Incidental Mutation 'IGL02719:Parp6'
ID |
304887 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Parp6
|
Ensembl Gene |
ENSMUSG00000025237 |
Gene Name |
poly (ADP-ribose) polymerase family, member 6 |
Synonyms |
2310028P13Rik, 3110038K10Rik, C030013N01Rik, 1700119G14Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.576)
|
Stock # |
IGL02719
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
59524567-59557568 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59538021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 222
(V222E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026267]
[ENSMUST00000050483]
[ENSMUST00000167091]
[ENSMUST00000216351]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026267
AA Change: V222E
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000026267 Gene: ENSMUSG00000025237 AA Change: V222E
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
Pfam:PARP
|
450 |
580 |
5.6e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050483
AA Change: V222E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000063065 Gene: ENSMUSG00000025237 AA Change: V222E
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
low complexity region
|
303 |
315 |
N/A |
INTRINSIC |
SCOP:d1a26_2
|
409 |
475 |
4e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167091
AA Change: V222E
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000129456 Gene: ENSMUSG00000025237 AA Change: V222E
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
SCOP:d1a26_2
|
429 |
473 |
4e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213419
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216351
AA Change: V222E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216385
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216482
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217195
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
G |
5: 3,632,150 (GRCm39) |
D160G |
probably damaging |
Het |
Aak1 |
A |
G |
6: 86,936,152 (GRCm39) |
|
probably benign |
Het |
Anp32e |
A |
G |
3: 95,845,224 (GRCm39) |
|
probably benign |
Het |
Aspscr1 |
T |
A |
11: 120,568,405 (GRCm39) |
L61Q |
probably damaging |
Het |
Btrc |
A |
G |
19: 45,491,589 (GRCm39) |
I89M |
probably damaging |
Het |
Ccdc175 |
G |
A |
12: 72,221,899 (GRCm39) |
T141M |
probably damaging |
Het |
Cep70 |
G |
A |
9: 99,157,775 (GRCm39) |
V225I |
probably damaging |
Het |
Cilk1 |
A |
G |
9: 78,047,301 (GRCm39) |
E67G |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,281,950 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
T |
C |
2: 155,920,137 (GRCm39) |
Y214C |
probably damaging |
Het |
Crtc3 |
T |
C |
7: 80,268,406 (GRCm39) |
|
probably null |
Het |
Cul2 |
C |
T |
18: 3,434,052 (GRCm39) |
A683V |
probably damaging |
Het |
Ddx47 |
A |
G |
6: 134,994,114 (GRCm39) |
N131D |
probably benign |
Het |
Dnah7b |
T |
G |
1: 46,138,768 (GRCm39) |
|
probably benign |
Het |
Dnai2 |
T |
C |
11: 114,642,737 (GRCm39) |
L446P |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,106,317 (GRCm39) |
T58A |
possibly damaging |
Het |
Erlin2 |
A |
G |
8: 27,519,703 (GRCm39) |
|
probably benign |
Het |
Fermt2 |
T |
C |
14: 45,742,113 (GRCm39) |
T78A |
probably damaging |
Het |
Flg2 |
G |
T |
3: 93,127,438 (GRCm39) |
G97* |
probably null |
Het |
Gm7356 |
A |
G |
17: 14,221,537 (GRCm39) |
I164T |
probably damaging |
Het |
Gucy1a2 |
T |
A |
9: 3,894,719 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
C |
T |
17: 79,122,969 (GRCm39) |
R670H |
probably damaging |
Het |
Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
Itpkc |
A |
T |
7: 26,927,475 (GRCm39) |
D146E |
possibly damaging |
Het |
Kcnk3 |
T |
C |
5: 30,779,324 (GRCm39) |
F125L |
probably damaging |
Het |
Kif12 |
T |
A |
4: 63,086,033 (GRCm39) |
M411L |
probably benign |
Het |
Krtap24-1 |
T |
C |
16: 88,409,094 (GRCm39) |
S11G |
probably benign |
Het |
Lilra6 |
A |
T |
7: 3,915,991 (GRCm39) |
H289Q |
possibly damaging |
Het |
Musk |
A |
C |
4: 58,356,496 (GRCm39) |
N469H |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,413,349 (GRCm39) |
|
probably benign |
Het |
Nagpa |
A |
G |
16: 5,019,357 (GRCm39) |
V46A |
possibly damaging |
Het |
Or4k37 |
T |
A |
2: 111,159,590 (GRCm39) |
Y275* |
probably null |
Het |
Or5h25 |
T |
A |
16: 58,930,536 (GRCm39) |
T146S |
probably benign |
Het |
Or8g17 |
T |
C |
9: 38,930,312 (GRCm39) |
N175S |
probably benign |
Het |
Pde3b |
T |
A |
7: 114,105,483 (GRCm39) |
S472T |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,134,490 (GRCm39) |
S1314P |
probably damaging |
Het |
Pgc |
A |
G |
17: 48,039,792 (GRCm39) |
Y62C |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,278,665 (GRCm39) |
C189R |
probably damaging |
Het |
Pla2g15 |
G |
T |
8: 106,886,828 (GRCm39) |
Q106H |
probably benign |
Het |
Pla2g4c |
T |
A |
7: 13,064,019 (GRCm39) |
S93T |
probably damaging |
Het |
Rbks |
G |
T |
5: 31,809,145 (GRCm39) |
|
probably benign |
Het |
Retsat |
A |
G |
6: 72,580,642 (GRCm39) |
T207A |
possibly damaging |
Het |
Slc25a32 |
A |
G |
15: 38,963,300 (GRCm39) |
Y174H |
probably benign |
Het |
Slc35f2 |
T |
A |
9: 53,717,026 (GRCm39) |
|
probably benign |
Het |
Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
Sos2 |
A |
G |
12: 69,663,958 (GRCm39) |
Y476H |
probably benign |
Het |
Ssh2 |
A |
T |
11: 77,316,413 (GRCm39) |
N296I |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,459,601 (GRCm39) |
R3320L |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,047,192 (GRCm39) |
I166V |
probably benign |
Het |
Tpp2 |
T |
C |
1: 43,979,391 (GRCm39) |
V96A |
probably benign |
Het |
Vmn2r3 |
A |
T |
3: 64,183,031 (GRCm39) |
W223R |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,146,089 (GRCm39) |
|
probably null |
Het |
Zfr2 |
T |
A |
10: 81,080,546 (GRCm39) |
C407S |
probably damaging |
Het |
|
Other mutations in Parp6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00961:Parp6
|
APN |
9 |
59,540,242 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01366:Parp6
|
APN |
9 |
59,543,996 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01385:Parp6
|
APN |
9 |
59,537,895 (GRCm39) |
splice site |
probably benign |
|
IGL02000:Parp6
|
APN |
9 |
59,556,175 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02001:Parp6
|
APN |
9 |
59,557,244 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02315:Parp6
|
APN |
9 |
59,549,021 (GRCm39) |
intron |
probably benign |
|
IGL02928:Parp6
|
APN |
9 |
59,548,346 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL03169:Parp6
|
APN |
9 |
59,557,300 (GRCm39) |
nonsense |
probably null |
|
IGL03398:Parp6
|
APN |
9 |
59,548,336 (GRCm39) |
missense |
probably damaging |
0.97 |
R0165:Parp6
|
UTSW |
9 |
59,540,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R0602:Parp6
|
UTSW |
9 |
59,556,648 (GRCm39) |
splice site |
probably benign |
|
R0781:Parp6
|
UTSW |
9 |
59,556,847 (GRCm39) |
missense |
probably damaging |
0.99 |
R1110:Parp6
|
UTSW |
9 |
59,556,847 (GRCm39) |
missense |
probably damaging |
0.99 |
R1730:Parp6
|
UTSW |
9 |
59,540,821 (GRCm39) |
nonsense |
probably null |
|
R1783:Parp6
|
UTSW |
9 |
59,540,821 (GRCm39) |
nonsense |
probably null |
|
R2264:Parp6
|
UTSW |
9 |
59,531,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R4323:Parp6
|
UTSW |
9 |
59,537,969 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4654:Parp6
|
UTSW |
9 |
59,548,383 (GRCm39) |
splice site |
probably null |
|
R4672:Parp6
|
UTSW |
9 |
59,547,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R4673:Parp6
|
UTSW |
9 |
59,547,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R4708:Parp6
|
UTSW |
9 |
59,549,052 (GRCm39) |
missense |
probably damaging |
0.98 |
R4709:Parp6
|
UTSW |
9 |
59,549,052 (GRCm39) |
missense |
probably damaging |
0.98 |
R4763:Parp6
|
UTSW |
9 |
59,538,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R4782:Parp6
|
UTSW |
9 |
59,542,267 (GRCm39) |
splice site |
probably null |
|
R4825:Parp6
|
UTSW |
9 |
59,531,645 (GRCm39) |
splice site |
probably null |
|
R5563:Parp6
|
UTSW |
9 |
59,535,956 (GRCm39) |
splice site |
probably null |
|
R5700:Parp6
|
UTSW |
9 |
59,532,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R6235:Parp6
|
UTSW |
9 |
59,538,098 (GRCm39) |
missense |
probably benign |
0.34 |
R6269:Parp6
|
UTSW |
9 |
59,557,295 (GRCm39) |
missense |
probably benign |
|
R6383:Parp6
|
UTSW |
9 |
59,531,222 (GRCm39) |
missense |
probably damaging |
0.99 |
R9170:Parp6
|
UTSW |
9 |
59,531,213 (GRCm39) |
missense |
|
|
X0061:Parp6
|
UTSW |
9 |
59,538,048 (GRCm39) |
missense |
probably benign |
0.25 |
|
Posted On |
2015-04-16 |