Incidental Mutation 'R4135:Nkx6-1'
ID314841
Institutional Source Beutler Lab
Gene Symbol Nkx6-1
Ensembl Gene ENSMUSG00000035187
Gene NameNK6 homeobox 1
SynonymsNkx6.1, NKX6A
MMRRC Submission 040995-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4135 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location101658139-101664996 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101659505 bp
ZygosityHeterozygous
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]
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: 160,077,522 probably benign Het
9230110F15Rik A G 9: 35,839,428 S33P possibly damaging Het
Bak1 T A 17: 27,021,270 T148S possibly damaging Het
Cdc25a C A 9: 109,881,517 H157Q possibly damaging Het
Chst5 T C 8: 111,890,184 Y268C probably damaging Het
Csnk1g2 T C 10: 80,638,296 I145T possibly damaging Het
Ctsr T C 13: 61,161,270 T224A probably benign Het
Cux1 T C 5: 136,307,896 K921E probably damaging Het
Dcaf12l1 T C X: 44,789,453 N156S probably damaging Het
Dennd2d T A 3: 106,482,661 D2E probably benign Het
Dock2 T C 11: 34,714,501 K264E possibly damaging Het
Eif3c C G 7: 126,566,299 probably benign Het
Gabrb3 G T 7: 57,591,288 A5S probably benign Het
Gcnt2 T A 13: 40,887,807 N147K probably damaging Het
Gm14139 A T 2: 150,181,868 probably benign Het
Gm6987 T A X: 94,024,610 noncoding transcript Het
Hbp1 A T 12: 31,934,422 L262Q probably damaging Het
Hsd11b2 T C 8: 105,523,166 V303A probably benign Het
Htr5a A G 5: 27,842,692 M82V probably benign Het
Mcc T C 18: 44,724,640 D136G probably benign Het
Mrpl32 C T 13: 14,612,979 V14M probably damaging Het
Msl1 A G 11: 98,796,300 D157G possibly damaging Het
Mthfd1 G A 12: 76,282,874 probably null Het
Nlrp5 T C 7: 23,418,398 W516R possibly damaging Het
Olfr131 A G 17: 38,082,357 V207A possibly damaging Het
Olfr168 T A 16: 19,530,702 I73F possibly damaging Het
Olfr312 C A 11: 58,831,994 T280K probably damaging Het
Olfr705 A G 7: 106,714,003 L226P probably damaging Het
Olfr723 T C 14: 49,928,815 H243R probably damaging Het
Pold3 T A 7: 100,100,647 R104* probably null Het
Rapsn A T 2: 91,036,817 N155Y probably damaging Het
Rorc C A 3: 94,389,519 Q269K probably damaging Het
Rreb1 A T 13: 37,947,123 N1418Y probably damaging Het
Rusc2 G A 4: 43,425,563 D1223N possibly damaging Het
Sema6d T C 2: 124,664,120 I616T probably damaging Het
Ttc6 T A 12: 57,632,795 probably benign Het
Ugt3a2 A T 15: 9,338,724 Y58F probably damaging Het
Vmn2r-ps159 T G 4: 156,338,790 noncoding transcript Het
Vwa5b1 A T 4: 138,594,330 M384K possibly damaging Het
Washc3 G A 10: 88,219,280 E111K probably benign Het
Xirp2 A G 2: 67,525,397 S3501G probably benign Het
Zfp352 C T 4: 90,225,024 T467M probably damaging Het
Zfp729a C A 13: 67,619,806 C768F probably damaging Het
Zfp810 T C 9: 22,279,073 K180E probably damaging Het
Other mutations in Nkx6-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Nkx6-1 APN 5 101659505 missense possibly damaging 0.91
IGL01670:Nkx6-1 APN 5 101661940 missense probably benign 0.26
R2991:Nkx6-1 UTSW 5 101659535 missense probably damaging 1.00
R4134: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
R7261:Nkx6-1 UTSW 5 101664140 missense unknown
R7795:Nkx6-1 UTSW 5 101663762 missense unknown
R7950:Nkx6-1 UTSW 5 101663599 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTTAGAAAATAGTAAAGGCCCGGC -3'
(R):5'- TAGACTGACTTTGACGGCTG -3'

Sequencing Primer
(F):5'- GCGAGCAGCCAGGATAC -3'
(R):5'- TGACTTTGACGGCTGGACCC -3'
Posted On2015-05-14