Incidental Mutation 'IGL01542:Nhlrc1'
ID90188
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhlrc1
Ensembl Gene ENSMUSG00000044231
Gene NameNHL repeat containing 1
SynonymsMalin, EPM2B, B230309E09Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.324) question?
Stock #IGL01542
Quality Score
Status
Chromosome13
Chromosomal Location47012557-47014850 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 47014131 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 217 (F217I)
Ref Sequence ENSEMBL: ENSMUSP00000054990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052747]
Predicted Effect probably damaging
Transcript: ENSMUST00000052747
AA Change: F217I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054990
Gene: ENSMUSG00000044231
AA Change: F217I

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
RING 28 73 1.45e-6 SMART
low complexity region 89 99 N/A INTRINSIC
low complexity region 101 113 N/A INTRINSIC
internal_repeat_1 128 245 5.99e-5 PROSPERO
internal_repeat_1 263 394 5.99e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000060680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225443
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accumulation of Lafora bodies and total glycogen levels in the heart muscle, skeletal muscle, and brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A G 1: 177,743,384 T95A possibly damaging Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arhgap20 A G 9: 51,838,887 M316V probably benign Het
Chd7 T G 4: 8,859,285 N2458K possibly damaging Het
Clock T C 5: 76,231,475 E538G possibly damaging Het
Clpb G A 7: 101,787,505 V596I probably damaging Het
Col9a3 T C 2: 180,609,316 probably benign Het
D130043K22Rik G A 13: 24,876,037 probably null Het
Drd4 T C 7: 141,293,831 probably benign Het
Fam228b A T 12: 4,763,055 I105N probably damaging Het
Gm20939 A T 17: 94,874,293 probably benign Het
Gm4952 A G 19: 12,618,407 T54A possibly damaging Het
Hbs1l T C 10: 21,307,756 V132A probably benign Het
Kpna2 T A 11: 106,991,201 E266D probably benign Het
Lars T C 18: 42,214,827 E977G probably benign Het
Lrrn4 T C 2: 132,879,472 T142A probably benign Het
Myo19 T C 11: 84,909,546 L919P probably damaging Het
Olfr1495 T C 19: 13,768,537 F65S probably damaging Het
Plch1 T C 3: 63,731,649 I468V probably damaging Het
Rergl T A 6: 139,493,498 probably null Het
Sctr A G 1: 120,044,769 probably benign Het
Sdhb T C 4: 140,972,967 V126A probably benign Het
Smad3 C T 9: 63,655,586 R214Q probably damaging Het
Tdrd9 T C 12: 112,046,989 M1219T possibly damaging Het
Tmem167b A T 3: 108,558,906 N75K possibly damaging Het
Vmn2r83 T C 10: 79,479,012 S365P probably benign Het
Vps16 T C 2: 130,438,394 F153L probably damaging Het
Other mutations in Nhlrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Nhlrc1 APN 13 47013962 missense probably benign 0.00
R1540:Nhlrc1 UTSW 13 47014344 missense probably damaging 1.00
R2116:Nhlrc1 UTSW 13 47014185 missense probably benign 0.00
R4243:Nhlrc1 UTSW 13 47014026 missense probably benign 0.06
R4563:Nhlrc1 UTSW 13 47014190 missense possibly damaging 0.67
R4975:Nhlrc1 UTSW 13 47013740 missense probably benign 0.28
R5100:Nhlrc1 UTSW 13 47014421 missense probably benign
R5671:Nhlrc1 UTSW 13 47013717 missense probably benign 0.06
R5770:Nhlrc1 UTSW 13 47014712 missense probably benign 0.22
R6476:Nhlrc1 UTSW 13 47014181 missense possibly damaging 0.95
R6886:Nhlrc1 UTSW 13 47013776 missense possibly damaging 0.94
R7223:Nhlrc1 UTSW 13 47014208 missense probably benign 0.27
R8807:Nhlrc1 UTSW 13 47014514 missense probably damaging 1.00
Posted On2013-12-03