Incidental Mutation 'R6322:Nkx1-1'
ID 510147
Institutional Source Beutler Lab
Gene Symbol Nkx1-1
Ensembl Gene ENSMUSG00000029112
Gene Name NK1 homeobox 1
Synonyms Nkx-1.1, Sax2
MMRRC Submission 044476-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.861) question?
Stock # R6322 (G1)
Quality Score 108.008
Status Validated
Chromosome 5
Chromosomal Location 33588078-33591320 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33588389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 300 (N300D)
Ref Sequence ENSEMBL: ENSMUSP00000133620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173348]
AlphaFold G3UXB3
Predicted Effect probably damaging
Transcript: ENSMUST00000173348
AA Change: N300D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133620
Gene: ENSMUSG00000029112
AA Change: N300D

DomainStartEndE-ValueType
low complexity region 24 42 N/A INTRINSIC
low complexity region 68 88 N/A INTRINSIC
low complexity region 94 120 N/A INTRINSIC
low complexity region 146 160 N/A INTRINSIC
low complexity region 166 187 N/A INTRINSIC
low complexity region 199 231 N/A INTRINSIC
HOX 250 312 2.74e-24 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 98% (51/52)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene show poor growth and survival. Most die within the first three weeks of life. Those that reach adulthood are fertile but do not produce viable offspring. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,559,843 (GRCm39) V211A probably benign Het
Adora3 G A 3: 105,814,760 (GRCm39) R170H probably benign Het
Aldh1l1 T C 6: 90,539,680 (GRCm39) I203T probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Atcay A T 10: 81,049,125 (GRCm39) I159K probably damaging Het
Blvra A G 2: 126,922,459 (GRCm39) probably benign Het
Catspere2 T A 1: 177,845,296 (GRCm39) Y105* probably null Het
Celsr2 A G 3: 108,319,890 (GRCm39) F974S probably damaging Het
Cfap44 C T 16: 44,254,029 (GRCm39) R918* probably null Het
Cpa6 T A 1: 10,547,346 (GRCm39) R181S possibly damaging Het
Dlg1 A G 16: 31,675,297 (GRCm39) N730D probably damaging Het
Eif2ak1 A G 5: 143,835,913 (GRCm39) T535A probably benign Het
Fam13c A T 10: 70,334,721 (GRCm39) D149V probably damaging Het
Fam171a1 G A 2: 3,227,392 (GRCm39) V717I probably benign Het
Fchsd1 A G 18: 38,098,753 (GRCm39) V290A probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm15446 A T 5: 110,091,383 (GRCm39) H545L probably damaging Het
Heatr9 T G 11: 83,407,538 (GRCm39) K215T possibly damaging Het
Hfe T A 13: 23,889,879 (GRCm39) H210L probably damaging Het
Lama2 T C 10: 27,066,543 (GRCm39) T1113A probably damaging Het
Lipe A T 7: 25,079,961 (GRCm39) V686E probably damaging Het
Map3k20 T G 2: 72,263,814 (GRCm39) L488V possibly damaging Het
Moxd1 C T 10: 24,160,709 (GRCm39) T454I probably damaging Het
Mrpl58 C T 11: 115,301,492 (GRCm39) R189* probably null Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nrm A T 17: 36,175,605 (GRCm39) Q237L possibly damaging Het
Numa1 T C 7: 101,650,127 (GRCm39) L1286P probably damaging Het
Or4f4-ps1 T C 2: 111,329,729 (GRCm39) F44S possibly damaging Het
Pappa C A 4: 65,232,896 (GRCm39) A1345D probably damaging Het
Pds5a T C 5: 65,854,177 (GRCm39) I22V probably benign Het
Phf21b C A 15: 84,671,580 (GRCm39) R438L possibly damaging Het
Pik3r5 T C 11: 68,383,567 (GRCm39) L462P probably benign Het
Plagl2 T C 2: 153,073,806 (GRCm39) E365G probably benign Het
Plxna2 A G 1: 194,436,675 (GRCm39) Y677C possibly damaging Het
Pramel13 A G 4: 144,119,475 (GRCm39) M364T probably benign Het
Prkcd C A 14: 30,321,620 (GRCm39) G410W probably damaging Het
Rgl1 T C 1: 152,428,186 (GRCm39) I348V probably damaging Het
Rnmt C T 18: 68,452,285 (GRCm39) P386S probably damaging Het
Rtn3 G A 19: 7,435,503 (GRCm39) P163L possibly damaging Het
Sfxn1 T C 13: 54,258,869 (GRCm39) C275R possibly damaging Het
Sh2b2 A G 5: 136,253,042 (GRCm39) S377P probably damaging Het
Sh3bp1 C T 15: 78,795,715 (GRCm39) P615S probably damaging Het
Simc1 T C 13: 54,698,382 (GRCm39) L1334S probably damaging Het
Slc9a2 C A 1: 40,781,813 (GRCm39) Y347* probably null Het
Snapc5 T A 9: 64,089,455 (GRCm39) I71K probably damaging Het
Tmem161a T C 8: 70,634,764 (GRCm39) F447S probably damaging Het
Tns3 A G 11: 8,442,147 (GRCm39) C739R probably benign Het
Trappc11 A T 8: 47,983,808 (GRCm39) V28D possibly damaging Het
Ubr3 C T 2: 69,786,429 (GRCm39) Q848* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Other mutations in Nkx1-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1826:Nkx1-1 UTSW 5 33,591,277 (GRCm39) missense unknown
R2175:Nkx1-1 UTSW 5 33,588,598 (GRCm39) missense probably benign 0.10
R3735:Nkx1-1 UTSW 5 33,591,074 (GRCm39) missense unknown
R4973:Nkx1-1 UTSW 5 33,588,410 (GRCm39) missense possibly damaging 0.89
R6155:Nkx1-1 UTSW 5 33,588,395 (GRCm39) missense probably damaging 1.00
R6381:Nkx1-1 UTSW 5 33,591,320 (GRCm39) start codon destroyed probably null
R6675:Nkx1-1 UTSW 5 33,591,223 (GRCm39) missense unknown
R6831:Nkx1-1 UTSW 5 33,591,147 (GRCm39) missense unknown
R9153:Nkx1-1 UTSW 5 33,588,703 (GRCm39) missense unknown
R9168:Nkx1-1 UTSW 5 33,591,131 (GRCm39) missense unknown
R9470:Nkx1-1 UTSW 5 33,591,275 (GRCm39) missense unknown
Z1177:Nkx1-1 UTSW 5 33,588,839 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTAGAAAAGAGACGCCCATGC -3'
(R):5'- TTCCCCTGTGGACGATACTG -3'

Sequencing Primer
(F):5'- TCCTGGCACCGAGATTCAGAG -3'
(R):5'- CTGCAACTGCTACGGGAG -3'
Posted On 2018-04-02