Incidental Mutation 'IGL01939:Nkx1-2'
ID 180788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkx1-2
Ensembl Gene ENSMUSG00000048528
Gene Name NK1 homeobox 2
Synonyms Sax1, Nkx-1.2, Nkx-1.1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL01939
Quality Score
Status
Chromosome 7
Chromosomal Location 132197968-132201366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132201203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 18 (I18N)
Ref Sequence ENSEMBL: ENSMUSP00000052778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054562] [ENSMUST00000124096]
AlphaFold P42580
Predicted Effect probably damaging
Transcript: ENSMUST00000054562
AA Change: I18N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052778
Gene: ENSMUSG00000048528
AA Change: I18N

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
low complexity region 88 96 N/A INTRINSIC
low complexity region 127 152 N/A INTRINSIC
HOX 156 218 7.24e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164986
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,885,925 (GRCm39) D22Y probably damaging Het
Ak7 T C 12: 105,701,183 (GRCm39) V242A probably benign Het
Cacna1b T C 2: 24,551,769 (GRCm39) N1127S probably damaging Het
Cacnb2 A T 2: 14,976,380 (GRCm39) H267L probably benign Het
Ces1b C T 8: 93,806,059 (GRCm39) G61R probably damaging Het
Cgnl1 T A 9: 71,632,286 (GRCm39) D355V probably damaging Het
Col24a1 T C 3: 145,021,005 (GRCm39) S459P probably damaging Het
Crygd T C 1: 65,101,185 (GRCm39) T137A probably benign Het
Dctn4 T A 18: 60,677,202 (GRCm39) M174K probably benign Het
Evi5 A G 5: 107,964,790 (GRCm39) probably benign Het
Fat2 T G 11: 55,174,806 (GRCm39) D1969A probably benign Het
Fcrl5 A T 3: 87,353,606 (GRCm39) E317V probably damaging Het
Foxf2 G T 13: 31,810,697 (GRCm39) S212I probably damaging Het
Gm21759 T A 5: 8,230,685 (GRCm39) probably benign Het
Gm5414 A G 15: 101,534,105 (GRCm39) probably benign Het
Gm7275 T C 16: 47,893,946 (GRCm39) noncoding transcript Het
Hspa9 T C 18: 35,071,761 (GRCm39) E613G possibly damaging Het
Il1rl1 A G 1: 40,501,168 (GRCm39) I515V possibly damaging Het
Ins1 G T 19: 52,253,173 (GRCm39) A38S probably damaging Het
Klhl31 A G 9: 77,562,488 (GRCm39) N418D probably benign Het
Magi3 T C 3: 103,961,778 (GRCm39) K417E probably damaging Het
Msh4 A G 3: 153,563,226 (GRCm39) Y823H probably damaging Het
Myo6 T A 9: 80,168,100 (GRCm39) D421E probably damaging Het
Myom3 T C 4: 135,492,900 (GRCm39) S150P possibly damaging Het
Nectin1 C T 9: 43,703,871 (GRCm39) probably benign Het
Or4s2b A G 2: 88,509,077 (GRCm39) T286A probably damaging Het
Or5b113 A T 19: 13,342,807 (GRCm39) I272F probably benign Het
Or8g33 A C 9: 39,337,634 (GRCm39) H244Q probably damaging Het
Or9g4 T C 2: 85,505,285 (GRCm39) D70G probably damaging Het
Pde8b T C 13: 95,232,232 (GRCm39) R237G probably damaging Het
Pp2d1 G A 17: 53,822,167 (GRCm39) L300F probably damaging Het
Ptpn21 A T 12: 98,655,420 (GRCm39) Y516N probably damaging Het
Ptprm T A 17: 67,370,158 (GRCm39) probably benign Het
Rabggtb A G 3: 153,617,650 (GRCm39) V16A probably damaging Het
Rangap1 A T 15: 81,604,864 (GRCm39) C82S probably damaging Het
Rasal2 T C 1: 157,003,480 (GRCm39) E393G probably damaging Het
Rasgrf1 A T 9: 89,856,889 (GRCm39) E449V probably damaging Het
Rrp12 A T 19: 41,859,334 (GRCm39) H1143Q probably damaging Het
Scap T C 9: 110,208,549 (GRCm39) I530T probably benign Het
Sel1l T A 12: 91,783,021 (GRCm39) Q482L probably damaging Het
Serpinb9b T C 13: 33,223,648 (GRCm39) M280T probably damaging Het
Slc39a10 T A 1: 46,871,895 (GRCm39) H348L probably benign Het
Slc7a2 T C 8: 41,367,120 (GRCm39) L542P possibly damaging Het
Tas1r2 A T 4: 139,396,488 (GRCm39) Q609L probably damaging Het
Tbc1d14 A T 5: 36,665,781 (GRCm39) probably benign Het
Tfb2m A G 1: 179,365,262 (GRCm39) probably null Het
Tpo T C 12: 30,134,646 (GRCm39) T771A possibly damaging Het
Tpr G A 1: 150,289,496 (GRCm39) R609H possibly damaging Het
Usp34 T A 11: 23,295,141 (GRCm39) probably benign Het
Vmn1r193 G T 13: 22,403,893 (GRCm39) S33* probably null Het
Vmn2r104 A C 17: 20,250,187 (GRCm39) S695A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r24 A G 6: 123,764,404 (GRCm39) D427G probably benign Het
Zfp362 A G 4: 128,680,846 (GRCm39) S160P probably benign Het
Other mutations in Nkx1-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0894:Nkx1-2 UTSW 7 132,201,042 (GRCm39) missense probably null 0.98
R3782:Nkx1-2 UTSW 7 132,199,161 (GRCm39) missense probably damaging 1.00
R4248:Nkx1-2 UTSW 7 132,201,209 (GRCm39) frame shift probably null
R6376:Nkx1-2 UTSW 7 132,201,240 (GRCm39) missense probably damaging 0.98
R7589:Nkx1-2 UTSW 7 132,201,204 (GRCm39) missense probably damaging 0.99
R9656:Nkx1-2 UTSW 7 132,201,228 (GRCm39) nonsense probably null
R9767:Nkx1-2 UTSW 7 132,199,402 (GRCm39) missense probably benign 0.03
Z1177:Nkx1-2 UTSW 7 132,201,150 (GRCm39) missense probably benign 0.07
Z1177:Nkx1-2 UTSW 7 132,199,351 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07