Incidental Mutation 'R4243:Nhlrc1'
ID 320316
Institutional Source Beutler Lab
Gene Symbol Nhlrc1
Ensembl Gene ENSMUSG00000044231
Gene Name NHL repeat containing 1
Synonyms Malin, EPM2B, B230309E09Rik
MMRRC Submission 041643-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R4243 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 47166033-47168326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47167502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 252 (V252I)
Ref Sequence ENSEMBL: ENSMUSP00000054990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052747]
AlphaFold Q8BR37
Predicted Effect probably benign
Transcript: ENSMUST00000052747
AA Change: V252I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000054990
Gene: ENSMUSG00000044231
AA Change: V252I

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: ENSMUST00000224739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225443
Meta Mutation Damage Score 0.0605 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik C A 5: 114,951,855 (GRCm39) R40L possibly damaging Het
4930449A18Rik T A 3: 59,733,203 (GRCm39) noncoding transcript Het
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
4933409G03Rik C T 2: 68,423,887 (GRCm39) probably benign Het
Actr1b T C 1: 36,740,911 (GRCm39) Y171C possibly damaging Het
Birc2 T C 9: 7,834,386 (GRCm39) T32A probably benign Het
Cdh13 T A 8: 119,968,996 (GRCm39) V451E probably damaging Het
Cdh20 C T 1: 104,869,868 (GRCm39) T196I probably damaging Het
Cdt1 A G 8: 123,298,157 (GRCm39) M383V probably benign Het
Chrna9 T C 5: 66,092,379 (GRCm39) probably null Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cspg4 T C 9: 56,795,141 (GRCm39) S959P probably benign Het
Ctbp2 A G 7: 132,600,583 (GRCm39) I647T probably benign Het
Cyld A T 8: 89,457,383 (GRCm39) R536* probably null Het
Ddx1 A T 12: 13,290,910 (GRCm39) C68* probably null Het
Dock10 T A 1: 80,544,472 (GRCm39) E905V probably benign Het
Dynlt1b T C 17: 6,697,639 (GRCm39) probably null Het
Faxc G A 4: 21,982,491 (GRCm39) R310Q probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Frmd5 C A 2: 121,393,363 (GRCm39) probably null Het
Gm5174 C A 10: 86,492,144 (GRCm39) noncoding transcript Het
Hspa12b C T 2: 130,983,778 (GRCm39) H293Y possibly damaging Het
Jakmip2 A G 18: 43,710,501 (GRCm39) V234A probably benign Het
Jkamp G A 12: 72,140,799 (GRCm39) V108I probably benign Het
Mettl23 T C 11: 116,739,126 (GRCm39) V72A possibly damaging Het
Morc2b T A 17: 33,355,375 (GRCm39) Y799F probably benign Het
Mtmr11 T A 3: 96,075,393 (GRCm39) C358S probably damaging Het
Myo18b G A 5: 112,840,261 (GRCm39) H2511Y possibly damaging Het
Mysm1 A G 4: 94,857,248 (GRCm39) V120A probably benign Het
Or12j3 G A 7: 139,952,857 (GRCm39) A222V probably benign Het
Or2ak6 T G 11: 58,593,277 (GRCm39) L250R probably damaging Het
Or7g35 C A 9: 19,495,854 (GRCm39) T7K probably damaging Het
Pard3 G A 8: 128,098,128 (GRCm39) A390T probably benign Het
Pcdhga1 T A 18: 37,796,605 (GRCm39) D536E probably damaging Het
Phactr3 G A 2: 177,924,982 (GRCm39) probably null Het
Pkn2 T C 3: 142,526,339 (GRCm39) N413D possibly damaging Het
Ppp1r12b T G 1: 134,709,846 (GRCm39) probably benign Het
Ptprf A G 4: 118,083,649 (GRCm39) probably null Het
Rab3gap1 T C 1: 127,865,304 (GRCm39) probably null Het
Rasa1 A G 13: 85,392,314 (GRCm39) Y407H probably damaging Het
Rfx7 A G 9: 72,499,051 (GRCm39) T72A possibly damaging Het
Slc27a1 A G 8: 72,037,617 (GRCm39) T535A probably benign Het
Stra6 G A 9: 58,050,309 (GRCm39) A237T probably benign Het
Tor1aip2 A G 1: 155,941,182 (GRCm39) E496G probably damaging Het
Usp47 A G 7: 111,707,836 (GRCm39) D1294G probably damaging Het
Utp20 A G 10: 88,643,187 (GRCm39) probably null Het
Vmn1r79 T A 7: 11,910,971 (GRCm39) C284* probably null Het
Zar1 T C 5: 72,737,736 (GRCm39) E121G possibly damaging Het
Zbtb40 C T 4: 136,745,860 (GRCm39) A58T probably benign Het
Zfhx3 A G 8: 109,518,952 (GRCm39) T25A probably damaging Het
Other mutations in Nhlrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01542:Nhlrc1 APN 13 47,167,607 (GRCm39) missense probably damaging 0.97
IGL01759:Nhlrc1 APN 13 47,167,438 (GRCm39) missense probably benign 0.00
R1540:Nhlrc1 UTSW 13 47,167,820 (GRCm39) missense probably damaging 1.00
R2116:Nhlrc1 UTSW 13 47,167,661 (GRCm39) missense probably benign 0.00
R4563:Nhlrc1 UTSW 13 47,167,666 (GRCm39) missense possibly damaging 0.67
R4975:Nhlrc1 UTSW 13 47,167,216 (GRCm39) missense probably benign 0.28
R5100:Nhlrc1 UTSW 13 47,167,897 (GRCm39) missense probably benign
R5671:Nhlrc1 UTSW 13 47,167,193 (GRCm39) missense probably benign 0.06
R5770:Nhlrc1 UTSW 13 47,168,188 (GRCm39) missense probably benign 0.22
R6476:Nhlrc1 UTSW 13 47,167,657 (GRCm39) missense possibly damaging 0.95
R6886:Nhlrc1 UTSW 13 47,167,252 (GRCm39) missense possibly damaging 0.94
R7223:Nhlrc1 UTSW 13 47,167,684 (GRCm39) missense probably benign 0.27
R8807:Nhlrc1 UTSW 13 47,167,990 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAATCAGCTGCATAGTGGAG -3'
(R):5'- ACGTGAAGTACCCACTGGATG -3'

Sequencing Primer
(F):5'- CTGCATAGTGGAGTTGAACACCTTC -3'
(R):5'- CAACGACTGCCATGTGGTTGTC -3'
Posted On 2015-06-12