Incidental Mutation 'R6406:Nkx6-1'
ID 516297
Institutional Source Beutler Lab
Gene Symbol Nkx6-1
Ensembl Gene ENSMUSG00000035187
Gene Name NK6 homeobox 1
Synonyms NKX6A, Nkx6.1
MMRRC Submission 044551-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6406 (G1)
Quality Score 180.009
Status Not validated
Chromosome 5
Chromosomal Location 101807050-101812577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101811677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 142 (A142T)
Ref Sequence ENSEMBL: ENSMUSP00000042716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044125]
AlphaFold Q99MA9
Predicted Effect unknown
Transcript: ENSMUST00000044125
AA Change: A142T
SMART Domains Protein: ENSMUSP00000042716
Gene: ENSMUSG00000035187
AA Change: A142T

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C T 17: 45,817,865 (GRCm39) P29L probably benign Het
Acsm1 A G 7: 119,261,484 (GRCm39) N567S probably benign Het
Ahi1 T G 10: 20,852,948 (GRCm39) N505K probably damaging Het
Ank2 T A 3: 126,825,874 (GRCm39) D356V probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bpifb6 C A 2: 153,746,457 (GRCm39) T117K possibly damaging Het
C2cd6 T C 1: 59,097,835 (GRCm39) E418G possibly damaging Het
Cbx1 A T 11: 96,692,364 (GRCm39) K84* probably null Het
Cr2 A G 1: 194,852,079 (GRCm39) L90P probably damaging Het
Dclk1 A G 3: 55,387,827 (GRCm39) D91G probably damaging Het
Dock1 C A 7: 134,747,215 (GRCm39) Q1509K probably benign Het
Fzd1 T G 5: 4,806,089 (GRCm39) T498P probably damaging Het
Galnt12 A G 4: 47,122,534 (GRCm39) N271S probably benign Het
Gm12888 A G 4: 121,176,654 (GRCm39) I49T possibly damaging Het
Gria4 A T 9: 4,427,077 (GRCm39) W788R probably damaging Het
Ilf3 C T 9: 21,307,540 (GRCm39) A379V probably damaging Het
Islr2 A G 9: 58,107,263 (GRCm39) V43A probably benign Het
Jag1 T A 2: 136,929,563 (GRCm39) N782I probably damaging Het
Klhl8 T A 5: 104,010,981 (GRCm39) I539F possibly damaging Het
Lama5 A T 2: 179,839,257 (GRCm39) C750* probably null Het
Lrrc37a T A 11: 103,388,361 (GRCm39) T2355S unknown Het
Lrrc8a A G 2: 30,147,103 (GRCm39) H639R possibly damaging Het
Map1a A T 2: 121,131,224 (GRCm39) D442V probably damaging Het
Mier3 T C 13: 111,846,343 (GRCm39) probably null Het
Msantd1 C A 5: 35,080,665 (GRCm39) probably null Het
Ncapd2 C A 6: 125,150,841 (GRCm39) A785S probably benign Het
Ncbp2 CTCGTCTGG C 16: 31,775,159 (GRCm39) probably null Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Ndst4 T C 3: 125,232,150 (GRCm39) S240P probably benign Het
Nek9 T C 12: 85,385,946 (GRCm39) D17G probably damaging Het
Nt5dc1 T C 10: 34,200,404 (GRCm39) H205R probably benign Het
Or5b94 T C 19: 12,652,184 (GRCm39) I205T probably benign Het
Or9g3 T A 2: 85,590,651 (GRCm39) Q23L possibly damaging Het
Pafah1b1 A G 11: 74,573,098 (GRCm39) M322T probably benign Het
Parp2 A G 14: 51,056,934 (GRCm39) N353D probably benign Het
Pdcd6ip T C 9: 113,503,412 (GRCm39) N452S possibly damaging Het
Pkd1l2 A G 8: 117,762,586 (GRCm39) V1397A probably damaging Het
Prkdc T A 16: 15,535,665 (GRCm39) L1675Q probably damaging Het
Ptprt T C 2: 161,395,703 (GRCm39) I1157V probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Sele G T 1: 163,878,312 (GRCm39) C217F probably damaging Het
Spats1 T A 17: 45,768,191 (GRCm39) H125L probably damaging Het
Stard3 T C 11: 98,269,595 (GRCm39) V330A probably benign Het
Synj2 T A 17: 6,069,846 (GRCm39) probably benign Het
Thoc1 T A 18: 9,977,963 (GRCm39) F301L probably damaging Het
Thumpd3 G A 6: 113,032,924 (GRCm39) E221K probably damaging Het
Trim61 T C 8: 65,466,377 (GRCm39) T295A possibly damaging Het
Trp53bp1 T C 2: 121,101,093 (GRCm39) Q35R probably damaging Het
Tsnaxip1 C T 8: 106,570,615 (GRCm39) T578I probably benign Het
Other mutations in Nkx6-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Nkx6-1 APN 5 101,807,371 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- CCCGAGAGCAGACTTAGAAG -3'
(R):5'- CCACCTTTGGGCTCACATAAC -3'

Sequencing Primer
(F):5'- ATCACTCCGGGCCAGAAGATG -3'
(R):5'- TTTGGGCTCACATAACCCGGG -3'
Posted On 2018-05-04