Incidental Mutation 'R5700:Parp6'
| ID |
450853 |
| 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 |
043328-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.576)
|
| Stock # |
R5700 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
59524567-59557568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59532010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 101
(S101P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026267]
[ENSMUST00000050483]
[ENSMUST00000167091]
[ENSMUST00000216351]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026267
AA Change: S101P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: S101P
| 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 damaging
Transcript: ENSMUST00000050483
AA Change: S101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: S101P
| 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 damaging
Transcript: ENSMUST00000167091
AA Change: S101P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237
AA Change: S101P
| 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 |
noncoding transcript
Transcript: ENSMUST00000214984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215381
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216351
AA Change: S101P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216385
|
| Meta Mutation Damage Score |
0.4119 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,786,633 (GRCm39) |
Q155L |
probably benign |
Het |
| Acadvl |
A |
C |
11: 69,904,029 (GRCm39) |
Y242D |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Barx2 |
A |
T |
9: 31,770,061 (GRCm39) |
F156I |
probably damaging |
Het |
| Best1 |
T |
C |
19: 9,974,563 (GRCm39) |
|
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,651,514 (GRCm39) |
S136P |
possibly damaging |
Het |
| Btla |
T |
A |
16: 45,070,936 (GRCm39) |
Y298* |
probably null |
Het |
| Casr |
T |
A |
16: 36,329,979 (GRCm39) |
I452F |
probably damaging |
Het |
| Ccser1 |
C |
A |
6: 61,288,260 (GRCm39) |
P141H |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,842,065 (GRCm39) |
V296A |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,877 (GRCm39) |
I63F |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,313,952 (GRCm39) |
V40M |
probably damaging |
Het |
| Fam53b |
A |
T |
7: 132,361,749 (GRCm39) |
L93Q |
probably damaging |
Het |
| Fdps |
T |
C |
3: 89,002,956 (GRCm39) |
I105V |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,643 (GRCm39) |
D204G |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,808,003 (GRCm39) |
|
probably benign |
Het |
| Gm7367 |
A |
T |
7: 59,805,510 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
T |
A |
6: 64,071,416 (GRCm39) |
V413D |
possibly damaging |
Het |
| Hgf |
C |
T |
5: 16,815,122 (GRCm39) |
P471L |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Hs6st3 |
C |
T |
14: 119,376,199 (GRCm39) |
R125* |
probably null |
Het |
| Kdm4b |
T |
C |
17: 56,658,700 (GRCm39) |
I15T |
possibly damaging |
Het |
| Klhl1 |
T |
C |
14: 96,755,476 (GRCm39) |
N93S |
probably benign |
Het |
| Klhl6 |
G |
A |
16: 19,775,968 (GRCm39) |
Q197* |
probably null |
Het |
| Medag |
T |
C |
5: 149,345,682 (GRCm39) |
V7A |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Nckap5 |
C |
T |
1: 125,904,662 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,024,020 (GRCm39) |
K550R |
probably benign |
Het |
| Or2d36 |
A |
G |
7: 106,746,748 (GRCm39) |
N75S |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,171 (GRCm39) |
V103E |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,356 (GRCm39) |
I206F |
probably damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,318 (GRCm39) |
I93T |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,964,589 (GRCm39) |
N594S |
probably benign |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Ppp2r1b |
T |
C |
9: 50,789,457 (GRCm39) |
Y443H |
probably damaging |
Het |
| Prnd |
G |
A |
2: 131,795,263 (GRCm39) |
V128I |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,309,697 (GRCm39) |
P156Q |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,374,143 (GRCm39) |
V445A |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,083,291 (GRCm39) |
M41K |
probably damaging |
Het |
| Slc66a1 |
C |
T |
4: 139,027,565 (GRCm39) |
S259N |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,971,641 (GRCm39) |
V303A |
possibly damaging |
Het |
| Ston1 |
T |
A |
17: 88,951,767 (GRCm39) |
S639R |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,913,461 (GRCm39) |
D153G |
probably benign |
Het |
| Timm44 |
T |
C |
8: 4,324,171 (GRCm39) |
Y36C |
probably damaging |
Het |
| Trim34b |
G |
T |
7: 103,985,618 (GRCm39) |
V418F |
probably damaging |
Het |
| Vmn1r72 |
C |
T |
7: 11,404,350 (GRCm39) |
V33M |
probably damaging |
Het |
| Zcchc7 |
T |
C |
4: 44,931,084 (GRCm39) |
V412A |
probably benign |
Het |
| Zfand1 |
T |
A |
3: 10,406,079 (GRCm39) |
N210I |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,660,499 (GRCm39) |
H1251R |
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 |
|
|
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 |
|
|
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'- TCCTCGATGTAAGCAGTGCC -3'
(R):5'- CTATCAGATGAATGGGGATGAAGACTC -3'
Sequencing Primer
(F):5'- GCCAACAATATGTGTAGCTTGCC -3'
(R):5'- TGAATGGGGATGAAGACTCTATGAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation