Incidental Mutation 'R1140:Gsc'
ID102053
Institutional Source Beutler Lab
Gene Symbol Gsc
Ensembl Gene ENSMUSG00000021095
Gene Namegoosecoid homeobox
Synonyms
MMRRC Submission 039213-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1140 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location104471209-104473330 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104473102 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 5 (M5K)
Ref Sequence ENSEMBL: ENSMUSP00000021513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021513]
Predicted Effect probably damaging
Transcript: ENSMUST00000021513
AA Change: M5K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021513
Gene: ENSMUSG00000021095
AA Change: M5K

DomainStartEndE-ValueType
low complexity region 21 37 N/A INTRINSIC
low complexity region 59 74 N/A INTRINSIC
HOX 160 222 1.58e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224847
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit craniofacial abnormalities affecting the mandible, nasal cavities and pits, tongue, and inner ear, and skeletal defects involving ribs, sternum, shoulder and hip. Mutants die neonatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik T A 8: 120,150,135 S161T probably damaging Het
Ahnak T A 19: 9,004,245 D964E probably damaging Het
Aldh18a1 T C 19: 40,574,285 I215V probably benign Het
Arfgef3 T A 10: 18,597,348 I1656F possibly damaging Het
Aurka T C 2: 172,357,229 D285G probably damaging Het
Cep83 A G 10: 94,737,890 K214E probably damaging Het
Dis3l2 A T 1: 86,821,438 T209S probably benign Het
Dock7 A G 4: 99,065,406 M363T possibly damaging Het
Dsc2 C A 18: 20,032,212 K901N probably damaging Het
Fam234b A T 6: 135,225,758 H370L probably benign Het
Fanca A C 8: 123,313,129 probably null Het
Fastkd5 C T 2: 130,616,215 V152I probably benign Het
Fndc1 T C 17: 7,775,426 R337G unknown Het
Fsip2 T A 2: 82,975,034 Y566N probably damaging Het
Muc5b A G 7: 141,858,996 E1893G unknown Het
Myh7 T C 14: 54,972,882 T1789A probably damaging Het
Npr2 A G 4: 43,648,353 T884A possibly damaging Het
Olfr389 T A 11: 73,776,854 M158L probably benign Het
Parg T C 14: 32,296,243 S432P probably benign Het
Ptdss1 T C 13: 66,963,356 V162A probably benign Het
Samsn1 C T 16: 75,888,742 E43K possibly damaging Het
Sis C T 3: 72,951,616 V361I probably damaging Het
Speg A T 1: 75,429,095 N2981I probably damaging Het
Stk32c C T 7: 139,125,179 R23Q probably damaging Het
Taok3 T C 5: 117,228,053 S231P possibly damaging Het
Tbc1d2b A G 9: 90,226,376 V374A possibly damaging Het
Xxylt1 T A 16: 31,007,848 probably null Het
Other mutations in Gsc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Gsc APN 12 104471605 missense probably damaging 1.00
R0441:Gsc UTSW 12 104473094 missense probably damaging 0.99
R4888:Gsc UTSW 12 104472015 missense probably damaging 0.99
R7624:Gsc UTSW 12 104473051 missense possibly damaging 0.77
R7857:Gsc UTSW 12 104472165 missense probably damaging 1.00
R7901:Gsc UTSW 12 104472872 missense possibly damaging 0.74
R7940:Gsc UTSW 12 104472165 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15