Incidental Mutation 'IGL00813:Shox2'
ID14009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shox2
Ensembl Gene ENSMUSG00000027833
Gene Nameshort stature homeobox 2
SynonymsPrx3, 6330543G17Rik, Og12x
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.671) question?
Stock #IGL00813
Quality Score
Status
Chromosome3
Chromosomal Location66971727-66981771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 66975444 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 105 (Q105H)
Ref Sequence ENSEMBL: ENSMUSP00000124924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029422] [ENSMUST00000162060] [ENSMUST00000162439] [ENSMUST00000195261]
Predicted Effect probably damaging
Transcript: ENSMUST00000029422
AA Change: Q234H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029422
Gene: ENSMUSG00000027833
AA Change: Q234H

DomainStartEndE-ValueType
low complexity region 57 90 N/A INTRINSIC
HOX 140 202 1.8e-28 SMART
low complexity region 258 273 N/A INTRINSIC
Pfam:OAR 310 327 3.3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162060
AA Change: Q105H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125031
Gene: ENSMUSG00000027833
AA Change: Q105H

DomainStartEndE-ValueType
HOX 11 73 1.8e-28 SMART
low complexity region 117 132 N/A INTRINSIC
Pfam:OAR 167 187 9.7e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162098
AA Change: Q154H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123838
Gene: ENSMUSG00000027833
AA Change: Q154H

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
HOX 61 123 1.8e-28 SMART
low complexity region 167 182 N/A INTRINSIC
Pfam:OAR 219 236 1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162439
AA Change: Q105H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124924
Gene: ENSMUSG00000027833
AA Change: Q105H

DomainStartEndE-ValueType
HOX 11 73 1.8e-28 SMART
low complexity region 117 132 N/A INTRINSIC
Pfam:OAR 167 187 9.7e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000195261
AA Change: Q105H

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141625
Gene: ENSMUSG00000027833
AA Change: Q105H

DomainStartEndE-ValueType
HOX 11 73 9e-31 SMART
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 is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygous null mice display incomplete penetrance of embryonic lethality during organogenesis and incomplete clefting of the anterior part of the palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,353,762 probably null Het
Aco1 T C 4: 40,180,290 probably null Het
Bloc1s5 T C 13: 38,619,182 N76S probably damaging Het
Cyp3a44 A T 5: 145,774,347 *505R probably null Het
Epor T C 9: 21,960,591 T253A possibly damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Gm884 A C 11: 103,614,498 F2215V probably benign Het
Hecw1 T A 13: 14,278,376 probably null Het
Hhla1 A T 15: 65,941,961 V209E probably damaging Het
Ino80d G A 1: 63,093,303 P67L probably damaging Het
Lysmd3 C A 13: 81,665,242 N76K probably damaging Het
Map10 G A 8: 125,671,932 R688Q probably benign Het
Mars A T 10: 127,300,047 M554K probably damaging Het
Mgat5 G A 1: 127,384,806 M227I probably benign Het
Nup210l A G 3: 90,132,418 I389V probably benign Het
Ppp1r16b A G 2: 158,756,965 K315R probably damaging Het
Rae1 A G 2: 173,006,933 D114G probably damaging Het
Rbms1 T C 2: 60,797,705 K64E probably damaging Het
Simc1 C A 13: 54,546,986 F293L probably damaging Het
Slc11a1 A G 1: 74,383,480 I289V probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Stk32a T A 18: 43,310,520 V254E probably benign Het
Them5 A G 3: 94,343,288 K53E probably damaging Het
Tmem67 T C 4: 12,058,587 probably benign Het
Wdr7 T A 18: 63,735,604 L248Q possibly damaging Het
Other mutations in Shox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Shox2 APN 3 66981441 missense possibly damaging 0.49
IGL01534:Shox2 APN 3 66978363 missense probably benign 0.01
IGL01583:Shox2 APN 3 66973771 unclassified probably benign
R0306:Shox2 UTSW 3 66973834 missense probably damaging 0.98
R0374:Shox2 UTSW 3 66973851 missense probably damaging 0.98
R0625:Shox2 UTSW 3 66981544 critical splice donor site probably null
R0774:Shox2 UTSW 3 66973811 missense probably damaging 1.00
R1102:Shox2 UTSW 3 66978295 missense probably damaging 1.00
R1192:Shox2 UTSW 3 66973910 nonsense probably null
R2354:Shox2 UTSW 3 66981489 missense possibly damaging 0.94
R2518:Shox2 UTSW 3 66978359 missense possibly damaging 0.83
R4163:Shox2 UTSW 3 66973771 unclassified probably benign
R4976:Shox2 UTSW 3 66973675 unclassified probably benign
R5423:Shox2 UTSW 3 66973754 unclassified probably benign
R5493:Shox2 UTSW 3 66981463 missense probably damaging 1.00
R6528:Shox2 UTSW 3 66981285 missense probably benign 0.00
Posted On2012-12-06