Incidental Mutation 'R4593:Parp11'
ID 344209
Institutional Source Beutler Lab
Gene Symbol Parp11
Ensembl Gene ENSMUSG00000037997
Gene Name poly (ADP-ribose) polymerase family, member 11
Synonyms 5330431N24Rik, HIN1L
MMRRC Submission 041809-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4593 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 127423803-127471224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127451262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 104 (I104T)
Ref Sequence ENSEMBL: ENSMUSP00000107814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039680] [ENSMUST00000112191] [ENSMUST00000112193] [ENSMUST00000112195] [ENSMUST00000144115]
AlphaFold Q8CFF0
Predicted Effect probably benign
Transcript: ENSMUST00000039680
AA Change: I104T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000036127
Gene: ENSMUSG00000037997
AA Change: I104T

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: I21T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107810
Gene: ENSMUSG00000037997
AA Change: I21T

DomainStartEndE-ValueType
Pfam:PARP 46 248 4e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112193
AA Change: I104T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107812
Gene: ENSMUSG00000037997
AA Change: I104T

DomainStartEndE-ValueType
Pfam:WWE 22 99 4.5e-12 PFAM
Pfam:PARP 129 176 2.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112195
AA Change: I104T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107814
Gene: ENSMUSG00000037997
AA Change: I104T

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 noncoding transcript
Transcript: ENSMUST00000134018
Predicted Effect probably benign
Transcript: ENSMUST00000144115
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (45/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Atm G T 9: 53,364,894 (GRCm39) A8E possibly damaging Het
Atxn3 A T 12: 101,889,436 (GRCm39) M333K probably benign Het
Cd86 A G 16: 36,426,918 (GRCm39) *310R probably null Het
Cyp2s1 ACAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAG 7: 25,515,867 (GRCm39) probably benign Het
Dgat1 C A 15: 76,388,889 (GRCm39) R111S probably damaging Het
Dner T C 1: 84,673,449 (GRCm39) M1V probably null Het
Dnhd1 G A 7: 105,364,653 (GRCm39) D4240N probably benign Het
Emp3 A G 7: 45,568,777 (GRCm39) L27P probably damaging Het
Glra3 G T 8: 56,393,916 (GRCm39) G9V probably damaging Het
Gpr149 A T 3: 62,510,151 (GRCm39) probably benign Het
Ighv1-9 T C 12: 114,547,224 (GRCm39) T105A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Ldhd T C 8: 112,355,996 (GRCm39) D129G probably damaging Het
Lnpep A G 17: 17,799,289 (GRCm39) V122A probably benign Het
Lrrc37a A G 11: 103,389,795 (GRCm39) Y1877H possibly damaging Het
Med13l T C 5: 118,880,625 (GRCm39) L1239P probably damaging Het
Mib1 T C 18: 10,768,191 (GRCm39) L480S possibly damaging Het
Mkrn3 C T 7: 62,068,552 (GRCm39) W413* probably null Het
Myo7b A G 18: 32,146,428 (GRCm39) V119A possibly damaging Het
Nexn T A 3: 151,958,553 (GRCm39) R113S probably damaging Het
Npas3 A T 12: 54,115,280 (GRCm39) Q703L probably benign Het
Npr2 A G 4: 43,647,323 (GRCm39) probably benign Het
Nub1 A G 5: 24,914,119 (GRCm39) Y624C probably damaging Het
Obscn A C 11: 59,024,075 (GRCm39) S532A probably damaging Het
Or1e33 T A 11: 73,738,140 (GRCm39) K270N probably benign Het
Or9g20 A G 2: 85,630,008 (GRCm39) L202P probably damaging Het
Panx2 T C 15: 88,952,118 (GRCm39) I195T probably damaging Het
Pkd1l1 G T 11: 8,851,253 (GRCm39) D726E probably damaging Het
Pom121l2 C T 13: 22,168,623 (GRCm39) R965W probably damaging Het
Prrc2c T C 1: 162,525,101 (GRCm39) K502E probably damaging Het
Rasa1 T C 13: 85,386,340 (GRCm39) probably null Het
Sva T C 6: 42,019,592 (GRCm39) S151P possibly damaging Het
Svep1 T C 4: 58,091,944 (GRCm39) N1564D possibly damaging Het
Unk T C 11: 115,939,882 (GRCm39) I129T probably benign Het
Urb1 T C 16: 90,584,332 (GRCm39) D550G probably damaging Het
Vmn1r194 T A 13: 22,428,461 (GRCm39) M26K possibly damaging Het
Vmn1r59 A T 7: 5,457,686 (GRCm39) F25I possibly damaging Het
Vmn1r88 A G 7: 12,911,769 (GRCm39) K42E probably damaging Het
Zbtb24 A G 10: 41,327,953 (GRCm39) R280G possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GGGCCTTAGATCAAGCACTGAAG -3'
(R):5'- ACTCCATCAGTGAACACGAG -3'

Sequencing Primer
(F):5'- CCTTTGCAACATGATAAAAAGGTCAC -3'
(R):5'- CAGTGAACACGAGGTTTAATACTGC -3'
Posted On 2015-09-25