Incidental Mutation 'IGL01583:Shox2'
ID 91431
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 # IGL01583
Quality Score
Status
Chromosome 3
Chromosomal Location 66879060-66889104 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 66881104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029422] [ENSMUST00000162060] [ENSMUST00000162439] [ENSMUST00000195261]
AlphaFold P70390
Predicted Effect unknown
Transcript: ENSMUST00000029422
AA Change: D292G
SMART Domains Protein: ENSMUSP00000029422
Gene: ENSMUSG00000027833
AA Change: D292G

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 unknown
Transcript: ENSMUST00000162060
AA Change: D151G
SMART Domains Protein: ENSMUSP00000125031
Gene: ENSMUSG00000027833
AA Change: D151G

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 unknown
Transcript: ENSMUST00000162098
AA Change: D200G
SMART Domains Protein: ENSMUSP00000123838
Gene: ENSMUSG00000027833
AA Change: D200G

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 unknown
Transcript: ENSMUST00000162439
AA Change: D151G
SMART Domains Protein: ENSMUSP00000124924
Gene: ENSMUSG00000027833
AA Change: D151G

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
Meta Mutation Damage Score 0.0990 question?
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,126,753 (GRCm39) M329K possibly damaging Het
Abce1 G A 8: 80,420,076 (GRCm39) T300M probably damaging Het
Acap1 G A 11: 69,772,503 (GRCm39) S536L probably damaging Het
Adcy5 C A 16: 35,103,883 (GRCm39) probably benign Het
Ap2b1 G T 11: 83,215,437 (GRCm39) R127L possibly damaging Het
Asxl3 T G 18: 22,649,654 (GRCm39) S548A probably benign Het
Atm G A 9: 53,395,547 (GRCm39) probably benign Het
Cep250 T C 2: 155,818,069 (GRCm39) V807A probably damaging Het
Ces1g T A 8: 94,033,587 (GRCm39) Y445F probably damaging Het
Cnksr3 A G 10: 7,070,512 (GRCm39) Y241H probably benign Het
Col9a1 T C 1: 24,224,225 (GRCm39) S136P unknown Het
Cux2 C A 5: 122,012,170 (GRCm39) G422W probably damaging Het
Cyp1a2 A T 9: 57,589,655 (GRCm39) M53K probably benign Het
Ddx20 T C 3: 105,593,986 (GRCm39) D123G probably damaging Het
Dock4 T A 12: 40,860,466 (GRCm39) L1284* probably null Het
Dpp9 A C 17: 56,518,666 (GRCm39) L46R probably benign Het
Elavl1 A T 8: 4,351,699 (GRCm39) V139E probably damaging Het
Fndc3b T C 3: 27,483,144 (GRCm39) Y1018C probably damaging Het
Fubp1 A G 3: 151,921,261 (GRCm39) N78D possibly damaging Het
Fubp3 C T 2: 31,501,755 (GRCm39) probably benign Het
Gbx2 C A 1: 89,856,559 (GRCm39) R277L probably damaging Het
Gm128 T C 3: 95,148,094 (GRCm39) R67G possibly damaging Het
Gpc2 T A 5: 138,273,792 (GRCm39) R469W probably damaging Het
Ifi30 G A 8: 71,217,407 (GRCm39) probably benign Het
Kbtbd4 T C 2: 90,736,252 (GRCm39) S88P probably damaging Het
Kif23 A T 9: 61,842,750 (GRCm39) Y216N probably damaging Het
Lgals4 A G 7: 28,540,973 (GRCm39) D299G probably damaging Het
Lmx1b A G 2: 33,459,071 (GRCm39) S161P probably benign Het
Lrcol1 T A 5: 110,502,444 (GRCm39) S107T probably benign Het
Lrrc28 A T 7: 67,195,223 (GRCm39) probably null Het
Ncoa4 T C 14: 31,894,884 (GRCm39) V42A probably benign Het
Nkd2 C T 13: 73,969,599 (GRCm39) S277N probably benign Het
Nlrp2 A T 7: 5,340,769 (GRCm39) L15Q probably damaging Het
Nynrin T G 14: 56,107,968 (GRCm39) L1025R probably damaging Het
Or12d12 C T 17: 37,610,629 (GRCm39) R228H probably benign Het
Or5w1 G T 2: 87,486,757 (GRCm39) C169* probably null Het
Piwil4 A T 9: 14,645,783 (GRCm39) F152I probably damaging Het
Plod3 T C 5: 137,025,002 (GRCm39) S705P probably benign Het
Ppp2r2c T A 5: 37,026,166 (GRCm39) M1K probably null Het
Rgs19 T C 2: 181,331,246 (GRCm39) E129G probably damaging Het
Rpap2 T A 5: 107,768,061 (GRCm39) S223T probably damaging Het
Slc30a4 T C 2: 122,527,137 (GRCm39) I370V probably benign Het
Slco1b2 A G 6: 141,609,398 (GRCm39) I269M possibly damaging Het
Slco1c1 A G 6: 141,485,793 (GRCm39) Y142C probably damaging Het
Slco3a1 T C 7: 73,934,198 (GRCm39) N658S probably benign Het
Sos1 A T 17: 80,741,329 (GRCm39) S485R probably benign Het
Srpk1 A G 17: 28,825,291 (GRCm39) L127P probably damaging Het
St3gal6 T A 16: 58,314,033 (GRCm39) probably benign Het
Stk4 T A 2: 163,916,134 (GRCm39) M1K probably null Het
Tbc1d12 A G 19: 38,871,176 (GRCm39) E313G probably benign Het
Tbk1 A G 10: 121,393,134 (GRCm39) I472T probably benign Het
Tiam1 G A 16: 89,586,168 (GRCm39) R849W probably damaging Het
Tle3 A G 9: 61,317,307 (GRCm39) T381A probably benign Het
Tmem82 T G 4: 141,341,954 (GRCm39) T337P probably benign Het
Tmprss15 T C 16: 78,868,149 (GRCm39) T220A probably benign Het
Ung A G 5: 114,275,369 (GRCm39) K242E possibly damaging Het
Vmn1r211 A T 13: 23,036,571 (GRCm39) M32K probably benign Het
Vps13d T G 4: 144,771,658 (GRCm39) D956A probably damaging Het
Wdr64 T A 1: 175,594,722 (GRCm39) probably null 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
IGL01534:Shox2 APN 3 66,885,696 (GRCm39) missense probably benign 0.01
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 2013-12-09