Incidental Mutation 'R6395:Parp14'
ID |
514752 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.493)
|
Stock # |
R6395 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
35653244-35691914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35676918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 1017
(S1017G)
|
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
AA Change: S1017G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000037657 Gene: ENSMUSG00000034422 AA Change: S1017G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142946
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.3%
|
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 (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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actc1 |
C |
A |
2: 113,879,731 (GRCm39) |
E243* |
probably null |
Het |
Ahi1 |
T |
C |
10: 20,855,491 (GRCm39) |
I600T |
possibly damaging |
Het |
Apob |
A |
G |
12: 8,058,507 (GRCm39) |
T2330A |
probably benign |
Het |
Cabin1 |
A |
T |
10: 75,582,576 (GRCm39) |
M280K |
probably benign |
Het |
Ccdc117 |
T |
C |
11: 5,484,762 (GRCm39) |
|
probably null |
Het |
Cct8 |
G |
T |
16: 87,283,364 (GRCm39) |
Y292* |
probably null |
Het |
Celf1 |
A |
G |
2: 90,834,203 (GRCm39) |
I165V |
probably benign |
Het |
Cenpc1 |
A |
T |
5: 86,183,429 (GRCm39) |
N453K |
probably benign |
Het |
Chst10 |
T |
C |
1: 38,910,770 (GRCm39) |
I131M |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,616,006 (GRCm39) |
I420T |
probably damaging |
Het |
Cspg4b |
T |
G |
13: 113,506,003 (GRCm39) |
C2377W |
probably damaging |
Het |
Dact3 |
A |
C |
7: 16,617,086 (GRCm39) |
Q95P |
probably damaging |
Het |
Dennd2c |
T |
C |
3: 103,056,540 (GRCm39) |
|
probably null |
Het |
Dock2 |
G |
T |
11: 34,182,874 (GRCm39) |
H1586Q |
probably damaging |
Het |
Dst |
T |
C |
1: 34,221,771 (GRCm39) |
M2525T |
probably benign |
Het |
Egflam |
T |
C |
15: 7,261,176 (GRCm39) |
H786R |
probably damaging |
Het |
Eml6 |
T |
C |
11: 29,759,321 (GRCm39) |
T811A |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,343,106 (GRCm39) |
T148A |
probably damaging |
Het |
Fsip1 |
A |
C |
2: 118,067,406 (GRCm39) |
S306A |
probably damaging |
Het |
Gga2 |
A |
T |
7: 121,607,661 (GRCm39) |
|
probably null |
Het |
Gm10801 |
C |
CGTT |
2: 98,494,152 (GRCm39) |
|
probably benign |
Het |
Gm9837 |
T |
A |
11: 53,360,885 (GRCm39) |
|
probably benign |
Het |
Gnl2 |
A |
T |
4: 124,940,058 (GRCm39) |
Q310L |
probably damaging |
Het |
H2-M1 |
T |
C |
17: 36,982,701 (GRCm39) |
D53G |
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,259,269 (GRCm39) |
D1036E |
probably damaging |
Het |
Htr3a |
A |
T |
9: 48,811,871 (GRCm39) |
D381E |
probably benign |
Het |
Igdcc4 |
G |
A |
9: 65,042,400 (GRCm39) |
G106R |
probably damaging |
Het |
Igfbp2 |
A |
G |
1: 72,864,078 (GRCm39) |
T114A |
probably damaging |
Het |
Ints14 |
A |
G |
9: 64,885,406 (GRCm39) |
|
probably null |
Het |
Kcnt1 |
T |
A |
2: 25,799,251 (GRCm39) |
M906K |
possibly damaging |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Lars2 |
A |
G |
9: 123,200,990 (GRCm39) |
Q18R |
probably benign |
Het |
Mndal |
C |
T |
1: 173,698,999 (GRCm39) |
C222Y |
possibly damaging |
Het |
Msto1 |
C |
T |
3: 88,812,781 (GRCm39) |
A1854V |
possibly damaging |
Het |
Musk |
G |
A |
4: 58,286,169 (GRCm39) |
G20R |
probably benign |
Het |
Or6c215 |
G |
T |
10: 129,638,013 (GRCm39) |
P127Q |
probably damaging |
Het |
Oxct1 |
G |
T |
15: 4,056,309 (GRCm39) |
S19I |
possibly damaging |
Het |
Papss2 |
G |
A |
19: 32,641,876 (GRCm39) |
G517D |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,150,242 (GRCm39) |
Q227R |
probably benign |
Het |
Pdlim5 |
G |
T |
3: 142,020,183 (GRCm39) |
P92Q |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,350,595 (GRCm39) |
T480I |
probably benign |
Het |
Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
Ppp3ca |
A |
G |
3: 136,583,531 (GRCm39) |
R213G |
possibly damaging |
Het |
Pramel18 |
G |
A |
4: 101,767,189 (GRCm39) |
R146H |
probably benign |
Het |
Prrc1 |
C |
T |
18: 57,495,619 (GRCm39) |
S32L |
probably null |
Het |
Prss47 |
C |
T |
13: 65,197,116 (GRCm39) |
V207I |
probably benign |
Het |
Prtg |
G |
A |
9: 72,819,414 (GRCm39) |
V1136I |
possibly damaging |
Het |
Psmb8 |
T |
A |
17: 34,418,265 (GRCm39) |
M69K |
possibly damaging |
Het |
Rb1 |
A |
T |
14: 73,436,636 (GRCm39) |
D876E |
probably damaging |
Het |
Rnasel |
T |
C |
1: 153,637,867 (GRCm39) |
M680T |
probably damaging |
Het |
Rnf111 |
G |
T |
9: 70,383,692 (GRCm39) |
N80K |
possibly damaging |
Het |
Senp1 |
C |
T |
15: 97,946,074 (GRCm39) |
C557Y |
probably damaging |
Het |
Serpina3a |
A |
T |
12: 104,082,710 (GRCm39) |
Y161F |
probably damaging |
Het |
Serpinb11 |
A |
T |
1: 107,299,781 (GRCm39) |
|
probably null |
Het |
Sgpl1 |
C |
A |
10: 60,947,936 (GRCm39) |
|
probably null |
Het |
Slc37a4 |
A |
G |
9: 44,310,576 (GRCm39) |
Y60C |
probably damaging |
Het |
Slc38a10 |
A |
G |
11: 120,015,208 (GRCm39) |
S381P |
probably benign |
Het |
Slc5a7 |
C |
T |
17: 54,585,849 (GRCm39) |
V323I |
probably damaging |
Het |
Slco1a7 |
T |
A |
6: 141,668,818 (GRCm39) |
|
probably null |
Het |
Smarcal1 |
A |
T |
1: 72,655,716 (GRCm39) |
E665V |
possibly damaging |
Het |
Specc1 |
C |
A |
11: 62,023,164 (GRCm39) |
N736K |
probably damaging |
Het |
Tas2r121 |
T |
C |
6: 132,677,495 (GRCm39) |
Y159C |
probably benign |
Het |
Tex54 |
A |
G |
19: 8,718,462 (GRCm39) |
D68G |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,196,268 (GRCm39) |
I1431V |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,047,414 (GRCm39) |
V671A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,748,931 (GRCm39) |
|
probably benign |
Het |
Uimc1 |
T |
C |
13: 55,188,389 (GRCm39) |
T557A |
possibly damaging |
Het |
Uri1 |
C |
A |
7: 37,661,974 (GRCm39) |
V446L |
probably benign |
Het |
Vpreb1b |
C |
T |
16: 17,798,771 (GRCm39) |
R86C |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,331,184 (GRCm39) |
K1231E |
probably benign |
Het |
Xcr1 |
G |
A |
9: 123,684,854 (GRCm39) |
R303C |
probably damaging |
Het |
Zfp619 |
C |
A |
7: 39,186,454 (GRCm39) |
A828E |
possibly damaging |
Het |
Zfp687 |
T |
C |
3: 94,915,049 (GRCm39) |
S1151G |
possibly damaging |
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 |
R1104:Parp14
|
UTSW |
16 |
35,664,785 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- AGTGGGTCAGCATGGAATTTTC -3'
(R):5'- TGGCAAACATTGTTTCAGCC -3'
Sequencing Primer
(F):5'- TGCTCTTCCAAAGGTCCAGAG -3'
(R):5'- TGTTTCAGCCATCAAGGAACACTTC -3'
|
Posted On |
2018-05-04 |