Incidental Mutation 'IGL03113:Nhlrc3'
ID 419277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhlrc3
Ensembl Gene ENSMUSG00000042997
Gene Name NHL repeat containing 3
Synonyms 8030451K01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03113
Quality Score
Status
Chromosome 3
Chromosomal Location 53359417-53370679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53365984 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8CCH2
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: 128,105,568 (GRCm39) V241M probably benign Het
Arhgef10 T A 8: 15,004,505 (GRCm39) I91N probably damaging Het
Arhgef17 G A 7: 100,578,938 (GRCm39) T670I probably benign Het
Barhl1 T C 2: 28,805,468 (GRCm39) D75G probably benign Het
Capn13 T C 17: 73,638,108 (GRCm39) T432A probably benign Het
Casd1 T A 6: 4,640,951 (GRCm39) Y691N probably damaging Het
Ccdc175 C A 12: 72,191,557 (GRCm39) V340L probably benign Het
Cdc5l A T 17: 45,744,348 (GRCm39) M5K possibly damaging Het
Cgn A G 3: 94,686,544 (GRCm39) F253L probably benign Het
Csmd1 T C 8: 16,078,712 (GRCm39) K2003R probably benign Het
Disp2 T A 2: 118,621,259 (GRCm39) probably null Het
Dnah7a T C 1: 53,472,163 (GRCm39) N3535D possibly damaging Het
Exoc3 G A 13: 74,341,232 (GRCm39) Q191* probably null Het
Fstl5 T A 3: 76,337,099 (GRCm39) Y219* probably null Het
Gad2 T A 2: 22,571,367 (GRCm39) L435Q probably benign Het
Gcnt3 A G 9: 69,941,983 (GRCm39) V195A probably damaging Het
Haus6 G A 4: 86,501,343 (GRCm39) Q843* probably null Het
Hivep2 T A 10: 14,006,395 (GRCm39) F998I probably damaging Het
Hsf5 A T 11: 87,548,190 (GRCm39) E624D probably benign Het
Klb A G 5: 65,540,813 (GRCm39) N969D probably benign Het
Klhl6 T A 16: 19,776,001 (GRCm39) S186C possibly damaging Het
Klk15 T C 7: 43,587,805 (GRCm39) F78L probably benign Het
Ldlr A G 9: 21,651,124 (GRCm39) E514G possibly damaging Het
Map9 T A 3: 82,267,285 (GRCm39) probably benign Het
Miga2 A T 2: 30,274,022 (GRCm39) I99F possibly damaging Het
Morc4 T C X: 138,758,605 (GRCm39) E189G probably benign Het
Or3a1b G A 11: 74,012,529 (GRCm39) R138Q probably benign Het
Or4c111 A G 2: 88,844,379 (GRCm39) F10L probably damaging Het
Or51b6b A T 7: 103,309,851 (GRCm39) V202D possibly damaging Het
Or52u1 A T 7: 104,237,940 (GRCm39) R310W probably benign Het
Or5o1 T A X: 48,815,939 (GRCm39) N291Y probably damaging Het
Or5w15 T C 2: 87,568,506 (GRCm39) Q54R probably benign Het
Or8g32 A C 9: 39,305,981 (GRCm39) K295T probably damaging Het
Pkd1l1 G A 11: 8,784,793 (GRCm39) T1997I probably benign Het
Poln A G 5: 34,274,206 (GRCm39) S377P probably benign Het
Rab22a T A 2: 173,503,265 (GRCm39) V26E probably damaging Het
Rhbdl3 T C 11: 80,244,439 (GRCm39) V382A possibly damaging Het
Slitrk3 G T 3: 72,957,723 (GRCm39) Q350K probably benign Het
Sult1d1 A T 5: 87,707,738 (GRCm39) Y127* probably null Het
Vmn1r73 A T 7: 11,490,527 (GRCm39) Y115F probably benign Het
Zfp128 T A 7: 12,624,314 (GRCm39) D227E probably benign Het
Other mutations in Nhlrc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:Nhlrc3 APN 3 53,360,958 (GRCm39) splice site probably benign
PIT1430001:Nhlrc3 UTSW 3 53,361,050 (GRCm39) missense probably damaging 1.00
R0486:Nhlrc3 UTSW 3 53,359,858 (GRCm39) missense probably damaging 1.00
R0617:Nhlrc3 UTSW 3 53,366,044 (GRCm39) missense probably damaging 1.00
R0783:Nhlrc3 UTSW 3 53,369,870 (GRCm39) missense probably benign 0.04
R1423:Nhlrc3 UTSW 3 53,369,836 (GRCm39) missense probably damaging 1.00
R1606:Nhlrc3 UTSW 3 53,366,078 (GRCm39) nonsense probably null
R2105:Nhlrc3 UTSW 3 53,361,072 (GRCm39) missense probably damaging 1.00
R2214:Nhlrc3 UTSW 3 53,363,875 (GRCm39) missense probably damaging 1.00
R3802:Nhlrc3 UTSW 3 53,366,052 (GRCm39) missense possibly damaging 0.68
R3804:Nhlrc3 UTSW 3 53,366,052 (GRCm39) missense possibly damaging 0.68
R4656:Nhlrc3 UTSW 3 53,370,501 (GRCm39) missense probably damaging 0.99
R4780:Nhlrc3 UTSW 3 53,365,988 (GRCm39) missense probably benign 0.23
R5608:Nhlrc3 UTSW 3 53,369,732 (GRCm39) critical splice donor site probably null
R6298:Nhlrc3 UTSW 3 53,359,944 (GRCm39) missense possibly damaging 0.74
R6810:Nhlrc3 UTSW 3 53,360,996 (GRCm39) missense probably benign 0.02
R7899:Nhlrc3 UTSW 3 53,369,080 (GRCm39) missense probably benign 0.01
R7975:Nhlrc3 UTSW 3 53,360,966 (GRCm39) missense probably damaging 1.00
R9028:Nhlrc3 UTSW 3 53,360,992 (GRCm39) nonsense probably null
R9375:Nhlrc3 UTSW 3 53,369,190 (GRCm39) missense possibly damaging 0.56
R9385:Nhlrc3 UTSW 3 53,361,015 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02