Incidental Mutation 'IGL03297:Parp11'
ID |
416141 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Parp11
|
Ensembl Gene |
ENSMUSG00000037997 |
Gene Name |
poly (ADP-ribose) polymerase family, member 11 |
Synonyms |
5330431N24Rik, HIN1L |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03297
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
127423803-127471224 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 127467045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107810
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039680]
[ENSMUST00000112191]
|
AlphaFold |
Q8CFF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039680
|
SMART Domains |
Protein: ENSMUSP00000036127 Gene: ENSMUSG00000037997
Domain | Start | End | E-Value | Type |
Pfam:WWE
|
25 |
99 |
1.4e-18 |
PFAM |
Pfam:PARP
|
129 |
331 |
4.1e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112191
|
SMART Domains |
Protein: ENSMUSP00000107810 Gene: ENSMUSG00000037997
Domain | Start | End | E-Value | Type |
Pfam:PARP
|
46 |
248 |
4e-51 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134018
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202455
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired male fertility and teratozoospermia associated with sperm head malformations and nuclear envelope defects during the nuclear reshaping process of spermatid elongation and condensation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,341,663 (GRCm39) |
G1624S |
probably damaging |
Het |
Adhfe1 |
A |
G |
1: 9,620,173 (GRCm39) |
|
probably benign |
Het |
Ano6 |
C |
A |
15: 95,860,158 (GRCm39) |
T760N |
probably damaging |
Het |
Camsap2 |
T |
C |
1: 136,225,539 (GRCm39) |
M196V |
probably benign |
Het |
Cd209d |
T |
C |
8: 3,928,476 (GRCm39) |
D3G |
possibly damaging |
Het |
Cdh5 |
T |
A |
8: 104,854,831 (GRCm39) |
F253Y |
probably damaging |
Het |
Cnot10 |
T |
C |
9: 114,427,784 (GRCm39) |
E610G |
possibly damaging |
Het |
Cnot4 |
T |
C |
6: 35,001,158 (GRCm39) |
N579S |
probably benign |
Het |
Csmd1 |
G |
T |
8: 16,059,432 (GRCm39) |
S2101* |
probably null |
Het |
Dgkq |
C |
A |
5: 108,798,140 (GRCm39) |
R706L |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,125,727 (GRCm39) |
|
noncoding transcript |
Het |
Gpr34 |
A |
G |
X: 13,505,681 (GRCm39) |
Y70C |
probably damaging |
Het |
Herc6 |
T |
A |
6: 57,639,374 (GRCm39) |
L914Q |
probably benign |
Het |
Ifitm6 |
T |
C |
7: 140,595,948 (GRCm39) |
Y115C |
probably damaging |
Het |
Iqcg |
G |
T |
16: 32,856,002 (GRCm39) |
|
probably benign |
Het |
Myo15a |
A |
G |
11: 60,369,967 (GRCm39) |
D909G |
probably damaging |
Het |
Nefl |
A |
G |
14: 68,321,673 (GRCm39) |
T88A |
possibly damaging |
Het |
Nfatc2 |
T |
A |
2: 168,378,138 (GRCm39) |
N509I |
probably damaging |
Het |
Nkd1 |
T |
C |
8: 89,300,902 (GRCm39) |
|
probably benign |
Het |
Npas2 |
T |
C |
1: 39,331,771 (GRCm39) |
V62A |
possibly damaging |
Het |
Oas2 |
T |
G |
5: 120,873,150 (GRCm39) |
D635A |
possibly damaging |
Het |
Obscn |
C |
T |
11: 58,951,712 (GRCm39) |
V4014M |
possibly damaging |
Het |
Ogfr |
C |
A |
2: 180,236,200 (GRCm39) |
H262N |
possibly damaging |
Het |
Or10aa1 |
T |
G |
1: 173,869,683 (GRCm39) |
S56A |
probably benign |
Het |
Or8b49 |
A |
T |
9: 38,505,821 (GRCm39) |
L101F |
probably benign |
Het |
Pa2g4 |
T |
C |
10: 128,399,105 (GRCm39) |
D104G |
probably damaging |
Het |
Ppp2r5a |
C |
T |
1: 191,086,959 (GRCm39) |
V360I |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,688,943 (GRCm39) |
K912I |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,202 (GRCm39) |
S938P |
probably benign |
Het |
Slc15a1 |
A |
C |
14: 121,724,096 (GRCm39) |
I170S |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,656,695 (GRCm39) |
N1924S |
probably benign |
Het |
Sprr4 |
G |
A |
3: 92,407,731 (GRCm39) |
P24S |
unknown |
Het |
Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
Tyw1 |
C |
T |
5: 130,369,575 (GRCm39) |
A687V |
probably damaging |
Het |
Vmn2r14 |
T |
A |
5: 109,363,973 (GRCm39) |
I648F |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,969 (GRCm39) |
C162* |
probably null |
Het |
|
Other mutations in Parp11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01358:Parp11
|
APN |
6 |
127,448,526 (GRCm39) |
nonsense |
probably null |
|
IGL01548:Parp11
|
APN |
6 |
127,468,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01638:Parp11
|
APN |
6 |
127,468,492 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01688:Parp11
|
APN |
6 |
127,448,569 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03201:Parp11
|
APN |
6 |
127,466,981 (GRCm39) |
missense |
possibly damaging |
0.80 |
H8786:Parp11
|
UTSW |
6 |
127,448,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Parp11
|
UTSW |
6 |
127,451,256 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1817:Parp11
|
UTSW |
6 |
127,467,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R1868:Parp11
|
UTSW |
6 |
127,447,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R1942:Parp11
|
UTSW |
6 |
127,447,663 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2011:Parp11
|
UTSW |
6 |
127,454,854 (GRCm39) |
missense |
probably benign |
0.02 |
R4483:Parp11
|
UTSW |
6 |
127,448,568 (GRCm39) |
missense |
probably benign |
|
R4507:Parp11
|
UTSW |
6 |
127,451,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R4593:Parp11
|
UTSW |
6 |
127,451,262 (GRCm39) |
missense |
probably benign |
0.03 |
R5024:Parp11
|
UTSW |
6 |
127,448,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R5371:Parp11
|
UTSW |
6 |
127,447,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R6608:Parp11
|
UTSW |
6 |
127,454,811 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7606:Parp11
|
UTSW |
6 |
127,447,723 (GRCm39) |
missense |
probably benign |
0.06 |
R8772:Parp11
|
UTSW |
6 |
127,468,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R8772:Parp11
|
UTSW |
6 |
127,447,726 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9042:Parp11
|
UTSW |
6 |
127,448,615 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |