Incidental Mutation 'R9172:Nkx2-1'
ID 696497
Institutional Source Beutler Lab
Gene Symbol Nkx2-1
Ensembl Gene ENSMUSG00000001496
Gene Name NK2 homeobox 1
Synonyms thyroid-specific enhancer-binding protein, Titf1, tinman, thyroid transcription factor-1, T/EBP, Ttf-1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9172 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 56531958-56536908 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56534967 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 32 (G32C)
Ref Sequence ENSEMBL: ENSMUSP00000001536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001536] [ENSMUST00000178477]
AlphaFold P50220
Predicted Effect probably damaging
Transcript: ENSMUST00000001536
AA Change: G32C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001536
Gene: ENSMUSG00000001496
AA Change: G32C

DomainStartEndE-ValueType
low complexity region 39 69 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
HOX 161 223 9.05e-25 SMART
low complexity region 224 254 N/A INTRINSIC
low complexity region 273 323 N/A INTRINSIC
low complexity region 346 356 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178477
AA Change: G32C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136103
Gene: ENSMUSG00000001496
AA Change: G32C

DomainStartEndE-ValueType
low complexity region 39 69 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
HOX 161 223 9.05e-25 SMART
low complexity region 224 254 N/A INTRINSIC
low complexity region 273 323 N/A INTRINSIC
low complexity region 346 356 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for a targeted mutation have profoundly abnormal lungs and ventral forebrain defects, lack thyroids, pituitary gland, and tracheoesophageal septation, and die at birth from respiratory failure. Carriers show incoordination and high TSH. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik T C 7: 127,385,454 K159E probably benign Het
Accsl A T 2: 93,861,488 L332Q probably damaging Het
Adcy1 A G 11: 7,160,317 N855D probably damaging Het
Adgrl3 T A 5: 81,774,404 C1199S probably benign Het
Alyref G A 11: 120,596,016 R140C probably benign Het
Arhgap26 A T 18: 39,245,329 I92F probably damaging Het
Atp9b G A 18: 80,917,778 R73* probably null Het
Btaf1 G A 19: 37,000,230 A1483T probably damaging Het
Casc1 A G 6: 145,177,449 F564L probably benign Het
Cmtr2 T C 8: 110,222,129 L357P probably damaging Het
Commd7 A T 2: 153,628,554 L51Q possibly damaging Het
Cpd T A 11: 76,784,426 I1290L probably benign Het
Cry2 C A 2: 92,413,648 E393D probably damaging Het
Ctsm A T 13: 61,537,829 M74K Het
Dync2h1 T C 9: 7,031,771 Y3491C probably damaging Het
Erc1 A C 6: 119,824,881 N58K possibly damaging Het
Fbxw21 T C 9: 109,146,696 T211A probably benign Het
Fry T C 5: 150,413,328 V1388A probably benign Het
Fuk A G 8: 110,883,925 W949R probably damaging Het
Gca T G 2: 62,690,024 I176S probably damaging Het
Gimap7 A T 6: 48,723,827 K116* probably null Het
Gm40460 ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 142,240,710 probably benign Het
Gm5415 G T 1: 32,546,084 H248Q probably benign Het
Gm906 A G 13: 50,247,381 F303S probably benign Het
Gm9195 A C 14: 72,473,714 L428R probably damaging Het
Grin2b A G 6: 135,779,257 I490T possibly damaging Het
Kif24 T C 4: 41,400,442 T499A probably benign Het
Mbtps1 G A 8: 119,533,369 T413I probably damaging Het
Med4 A T 14: 73,513,925 S105C probably benign Het
Mgat1 G A 11: 49,261,083 R131Q probably damaging Het
Mroh4 T C 15: 74,606,112 *984W probably null Het
Mybpc1 T C 10: 88,543,753 E628G possibly damaging Het
Myh8 C T 11: 67,292,434 P713L possibly damaging Het
Myo7a T C 7: 98,083,162 D706G probably benign Het
Nbas T A 12: 13,374,750 C997S possibly damaging Het
Npas3 A G 12: 54,065,870 T466A probably benign Het
Olfr1085 T A 2: 86,657,535 I308L probably benign Het
Olfr487 T C 7: 108,211,962 E189G probably benign Het
Opa1 C T 16: 29,620,414 R683C probably benign Het
Opa3 C T 7: 19,255,541 R110C probably damaging Het
Ppfibp2 T A 7: 107,738,318 L609* probably null Het
Pygo2 T A 3: 89,433,310 D338E possibly damaging Het
Pzp A T 6: 128,525,209 M59K probably benign Het
Reln A G 5: 21,950,817 probably null Het
Ripor1 A G 8: 105,621,201 D1097G unknown Het
Rmdn3 T C 2: 119,138,382 K443E probably benign Het
Rnf145 A G 11: 44,557,435 D373G possibly damaging Het
Sec23b A T 2: 144,559,259 E13D probably benign Het
Slc39a6 A G 18: 24,582,342 F707S probably damaging Het
Sox11 G A 12: 27,341,537 A291V possibly damaging Het
Spg20 T A 3: 55,124,846 V367D possibly damaging Het
Strap A T 6: 137,741,367 K156N probably benign Het
Stxbp5 T A 10: 9,769,408 I951F possibly damaging Het
Taar7a T C 10: 23,992,779 I235V probably benign Het
Tek T A 4: 94,804,346 N230K probably benign Het
Tyw1 T A 5: 130,296,679 C469* probably null Het
Vcan T C 13: 89,679,931 H3132R probably damaging Het
Vmn2r24 A G 6: 123,806,473 D544G probably damaging Het
Vmn2r3 A T 3: 64,278,982 M94K possibly damaging Het
Vps33a T C 5: 123,536,541 T388A probably benign Het
Vta1 A G 10: 14,675,999 I152T probably damaging Het
Vtcn1 A G 3: 100,892,549 D242G probably benign Het
Zfp12 T A 5: 143,245,465 C548S probably damaging Het
Zfp263 A G 16: 3,749,459 D546G probably benign Het
Zfp324 T A 7: 12,970,762 C293S probably damaging Het
Zscan4c A T 7: 11,009,892 I473F possibly damaging Het
Other mutations in Nkx2-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0617:Nkx2-1 UTSW 12 56534855 missense possibly damaging 0.75
R1745:Nkx2-1 UTSW 12 56533744 missense probably benign 0.00
R2209:Nkx2-1 UTSW 12 56533508 missense probably benign 0.15
R2230:Nkx2-1 UTSW 12 56533286 nonsense probably null
R4691:Nkx2-1 UTSW 12 56533565 missense probably benign 0.01
R4990:Nkx2-1 UTSW 12 56534939 missense possibly damaging 0.72
R4991:Nkx2-1 UTSW 12 56534939 missense possibly damaging 0.72
R7216:Nkx2-1 UTSW 12 56534802 missense probably damaging 1.00
R7316:Nkx2-1 UTSW 12 56534798 missense probably benign 0.18
R8401:Nkx2-1 UTSW 12 56533056 missense probably damaging 0.99
R8854:Nkx2-1 UTSW 12 56533421 missense probably benign 0.21
R9655:Nkx2-1 UTSW 12 56535017 missense probably damaging 1.00
RF006:Nkx2-1 UTSW 12 56533547 missense probably damaging 1.00
Z1176:Nkx2-1 UTSW 12 56533684 missense probably benign 0.00
Z1176:Nkx2-1 UTSW 12 56534964 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ACTCCTACACAAGGCTGTTCG -3'
(R):5'- ACACCAGAATATTTGGCAAAGG -3'

Sequencing Primer
(F):5'- TCACTTACTGGCGGGGAAG -3'
(R):5'- CCGAATCATGTCGATGAGT -3'
Posted On 2022-02-07