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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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