Incidental Mutation 'IGL01350:Nkx2-6'
ID 75325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkx2-6
Ensembl Gene ENSMUSG00000044186
Gene Name NK2 homeobox 6
Synonyms Nkx2.6, Tix, tinman, Nkx-2.6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01350
Quality Score
Status
Chromosome 14
Chromosomal Location 69409251-69412967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69412222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 130 (F130Y)
Ref Sequence ENSEMBL: ENSMUSP00000049898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062437]
AlphaFold P43688
Predicted Effect probably damaging
Transcript: ENSMUST00000062437
AA Change: F130Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049898
Gene: ENSMUSG00000044186
AA Change: F130Y

DomainStartEndE-ValueType
HOX 123 185 1.64e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172547
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 homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a targeted null allele are viable and fertile and develop normally, with no anomalies detected in the caudal pharyngeal pouch derivatives, heart or gut. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,187,208 (GRCm39) I926T probably benign Het
Adam39 T A 8: 41,278,876 (GRCm39) C422* probably null Het
Aldh1l1 A G 6: 90,536,338 (GRCm39) N81S probably damaging Het
Amd1 A T 10: 40,166,186 (GRCm39) Y264* probably null Het
Axl T C 7: 25,458,175 (GRCm39) Y851C probably damaging Het
Ccdc70 T C 8: 22,463,690 (GRCm39) L160P probably damaging Het
Cd2ap A T 17: 43,136,812 (GRCm39) Y273* probably null Het
Cyb5rl T C 4: 106,941,409 (GRCm39) V278A possibly damaging Het
Cyp2c29 T C 19: 39,318,771 (GRCm39) F417S probably damaging Het
Dnah7b C A 1: 46,120,592 (GRCm39) probably benign Het
Epha4 A T 1: 77,483,492 (GRCm39) D172E probably damaging Het
Eya4 T A 10: 22,989,873 (GRCm39) I495F possibly damaging Het
Gpr150 A T 13: 76,204,542 (GRCm39) H134Q probably benign Het
Gpr153 T G 4: 152,366,423 (GRCm39) probably benign Het
Hipk2 A G 6: 38,795,250 (GRCm39) Y333H probably damaging Het
Jakmip1 T C 5: 37,242,775 (GRCm39) M21T probably benign Het
Kcnh3 A T 15: 99,139,873 (GRCm39) I920F probably benign Het
Lrp2 G A 2: 69,341,328 (GRCm39) R951C probably damaging Het
Msi1 A G 5: 115,573,580 (GRCm39) K126R possibly damaging Het
Onecut2 T A 18: 64,474,160 (GRCm39) L218Q probably damaging Het
Or12j4 G T 7: 140,046,292 (GRCm39) M59I probably damaging Het
Or5p6 T C 7: 107,630,887 (GRCm39) Y221C probably damaging Het
Or8j3 A G 2: 86,028,149 (GRCm39) *316Q probably null Het
Pah T A 10: 87,414,221 (GRCm39) probably benign Het
Per2 C T 1: 91,358,583 (GRCm39) E602K probably damaging Het
Plb1 C T 5: 32,474,408 (GRCm39) T623M probably damaging Het
Prkaa2 T C 4: 104,909,109 (GRCm39) probably null Het
Prl7b1 T A 13: 27,786,804 (GRCm39) T142S probably damaging Het
Psd3 T C 8: 68,173,544 (GRCm39) H1090R probably damaging Het
Siglecf G T 7: 43,005,319 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,746 (GRCm39) V105A probably damaging Het
Thnsl1 T C 2: 21,217,011 (GRCm39) V255A probably benign Het
Tmprss5 T A 9: 49,020,757 (GRCm39) *84K probably null Het
Trrap C T 5: 144,767,779 (GRCm39) L2579F possibly damaging Het
Vdac1 A G 11: 52,276,489 (GRCm39) T211A probably benign Het
Vmn1r16 A T 6: 57,299,716 (GRCm39) V302D possibly damaging Het
Wdr75 T A 1: 45,857,420 (GRCm39) C572* probably null Het
Xpc A G 6: 91,476,993 (GRCm39) S369P probably benign Het
Zdhhc20 A G 14: 58,111,444 (GRCm39) V52A probably benign Het
Zfp977 T C 7: 42,230,090 (GRCm39) Y145C probably damaging Het
Other mutations in Nkx2-6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Nkx2-6 APN 14 69,409,326 (GRCm39) missense probably benign
FR4548:Nkx2-6 UTSW 14 69,412,678 (GRCm39) missense probably damaging 1.00
FR4976:Nkx2-6 UTSW 14 69,412,678 (GRCm39) missense probably damaging 1.00
R0583:Nkx2-6 UTSW 14 69,412,228 (GRCm39) missense probably damaging 1.00
R1670:Nkx2-6 UTSW 14 69,412,126 (GRCm39) missense probably benign 0.00
R2115:Nkx2-6 UTSW 14 69,409,288 (GRCm39) missense probably damaging 1.00
R3692:Nkx2-6 UTSW 14 69,409,476 (GRCm39) missense probably benign 0.09
R4624:Nkx2-6 UTSW 14 69,412,375 (GRCm39) missense probably damaging 1.00
R5189:Nkx2-6 UTSW 14 69,409,342 (GRCm39) missense probably benign 0.00
R5412:Nkx2-6 UTSW 14 69,412,195 (GRCm39) missense probably damaging 0.97
R5583:Nkx2-6 UTSW 14 69,409,272 (GRCm39) missense probably damaging 0.98
R6748:Nkx2-6 UTSW 14 69,412,555 (GRCm39) missense probably benign
R7487:Nkx2-6 UTSW 14 69,409,389 (GRCm39) missense probably benign 0.02
R8090:Nkx2-6 UTSW 14 69,409,465 (GRCm39) missense possibly damaging 0.85
R8351:Nkx2-6 UTSW 14 69,409,476 (GRCm39) missense probably benign 0.09
R8904:Nkx2-6 UTSW 14 69,409,420 (GRCm39) missense probably benign
R8906:Nkx2-6 UTSW 14 69,412,623 (GRCm39) missense probably benign 0.01
R9287:Nkx2-6 UTSW 14 69,412,404 (GRCm39) missense possibly damaging 0.67
Posted On 2013-10-07