Incidental Mutation 'IGL01308:Nkx2-4'
ID 73533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkx2-4
Ensembl Gene ENSMUSG00000054160
Gene Name NK2 homeobox 4
Synonyms Nkx-2.4, 1700001P03Rik, tinman
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # IGL01308
Quality Score
Status
Chromosome 2
Chromosomal Location 146925257-146927359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146926260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 201 (Y201H)
Ref Sequence ENSEMBL: ENSMUSP00000066690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067020]
AlphaFold Q9EQM3
Predicted Effect possibly damaging
Transcript: ENSMUST00000067020
AA Change: Y201H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066690
Gene: ENSMUSG00000054160
AA Change: Y201H

DomainStartEndE-ValueType
low complexity region 33 70 N/A INTRINSIC
low complexity region 127 142 N/A INTRINSIC
low complexity region 173 187 N/A INTRINSIC
HOX 188 250 9.05e-25 SMART
low complexity region 263 272 N/A INTRINSIC
low complexity region 290 342 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,748,997 (GRCm39) D1256G probably damaging Het
Acot7 A T 4: 152,345,353 (GRCm39) M308L probably benign Het
Adarb2 A G 13: 8,253,329 (GRCm39) R25G possibly damaging Het
Ano1 C A 7: 144,149,235 (GRCm39) Q875H probably damaging Het
Ano6 G A 15: 95,811,542 (GRCm39) probably null Het
Defa40 C T 8: 21,740,434 (GRCm39) T80I probably damaging Het
Efcab3 A T 11: 104,611,523 (GRCm39) D455V probably benign Het
Ehbp1 G A 11: 22,088,022 (GRCm39) P354L probably damaging Het
Eml5 T C 12: 98,768,572 (GRCm39) H1454R probably damaging Het
Esyt1 T A 10: 128,355,660 (GRCm39) N421Y possibly damaging Het
Gen1 T C 12: 11,306,871 (GRCm39) T100A probably damaging Het
Jak3 A T 8: 72,137,810 (GRCm39) D780V probably damaging Het
Klrb1a A G 6: 128,595,008 (GRCm39) probably benign Het
Lrp8 A G 4: 107,721,273 (GRCm39) I826M probably benign Het
Mcmbp G A 7: 128,316,209 (GRCm39) Q214* probably null Het
Mtmr7 A T 8: 41,050,388 (GRCm39) Y136N probably damaging Het
Ndor1 A G 2: 25,140,151 (GRCm39) Y88H probably benign Het
Or3a1d A G 11: 74,237,486 (GRCm39) L308P probably damaging Het
Or52n4b T A 7: 108,143,933 (GRCm39) L65* probably null Het
Or6c5 A T 10: 129,074,476 (GRCm39) T153S probably benign Het
Pigg T C 5: 108,484,343 (GRCm39) L663P probably damaging Het
Pik3cd A G 4: 149,741,917 (GRCm39) V343A probably damaging Het
Plekha4 A G 7: 45,187,659 (GRCm39) S244G probably damaging Het
Prkce T A 17: 86,932,890 (GRCm39) D623E probably damaging Het
Rasgrf2 A G 13: 92,159,425 (GRCm39) probably benign Het
Rexo5 T C 7: 119,433,499 (GRCm39) W419R probably damaging Het
Rnaseh2b A G 14: 62,602,706 (GRCm39) probably null Het
Rras A G 7: 44,670,709 (GRCm39) Y193C possibly damaging Het
Sall4 T C 2: 168,592,164 (GRCm39) I997V probably damaging Het
Sec31b A G 19: 44,512,122 (GRCm39) F591L probably benign Het
Skic2 A G 17: 35,059,610 (GRCm39) L232P probably benign Het
Slc13a3 A T 2: 165,248,700 (GRCm39) I526N probably damaging Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Snrnp25 A G 11: 32,158,745 (GRCm39) probably benign Het
Tex264 T C 9: 106,539,607 (GRCm39) K201E possibly damaging Het
Tgfb1 G T 7: 25,387,442 (GRCm39) R50L probably damaging Het
Tle4 A G 19: 14,445,625 (GRCm39) V207A probably benign Het
Tmed1 A T 9: 21,421,338 (GRCm39) C45* probably null Het
Tmem260 A G 14: 48,749,415 (GRCm39) N638S probably damaging Het
Traf3ip3 T C 1: 192,867,199 (GRCm39) E274G probably damaging Het
Trak1 T C 9: 121,272,802 (GRCm39) probably null Het
Trim3 A T 7: 105,266,676 (GRCm39) V502E probably damaging Het
Trmo C T 4: 46,377,053 (GRCm39) probably benign Het
Xab2 C T 8: 3,666,332 (GRCm39) R192Q probably benign Het
Other mutations in Nkx2-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01673:Nkx2-4 APN 2 146,925,834 (GRCm39) missense possibly damaging 0.88
R1135:Nkx2-4 UTSW 2 146,926,328 (GRCm39) nonsense probably null
R4437:Nkx2-4 UTSW 2 146,926,179 (GRCm39) missense possibly damaging 0.71
R4551:Nkx2-4 UTSW 2 146,926,842 (GRCm39) missense probably benign 0.06
R6647:Nkx2-4 UTSW 2 146,926,187 (GRCm39) missense possibly damaging 0.86
R6653:Nkx2-4 UTSW 2 146,925,860 (GRCm39) missense possibly damaging 0.93
R7479:Nkx2-4 UTSW 2 146,926,088 (GRCm39) missense probably benign 0.28
R7821:Nkx2-4 UTSW 2 146,927,208 (GRCm39) missense probably benign 0.03
R8255:Nkx2-4 UTSW 2 146,925,924 (GRCm39) nonsense probably null
R8831:Nkx2-4 UTSW 2 146,927,114 (GRCm39) missense probably benign
R9269:Nkx2-4 UTSW 2 146,926,184 (GRCm39) missense possibly damaging 0.71
Posted On 2013-10-07