Incidental Mutation 'IGL03387:Nanog'
ID 420910
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 # IGL03387
Quality Score
Status
Chromosome 6
Chromosomal Location 122684448-122691592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122688731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 104 (L104P)
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: L129P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012540
Gene: ENSMUSG00000012396
AA Change: L129P

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: L104P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108199
Gene: ENSMUSG00000012396
AA Change: L104P

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: L104P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108200
Gene: ENSMUSG00000012396
AA Change: L104P

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A C 13: 68,878,486 (GRCm39) I384S probably damaging Het
Atxn7 T C 14: 14,087,273 (GRCm38) probably benign Het
Blm A T 7: 80,143,895 (GRCm39) V848D probably damaging Het
Cul1 G T 6: 47,478,143 (GRCm39) L175F probably damaging Het
Cyp4a29 A G 4: 115,108,368 (GRCm39) H364R possibly damaging Het
Ddx60 A G 8: 62,465,483 (GRCm39) D1380G probably damaging Het
Det1 A T 7: 78,493,372 (GRCm39) C211S possibly damaging Het
Dnaaf9 A G 2: 130,559,200 (GRCm39) Y822H probably damaging Het
F5 A C 1: 164,020,801 (GRCm39) Q1092P probably damaging Het
Fam117b A C 1: 59,992,119 (GRCm39) Y256S probably benign Het
Fbxl13 A G 5: 21,728,796 (GRCm39) probably null Het
Galnt7 A G 8: 57,979,212 (GRCm39) I637T probably benign Het
H2-T24 T A 17: 36,317,671 (GRCm39) K120N unknown Het
Hes2 A G 4: 152,244,269 (GRCm39) K18R probably damaging Het
Icam5 A T 9: 20,945,097 (GRCm39) Q220L probably benign Het
Kdm8 G A 7: 125,054,278 (GRCm39) A170T probably benign Het
Krt40 G A 11: 99,430,711 (GRCm39) A321V probably damaging Het
Mapkbp1 T A 2: 119,828,979 (GRCm39) V45D probably damaging Het
Mbip A G 12: 56,382,597 (GRCm39) Y290H probably damaging Het
Mical1 A G 10: 41,354,195 (GRCm39) Y48C probably damaging Het
Mslnl T C 17: 25,963,051 (GRCm39) S300P probably benign Het
Or10ak11 T C 4: 118,687,238 (GRCm39) Y132C probably damaging Het
Or4c113 A T 2: 88,885,457 (GRCm39) H104Q probably damaging Het
Or4f60 T A 2: 111,902,007 (GRCm39) Y307F probably benign Het
Or52n2c A T 7: 104,574,580 (GRCm39) N130K probably benign Het
Oxgr1 C A 14: 120,260,199 (GRCm39) E3* probably null Het
Pam16 A T 16: 4,434,671 (GRCm39) probably benign Het
Plcb1 A T 2: 134,655,606 (GRCm39) probably benign Het
Slc25a32 A T 15: 38,969,359 (GRCm39) V58E probably benign Het
Slc2a12 G T 10: 22,541,134 (GRCm39) V330F probably damaging Het
Slit1 T C 19: 41,591,881 (GRCm39) E1247G possibly damaging Het
Supt5 A T 7: 28,019,508 (GRCm39) C519S possibly damaging Het
Szt2 A G 4: 118,221,922 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,180 (GRCm39) W294R possibly damaging Het
Tex21 A T 12: 76,245,694 (GRCm39) M534K probably damaging Het
Tmem132c T C 5: 127,640,784 (GRCm39) I985T probably benign Het
Tmem87b T C 2: 128,665,019 (GRCm39) V61A probably benign Het
Trhr2 G A 8: 123,085,220 (GRCm39) probably benign Het
Ttc28 A G 5: 111,381,208 (GRCm39) D1209G probably benign Het
Uchl5 A G 1: 143,677,940 (GRCm39) E148G probably benign Het
Wdr62 T C 7: 29,970,199 (GRCm39) I203V possibly damaging Het
Wnk1 T C 6: 119,931,148 (GRCm39) I799V possibly damaging 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
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