Incidental Mutation 'IGL01670:Nkx6-1'
ID 103465
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 # IGL01670
Quality Score
Status
Chromosome 5
Chromosomal Location 101807050-101812577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101809806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 247 (Q247L)
Ref Sequence ENSEMBL: ENSMUSP00000042716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044125]
AlphaFold Q99MA9
Predicted Effect probably benign
Transcript: ENSMUST00000044125
AA Change: Q247L

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042716
Gene: ENSMUSG00000035187
AA Change: Q247L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A C 9: 106,314,006 (GRCm39) probably benign Het
Add1 C A 5: 34,777,407 (GRCm39) Q57K probably damaging Het
Alms1 A G 6: 85,655,132 (GRCm39) E3226G probably benign Het
Arl1 G T 10: 88,577,884 (GRCm39) R151L probably damaging Het
Cabs1 T A 5: 88,127,869 (GRCm39) D173E possibly damaging Het
Cdc34b T C 11: 94,632,845 (GRCm39) L15P probably benign Het
Cdyl2 A G 8: 117,351,092 (GRCm39) V13A probably damaging Het
Chd7 G T 4: 8,827,033 (GRCm39) R1026L probably damaging Het
Cldn34b4 T C X: 75,441,195 (GRCm39) S151P probably damaging Het
Col14a1 T A 15: 55,192,662 (GRCm39) I25N unknown Het
Crisp4 T A 1: 18,198,901 (GRCm39) T178S probably benign Het
Csmd2 C T 4: 128,407,164 (GRCm39) probably benign Het
Csmd3 T G 15: 47,475,225 (GRCm39) N2454H probably damaging Het
Cytip A T 2: 58,023,785 (GRCm39) I345N probably damaging Het
Frem2 A T 3: 53,564,358 (GRCm39) S50T possibly damaging Het
Gm9747 C T 1: 82,211,870 (GRCm39) probably benign Het
Gpr37 A G 6: 25,669,833 (GRCm39) F337S probably damaging Het
Herc1 A G 9: 66,394,342 (GRCm39) E4182G probably damaging Het
Isyna1 C T 8: 71,049,706 (GRCm39) P511L probably benign Het
Kdm4a T C 4: 118,017,698 (GRCm39) Y456C probably damaging Het
Kera A T 10: 97,444,939 (GRCm39) R99S possibly damaging Het
Larp7-ps T C 4: 92,079,737 (GRCm39) probably null Het
Mcm2 A G 6: 88,864,614 (GRCm39) probably benign Het
Myl12a T C 17: 71,303,848 (GRCm39) T10A probably benign Het
Nav3 A G 10: 109,550,102 (GRCm39) V1876A possibly damaging Het
Nol8 A C 13: 49,814,784 (GRCm39) K297N possibly damaging Het
Or4c119 T A 2: 88,987,261 (GRCm39) Y86F probably benign Het
Or51e1 A T 7: 102,358,772 (GRCm39) Q102L probably damaging Het
Or5w18 A G 2: 87,633,224 (GRCm39) T164A probably benign Het
Pard3b A T 1: 62,250,807 (GRCm39) N579Y probably damaging Het
Pdcd11 T A 19: 47,094,743 (GRCm39) L509H probably damaging Het
Prss29 T C 17: 25,541,437 (GRCm39) S266P probably benign Het
Rapgef3 G T 15: 97,647,543 (GRCm39) H766N probably benign Het
Rasa1 A T 13: 85,373,609 (GRCm39) S818T probably damaging Het
Rtn4ip1 A G 10: 43,804,322 (GRCm39) M1V probably null Het
Sall1 A T 8: 89,758,199 (GRCm39) V635D probably benign Het
Slc35b4 C T 6: 34,147,484 (GRCm39) V35I probably benign Het
Slc5a11 G A 7: 122,869,172 (GRCm39) A587T probably benign Het
Slc6a21 T C 7: 44,937,557 (GRCm39) V616A possibly damaging Het
Sorl1 A G 9: 41,912,788 (GRCm39) S1398P possibly damaging Het
Srcap A G 7: 127,127,604 (GRCm39) K390E probably damaging Het
Sycp2 C T 2: 178,019,843 (GRCm39) E558K probably benign Het
Tcf20 T C 15: 82,739,564 (GRCm39) N629S possibly damaging Het
Tmem154 A G 3: 84,591,537 (GRCm39) Y29C probably damaging Het
Tmtc3 A G 10: 100,282,987 (GRCm39) I856T probably benign Het
Zswim6 A G 13: 107,865,101 (GRCm39) noncoding transcript Het
Other mutations in Nkx6-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Nkx6-1 APN 5 101,807,371 (GRCm39) missense possibly damaging 0.91
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 2014-01-21