |
0.16 |
R9696:Parp14
|
UTSW |
16 |
35,661,252 (GRCm39) |
missense |
probably damaging |
0.96 |
R9696:Parp14
|
UTSW |
16 |
35,661,251 (GRCm39) |
missense |
possibly damaging |
0.67 |
X0026:Parp14
|
UTSW |
16 |
35,677,527 (GRCm39) |
nonsense |
probably null |
|
X0060:Parp14
|
UTSW |
16 |
35,655,077 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Parp14
|
UTSW |
16 |
35,661,956 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Parp14
|
UTSW |
16 |
35,665,708 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Parp14
|
UTSW |
16 |
35,691,573 (GRCm39) |
missense |
probably benign |
0.16 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCCAATAGCTGGTAGGCAAATG -3'
(R):5'- CCAAAGCAATTTTGGAAGGTGCAGG -3'
Sequencing Primer
(F):5'- GCAAATGGATGAGTAATTCCGTTG -3'
(R):5'- CTCTCTTGGGTAAGGAACAATGC -3'
|
Posted On |
2014-01-05 |