Incidental Mutation 'IGL00475:Nanog'
ID5376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nanog
Ensembl Gene ENSMUSG00000012396
Gene NameNanog homeobox
Synonyms2410002E02Rik, ecat4, ENK
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00475
Quality Score
Status
Chromosome6
Chromosomal Location122707489-122714633 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 122711536 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012540] [ENSMUST00000012540] [ENSMUST00000112580] [ENSMUST00000112580] [ENSMUST00000112581] [ENSMUST00000112581]
Predicted Effect probably null
Transcript: ENSMUST00000012540
SMART Domains Protein: ENSMUSP00000012540
Gene: ENSMUSG00000012396

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 null
Transcript: ENSMUST00000012540
SMART Domains Protein: ENSMUSP00000012540
Gene: ENSMUSG00000012396

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 null
Transcript: ENSMUST00000112580
SMART Domains Protein: ENSMUSP00000108199
Gene: ENSMUSG00000012396

DomainStartEndE-ValueType
HOX 71 133 5.33e-22 SMART
low complexity region 181 205 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112580
SMART Domains Protein: ENSMUSP00000108199
Gene: ENSMUSG00000012396

DomainStartEndE-ValueType
HOX 71 133 5.33e-22 SMART
low complexity region 181 205 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112581
SMART Domains Protein: ENSMUSP00000108200
Gene: ENSMUSG00000012396

DomainStartEndE-ValueType
HOX 71 133 5.33e-22 SMART
low complexity region 181 205 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112581
SMART Domains Protein: ENSMUSP00000108200
Gene: ENSMUSG00000012396

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G A 16: 14,436,573 A583T probably damaging Het
Cdh10 A T 15: 19,013,263 I650F probably damaging Het
Ces1a A G 8: 93,020,467 L548P probably damaging Het
Commd9 C T 2: 101,895,156 R25* probably null Het
Depdc1b T A 13: 108,357,440 Y121N probably benign Het
Epha6 A T 16: 59,915,962 F736L probably damaging Het
Fancd2 A G 6: 113,568,610 K868R probably benign Het
Fgd1 C T X: 151,072,444 A502V probably benign Het
Gm5111 A T 6: 48,589,686 probably benign Het
Gria1 G T 11: 57,242,941 G480* probably null Het
Krt5 T C 15: 101,712,641 Y57C unknown Het
Metap1d C T 2: 71,515,746 A217V probably damaging Het
Mrpl1 A G 5: 96,226,285 K140E probably damaging Het
Mta3 C T 17: 83,708,432 P21L probably damaging Het
Ogn A G 13: 49,622,915 I277V probably benign Het
Pole T A 5: 110,291,096 Y187* probably null Het
Psme4 A T 11: 30,845,252 K1254I probably benign Het
Rac1 G A 5: 143,507,338 A165V possibly damaging Het
Srcap T A 7: 127,552,921 M2185K possibly damaging Het
Svep1 T A 4: 58,176,077 D274V probably damaging Het
Taf2 A T 15: 55,055,850 Y376* probably null Het
Tead1 C A 7: 112,839,455 T66K probably damaging Het
Vps53 C T 11: 76,077,035 probably null Het
Zfp658 A G 7: 43,574,076 R592G possibly damaging Het
Zfyve1 T A 12: 83,555,711 probably null Het
Other mutations in Nanog
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03278:Nanog APN 6 122711745 missense probably damaging 1.00
IGL03387:Nanog APN 6 122711772 missense probably damaging 1.00
R0280:Nanog UTSW 6 122713398 missense probably damaging 0.96
R1443:Nanog UTSW 6 122711775 missense probably damaging 1.00
R2520:Nanog UTSW 6 122713459 missense probably benign 0.08
R3037:Nanog UTSW 6 122713268 missense possibly damaging 0.81
R4486:Nanog UTSW 6 122712717 critical splice donor site probably null
R4770:Nanog UTSW 6 122711591 missense possibly damaging 0.63
R4790:Nanog UTSW 6 122707915 missense probably benign 0.00
R4825:Nanog UTSW 6 122713340 missense probably benign 0.09
R4931:Nanog UTSW 6 122707906 missense possibly damaging 0.95
R6010:Nanog UTSW 6 122713296 missense probably benign 0.16
R6025:Nanog UTSW 6 122713391 missense possibly damaging 0.94
R7661:Nanog UTSW 6 122713472 missense probably damaging 0.96
R8236:Nanog UTSW 6 122713172 missense probably benign
R8272:Nanog UTSW 6 122711777 missense probably benign 0.00
X0065:Nanog UTSW 6 122707793 missense probably benign
Z1176:Nanog UTSW 6 122713231 nonsense probably null
Posted On2012-04-20