Incidental Mutation 'IGL01640:Nhlrc3'
ID93119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhlrc3
Ensembl Gene ENSMUSG00000042997
Gene NameNHL repeat containing 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01640
Quality Score
Status
Chromosome3
Chromosomal Location53448583-53463332 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 53453537 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056749] [ENSMUST00000130348]
Predicted Effect probably benign
Transcript: ENSMUST00000056749
SMART Domains Protein: ENSMUSP00000055295
Gene: ENSMUSG00000042997

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:NHL 213 240 1.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129497
Predicted Effect probably benign
Transcript: ENSMUST00000130348
SMART Domains Protein: ENSMUSP00000114215
Gene: ENSMUSG00000042997

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132485
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,579,938 T3A probably damaging Het
4933402N03Rik A T 7: 131,139,119 S123T possibly damaging Het
Adamts17 A T 7: 67,029,680 T559S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Arel1 G A 12: 84,920,701 T783M probably damaging Het
B3gntl1 C T 11: 121,673,020 E5K probably benign Het
Faf1 T A 4: 109,840,403 F309I probably damaging Het
Fhod3 T G 18: 25,115,793 M1343R probably benign Het
Fnbp1 A G 2: 31,105,291 F44L probably damaging Het
Gm3633 A T 14: 42,638,367 Y206* probably null Het
Gprc6a A C 10: 51,627,084 F228V probably damaging Het
Il31ra T C 13: 112,531,758 I453V possibly damaging Het
Kif2a A G 13: 106,974,552 I529T probably damaging Het
Lrrc19 C T 4: 94,638,508 V271I probably damaging Het
Ncaph2 A G 15: 89,363,838 probably null Het
Nek5 A G 8: 22,120,840 I49T probably benign Het
Olfr616 A G 7: 103,565,021 V86A probably damaging Het
Olfr659 A T 7: 104,671,664 S321C probably damaging Het
Olfr945 C A 9: 39,258,263 M136I probably damaging Het
Pcnx2 T C 8: 125,801,558 T1308A probably benign Het
Pla2g6 T C 15: 79,304,313 N448S probably benign Het
Pole T A 5: 110,298,266 L571Q probably null Het
Rufy1 A G 11: 50,390,378 probably benign Het
Sftpd C A 14: 41,172,635 A276S probably benign Het
Slc35f4 A C 14: 49,318,768 V176G probably damaging Het
Snrpb T C 2: 130,175,331 D89G probably benign Het
Stab2 A T 10: 86,954,171 V577D probably benign Het
Synrg A C 11: 83,981,508 S152R probably damaging Het
Tcrg-V7 T C 13: 19,178,090 probably benign Het
Trpm1 A G 7: 64,226,897 E682G probably damaging Het
Unc80 T C 1: 66,679,585 I2989T probably benign Het
Vmn1r116 A G 7: 20,872,448 T65A probably benign Het
Zfp469 G A 8: 122,271,270 probably benign Het
Other mutations in Nhlrc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03113:Nhlrc3 APN 3 53458563 missense possibly damaging 0.86
PIT1430001:Nhlrc3 UTSW 3 53453629 missense probably damaging 1.00
R0486:Nhlrc3 UTSW 3 53452437 missense probably damaging 1.00
R0617:Nhlrc3 UTSW 3 53458623 missense probably damaging 1.00
R0783:Nhlrc3 UTSW 3 53462449 missense probably benign 0.04
R1423:Nhlrc3 UTSW 3 53462415 missense probably damaging 1.00
R1606:Nhlrc3 UTSW 3 53458657 nonsense probably null
R2105:Nhlrc3 UTSW 3 53453651 missense probably damaging 1.00
R2214:Nhlrc3 UTSW 3 53456454 missense probably damaging 1.00
R3802:Nhlrc3 UTSW 3 53458631 missense possibly damaging 0.68
R3804:Nhlrc3 UTSW 3 53458631 missense possibly damaging 0.68
R4656:Nhlrc3 UTSW 3 53463080 missense probably damaging 0.99
R4780:Nhlrc3 UTSW 3 53458567 missense probably benign 0.23
R5608:Nhlrc3 UTSW 3 53462311 critical splice donor site probably null
R6298:Nhlrc3 UTSW 3 53452523 missense possibly damaging 0.74
R6810:Nhlrc3 UTSW 3 53453575 missense probably benign 0.02
R7899:Nhlrc3 UTSW 3 53461659 missense probably benign 0.01
R7975:Nhlrc3 UTSW 3 53453545 missense probably damaging 1.00
Posted On2013-12-09