Incidental Mutation 'IGL01534:Shox2'
ID 89900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shox2
Ensembl Gene ENSMUSG00000027833
Gene Name SHOX homeobox 2
Synonyms Og12x, Prx3, 6330543G17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01534
Quality Score
Status
Chromosome 3
Chromosomal Location 66879060-66889104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 66885696 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P70390
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: 122,197,146 (GRCm39) L111P possibly damaging Het
Adck5 C A 15: 76,478,926 (GRCm39) H383Q probably damaging Het
Arb2a T A 13: 78,147,830 (GRCm39) probably benign Het
Asns T A 6: 7,675,397 (GRCm39) H535L probably benign Het
Atf5 A G 7: 44,462,462 (GRCm39) S221P probably damaging Het
Atr T C 9: 95,747,599 (GRCm39) Y294H probably damaging Het
B230307C23Rik A G 16: 97,809,961 (GRCm39) probably benign Het
C1qtnf6 C T 15: 78,409,416 (GRCm39) E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 (GRCm39) probably benign Het
Cd48 C A 1: 171,523,307 (GRCm39) P50Q possibly damaging Het
Cnnm4 T C 1: 36,538,596 (GRCm39) Y593H probably benign Het
Col27a1 G A 4: 63,144,019 (GRCm39) R569Q probably benign Het
Cubn A T 2: 13,470,744 (GRCm39) C549* probably null Het
Dsg1a T A 18: 20,474,053 (GRCm39) M1042K probably benign Het
Dzip1 T A 14: 119,114,651 (GRCm39) T835S probably damaging Het
Eif3c T C 7: 126,156,867 (GRCm39) T389A probably benign Het
Erlin2 G T 8: 27,521,985 (GRCm39) E177* probably null Het
Gabrb1 T A 5: 72,026,772 (GRCm39) S91T possibly damaging Het
Grik3 T C 4: 125,579,983 (GRCm39) V576A probably damaging Het
Gtpbp2 T A 17: 46,474,430 (GRCm39) Y70N probably damaging Het
Idh3a T A 9: 54,508,506 (GRCm39) probably benign Het
Ift74 G A 4: 94,568,181 (GRCm39) R406H probably benign Het
Kcna7 C A 7: 45,055,935 (GRCm39) N50K probably damaging Het
Kcnd2 T C 6: 21,726,144 (GRCm39) S546P probably benign Het
Lrp4 G A 2: 91,303,986 (GRCm39) D134N probably damaging Het
Mcm2 A G 6: 88,864,700 (GRCm39) probably null Het
Nlrp12 T C 7: 3,288,463 (GRCm39) Y683C probably benign Het
Or14j3 A T 17: 37,900,963 (GRCm39) Y94N possibly damaging Het
Or2d4 T A 7: 106,543,546 (GRCm39) I221F probably damaging Het
Or8i2 A G 2: 86,852,228 (GRCm39) I220T probably damaging Het
Or9i1 A T 19: 13,839,283 (GRCm39) N42I probably damaging Het
Or9i14 T A 19: 13,792,666 (GRCm39) H96L probably benign Het
P2rx7 A C 5: 122,814,761 (GRCm39) I409L probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Rabggtb A G 3: 153,615,896 (GRCm39) probably null Het
Rgs4 A T 1: 169,572,085 (GRCm39) C71* probably null Het
Rnase10 T C 14: 51,245,436 (GRCm39) F5L probably benign Het
Scn11a T A 9: 119,609,888 (GRCm39) T987S probably benign Het
Slc12a1 A G 2: 125,059,830 (GRCm39) D910G probably damaging Het
Slc15a1 C T 14: 121,702,364 (GRCm39) C594Y possibly damaging Het
Spock2 C T 10: 59,962,883 (GRCm39) probably benign Het
Togaram1 G T 12: 65,013,321 (GRCm39) D191Y probably damaging Het
Triml2 T C 8: 43,640,660 (GRCm39) V172A probably benign Het
Tubb3 C T 8: 124,147,705 (GRCm39) R213C probably benign Het
Vmn2r4 A T 3: 64,313,844 (GRCm39) V379E probably damaging Het
Zfp446 C T 7: 12,713,493 (GRCm39) P153L probably damaging Het
Zfp608 A T 18: 55,032,004 (GRCm39) N645K probably damaging Het
Other mutations in Shox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Shox2 APN 3 66,888,774 (GRCm39) missense possibly damaging 0.49
IGL00813:Shox2 APN 3 66,882,777 (GRCm39) missense probably damaging 1.00
IGL01583:Shox2 APN 3 66,881,104 (GRCm39) unclassified probably benign
R0306:Shox2 UTSW 3 66,881,167 (GRCm39) missense probably damaging 0.98
R0374:Shox2 UTSW 3 66,881,184 (GRCm39) missense probably damaging 0.98
R0625:Shox2 UTSW 3 66,888,877 (GRCm39) critical splice donor site probably null
R0774:Shox2 UTSW 3 66,881,144 (GRCm39) missense probably damaging 1.00
R1102:Shox2 UTSW 3 66,885,628 (GRCm39) missense probably damaging 1.00
R1192:Shox2 UTSW 3 66,881,243 (GRCm39) nonsense probably null
R2354:Shox2 UTSW 3 66,888,822 (GRCm39) missense possibly damaging 0.94
R2518:Shox2 UTSW 3 66,885,692 (GRCm39) missense possibly damaging 0.83
R4163:Shox2 UTSW 3 66,881,104 (GRCm39) unclassified probably benign
R4976:Shox2 UTSW 3 66,881,008 (GRCm39) unclassified probably benign
R5423:Shox2 UTSW 3 66,881,087 (GRCm39) unclassified probably benign
R5493:Shox2 UTSW 3 66,888,796 (GRCm39) missense probably damaging 1.00
R6528:Shox2 UTSW 3 66,888,618 (GRCm39) missense probably benign 0.00
RF020:Shox2 UTSW 3 66,881,146 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03