Incidental Mutation 'IGL03278:Nanog'
ID 415487
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nanog
Ensembl Gene ENSMUSG00000012396
Gene Name Nanog homeobox
Synonyms ENK, 2410002E02Rik, ecat4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03278
Quality Score
Status
Chromosome 6
Chromosomal Location 122684448-122691592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122688704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 95 (Y95C)
Ref Sequence ENSEMBL: ENSMUSP00000108200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012540] [ENSMUST00000112580] [ENSMUST00000112581]
AlphaFold Q80Z64
Predicted Effect probably damaging
Transcript: ENSMUST00000012540
AA Change: Y120C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012540
Gene: ENSMUSG00000012396
AA Change: Y120C

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 probably damaging
Transcript: ENSMUST00000112580
AA Change: Y95C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108199
Gene: ENSMUSG00000012396
AA Change: Y95C

DomainStartEndE-ValueType
HOX 71 133 5.33e-22 SMART
low complexity region 181 205 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112581
AA Change: Y95C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108200
Gene: ENSMUSG00000012396
AA Change: Y95C

DomainStartEndE-ValueType
HOX 71 133 5.33e-22 SMART
low complexity region 181 205 N/A INTRINSIC
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,205,599 (GRCm39) probably benign Het
Acss2 A G 2: 155,403,921 (GRCm39) D676G possibly damaging Het
Antxr1 A G 6: 87,181,439 (GRCm39) probably benign Het
Ccdc134 C T 15: 82,015,682 (GRCm39) A54V possibly damaging Het
Ccdc40 A T 11: 119,133,336 (GRCm39) I465F probably damaging Het
Cdk5rap1 A T 2: 154,212,622 (GRCm39) S79T probably benign Het
Col6a6 T C 9: 105,586,651 (GRCm39) E1790G probably benign Het
Cops8 C A 1: 90,532,087 (GRCm39) probably null Het
Dnah7a T C 1: 53,536,124 (GRCm39) T2640A probably benign Het
F2 G A 2: 91,465,527 (GRCm39) A86V probably benign Het
Fhip1b C A 7: 105,034,331 (GRCm39) M433I possibly damaging Het
Gabrb1 T G 5: 72,026,939 (GRCm39) D113E probably damaging Het
Git2 C A 5: 114,883,640 (GRCm39) probably benign Het
Git2 A T 5: 114,883,641 (GRCm39) probably null Het
Gm4847 A T 1: 166,462,605 (GRCm39) I295N probably benign Het
H2-M10.6 C A 17: 37,124,715 (GRCm39) H211N probably damaging Het
Hmgcr A G 13: 96,793,270 (GRCm39) probably benign Het
Larp1 T C 11: 57,934,882 (GRCm39) probably benign Het
Lrguk A G 6: 34,093,381 (GRCm39) E634G possibly damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nfe2l1 C A 11: 96,713,018 (GRCm39) R55L probably benign Het
Or1f19 C T 16: 3,410,971 (GRCm39) A237V possibly damaging Het
Pkmyt1 A G 17: 23,953,221 (GRCm39) E259G probably damaging Het
Pld4 A G 12: 112,733,165 (GRCm39) N247S probably damaging Het
Prdm4 A T 10: 85,743,622 (GRCm39) M211K probably damaging Het
Rab37 A C 11: 115,050,517 (GRCm39) I121L possibly damaging Het
Rabl6 T C 2: 25,473,834 (GRCm39) probably benign Het
Slc34a3 A T 2: 25,122,059 (GRCm39) V154E probably benign Het
Slc38a9 T G 13: 112,826,052 (GRCm39) probably benign Het
Sptlc3 G A 2: 139,431,579 (GRCm39) G367D probably damaging Het
Stk24 T C 14: 121,540,182 (GRCm39) K139R possibly damaging Het
Tacc2 T C 7: 130,335,298 (GRCm39) probably null Het
Tap1 A T 17: 34,410,457 (GRCm39) K378M probably damaging Het
Tfr2 A T 5: 137,569,298 (GRCm39) R10* probably null Het
Trim38 A G 13: 23,974,979 (GRCm39) D306G possibly damaging Het
Ttc6 A T 12: 57,668,812 (GRCm39) K418I probably damaging Het
Ush2a T A 1: 188,581,313 (GRCm39) L3731Q probably damaging Het
Vmn2r89 A T 14: 51,692,557 (GRCm39) Y120F probably damaging Het
Vps35 A T 8: 86,021,590 (GRCm39) probably benign Het
Other mutations in Nanog
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Nanog APN 6 122,688,495 (GRCm39) critical splice acceptor site probably null
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
R3037:Nanog UTSW 6 122,690,227 (GRCm39) missense possibly damaging 0.81
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
Posted On 2016-08-02