Incidental Mutation 'R8751:Parp14'
ID |
663877 |
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 |
068594-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.493)
|
Stock # |
R8751 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
35653244-35691914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35677181 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 929
(M929K)
|
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: M929K
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000037657 Gene: ENSMUSG00000034422 AA Change: M929K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.2%
|
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 |
Adamts12 |
T |
A |
15: 11,215,813 (GRCm39) |
I278N |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,129,492 (GRCm39) |
W702R |
probably damaging |
Het |
Adgrf5 |
G |
A |
17: 43,748,574 (GRCm39) |
V468I |
possibly damaging |
Het |
Ahnak |
A |
C |
19: 8,987,509 (GRCm39) |
K2931T |
probably damaging |
Het |
Ank3 |
C |
T |
10: 69,761,849 (GRCm39) |
|
probably benign |
Het |
Birc6 |
G |
A |
17: 74,955,135 (GRCm39) |
V3480I |
probably damaging |
Het |
Bpifa5 |
A |
T |
2: 154,007,432 (GRCm39) |
I125L |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
Ccm2l |
A |
T |
2: 152,909,695 (GRCm39) |
I16F |
probably benign |
Het |
Cep72 |
G |
A |
13: 74,198,303 (GRCm39) |
S359F |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,838,100 (GRCm39) |
N844S |
unknown |
Het |
Col7a1 |
C |
T |
9: 108,796,730 (GRCm39) |
P1623S |
possibly damaging |
Het |
Crybg1 |
T |
C |
10: 43,880,838 (GRCm39) |
K117E |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,845,402 (GRCm39) |
C54R |
|
Het |
Dlg1 |
A |
G |
16: 31,600,648 (GRCm39) |
T211A |
probably benign |
Het |
Emc1 |
C |
A |
4: 139,097,279 (GRCm39) |
H724N |
possibly damaging |
Het |
Epg5 |
A |
C |
18: 78,008,223 (GRCm39) |
N784H |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,008,225 (GRCm39) |
N784K |
probably benign |
Het |
Epg5 |
A |
T |
18: 78,008,224 (GRCm39) |
N784I |
possibly damaging |
Het |
Erc2 |
A |
G |
14: 27,802,145 (GRCm39) |
E771G |
possibly damaging |
Het |
Exo1 |
T |
C |
1: 175,719,678 (GRCm39) |
V241A |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,946,002 (GRCm39) |
T1632A |
probably benign |
Het |
Fbxo21 |
T |
A |
5: 118,140,127 (GRCm39) |
M529K |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,646,134 (GRCm39) |
E276G |
probably benign |
Het |
Frem1 |
G |
A |
4: 82,889,015 (GRCm39) |
T1069I |
probably damaging |
Het |
Gapvd1 |
A |
C |
2: 34,568,078 (GRCm39) |
F1429V |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,229,117 (GRCm39) |
E510G |
possibly damaging |
Het |
Gm17087 |
A |
T |
17: 8,785,510 (GRCm39) |
H64Q |
probably damaging |
Het |
Gm19965 |
A |
T |
1: 116,749,867 (GRCm39) |
Y516F |
unknown |
Het |
Hdac5 |
A |
T |
11: 102,109,280 (GRCm39) |
I38N |
probably benign |
Het |
Hectd4 |
T |
A |
5: 121,501,838 (GRCm39) |
C4190* |
probably null |
Het |
Helb |
A |
T |
10: 119,925,412 (GRCm39) |
D988E |
probably benign |
Het |
Herc6 |
C |
T |
6: 57,639,359 (GRCm39) |
S909L |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,751,010 (GRCm39) |
V1692E |
probably damaging |
Het |
Ino80 |
A |
G |
2: 119,237,389 (GRCm39) |
Y1107H |
probably benign |
Het |
Kif9 |
A |
T |
9: 110,330,724 (GRCm39) |
Y350F |
probably benign |
Het |
Lct |
T |
A |
1: 128,221,534 (GRCm39) |
T1570S |
probably benign |
Het |
Lias |
T |
A |
5: 65,557,193 (GRCm39) |
N203K |
probably benign |
Het |
Lrrtm4 |
A |
G |
6: 79,999,092 (GRCm39) |
N168S |
probably damaging |
Het |
Ltf |
A |
T |
9: 110,860,192 (GRCm39) |
K538* |
probably null |
Het |
Lysmd4 |
A |
G |
7: 66,875,787 (GRCm39) |
D150G |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,739,462 (GRCm39) |
D572G |
probably benign |
Het |
Meiob |
T |
C |
17: 25,047,008 (GRCm39) |
|
probably null |
Het |
Ncor2 |
T |
C |
5: 125,115,964 (GRCm39) |
Y130C |
|
Het |
Ntmt2 |
T |
A |
1: 163,544,738 (GRCm39) |
T82S |
probably benign |
Het |
Ofcc1 |
A |
G |
13: 40,409,072 (GRCm39) |
S118P |
probably benign |
Het |
Or10g3 |
A |
G |
14: 52,610,420 (GRCm39) |
F30S |
probably benign |
Het |
Or2t45 |
A |
G |
11: 58,669,213 (GRCm39) |
T87A |
probably benign |
Het |
Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
Pcdh8 |
T |
C |
14: 80,006,229 (GRCm39) |
E778G |
probably benign |
Het |
Pgls |
T |
C |
8: 72,047,838 (GRCm39) |
V211A |
probably benign |
Het |
Pkd2 |
T |
A |
5: 104,637,151 (GRCm39) |
M588K |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,231,269 (GRCm39) |
N860S |
probably benign |
Het |
Psg19 |
C |
T |
7: 18,530,888 (GRCm39) |
V89M |
probably benign |
Het |
Reln |
T |
C |
5: 22,147,672 (GRCm39) |
H2426R |
probably benign |
Het |
Ripor2 |
T |
A |
13: 24,885,050 (GRCm39) |
N428K |
possibly damaging |
Het |
Slc12a4 |
C |
T |
8: 106,676,285 (GRCm39) |
|
probably null |
Het |
Slc25a3 |
T |
C |
10: 90,952,960 (GRCm39) |
I314V |
probably benign |
Het |
Slc29a1 |
C |
A |
17: 45,900,688 (GRCm39) |
V125F |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 106,085,981 (GRCm39) |
C583S |
probably damaging |
Het |
Slco2b1 |
G |
A |
7: 99,309,259 (GRCm39) |
Q691* |
probably null |
Het |
Smg7 |
T |
C |
1: 152,719,129 (GRCm39) |
D874G |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,729,723 (GRCm39) |
K132* |
probably null |
Het |
Tap1 |
A |
G |
17: 34,412,133 (GRCm39) |
K446R |
probably benign |
Het |
Tcam1 |
A |
T |
11: 106,176,443 (GRCm39) |
T390S |
possibly damaging |
Het |
Tnik |
A |
G |
3: 28,666,057 (GRCm39) |
N687D |
probably damaging |
Het |
Trim42 |
T |
C |
9: 97,251,852 (GRCm39) |
R16G |
possibly damaging |
Het |
Vcp |
A |
C |
4: 42,984,658 (GRCm39) |
L411W |
probably damaging |
Het |
Vma21-ps |
C |
A |
4: 52,496,973 (GRCm39) |
G91V |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
Vmn2r67 |
C |
T |
7: 84,801,450 (GRCm39) |
C162Y |
probably benign |
Het |
Vmn2r-ps117 |
A |
G |
17: 19,044,021 (GRCm39) |
T366A |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,066,190 (GRCm39) |
K54E |
probably 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 |
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 |
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 |
35,691,573 (GRCm39) |
missense |
probably benign |
0.16 |
Z1177:Parp14
|
UTSW |
16 |
35,665,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTTGACAGCTTCAGCAAAG -3'
(R):5'- TGGCCCTGAACTCCAAACAG -3'
Sequencing Primer
(F):5'- AGCTTCAGCAAAGGCCCTG -3'
(R):5'- TCCAAACAGAATGTGACCAGATAG -3'
|
Posted On |
2021-03-08 |