Incidental Mutation 'R6886:Nhlrc1'
ID 536972
Institutional Source Beutler Lab
Gene Symbol Nhlrc1
Ensembl Gene ENSMUSG00000044231
Gene Name NHL repeat containing 1
Synonyms Malin, EPM2B, B230309E09Rik
MMRRC Submission 044980-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R6886 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 47166033-47168326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47167252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 335 (N335I)
Ref Sequence ENSEMBL: ENSMUSP00000054990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052747]
AlphaFold Q8BR37
Predicted Effect possibly damaging
Transcript: ENSMUST00000052747
AA Change: N335I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054990
Gene: ENSMUSG00000044231
AA Change: N335I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,518,706 (GRCm39) M44K probably benign Het
Bad T C 19: 6,928,702 (GRCm39) probably benign Het
Bbs12 A G 3: 37,373,390 (GRCm39) D61G probably damaging Het
Bcr C T 10: 74,989,769 (GRCm39) R722C probably damaging Het
Carf C A 1: 60,175,413 (GRCm39) probably null Het
Ccdc181 A G 1: 164,107,665 (GRCm39) E116G probably damaging Het
Celsr1 A G 15: 85,915,855 (GRCm39) V706A probably benign Het
Col9a1 T A 1: 24,224,426 (GRCm39) S203T unknown Het
Ctsl T C 13: 64,512,961 (GRCm39) probably null Het
Exosc7 A T 9: 122,965,023 (GRCm39) E277D probably benign Het
Fam20b A T 1: 156,518,081 (GRCm39) W238R probably damaging Het
Fanci A T 7: 79,070,090 (GRCm39) H430L possibly damaging Het
Fstl4 A G 11: 53,077,277 (GRCm39) D678G probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gm11569 T A 11: 99,689,247 (GRCm39) probably benign Het
Igfn1 G A 1: 135,901,198 (GRCm39) R306W probably damaging Het
Il6 C T 5: 30,223,201 (GRCm39) probably benign Het
Khdc1c T C 1: 21,439,749 (GRCm39) L100P possibly damaging Het
Kif18a G A 2: 109,127,008 (GRCm39) R314H probably damaging Het
Kif26b A C 1: 178,701,703 (GRCm39) K694T probably damaging Het
Kndc1 A G 7: 139,493,485 (GRCm39) T484A probably benign Het
Lonrf1 T C 8: 36,696,191 (GRCm39) probably null Het
Man1a2 C T 3: 100,563,387 (GRCm39) G169D probably benign Het
Med6 G T 12: 81,638,159 (GRCm39) D17E probably damaging Het
Neb T C 2: 52,110,236 (GRCm39) K204R probably damaging Het
Nlrp12 T C 7: 3,289,313 (GRCm39) M400V probably benign Het
Or7e173 G T 9: 19,938,428 (GRCm39) H269N probably benign Het
Or8k22 A T 2: 86,163,408 (GRCm39) C97* probably null Het
Pkhd1 C T 1: 20,417,504 (GRCm39) S2549N probably benign Het
Pramel26 A G 4: 143,539,332 (GRCm39) F54L probably benign Het
Rab4b A C 7: 26,872,381 (GRCm39) L145R probably damaging Het
Rad50 T C 11: 53,577,011 (GRCm39) I526V probably benign Het
Rel T C 11: 23,694,304 (GRCm39) H309R probably benign Het
Rnf2 G T 1: 151,349,017 (GRCm39) N34K possibly damaging Het
Serpina3m G T 12: 104,355,386 (GRCm39) V18F possibly damaging Het
Serpinb9c T C 13: 33,334,310 (GRCm39) K244R probably benign Het
Setbp1 T A 18: 78,900,715 (GRCm39) Y984F probably damaging Het
Slc12a5 T A 2: 164,824,825 (GRCm39) M410K probably benign Het
Smarca4 C T 9: 21,570,127 (GRCm39) A710V probably damaging Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Ssrp1 T A 2: 84,870,280 (GRCm39) D101E probably benign Het
Tax1bp1 A T 6: 52,710,208 (GRCm39) E162D probably benign Het
Tenm4 T A 7: 96,446,599 (GRCm39) M823K possibly damaging Het
Tesk1 A G 4: 43,443,592 (GRCm39) D53G possibly damaging Het
Tnrc6a T A 7: 122,786,668 (GRCm39) S1577T probably benign Het
Tpr A G 1: 150,299,716 (GRCm39) I1270V probably benign Het
Trp53bp2 T C 1: 182,256,608 (GRCm39) probably null Het
Ube4a A T 9: 44,860,141 (GRCm39) I307N probably damaging Het
Unc13b A G 4: 43,170,156 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,166,927 (GRCm39) K735E probably damaging Het
Vmn2r54 A G 7: 12,366,080 (GRCm39) F285L probably benign Het
Vmn2r81 T G 10: 79,103,988 (GRCm39) S204A possibly damaging Het
Washc1 A G 17: 66,426,061 (GRCm39) D453G probably damaging Het
Zfp329 T A 7: 12,544,025 (GRCm39) I500L probably benign Het
Zfp516 A G 18: 82,975,125 (GRCm39) D441G probably benign Het
Zfp644 T C 5: 106,785,777 (GRCm39) T257A possibly 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
R4243:Nhlrc1 UTSW 13 47,167,502 (GRCm39) missense probably benign 0.06
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
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'- AAGATTTCTGACTCCTGGCTTCAG -3'
(R):5'- GTCCTAGAGCATCCTTGTGC -3'

Sequencing Primer
(F):5'- GGCTTCAGGATCCCCATCAC -3'
(R):5'- AGAGCATCCTTGTGCCTTTG -3'
Posted On 2018-10-18