Incidental Mutation 'IGL03113:Nhlrc3'
ID419277
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 #IGL03113
Quality Score
Status
Chromosome3
Chromosomal Location53448583-53463332 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 53458563 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 170 (Y170N)
Ref Sequence ENSEMBL: ENSMUSP00000055295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056749] [ENSMUST00000130348]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056749
AA Change: Y170N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055295
Gene: ENSMUSG00000042997
AA Change: Y170N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198983
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof G A 10: 128,269,699 V241M probably benign Het
Arhgef10 T A 8: 14,954,505 I91N probably damaging Het
Arhgef17 G A 7: 100,929,731 T670I probably benign Het
Barhl1 T C 2: 28,915,456 D75G probably benign Het
Capn13 T C 17: 73,331,113 T432A probably benign Het
Casd1 T A 6: 4,640,951 Y691N probably damaging Het
Ccdc175 C A 12: 72,144,783 V340L probably benign Het
Cdc5l A T 17: 45,433,422 M5K possibly damaging Het
Cgn A G 3: 94,779,234 F253L probably benign Het
Csmd1 T C 8: 16,028,698 K2003R probably benign Het
Disp2 T A 2: 118,790,778 probably null Het
Dnah7a T C 1: 53,433,004 N3535D possibly damaging Het
Exoc3 G A 13: 74,193,113 Q191* probably null Het
Fstl5 T A 3: 76,429,792 Y219* probably null Het
Gad2 T A 2: 22,681,355 L435Q probably benign Het
Gcnt3 A G 9: 70,034,701 V195A probably damaging Het
Haus6 G A 4: 86,583,106 Q843* probably null Het
Hivep2 T A 10: 14,130,651 F998I probably damaging Het
Hsf5 A T 11: 87,657,364 E624D probably benign Het
Klb A G 5: 65,383,470 N969D probably benign Het
Klhl6 T A 16: 19,957,251 S186C possibly damaging Het
Klk15 T C 7: 43,938,381 F78L probably benign Het
Ldlr A G 9: 21,739,828 E514G possibly damaging Het
Map9 T A 3: 82,359,978 probably benign Het
Miga2 A T 2: 30,384,010 I99F possibly damaging Het
Morc4 T C X: 139,857,856 E189G probably benign Het
Olfr1138 T C 2: 87,738,162 Q54R probably benign Het
Olfr1216 A G 2: 89,014,035 F10L probably damaging Het
Olfr1321 T A X: 49,727,062 N291Y probably damaging Het
Olfr401 G A 11: 74,121,703 R138Q probably benign Het
Olfr623 A T 7: 103,660,644 V202D possibly damaging Het
Olfr654 A T 7: 104,588,733 R310W probably benign Het
Olfr951 A C 9: 39,394,685 K295T probably damaging Het
Pkd1l1 G A 11: 8,834,793 T1997I probably benign Het
Poln A G 5: 34,116,862 S377P probably benign Het
Rab22a T A 2: 173,661,472 V26E probably damaging Het
Rhbdl3 T C 11: 80,353,613 V382A possibly damaging Het
Slitrk3 G T 3: 73,050,390 Q350K probably benign Het
Sult1d1 A T 5: 87,559,879 Y127* probably null Het
Vmn1r73 A T 7: 11,756,600 Y115F probably benign Het
Zfp128 T A 7: 12,890,387 D227E probably benign Het
Other mutations in Nhlrc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:Nhlrc3 APN 3 53453537 splice site probably benign
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 On2016-08-02