Incidental Mutation 'IGL01152:Gsc'
ID 52514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsc
Ensembl Gene ENSMUSG00000021095
Gene Name goosecoid homeobox
Synonyms goosecoid
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01152
Quality Score
Status
Chromosome 12
Chromosomal Location 104437468-104439495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104437864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 219 (K219N)
Ref Sequence ENSEMBL: ENSMUSP00000021513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021513]
AlphaFold Q02591
Predicted Effect probably damaging
Transcript: ENSMUST00000021513
AA Change: K219N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021513
Gene: ENSMUSG00000021095
AA Change: K219N

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T G 1: 192,515,947 (GRCm39) noncoding transcript Het
Abcb4 G A 5: 9,000,678 (GRCm39) V1031M probably benign Het
Abcc4 A G 14: 118,836,797 (GRCm39) S655P probably damaging Het
Actn1 T C 12: 80,245,820 (GRCm39) K121R probably damaging Het
Aldh1l2 T A 10: 83,358,750 (GRCm39) R82* probably null Het
Arhgap31 T A 16: 38,422,601 (GRCm39) H1155L possibly damaging Het
Atp8a1 G T 5: 68,004,549 (GRCm39) P2Q probably damaging Het
Bcs1l A G 1: 74,631,174 (GRCm39) M401V possibly damaging Het
Brca2 A T 5: 150,465,855 (GRCm39) N1873I probably damaging Het
Cenpj T C 14: 56,789,757 (GRCm39) N764S probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Clk1 A T 1: 58,452,611 (GRCm39) C359S possibly damaging Het
Clk2 T A 3: 89,083,818 (GRCm39) F479I probably damaging Het
Cul4b T C X: 37,632,247 (GRCm39) M709V probably damaging Het
D130052B06Rik G T 11: 33,573,620 (GRCm39) probably null Het
Dgkb T A 12: 38,134,233 (GRCm39) N46K probably damaging Het
Dnah9 C T 11: 65,962,882 (GRCm39) R1811H probably damaging Het
Dnajc18 T C 18: 35,813,926 (GRCm39) N281S probably benign Het
Galnt5 A T 2: 57,915,405 (GRCm39) I654L probably benign Het
Gm9989 T G 3: 81,829,518 (GRCm39) noncoding transcript Het
Gpr179 T C 11: 97,228,237 (GRCm39) E1306G probably benign Het
Gsx2 A T 5: 75,236,452 (GRCm39) I11F probably damaging Het
Igdcc4 A C 9: 65,042,446 (GRCm39) E121A probably damaging Het
Lama2 C T 10: 27,084,425 (GRCm39) R915H probably benign Het
Large2 A G 2: 92,200,984 (GRCm39) L64P probably damaging Het
Lztr1 C A 16: 17,340,317 (GRCm39) Q136K probably damaging Het
Mageb18 A G X: 91,163,430 (GRCm39) W271R possibly damaging Het
Magoh A C 4: 107,742,203 (GRCm39) probably benign Het
Matcap2 A T 9: 22,346,460 (GRCm39) H356L probably benign Het
Mrgprx1 T C 7: 47,671,234 (GRCm39) H171R probably benign Het
Muc1 C A 3: 89,138,061 (GRCm39) T301K probably benign Het
Nbas C T 12: 13,410,959 (GRCm39) L868F probably damaging Het
Nwd2 A G 5: 63,963,872 (GRCm39) D1152G possibly damaging Het
Or5p68 C T 7: 107,946,156 (GRCm39) A11T probably benign Het
Or7d10 G A 9: 19,832,245 (GRCm39) V247M possibly damaging Het
Ovgp1 T A 3: 105,893,488 (GRCm39) D420E possibly damaging Het
Pacsin3 A G 2: 91,094,121 (GRCm39) D350G probably benign Het
Pcolce2 A T 9: 95,574,976 (GRCm39) N309Y probably damaging Het
Pim2 C A X: 7,744,661 (GRCm39) probably benign Het
Plcb1 A G 2: 134,655,579 (GRCm39) Y53C probably damaging Het
Pogk T C 1: 166,236,047 (GRCm39) E18G probably damaging Het
Pxdn T A 12: 30,051,936 (GRCm39) D704E probably damaging Het
Rb1 C A 14: 73,443,310 (GRCm39) S781I probably damaging Het
Rnpepl1 A G 1: 92,843,621 (GRCm39) H247R possibly damaging Het
Scube1 A T 15: 83,497,771 (GRCm39) F697I probably damaging Het
Sel1l3 G T 5: 53,273,675 (GRCm39) H1064N probably damaging Het
Serinc3 A G 2: 163,478,831 (GRCm39) Y99H probably damaging Het
Slc36a2 T A 11: 55,060,673 (GRCm39) probably benign Het
Smarcc1 A C 9: 109,968,693 (GRCm39) E130A possibly damaging Het
Strc A G 2: 121,201,276 (GRCm39) M1273T probably benign Het
Tmem116 A G 5: 121,601,862 (GRCm39) I21V probably benign Het
Tmem190 T C 7: 4,787,025 (GRCm39) probably benign Het
Trim63 C T 4: 134,052,987 (GRCm39) A316V probably benign Het
Ugt2b34 T C 5: 87,049,062 (GRCm39) E321G probably damaging Het
Zfat T A 15: 67,982,353 (GRCm39) R1053S probably damaging Het
Other mutations in Gsc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0441:Gsc UTSW 12 104,439,353 (GRCm39) missense probably damaging 0.99
R1140:Gsc UTSW 12 104,439,361 (GRCm39) missense probably damaging 0.99
R4888:Gsc UTSW 12 104,438,274 (GRCm39) missense probably damaging 0.99
R7624:Gsc UTSW 12 104,439,310 (GRCm39) missense possibly damaging 0.77
R7857:Gsc UTSW 12 104,438,424 (GRCm39) missense probably damaging 1.00
R7901:Gsc UTSW 12 104,439,131 (GRCm39) missense possibly damaging 0.74
R9178:Gsc UTSW 12 104,439,120 (GRCm39) nonsense probably null
R9182:Gsc UTSW 12 104,439,120 (GRCm39) nonsense probably null
R9334:Gsc UTSW 12 104,439,353 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21