Incidental Mutation 'R6753:Parp8'
| ID |
530919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp8
|
| Ensembl Gene |
ENSMUSG00000021725 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 8 |
| Synonyms |
D13Ertd275e, 2810430O08Rik |
| MMRRC Submission |
044870-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
116991356-117162073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 117031651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 354
(H354Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022239]
[ENSMUST00000223949]
[ENSMUST00000225344]
[ENSMUST00000226107]
|
| AlphaFold |
Q3UD82 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022239
AA Change: H354Y
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: H354Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
332 |
410 |
4.61e-10 |
PROSPERO |
|
internal_repeat_1
|
404 |
476 |
4.61e-10 |
PROSPERO |
|
low complexity region
|
497 |
514 |
N/A |
INTRINSIC |
|
Pfam:PARP
|
712 |
839 |
2e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223949
AA Change: H315Y
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225344
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226107
|
| Meta Mutation Damage Score |
0.1256 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
A |
11: 119,900,977 (GRCm39) |
P1083S |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,908,641 (GRCm39) |
N101I |
possibly damaging |
Het |
| Adrb2 |
A |
G |
18: 62,312,624 (GRCm39) |
V67A |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,345,504 (GRCm39) |
|
probably null |
Het |
| Akap10 |
A |
T |
11: 61,777,603 (GRCm39) |
M586K |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Armc1 |
A |
G |
3: 19,198,562 (GRCm39) |
F133L |
possibly damaging |
Het |
| Bank1 |
T |
C |
3: 135,799,069 (GRCm39) |
E424G |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,306,834 (GRCm39) |
E1363G |
probably damaging |
Het |
| Cacna1d |
C |
A |
14: 29,764,743 (GRCm39) |
A2076S |
probably damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,821,869 (GRCm39) |
L606* |
probably null |
Het |
| Ccdc8 |
C |
T |
7: 16,730,562 (GRCm39) |
Q684* |
probably null |
Het |
| Ces1b |
T |
A |
8: 93,793,648 (GRCm39) |
K314* |
probably null |
Het |
| Ces1e |
T |
A |
8: 93,941,756 (GRCm39) |
N238I |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,091,263 (GRCm39) |
N1238S |
probably benign |
Het |
| Cmtr2 |
T |
A |
8: 110,949,611 (GRCm39) |
D640E |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,787,196 (GRCm39) |
T559I |
unknown |
Het |
| Comt |
T |
C |
16: 18,226,771 (GRCm39) |
K205R |
probably benign |
Het |
| Dbp |
A |
T |
7: 45,357,828 (GRCm39) |
E232V |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,276,493 (GRCm39) |
T470A |
possibly damaging |
Het |
| Eml6 |
T |
A |
11: 29,704,987 (GRCm39) |
D1519V |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,128,732 (GRCm39) |
H31L |
possibly damaging |
Het |
| Exoc1 |
T |
A |
5: 76,711,186 (GRCm39) |
I86N |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,889,503 (GRCm39) |
S301P |
probably benign |
Het |
| Gas2l1 |
C |
T |
11: 5,014,254 (GRCm39) |
V69I |
probably damaging |
Het |
| Gm2042 |
T |
A |
12: 87,924,854 (GRCm39) |
I107K |
probably damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,054 (GRCm39) |
D385G |
probably null |
Het |
| Ints1 |
T |
A |
5: 139,750,930 (GRCm39) |
E824D |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,561,707 (GRCm39) |
D142G |
probably benign |
Het |
| Jaml |
A |
G |
9: 45,018,677 (GRCm39) |
N359D |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,680,721 (GRCm39) |
I289L |
probably benign |
Het |
| Klf12 |
G |
A |
14: 100,347,212 (GRCm39) |
Q40* |
probably null |
Het |
| Mcm4 |
A |
C |
16: 15,447,226 (GRCm39) |
N579K |
possibly damaging |
Het |
| Mfsd2b |
A |
T |
12: 4,917,358 (GRCm39) |
F179I |
possibly damaging |
Het |
| Mmp11 |
C |
T |
10: 75,764,208 (GRCm39) |
V86M |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,092,863 (GRCm39) |
V101A |
probably damaging |
Het |
| Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
| Or5ak4 |
C |
A |
2: 85,162,142 (GRCm39) |
M33I |
probably benign |
Het |
| Otog |
A |
C |
7: 45,898,495 (GRCm39) |
E204D |
probably benign |
Het |
| Pcnx1 |
C |
A |
12: 82,011,254 (GRCm39) |
D1238E |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,351,081 (GRCm39) |
T642I |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,453,059 (GRCm39) |
E3995K |
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,765,218 (GRCm39) |
Y521N |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,254,680 (GRCm39) |
S1105G |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,638,153 (GRCm39) |
F308I |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,542,848 (GRCm39) |
A167V |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,430,369 (GRCm39) |
Q871R |
possibly damaging |
Het |
| Rorb |
A |
T |
19: 18,934,611 (GRCm39) |
M253K |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,482,955 (GRCm39) |
D4269G |
probably damaging |
Het |
| Snx11 |
T |
C |
11: 96,660,732 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
G |
16: 91,454,076 (GRCm39) |
Q941R |
probably damaging |
Het |
| Sptbn2 |
G |
T |
19: 4,797,813 (GRCm39) |
R1880L |
probably benign |
Het |
| Sun1 |
G |
A |
5: 139,201,014 (GRCm39) |
|
probably null |
Het |
| Tprn |
A |
G |
2: 25,154,050 (GRCm39) |
R451G |
probably benign |
Het |
| Trbv30 |
T |
A |
6: 41,258,311 (GRCm39) |
M1K |
probably null |
Het |
| Ttn |
C |
A |
2: 76,568,565 (GRCm39) |
G25697W |
probably damaging |
Het |
| Ubb |
T |
G |
11: 62,442,353 (GRCm39) |
|
probably null |
Het |
| Unc13b |
C |
T |
4: 43,239,331 (GRCm39) |
R1038C |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,514,775 (GRCm39) |
M687V |
probably benign |
Het |
| Zfp160 |
G |
A |
17: 21,240,996 (GRCm39) |
M21I |
probably benign |
Het |
| Zfp868 |
T |
C |
8: 70,064,747 (GRCm39) |
N196S |
probably benign |
Het |
| Zup1 |
A |
T |
10: 33,804,025 (GRCm39) |
I483N |
probably damaging |
Het |
|
| Other mutations in Parp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Parp8
|
APN |
13 |
117,063,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01346:Parp8
|
APN |
13 |
117,031,600 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01793:Parp8
|
APN |
13 |
117,047,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Parp8
|
APN |
13 |
116,998,838 (GRCm39) |
splice site |
probably benign |
|
|
IGL01958:Parp8
|
APN |
13 |
117,013,108 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02131:Parp8
|
APN |
13 |
117,047,409 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02398:Parp8
|
APN |
13 |
117,047,399 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02496:Parp8
|
APN |
13 |
116,998,838 (GRCm39) |
splice site |
probably benign |
|
|
IGL03135:Parp8
|
APN |
13 |
117,047,478 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03143:Parp8
|
APN |
13 |
117,047,497 (GRCm39) |
splice site |
probably benign |
|
|
IGL03201:Parp8
|
APN |
13 |
116,999,605 (GRCm39) |
splice site |
probably benign |
|
|
blondi
|
UTSW |
13 |
117,029,577 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Heidi
|
UTSW |
13 |
116,998,740 (GRCm39) |
splice site |
probably null |
|
|
R0362:Parp8
|
UTSW |
13 |
117,061,504 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Parp8
|
UTSW |
13 |
117,059,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1445:Parp8
|
UTSW |
13 |
117,161,886 (GRCm39) |
splice site |
probably null |
|
|
R1676:Parp8
|
UTSW |
13 |
117,014,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1977:Parp8
|
UTSW |
13 |
117,047,449 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2019:Parp8
|
UTSW |
13 |
117,004,968 (GRCm39) |
splice site |
probably benign |
|
|
R2049:Parp8
|
UTSW |
13 |
117,031,422 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2142:Parp8
|
UTSW |
13 |
117,031,422 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2474:Parp8
|
UTSW |
13 |
117,029,577 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2566:Parp8
|
UTSW |
13 |
117,032,223 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3863:Parp8
|
UTSW |
13 |
117,031,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4126:Parp8
|
UTSW |
13 |
117,005,005 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4518:Parp8
|
UTSW |
13 |
117,032,209 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4519:Parp8
|
UTSW |
13 |
117,032,209 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4767:Parp8
|
UTSW |
13 |
117,005,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5355:Parp8
|
UTSW |
13 |
116,998,740 (GRCm39) |
splice site |
probably null |
|
|
R5633:Parp8
|
UTSW |
13 |
117,013,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Parp8
|
UTSW |
13 |
117,005,969 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5978:Parp8
|
UTSW |
13 |
117,032,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6039:Parp8
|
UTSW |
13 |
117,014,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Parp8
|
UTSW |
13 |
117,014,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7016:Parp8
|
UTSW |
13 |
117,031,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Parp8
|
UTSW |
13 |
117,161,802 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7305:Parp8
|
UTSW |
13 |
117,031,461 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7314:Parp8
|
UTSW |
13 |
117,004,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7360:Parp8
|
UTSW |
13 |
117,032,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7526:Parp8
|
UTSW |
13 |
117,031,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Parp8
|
UTSW |
13 |
117,061,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8108:Parp8
|
UTSW |
13 |
117,003,609 (GRCm39) |
nonsense |
probably null |
|
|
R8372:Parp8
|
UTSW |
13 |
116,991,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Parp8
|
UTSW |
13 |
117,013,126 (GRCm39) |
missense |
probably benign |
|
|
R9072:Parp8
|
UTSW |
13 |
117,047,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Parp8
|
UTSW |
13 |
117,047,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9351:Parp8
|
UTSW |
13 |
117,000,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9441:Parp8
|
UTSW |
13 |
117,029,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Parp8
|
UTSW |
13 |
117,039,360 (GRCm39) |
nonsense |
probably null |
|
|
R9470:Parp8
|
UTSW |
13 |
117,031,292 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9562:Parp8
|
UTSW |
13 |
117,029,631 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCAGTGTGAGGCAGTCC -3'
(R):5'- GATCCGTTCTGCACCCAAAG -3'
Sequencing Primer
(F):5'- AGGCAGTCCTCTTGCTTGC -3'
(R):5'- CCCAAAGCAGGGTGTTGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation