Incidental Mutation 'IGL01366:Parp6'
| ID |
75950 |
| 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 # |
IGL01366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
59524567-59557568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59543996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 390
(M390K)
|
| 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: M390K
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: M390K
| 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: M370K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: M370K
| 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 |
possibly damaging
Transcript: ENSMUST00000167091
AA Change: M390K
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237
AA Change: M390K
| 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 |
probably benign
Transcript: ENSMUST00000214956
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216351
AA Change: M370K
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216482
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,868,937 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,687,295 (GRCm39) |
Y1041H |
probably damaging |
Het |
| Adck5 |
A |
C |
15: 76,479,816 (GRCm39) |
*568C |
probably null |
Het |
| AK157302 |
T |
A |
13: 21,679,471 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
G |
T |
1: 59,852,836 (GRCm39) |
G56W |
probably damaging |
Het |
| Capn11 |
A |
C |
17: 45,964,126 (GRCm39) |
I146S |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,456,302 (GRCm39) |
D1613E |
possibly damaging |
Het |
| Ccdc167 |
T |
C |
17: 29,924,286 (GRCm39) |
E50G |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,431,048 (GRCm39) |
P864Q |
possibly damaging |
Het |
| Col7a1 |
C |
T |
9: 108,806,187 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
T |
A |
16: 3,944,370 (GRCm39) |
H556L |
probably damaging |
Het |
| Dcpp1 |
T |
A |
17: 24,101,710 (GRCm39) |
I153N |
possibly damaging |
Het |
| Dgke |
C |
T |
11: 88,946,212 (GRCm39) |
R196H |
probably benign |
Het |
| Efr3a |
T |
A |
15: 65,722,999 (GRCm39) |
I459K |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,228,271 (GRCm39) |
C1682S |
probably benign |
Het |
| Exosc3 |
C |
T |
4: 45,317,747 (GRCm39) |
R185H |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,879,338 (GRCm39) |
V64A |
possibly damaging |
Het |
| Fhip2b |
G |
A |
14: 70,822,813 (GRCm39) |
R688C |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,882,276 (GRCm39) |
L42P |
probably damaging |
Het |
| Ggta1 |
C |
A |
2: 35,292,462 (GRCm39) |
E282* |
probably null |
Het |
| Ghr |
T |
C |
15: 3,349,669 (GRCm39) |
D503G |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
| Gm2058 |
A |
G |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
| Grb7 |
T |
C |
11: 98,343,100 (GRCm39) |
|
probably benign |
Het |
| Ifngr1 |
A |
T |
10: 19,485,348 (GRCm39) |
H449L |
probably damaging |
Het |
| Ighg2b |
T |
G |
12: 113,270,656 (GRCm39) |
D158A |
possibly damaging |
Het |
| Nphs2 |
T |
C |
1: 156,138,605 (GRCm39) |
V83A |
probably benign |
Het |
| Pask |
T |
C |
1: 93,238,574 (GRCm39) |
K1304E |
probably benign |
Het |
| Scai |
A |
G |
2: 38,996,973 (GRCm39) |
S274P |
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,818,763 (GRCm39) |
S404P |
probably damaging |
Het |
| Slc7a8 |
A |
T |
14: 55,018,645 (GRCm39) |
I47N |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,760 (GRCm39) |
I263F |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,843,734 (GRCm39) |
D737E |
probably benign |
Het |
| Trio |
T |
C |
15: 27,732,954 (GRCm39) |
T2976A |
possibly damaging |
Het |
| Ttc28 |
T |
C |
5: 111,233,037 (GRCm39) |
|
probably null |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,799 (GRCm39) |
I215T |
probably benign |
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 |
|
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 |
|
|
IGL02719:Parp6
|
APN |
9 |
59,538,021 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
2013-10-07 |
Incidental Mutation