Incidental Mutation 'IGL01534:Shox2'
ID89900
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 #IGL01534
Quality Score
Status
Chromosome3
Chromosomal Location66971727-66981771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 66978363 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 126 (D126E)
Ref Sequence ENSEMBL: ENSMUSP00000029422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029422] [ENSMUST00000162036] [ENSMUST00000162060] [ENSMUST00000162439] [ENSMUST00000195261]
Predicted Effect probably benign
Transcript: ENSMUST00000029422
AA Change: D126E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000029422
Gene: ENSMUSG00000027833
AA Change: D126E

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 benign
Transcript: ENSMUST00000162036
SMART Domains Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544

DomainStartEndE-ValueType
low complexity region 3 95 N/A INTRINSIC
low complexity region 98 159 N/A INTRINSIC
coiled coil region 180 233 N/A INTRINSIC
low complexity region 265 278 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162060
SMART Domains Protein: ENSMUSP00000125031
Gene: ENSMUSG00000027833

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 benign
Transcript: ENSMUST00000162098
AA Change: D46E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123838
Gene: ENSMUSG00000027833
AA Change: D46E

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 benign
Transcript: ENSMUST00000162439
SMART Domains Protein: ENSMUSP00000124924
Gene: ENSMUSG00000027833

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 benign
Transcript: ENSMUST00000195261
SMART Domains Protein: ENSMUSP00000141625
Gene: ENSMUSG00000027833

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,081 L111P possibly damaging Het
Adck5 C A 15: 76,594,726 H383Q probably damaging Het
Asns T A 6: 7,675,397 H535L probably benign Het
Atf5 A G 7: 44,813,038 S221P probably damaging Het
Atr T C 9: 95,865,546 Y294H probably damaging Het
B230307C23Rik A G 16: 98,008,761 probably benign Het
C1qtnf6 C T 15: 78,525,216 E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 probably benign Het
Cd48 C A 1: 171,695,739 P50Q possibly damaging Het
Cnnm4 T C 1: 36,499,515 Y593H probably benign Het
Col27a1 G A 4: 63,225,782 R569Q probably benign Het
Cubn A T 2: 13,465,933 C549* probably null Het
Dsg1a T A 18: 20,340,996 M1042K probably benign Het
Dzip1 T A 14: 118,877,239 T835S probably damaging Het
Eif3c T C 7: 126,557,695 T389A probably benign Het
Erlin2 G T 8: 27,031,957 E177* probably null Het
Fam172a T A 13: 77,999,711 probably benign Het
Gabrb1 T A 5: 71,869,429 S91T possibly damaging Het
Grik3 T C 4: 125,686,190 V576A probably damaging Het
Gtpbp2 T A 17: 46,163,504 Y70N probably damaging Het
Idh3a T A 9: 54,601,222 probably benign Het
Ift74 G A 4: 94,679,944 R406H probably benign Het
Kcna7 C A 7: 45,406,511 N50K probably damaging Het
Kcnd2 T C 6: 21,726,145 S546P probably benign Het
Lrp4 G A 2: 91,473,641 D134N probably damaging Het
Mcm2 A G 6: 88,887,718 probably null Het
Nlrp12 T C 7: 3,239,833 Y683C probably benign Het
Olfr1104 A G 2: 87,021,884 I220T probably damaging Het
Olfr114 A T 17: 37,590,072 Y94N possibly damaging Het
Olfr1499 T A 19: 13,815,302 H96L probably benign Het
Olfr1502 A T 19: 13,861,919 N42I probably damaging Het
Olfr710 T A 7: 106,944,339 I221F probably damaging Het
P2rx7 A C 5: 122,676,698 I409L probably damaging Het
Pde10a A G 17: 8,944,970 N191S probably damaging Het
Rabggtb A G 3: 153,910,259 probably null Het
Rgs4 A T 1: 169,744,516 C71* probably null Het
Rnase10 T C 14: 51,007,979 F5L probably benign Het
Scn11a T A 9: 119,780,822 T987S probably benign Het
Slc12a1 A G 2: 125,217,910 D910G probably damaging Het
Slc15a1 C T 14: 121,464,952 C594Y possibly damaging Het
Spock2 C T 10: 60,127,061 probably benign Het
Togaram1 G T 12: 64,966,547 D191Y probably damaging Het
Triml2 T C 8: 43,187,623 V172A probably benign Het
Tubb3 C T 8: 123,420,966 R213C probably benign Het
Vmn2r4 A T 3: 64,406,423 V379E probably damaging Het
Zfp446 C T 7: 12,979,566 P153L probably damaging Het
Zfp608 A T 18: 54,898,932 N645K probably damaging Het
Other mutations in Shox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Shox2 APN 3 66981441 missense possibly damaging 0.49
IGL00813:Shox2 APN 3 66975444 missense probably damaging 1.00
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 On2013-12-03