Incidental Mutation 'R5671:Nhlrc1'
ID 442635
Institutional Source Beutler Lab
Gene Symbol Nhlrc1
Ensembl Gene ENSMUSG00000044231
Gene Name NHL repeat containing 1
Synonyms Malin, EPM2B, B230309E09Rik
MMRRC Submission 043314-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R5671 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 47166033-47168326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47167193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 355 (F355L)
Ref Sequence ENSEMBL: ENSMUSP00000054990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052747]
AlphaFold Q8BR37
Predicted Effect probably benign
Transcript: ENSMUST00000052747
AA Change: F355L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000054990
Gene: ENSMUSG00000044231
AA Change: F355L

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 0.5094 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (57/57)
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: 54 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
Ak2 T A 4: 128,902,040 (GRCm39) F238I probably damaging Het
Akap8l T C 17: 32,557,266 (GRCm39) Y115C probably damaging Het
Alms1 T A 6: 85,606,190 (GRCm39) N2613K possibly damaging Het
Antxr1 C T 6: 87,194,255 (GRCm39) probably null Het
Ap3b1 A T 13: 94,664,765 (GRCm39) R901S unknown Het
Arhgap45 A G 10: 79,861,310 (GRCm39) E491G probably damaging Het
Capn11 C T 17: 45,950,600 (GRCm39) R293Q possibly damaging Het
Cdx1 C T 18: 61,152,971 (GRCm39) V212I probably benign Het
Clca4b G A 3: 144,627,624 (GRCm39) T449I probably benign Het
Clec14a T C 12: 58,314,612 (GRCm39) I337V probably benign Het
Clip4 A C 17: 72,096,878 (GRCm39) M1L probably damaging Het
Exoc3l4 T C 12: 111,389,851 (GRCm39) I142T probably damaging Het
Flnb T A 14: 7,890,843 (GRCm38) I575N probably benign Het
Gad1-ps A T 10: 99,280,395 (GRCm39) noncoding transcript Het
Golga7 C T 8: 23,740,360 (GRCm39) A57T probably damaging Het
Gpa33 A G 1: 165,974,360 (GRCm39) T66A possibly damaging Het
Gpr141b A G 13: 19,913,465 (GRCm39) noncoding transcript Het
Gpr45 A G 1: 43,072,218 (GRCm39) Y287C probably damaging Het
H2-Eb1 C A 17: 34,533,229 (GRCm39) Y150* probably null Het
Hsd17b8 T C 17: 34,245,435 (GRCm39) D233G probably null Het
Ifna6 A T 4: 88,745,906 (GRCm39) Q85L probably damaging Het
Igkv9-120 G A 6: 68,027,257 (GRCm39) W57* probably null Het
Ivns1abp G T 1: 151,229,760 (GRCm39) L149F probably benign Het
Kank4 A G 4: 98,653,698 (GRCm39) probably null Het
Lama2 A T 10: 27,066,540 (GRCm39) C1114S probably damaging Het
Lmbr1l A C 15: 98,805,489 (GRCm39) D337E possibly damaging Het
Ly75 T C 2: 60,138,655 (GRCm39) D1404G probably damaging Het
Muc4 A G 16: 32,575,011 (GRCm39) T1199A probably benign Het
Nalcn A G 14: 123,532,818 (GRCm39) I1314T probably damaging Het
Or2y16 T C 11: 49,335,140 (GRCm39) V154A probably benign Het
Or4k39 C T 2: 111,238,818 (GRCm39) noncoding transcript Het
Or5b21 A T 19: 12,839,171 (GRCm39) T11S probably benign Het
Pcsk1 A G 13: 75,246,026 (GRCm39) T135A possibly damaging Het
Ptpru T A 4: 131,547,501 (GRCm39) Y112F possibly damaging Het
Rbbp8 A G 18: 11,875,699 (GRCm39) S871G probably benign Het
Rhoj A T 12: 75,440,743 (GRCm39) I135F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Semp2l2b T A 10: 21,942,742 (GRCm39) T413S possibly damaging Het
Ska1 G T 18: 74,330,067 (GRCm39) D224E probably damaging Het
Slc11a2 A G 15: 100,301,169 (GRCm39) Y295H probably damaging Het
Slc22a28 A T 19: 8,108,795 (GRCm39) C116S probably damaging Het
Synpo T C 18: 60,729,022 (GRCm39) D1060G probably damaging Het
Tectb T C 19: 55,181,059 (GRCm39) S310P probably benign Het
Tmc6 A G 11: 117,666,441 (GRCm39) S288P possibly damaging Het
Tpo A G 12: 30,169,490 (GRCm39) S82P probably benign Het
Ttyh3 T A 5: 140,617,307 (GRCm39) M321L probably benign Het
Usp8 A G 2: 126,584,345 (GRCm39) D518G probably benign Het
Vmn2r11 A G 5: 109,202,772 (GRCm39) W102R probably benign Het
Vps13a G A 19: 16,692,464 (GRCm39) H817Y probably benign Het
Vps51 A G 19: 6,118,224 (GRCm39) V757A probably benign Het
Washc4 T C 10: 83,405,892 (GRCm39) S463P probably damaging Het
Zfp423 T C 8: 88,508,955 (GRCm39) N442S 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
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
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'- TGGGTGAGACCAATTCACTCC -3'
(R):5'- TGGCTGTAACAACACAAGGG -3'

Sequencing Primer
(F):5'- ATGACACCAAGATTTCTGACTCCTGG -3'
(R):5'- GTGAAGGTGTTCAACTCCACTATGC -3'
Posted On 2016-11-09