Incidental Mutation 'IGL02315:Parp6'
| ID |
288019 |
| 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: 0.512)
|
| Stock # |
IGL02315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
59524567-59557568 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 59549021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148866
(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
|
| SMART Domains |
Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
| 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
|
| SMART Domains |
Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
| 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
|
| SMART Domains |
Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216482
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,185 (GRCm39) |
I162F |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,524,475 (GRCm39) |
D607G |
probably benign |
Het |
| Ap2b1 |
G |
A |
11: 83,227,625 (GRCm39) |
V327I |
probably damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,563,290 (GRCm39) |
V218A |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,668,177 (GRCm39) |
D421V |
probably benign |
Het |
| Ctsm |
A |
G |
13: 61,687,462 (GRCm39) |
V100A |
probably benign |
Het |
| Cwf19l2 |
C |
T |
9: 3,410,030 (GRCm39) |
T53I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,237,746 (GRCm39) |
C3663R |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,062,469 (GRCm39) |
H19L |
probably benign |
Het |
| Ghitm |
A |
T |
14: 36,853,521 (GRCm39) |
N106K |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,006,983 (GRCm39) |
F1194L |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,955,386 (GRCm39) |
|
probably benign |
Het |
| Ighv1-67 |
C |
T |
12: 115,567,687 (GRCm39) |
G56D |
probably benign |
Het |
| Ikzf4 |
A |
G |
10: 128,470,014 (GRCm39) |
F502S |
probably damaging |
Het |
| Lrrc24 |
A |
T |
15: 76,602,506 (GRCm39) |
F126L |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,218,904 (GRCm39) |
R355Q |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,817,126 (GRCm39) |
V65E |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,191,291 (GRCm39) |
E850G |
probably damaging |
Het |
| Myh9 |
C |
A |
15: 77,654,173 (GRCm39) |
V1211L |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,297,744 (GRCm39) |
D764V |
probably damaging |
Het |
| Or8d2b |
G |
A |
9: 38,789,353 (GRCm39) |
V294I |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,566,620 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,624,498 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
A |
G |
9: 96,721,196 (GRCm39) |
L56P |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,050,816 (GRCm39) |
|
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,254,849 (GRCm39) |
S210P |
possibly damaging |
Het |
| Slit2 |
C |
T |
5: 48,145,213 (GRCm39) |
T71M |
probably damaging |
Het |
| Spem2 |
A |
T |
11: 69,708,191 (GRCm39) |
L258Q |
probably damaging |
Het |
| Stxbp2 |
C |
T |
8: 3,685,607 (GRCm39) |
|
probably benign |
Het |
| Vit |
G |
A |
17: 78,930,087 (GRCm39) |
V351I |
possibly damaging |
Het |
| Zwilch |
A |
G |
9: 64,057,549 (GRCm39) |
S285P |
probably damaging |
Het |
| Zzef1 |
A |
T |
11: 72,766,083 (GRCm39) |
R1537* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation