Incidental Mutation 'IGL02000:Parp6'
| ID |
183011 |
| 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 # |
IGL02000
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
59524567-59557568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59556175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 542
(M542V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026267
(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: M542V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: M542V
| 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 |
unknown
Transcript: ENSMUST00000050483
AA Change: M522V
|
| SMART Domains |
Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: M522V
| 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 |
unknown
Transcript: ENSMUST00000214956
AA Change: M45V
|
| Predicted Effect |
silent
Transcript: ENSMUST00000216351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217284
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid5a |
T |
C |
1: 36,358,578 (GRCm39) |
F450S |
probably damaging |
Het |
| Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,919,398 (GRCm39) |
P568L |
probably benign |
Het |
| Cdkl4 |
T |
C |
17: 80,851,192 (GRCm39) |
E170G |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,074,413 (GRCm39) |
E240G |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,121,190 (GRCm39) |
T741A |
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,015,845 (GRCm39) |
V427A |
probably benign |
Het |
| Ewsr1 |
T |
C |
11: 5,038,077 (GRCm39) |
D105G |
probably damaging |
Het |
| Ftsj3 |
C |
T |
11: 106,141,233 (GRCm39) |
R629Q |
probably benign |
Het |
| Gm10406 |
C |
T |
14: 18,341,703 (GRCm39) |
G181E |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,390,376 (GRCm39) |
H185R |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,116,179 (GRCm39) |
C1001S |
probably damaging |
Het |
| Mcidas |
T |
C |
13: 113,133,974 (GRCm39) |
S153P |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,661,185 (GRCm39) |
E931G |
probably benign |
Het |
| Myo10 |
C |
T |
15: 25,808,152 (GRCm39) |
R1925C |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,341,716 (GRCm39) |
V2012A |
probably damaging |
Het |
| Or6c76 |
C |
A |
10: 129,611,938 (GRCm39) |
H67N |
probably benign |
Het |
| Rab27a |
G |
A |
9: 72,992,254 (GRCm39) |
G94D |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,296,034 (GRCm39) |
|
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,622,933 (GRCm39) |
E26G |
probably benign |
Het |
| Rnf166 |
C |
T |
8: 123,193,961 (GRCm39) |
D221N |
probably damaging |
Het |
| Rptn |
G |
T |
3: 93,303,735 (GRCm39) |
G356V |
probably benign |
Het |
| Rwdd2b |
T |
A |
16: 87,233,828 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,460,900 (GRCm39) |
S337T |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,302,835 (GRCm39) |
D678V |
probably damaging |
Het |
| Sidt1 |
A |
T |
16: 44,106,732 (GRCm39) |
F233I |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,671,864 (GRCm39) |
D917G |
probably damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,803,270 (GRCm39) |
I35F |
possibly damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,751 (GRCm39) |
T141S |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,352 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,062,419 (GRCm39) |
A4247V |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,330,898 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
T |
9: 122,885,531 (GRCm39) |
I358F |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,203 (GRCm39) |
S222P |
probably damaging |
Het |
| Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
| Ube2l6 |
T |
C |
2: 84,639,506 (GRCm39) |
|
probably benign |
Het |
| Usp10 |
T |
A |
8: 120,675,480 (GRCm39) |
Y63N |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,912,915 (GRCm39) |
I283V |
possibly damaging |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,270 (GRCm39) |
V255I |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,246,003 (GRCm39) |
R1038G |
probably damaging |
Het |
| Ybx1 |
T |
A |
4: 119,139,509 (GRCm39) |
N50I |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,917,683 (GRCm39) |
K188E |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation