Incidental Mutation 'IGL03387:Nanog'
ID420910
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 #IGL03387
Quality Score
Status
Chromosome6
Chromosomal Location122707489-122714633 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122711772 bp
ZygosityHeterozygous
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]
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
4930402H24Rik A G 2: 130,717,280 Y822H probably damaging Het
Adcy2 A C 13: 68,730,367 I384S probably damaging Het
Atxn7 T C 14: 14,087,273 probably benign Het
Blm A T 7: 80,494,147 V848D probably damaging Het
Cul1 G T 6: 47,501,209 L175F probably damaging Het
Cyp4a29 A G 4: 115,251,171 H364R possibly damaging Het
Ddx60 A G 8: 62,012,449 D1380G probably damaging Het
Det1 A T 7: 78,843,624 C211S possibly damaging Het
F5 A C 1: 164,193,232 Q1092P probably damaging Het
Fam117b A C 1: 59,952,960 Y256S probably benign Het
Fbxl13 A G 5: 21,523,798 probably null Het
Galnt7 A G 8: 57,526,178 I637T probably benign Het
H2-T24 T A 17: 36,006,779 K120N unknown Het
Hes2 A G 4: 152,159,812 K18R probably damaging Het
Icam5 A T 9: 21,033,801 Q220L probably benign Het
Kdm8 G A 7: 125,455,106 A170T probably benign Het
Krt40 G A 11: 99,539,885 A321V probably damaging Het
Mapkbp1 T A 2: 119,998,498 V45D probably damaging Het
Mbip A G 12: 56,335,812 Y290H probably damaging Het
Mical1 A G 10: 41,478,199 Y48C probably damaging Het
Mslnl T C 17: 25,744,077 S300P probably benign Het
Olfr1218 A T 2: 89,055,113 H104Q probably damaging Het
Olfr1313 T A 2: 112,071,662 Y307F probably benign Het
Olfr1333 T C 4: 118,830,041 Y132C probably damaging Het
Olfr668 A T 7: 104,925,373 N130K probably benign Het
Oxgr1 C A 14: 120,022,787 E3* probably null Het
Pam16 A T 16: 4,616,807 probably benign Het
Plcb1 A T 2: 134,813,686 probably benign Het
Slc25a32 A T 15: 39,105,964 V58E probably benign Het
Slc2a12 G T 10: 22,665,235 V330F probably damaging Het
Slit1 T C 19: 41,603,442 E1247G possibly damaging Het
Supt5 A T 7: 28,320,083 C519S possibly damaging Het
Szt2 A G 4: 118,364,725 probably benign Het
Tas2r118 A G 6: 23,969,181 W294R possibly damaging Het
Tex21 A T 12: 76,198,920 M534K probably damaging Het
Tmem132c T C 5: 127,563,720 I985T probably benign Het
Tmem87b T C 2: 128,823,099 V61A probably benign Het
Trhr2 G A 8: 122,358,481 probably benign Het
Ttc28 A G 5: 111,233,342 D1209G probably benign Het
Uchl5 A G 1: 143,802,202 E148G probably benign Het
Wdr62 T C 7: 30,270,774 I203V possibly damaging Het
Wnk1 T C 6: 119,954,187 I799V possibly damaging Het
Other mutations in Nanog
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Nanog APN 6 122711536 critical splice acceptor site probably null
IGL03278:Nanog APN 6 122711745 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 On2016-08-02