Incidental Mutation 'IGL01524:Nhlrc2'
ID 89521
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhlrc2
Ensembl Gene ENSMUSG00000025078
Gene Name NHL repeat containing 2
Synonyms 1200003G01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01524
Quality Score
Status
Chromosome 19
Chromosomal Location 56536693-56591935 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56564587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 304 (I304V)
Ref Sequence ENSEMBL: ENSMUSP00000071370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071423]
AlphaFold Q8BZW8
Predicted Effect probably benign
Transcript: ENSMUST00000071423
AA Change: I304V

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: I304V

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A T 8: 60,969,106 (GRCm39) D117V probably damaging Het
Abca14 T C 7: 119,852,644 (GRCm39) Y870H possibly damaging Het
Ankrd36 T C 11: 5,585,092 (GRCm39) I301T probably benign Het
Atp10b T A 11: 43,150,672 (GRCm39) S1457T probably benign Het
Bltp1 A G 3: 36,996,531 (GRCm39) D1081G possibly damaging Het
Ccdc175 G A 12: 72,177,916 (GRCm39) probably benign Het
Ccdc93 A G 1: 121,389,628 (GRCm39) K224E probably benign Het
Cep131 C T 11: 119,956,786 (GRCm39) A886T probably damaging Het
Clip1 A C 5: 123,717,442 (GRCm39) H1282Q probably damaging Het
Ctcfl T G 2: 172,959,177 (GRCm39) D183A probably benign Het
Cyp17a1 C T 19: 46,659,495 (GRCm39) V112I probably benign Het
Fhod3 T C 18: 25,263,659 (GRCm39) I1521T probably damaging Het
Gipc2 A G 3: 151,843,214 (GRCm39) I141T probably damaging Het
Glo1 T C 17: 30,815,393 (GRCm39) R141G possibly damaging Het
Ipmk C A 10: 71,208,631 (GRCm39) A140E probably damaging Het
Kynu A G 2: 43,561,394 (GRCm39) D310G possibly damaging Het
Myo1f T A 17: 33,798,857 (GRCm39) I174N probably damaging Het
Nat10 T A 2: 103,588,102 (GRCm39) N8Y probably damaging Het
Pdk4 T C 6: 5,491,979 (GRCm39) H31R probably damaging Het
Sema6d T C 2: 124,505,995 (GRCm39) V644A possibly damaging Het
Slc30a4 T A 2: 122,544,308 (GRCm39) K11N possibly damaging Het
Slc6a3 T C 13: 73,686,668 (GRCm39) S12P probably benign Het
Spats2 C T 15: 99,110,127 (GRCm39) A508V probably benign Het
Tinag A G 9: 76,952,820 (GRCm39) Y55H probably damaging Het
Topbp1 T C 9: 103,188,844 (GRCm39) I172T possibly damaging Het
Trim17 A G 11: 58,861,423 (GRCm39) T279A probably damaging Het
Vmn1r216 C A 13: 23,283,519 (GRCm39) N67K probably benign Het
Washc4 T C 10: 83,411,996 (GRCm39) L709P probably benign Het
Xdh T C 17: 74,230,132 (GRCm39) probably null Het
Zfhx4 C T 3: 5,309,036 (GRCm39) P754L probably damaging Het
Zfp267 T C 3: 36,218,729 (GRCm39) Y251H possibly damaging Het
Zfp623 C A 15: 75,819,528 (GRCm39) S161R probably benign Het
Zmat3 G A 3: 32,395,827 (GRCm39) R227C possibly damaging Het
Other mutations in Nhlrc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Nhlrc2 APN 19 56,540,231 (GRCm39) nonsense probably null
IGL01570:Nhlrc2 APN 19 56,563,219 (GRCm39) missense possibly damaging 0.87
IGL01653:Nhlrc2 APN 19 56,559,282 (GRCm39) missense probably benign 0.25
IGL02256:Nhlrc2 APN 19 56,585,793 (GRCm39) missense probably benign 0.10
IGL02303:Nhlrc2 APN 19 56,563,280 (GRCm39) missense probably damaging 1.00
IGL02349:Nhlrc2 APN 19 56,580,151 (GRCm39) missense possibly damaging 0.94
IGL02501:Nhlrc2 APN 19 56,559,086 (GRCm39) nonsense probably null
R0270:Nhlrc2 UTSW 19 56,540,302 (GRCm39) missense probably damaging 1.00
R0454:Nhlrc2 UTSW 19 56,558,959 (GRCm39) missense probably damaging 1.00
R2022:Nhlrc2 UTSW 19 56,585,710 (GRCm39) missense probably benign 0.06
R3854:Nhlrc2 UTSW 19 56,576,703 (GRCm39) critical splice donor site probably null
R3855:Nhlrc2 UTSW 19 56,576,703 (GRCm39) critical splice donor site probably null
R3856:Nhlrc2 UTSW 19 56,576,703 (GRCm39) critical splice donor site probably null
R4659:Nhlrc2 UTSW 19 56,564,699 (GRCm39) missense possibly damaging 0.86
R4767:Nhlrc2 UTSW 19 56,558,898 (GRCm39) missense probably benign 0.03
R4992:Nhlrc2 UTSW 19 56,558,966 (GRCm39) missense probably benign 0.00
R5877:Nhlrc2 UTSW 19 56,559,016 (GRCm39) missense probably damaging 1.00
R6191:Nhlrc2 UTSW 19 56,559,291 (GRCm39) missense probably benign 0.00
R6755:Nhlrc2 UTSW 19 56,580,216 (GRCm39) missense probably benign 0.12
R7164:Nhlrc2 UTSW 19 56,580,931 (GRCm39) missense probably damaging 1.00
R7507:Nhlrc2 UTSW 19 56,585,810 (GRCm39) missense not run
R7609:Nhlrc2 UTSW 19 56,583,328 (GRCm39) missense probably benign
R8811:Nhlrc2 UTSW 19 56,583,344 (GRCm39) missense probably benign 0.03
R8849:Nhlrc2 UTSW 19 56,580,184 (GRCm39) missense possibly damaging 0.72
Posted On 2013-12-03