Incidental Mutation 'IGL02501:Nhlrc2'
ID 296062
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhlrc2
Ensembl Gene ENSMUSG00000025078
Gene Name NHL repeat containing 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02501
Quality Score
Status
Chromosome 19
Chromosomal Location 56548261-56598846 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 56570654 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 190 (Y190*)
Ref Sequence ENSEMBL: ENSMUSP00000071370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071423]
AlphaFold Q8BZW8
Predicted Effect probably null
Transcript: ENSMUST00000071423
AA Change: Y190*
SMART Domains Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: Y190*

DomainStartEndE-ValueType
Pfam:Thioredoxin_8 78 174 2.7e-14 PFAM
LY 216 258 8.44e0 SMART
Pfam:NHL 278 304 2.3e-9 PFAM
low complexity region 321 331 N/A INTRINSIC
Blast:LY 402 446 5e-8 BLAST
LY 467 509 1.91e0 SMART
Pfam:NHL 530 558 1.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,083,340 (GRCm38) I307F probably damaging Het
Adam15 G A 3: 89,340,462 (GRCm38) A789V possibly damaging Het
Bspry A G 4: 62,496,435 (GRCm38) T422A probably benign Het
Btnl6 T A 17: 34,515,674 (GRCm38) D38V possibly damaging Het
Cd59b G A 2: 104,078,928 (GRCm38) C18Y probably damaging Het
Clstn1 T G 4: 149,631,842 (GRCm38) I255R probably damaging Het
Dpp10 A G 1: 123,686,270 (GRCm38) L99P possibly damaging Het
Efr3b C T 12: 3,983,391 (GRCm38) V139I probably benign Het
Emc1 A T 4: 139,370,984 (GRCm38) T759S probably benign Het
Fam126b C A 1: 58,540,191 (GRCm38) R229L probably damaging Het
Fndc1 C T 17: 7,765,398 (GRCm38) G1232E unknown Het
Gjb3 C T 4: 127,326,364 (GRCm38) G125D probably damaging Het
Helb A G 10: 120,102,788 (GRCm38) S594P possibly damaging Het
Ildr1 T C 16: 36,722,350 (GRCm38) S371P probably damaging Het
Kif1b T A 4: 149,214,976 (GRCm38) R946W probably damaging Het
Lrp12 T C 15: 39,877,904 (GRCm38) T472A probably damaging Het
Lyst A G 13: 13,711,645 (GRCm38) D3031G probably benign Het
Med12l A T 3: 59,261,976 (GRCm38) T1596S possibly damaging Het
Myom1 A C 17: 71,072,081 (GRCm38) probably null Het
Nol4 A T 18: 22,823,341 (GRCm38) N115K probably damaging Het
Nrg1 T A 8: 31,818,263 (GRCm38) probably null Het
Olfr844 T A 9: 19,318,703 (GRCm38) H56Q probably damaging Het
Oxld1 A C 11: 120,456,888 (GRCm38) L161R probably damaging Het
Phex A G X: 157,186,275 (GRCm38) S568P probably damaging Het
Pkd1 T G 17: 24,569,699 (GRCm38) S810R probably benign Het
Plin2 G T 4: 86,664,486 (GRCm38) C84* probably null Het
Ppfia3 A T 7: 45,354,938 (GRCm38) probably benign Het
Ptpn14 A G 1: 189,850,390 (GRCm38) N478S probably benign Het
Pygl A G 12: 70,191,134 (GRCm38) M801T probably benign Het
Recql5 A G 11: 115,895,091 (GRCm38) Y619H probably benign Het
Scn3a C A 2: 65,526,555 (GRCm38) D182Y possibly damaging Het
Serpinb6e T C 13: 33,832,802 (GRCm38) E316G possibly damaging Het
Shroom4 A G X: 6,583,944 (GRCm38) E386G possibly damaging Het
Slc4a2 A G 5: 24,429,434 (GRCm38) S24G probably benign Het
Slc4a4 A G 5: 89,129,649 (GRCm38) I282V probably benign Het
Slc8b1 C T 5: 120,520,853 (GRCm38) R148C probably damaging Het
Stag2 A G X: 42,271,325 (GRCm38) probably benign Het
Styx T A 14: 45,372,465 (GRCm38) H195Q probably benign Het
Sufu A G 19: 46,450,910 (GRCm38) I190V probably benign Het
Svep1 A G 4: 58,145,341 (GRCm38) probably benign Het
Tbc1d31 T C 15: 57,937,948 (GRCm38) I293T probably benign Het
Timp4 T A 6: 115,246,483 (GRCm38) I160F probably damaging Het
Tmem87a A T 2: 120,404,053 (GRCm38) V3E probably damaging Het
Utp4 T A 8: 106,906,241 (GRCm38) H285Q probably benign Het
Vrk1 T G 12: 106,062,653 (GRCm38) S305A probably benign Het
Zfp329 G T 7: 12,811,179 (GRCm38) H139Q possibly damaging Het
Other mutations in Nhlrc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Nhlrc2 APN 19 56,551,799 (GRCm38) nonsense probably null
IGL01524:Nhlrc2 APN 19 56,576,155 (GRCm38) missense probably benign 0.39
IGL01570:Nhlrc2 APN 19 56,574,787 (GRCm38) missense possibly damaging 0.87
IGL01653:Nhlrc2 APN 19 56,570,850 (GRCm38) missense probably benign 0.25
IGL02256:Nhlrc2 APN 19 56,597,361 (GRCm38) missense probably benign 0.10
IGL02303:Nhlrc2 APN 19 56,574,848 (GRCm38) missense probably damaging 1.00
IGL02349:Nhlrc2 APN 19 56,591,719 (GRCm38) missense possibly damaging 0.94
R0270:Nhlrc2 UTSW 19 56,551,870 (GRCm38) missense probably damaging 1.00
R0454:Nhlrc2 UTSW 19 56,570,527 (GRCm38) missense probably damaging 1.00
R2022:Nhlrc2 UTSW 19 56,597,278 (GRCm38) missense probably benign 0.06
R3854:Nhlrc2 UTSW 19 56,588,271 (GRCm38) critical splice donor site probably null
R3855:Nhlrc2 UTSW 19 56,588,271 (GRCm38) critical splice donor site probably null
R3856:Nhlrc2 UTSW 19 56,588,271 (GRCm38) critical splice donor site probably null
R4659:Nhlrc2 UTSW 19 56,576,267 (GRCm38) missense possibly damaging 0.86
R4767:Nhlrc2 UTSW 19 56,570,466 (GRCm38) missense probably benign 0.03
R4992:Nhlrc2 UTSW 19 56,570,534 (GRCm38) missense probably benign 0.00
R5877:Nhlrc2 UTSW 19 56,570,584 (GRCm38) missense probably damaging 1.00
R6191:Nhlrc2 UTSW 19 56,570,859 (GRCm38) missense probably benign 0.00
R6755:Nhlrc2 UTSW 19 56,591,784 (GRCm38) missense probably benign 0.12
R7164:Nhlrc2 UTSW 19 56,592,499 (GRCm38) missense probably damaging 1.00
R7507:Nhlrc2 UTSW 19 56,597,378 (GRCm38) missense not run
R7609:Nhlrc2 UTSW 19 56,594,896 (GRCm38) missense probably benign
R8811:Nhlrc2 UTSW 19 56,594,912 (GRCm38) missense probably benign 0.03
R8849:Nhlrc2 UTSW 19 56,591,752 (GRCm38) missense possibly damaging 0.72
Posted On 2015-04-16