Incidental Mutation 'IGL01670:Nkx6-1'
ID103465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkx6-1
Ensembl Gene ENSMUSG00000035187
Gene NameNK6 homeobox 1
SynonymsNkx6.1, NKX6A
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01670
Quality Score
Status
Chromosome5
Chromosomal Location101658139-101664996 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101661940 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 247 (Q247L)
Ref Sequence ENSEMBL: ENSMUSP00000042716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044125]
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: 106,436,807 probably benign Het
Add1 C A 5: 34,620,063 Q57K probably damaging Het
Alms1 A G 6: 85,678,150 E3226G probably benign Het
Arl1 G T 10: 88,742,022 R151L probably damaging Het
Cabs1 T A 5: 87,980,010 D173E possibly damaging Het
Cdc34b T C 11: 94,742,019 L15P probably benign Het
Cdyl2 A G 8: 116,624,353 V13A probably damaging Het
Chd7 G T 4: 8,827,033 R1026L probably damaging Het
Cldn34b4 T C X: 76,397,589 S151P probably damaging Het
Col14a1 T A 15: 55,329,266 I25N unknown Het
Crisp4 T A 1: 18,128,677 T178S probably benign Het
Csmd2 C T 4: 128,513,371 probably benign Het
Csmd3 T G 15: 47,611,829 N2454H probably damaging Het
Cytip A T 2: 58,133,773 I345N probably damaging Het
Frem2 A T 3: 53,656,937 S50T possibly damaging Het
Gm12666 T C 4: 92,191,500 probably null Het
Gm9747 C T 1: 82,234,149 probably benign Het
Gpr37 A G 6: 25,669,834 F337S probably damaging Het
Herc1 A G 9: 66,487,060 E4182G probably damaging Het
Isyna1 C T 8: 70,597,056 P511L probably benign Het
Kdm4a T C 4: 118,160,501 Y456C probably damaging Het
Kera A T 10: 97,609,077 R99S possibly damaging Het
Mcm2 A G 6: 88,887,632 probably benign Het
Myl12a T C 17: 70,996,853 T10A probably benign Het
Nav3 A G 10: 109,714,241 V1876A possibly damaging Het
Nol8 A C 13: 49,661,308 K297N possibly damaging Het
Olfr1143 A G 2: 87,802,880 T164A probably benign Het
Olfr1224-ps1 T A 2: 89,156,917 Y86F probably benign Het
Olfr558 A T 7: 102,709,565 Q102L probably damaging Het
Pard3b A T 1: 62,211,648 N579Y probably damaging Het
Pdcd11 T A 19: 47,106,304 L509H probably damaging Het
Prss29 T C 17: 25,322,463 S266P probably benign Het
Rapgef3 G T 15: 97,749,662 H766N probably benign Het
Rasa1 A T 13: 85,225,490 S818T probably damaging Het
Rtn4ip1 A G 10: 43,928,326 M1V probably null Het
Sall1 A T 8: 89,031,571 V635D probably benign Het
Slc35b4 C T 6: 34,170,549 V35I probably benign Het
Slc5a11 G A 7: 123,269,949 A587T probably benign Het
Slc6a21 T C 7: 45,288,133 V616A possibly damaging Het
Sorl1 A G 9: 42,001,492 S1398P possibly damaging Het
Srcap A G 7: 127,528,432 K390E probably damaging Het
Sycp2 C T 2: 178,378,050 E558K probably benign Het
Tcf20 T C 15: 82,855,363 N629S possibly damaging Het
Tmem154 A G 3: 84,684,230 Y29C probably damaging Het
Tmtc3 A G 10: 100,447,125 I856T probably benign Het
Zswim6 A G 13: 107,728,566 noncoding transcript Het
Other mutations in Nkx6-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Nkx6-1 APN 5 101659505 missense possibly damaging 0.91
R2991:Nkx6-1 UTSW 5 101659535 missense probably damaging 1.00
R4134:Nkx6-1 UTSW 5 101659505 missense probably damaging 0.96
R4135:Nkx6-1 UTSW 5 101659505 missense probably damaging 0.96
R5439:Nkx6-1 UTSW 5 101661832 critical splice donor site probably null
R5511:Nkx6-1 UTSW 5 101663666 missense probably damaging 1.00
R5914:Nkx6-1 UTSW 5 101663981 missense unknown
R6406:Nkx6-1 UTSW 5 101663811 missense unknown
R6463:Nkx6-1 UTSW 5 101659476 missense probably damaging 0.97
Posted On2014-01-21