Incidental Mutation 'R3625:Nkx6-2'
ID 334568
Institutional Source Beutler Lab
Gene Symbol Nkx6-2
Ensembl Gene ENSMUSG00000041309
Gene Name NK6 homeobox 2
Synonyms Gtx, Nkx6.2
MMRRC Submission 040679-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3625 (G1)
Quality Score 67
Status Validated
Chromosome 7
Chromosomal Location 139159292-139162713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139162106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 117 (F117S)
Ref Sequence ENSEMBL: ENSMUSP00000101701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026550] [ENSMUST00000097974] [ENSMUST00000097975] [ENSMUST00000106095] [ENSMUST00000106098]
AlphaFold D3Z4R4
Predicted Effect probably benign
Transcript: ENSMUST00000026550
SMART Domains Protein: ENSMUSP00000026550
Gene: ENSMUSG00000025477

DomainStartEndE-ValueType
IPPc 8 400 2.48e-165 SMART
low complexity region 415 422 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097974
AA Change: F117S

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095588
Gene: ENSMUSG00000041309
AA Change: F117S

DomainStartEndE-ValueType
low complexity region 64 85 N/A INTRINSIC
HOX 148 210 8.32e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097975
SMART Domains Protein: ENSMUSP00000095589
Gene: ENSMUSG00000025477

DomainStartEndE-ValueType
IPPc 25 408 1.84e-150 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106095
AA Change: F117S

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101701
Gene: ENSMUSG00000041309
AA Change: F117S

DomainStartEndE-ValueType
low complexity region 64 85 N/A INTRINSIC
HOX 148 210 8.32e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106098
SMART Domains Protein: ENSMUSP00000101704
Gene: ENSMUSG00000025477

DomainStartEndE-ValueType
IPPc 8 400 2.48e-165 SMART
Meta Mutation Damage Score 0.1416 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (40/40)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired coordination at 6 weeks of age and axon degeneration in the optic nerve at 7 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,425,591 (GRCm39) V80A possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg3 T A 16: 44,995,624 (GRCm39) I119N probably benign Het
Cdh12 G C 15: 21,358,842 (GRCm39) V89L probably damaging Het
Cdh3 C A 8: 107,270,310 (GRCm39) H396N probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dab2ip C A 2: 35,533,903 (GRCm39) S43* probably null Het
Dmxl2 A G 9: 54,300,927 (GRCm39) S2394P probably benign Het
F13a1 T G 13: 37,082,067 (GRCm39) N546H probably benign Het
Fbn2 T C 18: 58,194,814 (GRCm39) N1449S probably damaging Het
Flywch1 T C 17: 23,979,175 (GRCm39) probably benign Het
Grxcr2 T A 18: 42,131,883 (GRCm39) D62V probably damaging Het
H2bc8 T C 13: 23,755,625 (GRCm39) probably benign Het
Ifnab A T 4: 88,609,016 (GRCm39) I150N probably damaging Het
Igsf8 T C 1: 172,145,336 (GRCm39) V284A probably benign Het
Kdm1a T C 4: 136,288,419 (GRCm39) E388G possibly damaging Het
Map3k8 G A 18: 4,333,965 (GRCm39) R376C probably damaging Het
Map6 A T 7: 98,918,402 (GRCm39) T189S possibly damaging Het
Mms22l T A 4: 24,505,357 (GRCm39) S206T probably damaging Het
N4bp1 A G 8: 87,578,337 (GRCm39) L676S probably damaging Het
Ociad2 C T 5: 73,481,173 (GRCm39) C72Y probably damaging Het
Or10w1 T A 19: 13,632,346 (GRCm39) C184* probably null Het
Or52e15 A T 7: 104,645,191 (GRCm39) F307I probably benign Het
Pcdhb6 G T 18: 37,469,193 (GRCm39) V21L probably damaging Het
Pogk G A 1: 166,231,081 (GRCm39) T82I probably damaging Het
Pramel51 T C 12: 88,142,731 (GRCm39) S296G probably benign Het
Prkcsh A G 9: 21,922,548 (GRCm39) E283G probably null Het
Prkd3 C T 17: 79,292,733 (GRCm39) R113H probably damaging Het
Rabgef1 T C 5: 130,240,961 (GRCm39) probably null Het
Rec8 T C 14: 55,859,954 (GRCm39) I234T possibly damaging Het
Sim1 A T 10: 50,857,432 (GRCm39) H394L probably benign Het
Thy1 A G 9: 43,958,028 (GRCm39) E52G probably damaging Het
Trav14n-3 A T 14: 53,607,543 (GRCm39) I4F probably damaging Het
Trim15 T C 17: 37,177,768 (GRCm39) T76A possibly damaging Het
Ttn A G 2: 76,599,145 (GRCm39) I19288T probably damaging Het
Vmn1r6 C T 6: 56,979,920 (GRCm39) T172I probably damaging Het
Vmn2r52 A T 7: 9,893,105 (GRCm39) L678Q probably damaging Het
Vpreb1a T C 16: 16,686,668 (GRCm39) H74R probably benign Het
Yeats4 T C 10: 117,056,273 (GRCm39) I100V probably benign Het
Zfp36 C A 7: 28,077,681 (GRCm39) A76S probably benign Het
Other mutations in Nkx6-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:Nkx6-2 APN 7 139,161,601 (GRCm39) missense probably damaging 1.00
R4702:Nkx6-2 UTSW 7 139,161,456 (GRCm39) missense probably damaging 1.00
R4944:Nkx6-2 UTSW 7 139,161,486 (GRCm39) missense possibly damaging 0.80
R6020:Nkx6-2 UTSW 7 139,161,483 (GRCm39) missense possibly damaging 0.80
R7156:Nkx6-2 UTSW 7 139,162,045 (GRCm39) splice site probably null
R7430:Nkx6-2 UTSW 7 139,161,916 (GRCm39) missense probably damaging 1.00
R7469:Nkx6-2 UTSW 7 139,161,555 (GRCm39) missense probably damaging 1.00
R8838:Nkx6-2 UTSW 7 139,161,868 (GRCm39) missense probably damaging 1.00
R9048:Nkx6-2 UTSW 7 139,161,876 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTCCAGCGCGAAGATCTG -3'
(R):5'- ATGAAGACGTCGCTGTTCCC -3'

Sequencing Primer
(F):5'- ATCTGCTGGCCGGAGAAAGTC -3'
(R):5'- ACTCCGCACGGCATCAG -3'
Posted On 2015-09-03