Incidental Mutation 'IGL01358:Parp11'
ID 75619
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 # IGL01358
Quality Score
Status
Chromosome 6
Chromosomal Location 127423803-127471224 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 127448526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 48 (Q48*)
Ref Sequence ENSEMBL: ENSMUSP00000107814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039680] [ENSMUST00000112191] [ENSMUST00000112193] [ENSMUST00000112195] [ENSMUST00000144115]
AlphaFold Q8CFF0
Predicted Effect probably null
Transcript: ENSMUST00000039680
AA Change: Q48*
SMART Domains Protein: ENSMUSP00000036127
Gene: ENSMUSG00000037997
AA Change: Q48*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:PARP 46 248 4e-51 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112193
AA Change: Q48*
SMART Domains Protein: ENSMUSP00000107812
Gene: ENSMUSG00000037997
AA Change: Q48*

DomainStartEndE-ValueType
Pfam:WWE 22 99 4.5e-12 PFAM
Pfam:PARP 129 176 2.3e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112195
AA Change: Q48*
SMART Domains Protein: ENSMUSP00000107814
Gene: ENSMUSG00000037997
AA Change: Q48*

DomainStartEndE-ValueType
Pfam:WWE 22 99 4.5e-12 PFAM
Pfam:PARP 129 176 2.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201717
Predicted Effect probably benign
Transcript: ENSMUST00000144115
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,335,579 (GRCm39) Y316C probably damaging Het
Atp6v0a4 T G 6: 38,051,145 (GRCm39) D411A probably damaging Het
Calr3 A T 8: 73,181,057 (GRCm39) Y178* probably null Het
Ces1e A G 8: 93,940,778 (GRCm39) L298P probably damaging Het
Clk3 T C 9: 57,661,875 (GRCm39) T391A probably damaging Het
Cr2 A G 1: 194,842,128 (GRCm39) I275T probably damaging Het
Cul9 G T 17: 46,849,240 (GRCm39) P635H probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dscam A T 16: 96,411,543 (GRCm39) S1778T possibly damaging Het
Dsg2 T A 18: 20,734,850 (GRCm39) Y943N probably damaging Het
Eml1 A T 12: 108,480,727 (GRCm39) T398S probably benign Het
Epha3 G A 16: 63,416,109 (GRCm39) probably benign Het
Hacl1 A T 14: 31,348,374 (GRCm39) M200K probably benign Het
Ighmbp2 T A 19: 3,318,817 (GRCm39) S420C probably damaging Het
Kcnt1 T A 2: 25,806,017 (GRCm39) I1200N probably damaging Het
Kctd21 T A 7: 96,996,581 (GRCm39) L18Q probably damaging Het
Krt78 A C 15: 101,854,698 (GRCm39) S1038A probably benign Het
Lrp2 C A 2: 69,382,814 (GRCm39) probably benign Het
Lrrc41 T A 4: 115,932,784 (GRCm39) V60D probably benign Het
Mafk T C 5: 139,786,248 (GRCm39) S149P probably damaging Het
Mest T A 6: 30,746,330 (GRCm39) probably benign Het
Nlrp1b G A 11: 71,072,682 (GRCm39) T387I possibly damaging Het
Notch3 C T 17: 32,363,721 (GRCm39) D1140N probably damaging Het
Nxph2 A G 2: 23,290,086 (GRCm39) N146S probably damaging Het
Olfm1 T C 2: 28,119,507 (GRCm39) C381R probably damaging Het
Or56b1b T A 7: 108,164,409 (GRCm39) R198W probably benign Het
Or5p81 C T 7: 108,266,869 (GRCm39) P82L possibly damaging Het
Pgc T C 17: 48,041,591 (GRCm39) V175A probably benign Het
Pira12 A G 7: 3,898,686 (GRCm39) V254A probably benign Het
Plxna1 G T 6: 89,299,732 (GRCm39) T1679N probably damaging Het
Pnpt1 G T 11: 29,088,425 (GRCm39) L229F possibly damaging Het
Ppp1r12b A T 1: 134,819,897 (GRCm39) L282Q probably damaging Het
Rag2 C A 2: 101,460,365 (GRCm39) A225D possibly damaging Het
Ralgps1 T C 2: 33,033,061 (GRCm39) D456G possibly damaging Het
Rasgrf2 T A 13: 92,130,749 (GRCm39) T170S probably benign Het
Rel C T 11: 23,711,155 (GRCm39) S4N probably benign Het
Rims3 C T 4: 120,748,700 (GRCm39) S307F possibly damaging Het
Rnf123 A G 9: 107,946,381 (GRCm39) L290P probably damaging Het
Rtn4r G T 16: 17,969,260 (GRCm39) M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 (GRCm39) R1407Q probably damaging Het
Sec23ip A T 7: 128,354,521 (GRCm39) Q259L possibly damaging Het
Slc24a4 G A 12: 102,189,894 (GRCm39) C204Y probably benign Het
Slc27a3 T C 3: 90,293,859 (GRCm39) T542A probably damaging Het
Smarcal1 A T 1: 72,655,724 (GRCm39) I668F possibly damaging Het
Snap91 C A 9: 86,688,613 (GRCm39) V311F probably damaging Het
Sp8 T A 12: 118,812,705 (GRCm39) S187T probably damaging Het
Tcerg1 T C 18: 42,657,342 (GRCm39) S275P unknown Het
Vwce T A 19: 10,641,773 (GRCm39) V833D possibly damaging Het
Zbtb8b A G 4: 129,327,052 (GRCm39) S38P probably damaging Het
Zfp598 T C 17: 24,900,398 (GRCm39) probably benign Het
Zkscan4 G A 13: 21,668,475 (GRCm39) E309K possibly damaging Het
Other mutations in Parp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-10-07