Incidental Mutation 'IGL01358:Parp11'
ID75619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp11
Ensembl Gene ENSMUSG00000037997
Gene Namepoly (ADP-ribose) polymerase family, member 11
Synonyms5330431N24Rik, HIN1L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01358
Quality Score
Status
Chromosome6
Chromosomal Location127446840-127494261 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 127471563 bp
ZygosityHeterozygous
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]
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 probably benign
Transcript: ENSMUST00000144115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201717
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: 27,636,154 Y316C probably damaging Het
Atp6v0a4 T G 6: 38,074,210 D411A probably damaging Het
Calr3 A T 8: 72,427,213 Y178* probably null Het
Ces1e A G 8: 93,214,150 L298P probably damaging Het
Clk3 T C 9: 57,754,592 T391A probably damaging Het
Cr2 A G 1: 195,159,820 I275T probably damaging Het
Cul9 G T 17: 46,538,314 P635H probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dscam A T 16: 96,610,343 S1778T possibly damaging Het
Dsg2 T A 18: 20,601,793 Y943N probably damaging Het
Eml1 A T 12: 108,514,468 T398S probably benign Het
Epha3 G A 16: 63,595,746 probably benign Het
Gm14548 A G 7: 3,895,687 V254A probably benign Het
Hacl1 A T 14: 31,626,417 M200K probably benign Het
Ighmbp2 T A 19: 3,268,817 S420C probably damaging Het
Kcnt1 T A 2: 25,916,005 I1200N probably damaging Het
Kctd21 T A 7: 97,347,374 L18Q probably damaging Het
Krt78 A C 15: 101,946,263 S1038A probably benign Het
Lrp2 C A 2: 69,552,470 probably benign Het
Lrrc41 T A 4: 116,075,587 V60D probably benign Het
Mafk T C 5: 139,800,493 S149P probably damaging Het
Mest T A 6: 30,746,331 probably benign Het
Nlrp1b G A 11: 71,181,856 T387I possibly damaging Het
Notch3 C T 17: 32,144,747 D1140N probably damaging Het
Nxph2 A G 2: 23,400,074 N146S probably damaging Het
Olfm1 T C 2: 28,229,495 C381R probably damaging Het
Olfr504 T A 7: 108,565,202 R198W probably benign Het
Olfr510 C T 7: 108,667,662 P82L possibly damaging Het
Pgc T C 17: 47,730,666 V175A probably benign Het
Plxna1 G T 6: 89,322,750 T1679N probably damaging Het
Pnpt1 G T 11: 29,138,425 L229F possibly damaging Het
Ppp1r12b A T 1: 134,892,159 L282Q probably damaging Het
Rag2 C A 2: 101,630,020 A225D possibly damaging Het
Ralgps1 T C 2: 33,143,049 D456G possibly damaging Het
Rasgrf2 T A 13: 91,982,630 T170S probably benign Het
Rel C T 11: 23,761,155 S4N probably benign Het
Rims3 C T 4: 120,891,503 S307F possibly damaging Het
Rnf123 A G 9: 108,069,182 L290P probably damaging Het
Rtn4r G T 16: 18,151,396 M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 R1407Q probably damaging Het
Sec23ip A T 7: 128,752,797 Q259L possibly damaging Het
Slc24a4 G A 12: 102,223,635 C204Y probably benign Het
Slc27a3 T C 3: 90,386,552 T542A probably damaging Het
Smarcal1 A T 1: 72,616,565 I668F possibly damaging Het
Snap91 C A 9: 86,806,560 V311F probably damaging Het
Sp8 T A 12: 118,848,970 S187T probably damaging Het
Tcerg1 T C 18: 42,524,277 S275P unknown Het
Vwce T A 19: 10,664,409 V833D possibly damaging Het
Zbtb8b A G 4: 129,433,259 S38P probably damaging Het
Zfp598 T C 17: 24,681,424 probably benign Het
Zkscan4 G A 13: 21,484,305 E309K possibly damaging Het
Other mutations in Parp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Parp11 APN 6 127491599 missense probably damaging 1.00
IGL01638:Parp11 APN 6 127491529 missense probably benign 0.13
IGL01688:Parp11 APN 6 127471606 missense probably benign 0.00
IGL03201:Parp11 APN 6 127490018 missense possibly damaging 0.80
IGL03297:Parp11 APN 6 127490082 splice site probably benign
H8786:Parp11 UTSW 6 127471635 missense probably damaging 1.00
R1514:Parp11 UTSW 6 127474293 missense possibly damaging 0.89
R1817:Parp11 UTSW 6 127490045 missense probably damaging 1.00
R1868:Parp11 UTSW 6 127470777 missense probably damaging 1.00
R1942:Parp11 UTSW 6 127470700 critical splice acceptor site probably null
R2011:Parp11 UTSW 6 127477891 missense probably benign 0.02
R4483:Parp11 UTSW 6 127471605 missense probably benign
R4507:Parp11 UTSW 6 127474283 missense probably damaging 1.00
R4593:Parp11 UTSW 6 127474299 missense probably benign 0.03
R5024:Parp11 UTSW 6 127471636 missense probably damaging 1.00
R5371:Parp11 UTSW 6 127470792 missense probably damaging 1.00
R6608:Parp11 UTSW 6 127477848 missense possibly damaging 0.93
R7606:Parp11 UTSW 6 127470760 missense probably benign 0.06
Posted On2013-10-07