Incidental Mutation 'IGL00232:Nkx6-1'
ID 2404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkx6-1
Ensembl Gene ENSMUSG00000035187
Gene Name NK6 homeobox 1
Synonyms NKX6A, Nkx6.1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00232
Quality Score
Status
Chromosome 5
Chromosomal Location 101807050-101812577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101807371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 337 (D337G)
Ref Sequence ENSEMBL: ENSMUSP00000042716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044125]
AlphaFold Q99MA9
Predicted Effect possibly damaging
Transcript: ENSMUST00000044125
AA Change: D337G

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042716
Gene: ENSMUSG00000035187
AA Change: D337G

DomainStartEndE-ValueType
low complexity region 13 29 N/A INTRINSIC
low complexity region 33 66 N/A INTRINSIC
low complexity region 69 92 N/A INTRINSIC
low complexity region 110 181 N/A INTRINSIC
HOX 235 299 9.56e-24 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, abnormal neuron specification, decreased motor neuron number, and reduced pancreatic beta cell number and insulin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C A 15: 81,950,581 (GRCm39) Q1493K probably benign Het
Anapc1 A T 2: 128,487,050 (GRCm39) probably benign Het
Armc8 T C 9: 99,387,787 (GRCm39) probably null Het
Asz1 T G 6: 18,055,541 (GRCm39) probably null Het
Atp6v0a4 G A 6: 38,069,725 (GRCm39) R56* probably null Het
Bend6 T C 1: 33,922,619 (GRCm39) D8G possibly damaging Het
Ccdc171 T A 4: 83,600,561 (GRCm39) C870* probably null Het
Cd163 A G 6: 124,306,060 (GRCm39) probably benign Het
Chd2 A G 7: 73,118,325 (GRCm39) S1098P probably damaging Het
Col6a5 T G 9: 105,759,882 (GRCm39) D1946A probably damaging Het
Gm6576 T A 15: 27,025,884 (GRCm39) noncoding transcript Het
Gypa T G 8: 81,231,408 (GRCm39) probably benign Het
Ighv9-3 T C 12: 114,104,691 (GRCm39) probably benign Het
Itgb1 T G 8: 129,440,399 (GRCm39) probably benign Het
Kctd15 A T 7: 34,350,170 (GRCm39) probably null Het
Krtap13 A C 16: 88,548,423 (GRCm39) S22A possibly damaging Het
Masp1 C T 16: 23,276,841 (GRCm39) E555K possibly damaging Het
Med13l T A 5: 118,862,136 (GRCm39) S360T probably damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mfsd13a A G 19: 46,354,958 (GRCm39) Y45C probably damaging Het
Neb T C 2: 52,125,568 (GRCm39) D3662G possibly damaging Het
Nlrc5 T C 8: 95,211,251 (GRCm39) probably null Het
Palb2 T C 7: 121,720,287 (GRCm39) H468R probably damaging Het
Plscr1l1 C T 9: 92,233,005 (GRCm39) R43* probably null Het
Rai1 T G 11: 60,076,217 (GRCm39) Y94D probably damaging Het
Slc27a3 A T 3: 90,292,748 (GRCm39) Y605* probably null Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Trpm7 T C 2: 126,670,951 (GRCm39) E677G possibly damaging Het
Tstd2 A T 4: 46,120,002 (GRCm39) probably benign Het
Unc5c T C 3: 141,494,701 (GRCm39) I412T probably damaging Het
Other mutations in Nkx6-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Nkx6-1 APN 5 101,809,806 (GRCm39) missense probably benign 0.26
R2991:Nkx6-1 UTSW 5 101,807,401 (GRCm39) missense probably damaging 1.00
R4134:Nkx6-1 UTSW 5 101,807,371 (GRCm39) missense probably damaging 0.96
R4135:Nkx6-1 UTSW 5 101,807,371 (GRCm39) missense probably damaging 0.96
R5439:Nkx6-1 UTSW 5 101,809,698 (GRCm39) critical splice donor site probably null
R5511:Nkx6-1 UTSW 5 101,811,532 (GRCm39) missense probably damaging 1.00
R5914:Nkx6-1 UTSW 5 101,811,847 (GRCm39) missense unknown
R6406:Nkx6-1 UTSW 5 101,811,677 (GRCm39) missense unknown
R6463:Nkx6-1 UTSW 5 101,807,342 (GRCm39) missense probably damaging 0.97
R7261:Nkx6-1 UTSW 5 101,812,006 (GRCm39) missense unknown
R7795:Nkx6-1 UTSW 5 101,811,628 (GRCm39) missense unknown
R7950:Nkx6-1 UTSW 5 101,811,465 (GRCm39) missense probably damaging 0.97
R8696:Nkx6-1 UTSW 5 101,807,513 (GRCm39) missense possibly damaging 0.94
R8835:Nkx6-1 UTSW 5 101,811,971 (GRCm39) missense unknown
R8998:Nkx6-1 UTSW 5 101,812,082 (GRCm39) missense unknown
R8999:Nkx6-1 UTSW 5 101,812,082 (GRCm39) missense unknown
Posted On 2011-12-09