Incidental Mutation 'R3037:Nanog'
ID 264847
Institutional Source Beutler Lab
Gene Symbol Nanog
Ensembl Gene ENSMUSG00000012396
Gene Name Nanog homeobox
Synonyms ENK, 2410002E02Rik, ecat4
MMRRC Submission 040553-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3037 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 122684448-122691592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 122690227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 186 (Q186K)
Ref Sequence ENSEMBL: ENSMUSP00000108200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012540] [ENSMUST00000112580] [ENSMUST00000112581]
AlphaFold Q80Z64
Predicted Effect possibly damaging
Transcript: ENSMUST00000012540
AA Change: Q211K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000012540
Gene: ENSMUSG00000012396
AA Change: Q211K

DomainStartEndE-ValueType
low complexity region 13 25 N/A INTRINSIC
HOX 96 158 5.33e-22 SMART
low complexity region 206 230 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112580
AA Change: Q186K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108199
Gene: ENSMUSG00000012396
AA Change: Q186K

DomainStartEndE-ValueType
HOX 71 133 5.33e-22 SMART
low complexity region 181 205 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112581
AA Change: Q186K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108200
Gene: ENSMUSG00000012396
AA Change: Q186K

DomainStartEndE-ValueType
HOX 71 133 5.33e-22 SMART
low complexity region 181 205 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a disruption in this gene die between E3.5 and E5.5 with abnormal embryonic and extraembryonic tissue development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b1 T C 13: 94,582,486 (GRCm39) probably null Het
Bco1 A G 8: 117,854,278 (GRCm39) Y401C probably benign Het
Bod1l A T 5: 41,979,380 (GRCm39) S645T probably damaging Het
Cat A G 2: 103,298,122 (GRCm39) Y274H probably benign Het
Cdh19 C A 1: 110,882,337 (GRCm39) V52F probably damaging Het
Cntnap2 G A 6: 45,992,200 (GRCm39) V376I possibly damaging Het
Dll3 A G 7: 27,998,542 (GRCm39) L141P probably damaging Het
Ets2 C A 16: 95,517,109 (GRCm39) N280K probably benign Het
Fam186a G T 15: 99,841,675 (GRCm39) P1523Q probably damaging Het
Fcgbp A G 7: 27,802,127 (GRCm39) I1352V possibly damaging Het
Fcsk A T 8: 111,621,350 (GRCm39) probably null Het
Gng11 A G 6: 4,008,051 (GRCm39) E38G probably benign Het
Gsdmc2 A T 15: 63,705,180 (GRCm39) F178I probably benign Het
Il11ra1 T A 4: 41,765,074 (GRCm39) S133R possibly damaging Het
Kcnab2 T A 4: 152,478,213 (GRCm39) I349F possibly damaging Het
Kctd10 A G 5: 114,513,061 (GRCm39) V38A probably damaging Het
Lrig3 A G 10: 125,845,901 (GRCm39) R777G probably damaging Het
Naip2 A C 13: 100,291,457 (GRCm39) D1160E probably benign Het
Nlrc3 T C 16: 3,770,272 (GRCm39) N249S probably damaging Het
Nup214 A T 2: 31,866,632 (GRCm39) T56S probably benign Het
Or8k41 A T 2: 86,313,987 (GRCm39) I33N probably damaging Het
Pcdhb1 T G 18: 37,398,166 (GRCm39) M39R probably damaging Het
Pced1a A C 2: 130,261,779 (GRCm39) D291E probably benign Het
Pdia6 C T 12: 17,329,646 (GRCm39) R261W probably damaging Het
Pdlim4 C A 11: 53,947,083 (GRCm39) G72V probably benign Het
Plce1 G A 19: 38,766,328 (GRCm39) D2104N probably damaging Het
Ptprk T C 10: 28,456,474 (GRCm39) L7P probably damaging Het
Rad21l A T 2: 151,502,700 (GRCm39) F170Y probably damaging Het
Scaf1 T C 7: 44,656,771 (GRCm39) probably benign Het
Topors C T 4: 40,269,673 (GRCm39) probably null Het
Trpm5 G A 7: 142,639,200 (GRCm39) T239I probably benign Het
Tspan5 G A 3: 138,604,116 (GRCm39) G167D probably damaging Het
Ttyh3 C A 5: 140,634,597 (GRCm39) probably benign Het
Usp15 C A 10: 122,999,522 (GRCm39) W220L probably damaging Het
Vmn2r77 A T 7: 86,450,191 (GRCm39) I146L probably benign Het
Ythdf3 T C 3: 16,259,355 (GRCm39) F501L probably benign Het
Zc3h4 A G 7: 16,155,410 (GRCm39) D241G unknown Het
Other mutations in Nanog
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Nanog APN 6 122,688,495 (GRCm39) critical splice acceptor site probably null
IGL03278:Nanog APN 6 122,688,704 (GRCm39) missense probably damaging 1.00
IGL03387:Nanog APN 6 122,688,731 (GRCm39) missense probably damaging 1.00
R0280:Nanog UTSW 6 122,690,357 (GRCm39) missense probably damaging 0.96
R1443:Nanog UTSW 6 122,688,734 (GRCm39) missense probably damaging 1.00
R2520:Nanog UTSW 6 122,690,418 (GRCm39) missense probably benign 0.08
R4486:Nanog UTSW 6 122,689,676 (GRCm39) critical splice donor site probably null
R4770:Nanog UTSW 6 122,688,550 (GRCm39) missense possibly damaging 0.63
R4790:Nanog UTSW 6 122,684,874 (GRCm39) missense probably benign 0.00
R4825:Nanog UTSW 6 122,690,299 (GRCm39) missense probably benign 0.09
R4931:Nanog UTSW 6 122,684,865 (GRCm39) missense possibly damaging 0.95
R6010:Nanog UTSW 6 122,690,255 (GRCm39) missense probably benign 0.16
R6025:Nanog UTSW 6 122,690,350 (GRCm39) missense possibly damaging 0.94
R7661:Nanog UTSW 6 122,690,431 (GRCm39) missense probably damaging 0.96
R8236:Nanog UTSW 6 122,690,131 (GRCm39) missense probably benign
R8272:Nanog UTSW 6 122,688,736 (GRCm39) missense probably benign 0.00
R8520:Nanog UTSW 6 122,690,475 (GRCm39) missense possibly damaging 0.94
R9500:Nanog UTSW 6 122,690,219 (GRCm39) missense probably damaging 1.00
R9632:Nanog UTSW 6 122,684,799 (GRCm39) missense probably benign 0.00
R9710:Nanog UTSW 6 122,684,799 (GRCm39) missense probably benign 0.00
X0065:Nanog UTSW 6 122,684,752 (GRCm39) missense probably benign
Z1176:Nanog UTSW 6 122,690,190 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCAGTTTACATCTTTAGAGTCCCC -3'
(R):5'- AAAATGCGCATGGCTTTCCC -3'

Sequencing Primer
(F):5'- AGAGTCCCCTTTTCACTCATTG -3'
(R):5'- CCAAATCACTGGCAGAGAAGTTTTG -3'
Posted On 2015-02-05