Incidental Mutation 'R4135:Nkx6-1'
ID 314841
Institutional Source Beutler Lab
Gene Symbol Nkx6-1
Ensembl Gene ENSMUSG00000035187
Gene Name NK6 homeobox 1
Synonyms NKX6A, Nkx6.1
MMRRC Submission 040995-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4135 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 101807050-101812577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101807371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 337 (D337V)
Ref Sequence ENSEMBL: ENSMUSP00000042716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044125]
AlphaFold Q99MA9
Predicted Effect probably damaging
Transcript: ENSMUST00000044125
AA Change: D337V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042716
Gene: ENSMUSG00000035187
AA Change: D337V

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
Meta Mutation Damage Score 0.1113 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T A 1: 159,905,092 (GRCm39) probably benign Het
Bak1 T A 17: 27,240,244 (GRCm39) T148S possibly damaging Het
Cdc25a C A 9: 109,710,585 (GRCm39) H157Q possibly damaging Het
Chst5 T C 8: 112,616,816 (GRCm39) Y268C probably damaging Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Ctsr T C 13: 61,309,084 (GRCm39) T224A probably benign Het
Cux1 T C 5: 136,336,750 (GRCm39) K921E probably damaging Het
Dcaf12l1 T C X: 43,878,330 (GRCm39) N156S probably damaging Het
Dennd2d T A 3: 106,389,977 (GRCm39) D2E probably benign Het
Dock2 T C 11: 34,605,328 (GRCm39) K264E possibly damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Gabrb3 G T 7: 57,241,036 (GRCm39) A5S probably benign Het
Gcnt2 T A 13: 41,041,283 (GRCm39) N147K probably damaging Het
Gm6987 T A X: 93,068,216 (GRCm39) noncoding transcript Het
Hbp1 A T 12: 31,984,421 (GRCm39) L262Q probably damaging Het
Hsd11b2 T C 8: 106,249,798 (GRCm39) V303A probably benign Het
Htr5a A G 5: 28,047,690 (GRCm39) M82V probably benign Het
Mcc T C 18: 44,857,707 (GRCm39) D136G probably benign Het
Mrpl32 C T 13: 14,787,564 (GRCm39) V14M probably damaging Het
Msl1 A G 11: 98,687,126 (GRCm39) D157G possibly damaging Het
Mthfd1 G A 12: 76,329,648 (GRCm39) probably null Het
Nlrp5 T C 7: 23,117,823 (GRCm39) W516R possibly damaging Het
Or2ag1 A G 7: 106,313,210 (GRCm39) L226P probably damaging Het
Or2l13b T A 16: 19,349,452 (GRCm39) I73F possibly damaging Het
Or2y3 A G 17: 38,393,248 (GRCm39) V207A possibly damaging Het
Or4l1 T C 14: 50,166,272 (GRCm39) H243R probably damaging Het
Or5af1 C A 11: 58,722,820 (GRCm39) T280K probably damaging Het
Pate5 A G 9: 35,750,724 (GRCm39) S33P possibly damaging Het
Pold3 T A 7: 99,749,854 (GRCm39) R104* probably null Het
Rapsn A T 2: 90,867,162 (GRCm39) N155Y probably damaging Het
Rorc C A 3: 94,296,826 (GRCm39) Q269K probably damaging Het
Rreb1 A T 13: 38,131,099 (GRCm39) N1418Y probably damaging Het
Rusc2 G A 4: 43,425,563 (GRCm39) D1223N possibly damaging Het
Sema6d T C 2: 124,506,040 (GRCm39) I616T probably damaging Het
Ttc6 T A 12: 57,679,581 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,338,810 (GRCm39) Y58F probably damaging Het
Vmn2r129 T G 4: 156,691,085 (GRCm39) noncoding transcript Het
Vwa5b1 A T 4: 138,321,641 (GRCm39) M384K possibly damaging Het
Washc3 G A 10: 88,055,142 (GRCm39) E111K probably benign Het
Xirp2 A G 2: 67,355,741 (GRCm39) S3501G probably benign Het
Zfp1004 A T 2: 150,023,788 (GRCm39) probably benign Het
Zfp352 C T 4: 90,113,261 (GRCm39) T467M probably damaging Het
Zfp729a C A 13: 67,767,925 (GRCm39) C768F probably damaging Het
Zfp810 T C 9: 22,190,369 (GRCm39) K180E probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CTTAGAAAATAGTAAAGGCCCGGC -3'
(R):5'- TAGACTGACTTTGACGGCTG -3'

Sequencing Primer
(F):5'- GCGAGCAGCCAGGATAC -3'
(R):5'- TGACTTTGACGGCTGGACCC -3'
Posted On 2015-05-14