Incidental Mutation 'R4323:Parp6'
| ID |
323920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp6
|
| Ensembl Gene |
ENSMUSG00000025237 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 6 |
| Synonyms |
2310028P13Rik, 3110038K10Rik, C030013N01Rik, 1700119G14Rik |
| MMRRC Submission |
041094-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.576)
|
| Stock # |
R4323 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
59524567-59557568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59537969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 205
(V205I)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000026267
AA Change: V205I
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: V205I
| 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: V205I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: V205I
| 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: V205I
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237
AA Change: V205I
| 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: V205I
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217195
|
| Meta Mutation Damage Score |
0.1048 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
95% (59/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,548 (GRCm39) |
Y414C |
probably damaging |
Het |
| Akr1b1 |
T |
C |
6: 34,287,862 (GRCm39) |
T166A |
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,686 (GRCm39) |
S94L |
probably damaging |
Het |
| B4galt3 |
G |
T |
1: 171,103,515 (GRCm39) |
M68I |
possibly damaging |
Het |
| Bpnt1 |
A |
C |
1: 185,088,786 (GRCm39) |
H312P |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,027 (GRCm39) |
V724A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,946,831 (GRCm39) |
C1022F |
probably damaging |
Het |
| Cwf19l2 |
T |
G |
9: 3,430,452 (GRCm39) |
F261L |
probably damaging |
Het |
| Esr1 |
G |
A |
10: 4,951,307 (GRCm39) |
V562M |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,333,716 (GRCm39) |
H643R |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,648,232 (GRCm39) |
M769L |
probably benign |
Het |
| Fgfr1 |
A |
G |
8: 26,063,915 (GRCm39) |
N814S |
probably benign |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
C |
16: 84,619,744 (GRCm39) |
|
probably benign |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,746,603 (GRCm39) |
I14T |
probably benign |
Het |
| Mitf |
A |
G |
6: 97,968,910 (GRCm39) |
Y10C |
probably benign |
Het |
| Mpo |
T |
C |
11: 87,686,865 (GRCm39) |
S165P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,884,696 (GRCm39) |
S486P |
probably benign |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,767 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,802,608 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,118 (GRCm39) |
L218P |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,487,529 (GRCm39) |
I521T |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,735,270 (GRCm39) |
I618T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Sp8 |
A |
G |
12: 118,812,171 (GRCm39) |
I9V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,434,407 (GRCm39) |
M352L |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,349 (GRCm39) |
M66T |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,159 (GRCm39) |
N32K |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,879,348 (GRCm39) |
T1486S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,153 (GRCm39) |
N281S |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 108,025,938 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGAGCTCATAGTGAATTCCAAG -3'
(R):5'- TGGAAAGCTCTACCCCACTC -3'
Sequencing Primer
(F):5'- CAAGACAGGGTTTCTCTTTGTAGCC -3'
(R):5'- ACTCCACCCCTTTGAAAAGTTATC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation