Incidental Mutation 'IGL01638:Parp11'
ID |
93137 |
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 # |
IGL01638
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
127423803-127471224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127468492 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 181
(F181I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107810
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039680]
[ENSMUST00000112191]
|
AlphaFold |
Q8CFF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039680
AA Change: F264I
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000036127 Gene: ENSMUSG00000037997 AA Change: F264I
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
AA Change: F181I
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000107810 Gene: ENSMUSG00000037997 AA Change: F181I
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,849,409 (GRCm39) |
T436A |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,598,832 (GRCm39) |
|
probably benign |
Het |
Ajap1 |
A |
G |
4: 153,516,693 (GRCm39) |
V216A |
possibly damaging |
Het |
Akap7 |
T |
A |
10: 25,143,323 (GRCm39) |
I124F |
probably damaging |
Het |
Arfgef2 |
G |
A |
2: 166,715,865 (GRCm39) |
V1385M |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,225,138 (GRCm39) |
K65E |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,028,460 (GRCm39) |
N2377D |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,298,456 (GRCm39) |
F1260S |
probably damaging |
Het |
Cad |
T |
A |
5: 31,224,958 (GRCm39) |
C954S |
probably damaging |
Het |
Fcmr |
A |
T |
1: 130,802,859 (GRCm39) |
E157D |
probably benign |
Het |
Gm4204 |
A |
T |
1: 135,160,873 (GRCm39) |
|
noncoding transcript |
Het |
Gzmn |
A |
T |
14: 56,406,476 (GRCm39) |
D16E |
probably benign |
Het |
Krt86 |
A |
C |
15: 101,373,353 (GRCm39) |
|
probably benign |
Het |
Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
Ms4a6d |
A |
T |
19: 11,564,532 (GRCm39) |
L113Q |
probably damaging |
Het |
Myh15 |
T |
C |
16: 48,889,843 (GRCm39) |
S145P |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,688,724 (GRCm39) |
K518E |
probably damaging |
Het |
Or8d6 |
T |
C |
9: 39,853,816 (GRCm39) |
S87P |
probably benign |
Het |
Ppil1 |
C |
A |
17: 29,480,766 (GRCm39) |
K52N |
probably benign |
Het |
Prl5a1 |
T |
A |
13: 28,329,422 (GRCm39) |
C34S |
possibly damaging |
Het |
Prss55 |
A |
G |
14: 64,314,636 (GRCm39) |
V178A |
probably benign |
Het |
S100a7a |
A |
G |
3: 90,562,837 (GRCm39) |
D8G |
probably benign |
Het |
Sh3glb2 |
A |
G |
2: 30,235,862 (GRCm39) |
V310A |
possibly damaging |
Het |
Slc22a7 |
T |
C |
17: 46,748,920 (GRCm39) |
|
probably null |
Het |
Slc27a6 |
A |
G |
18: 58,740,885 (GRCm39) |
D482G |
probably damaging |
Het |
Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
Specc1l |
T |
A |
10: 75,082,039 (GRCm39) |
Y478* |
probably null |
Het |
Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
Tcerg1l |
G |
A |
7: 137,881,805 (GRCm39) |
R295C |
probably damaging |
Het |
Trpv1 |
T |
C |
11: 73,144,155 (GRCm39) |
I637T |
probably damaging |
Het |
Ttc7 |
A |
C |
17: 87,666,540 (GRCm39) |
|
probably null |
Het |
Vmn1r6 |
C |
T |
6: 56,980,177 (GRCm39) |
Q280* |
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 |
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 |
IGL03297:Parp11
|
APN |
6 |
127,467,045 (GRCm39) |
splice site |
probably benign |
|
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 |
2013-12-09 |