Incidental Mutation 'IGL02957:Gbx2'
ID 365191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbx2
Ensembl Gene ENSMUSG00000034486
Gene Name gastrulation brain homeobox 2
Synonyms MMoxA, Stra7, Gbx-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02957
Quality Score
Status
Chromosome 1
Chromosomal Location 89855684-89858898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 89858375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 35 (S35R)
Ref Sequence ENSEMBL: ENSMUSP00000048508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036954]
AlphaFold P48031
Predicted Effect probably benign
Transcript: ENSMUST00000036954
AA Change: S35R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000048508
Gene: ENSMUSG00000034486
AA Change: S35R

DomainStartEndE-ValueType
low complexity region 56 82 N/A INTRINSIC
low complexity region 234 245 N/A INTRINSIC
HOX 247 309 7.58e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189763
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with vascular, neurological, skeletal, and craniofacial defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,509,945 (GRCm39) D262G probably damaging Het
Abtb3 T A 10: 85,469,701 (GRCm39) M405K probably damaging Het
Abtb3 C T 10: 85,467,150 (GRCm39) probably benign Het
Ahcyl1 G T 3: 107,574,958 (GRCm39) Q462K probably damaging Het
C8b A G 4: 104,623,652 (GRCm39) T20A probably benign Het
Casd1 T A 6: 4,634,068 (GRCm39) Y594N possibly damaging Het
Crtc2 C T 3: 90,169,840 (GRCm39) P412L probably damaging Het
Cyp3a44 T A 5: 145,716,472 (GRCm39) R373* probably null Het
Dnah10 A G 5: 124,840,197 (GRCm39) D1277G probably benign Het
Dnah2 A T 11: 69,339,333 (GRCm39) V3058E possibly damaging Het
Eif3l T C 15: 78,974,028 (GRCm39) L481P probably benign Het
Fbxw7 A T 3: 84,883,544 (GRCm39) T573S probably benign Het
Fcgbp C A 7: 27,791,272 (GRCm39) Y844* probably null Het
Fcrl2 C A 3: 87,169,501 (GRCm39) V13F possibly damaging Het
H2-M9 A G 17: 36,953,049 (GRCm39) L86S probably benign Het
Hebp1 C T 6: 135,114,990 (GRCm39) G157D probably benign Het
Igf2bp3 C A 6: 49,064,338 (GRCm39) V560L probably benign Het
Igsf10 A G 3: 59,238,285 (GRCm39) I632T probably damaging Het
Kcnab2 A T 4: 152,520,326 (GRCm39) S5T possibly damaging Het
Kcnh5 T C 12: 75,054,439 (GRCm39) S502G probably benign Het
Lpcat2 T A 8: 93,602,212 (GRCm39) Y224* probably null Het
Mcrip2 A G 17: 26,087,499 (GRCm39) V24A probably damaging Het
Mttp T C 3: 137,814,842 (GRCm39) K493E possibly damaging Het
Myl7 A G 11: 5,847,137 (GRCm39) S139P possibly damaging Het
Npepps C T 11: 97,133,478 (GRCm39) R268H probably damaging Het
Oas1c C T 5: 120,943,478 (GRCm39) W18* probably null Het
Or10ak7 G T 4: 118,791,316 (GRCm39) T241N probably damaging Het
P4ha3 T C 7: 99,968,112 (GRCm39) probably benign Het
Pate14 G T 9: 36,549,146 (GRCm39) T38K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkhd1l1 T A 15: 44,376,304 (GRCm39) W989R probably damaging Het
Podxl A G 6: 31,505,384 (GRCm39) probably benign Het
Pot1b T C 17: 56,007,009 (GRCm39) Y36C probably damaging Het
Ppme1 A T 7: 99,987,647 (GRCm39) I103K possibly damaging Het
Ppp1r12a T C 10: 108,034,779 (GRCm39) I108T probably damaging Het
Pramel1 A G 4: 143,124,168 (GRCm39) H281R probably benign Het
Prep T C 10: 45,002,126 (GRCm39) V427A probably benign Het
Prkce A G 17: 86,803,454 (GRCm39) D451G possibly damaging Het
Prrc2c A G 1: 162,534,104 (GRCm39) probably benign Het
Ramacl A T 13: 67,056,277 (GRCm39) probably benign Het
Rrm2 A G 12: 24,758,440 (GRCm39) N32S probably damaging Het
Sema6a A G 18: 47,382,291 (GRCm39) L752P probably damaging Het
Sik3 T A 9: 46,107,143 (GRCm39) I429N possibly damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Stk32a A T 18: 43,445,057 (GRCm39) M284L probably benign Het
Syde2 T C 3: 145,694,934 (GRCm39) probably benign Het
Tcta G A 9: 108,182,531 (GRCm39) S91F possibly damaging Het
Traf3ip2 A T 10: 39,530,406 (GRCm39) T517S probably damaging Het
Trpv3 A G 11: 73,176,698 (GRCm39) Y359C probably damaging Het
Vmn1r66 A G 7: 10,008,737 (GRCm39) S99P probably damaging Het
Vmn2r8 G A 5: 108,950,091 (GRCm39) T252M probably benign Het
Wdr27 A T 17: 15,130,372 (GRCm39) probably benign Het
Yipf1 A G 4: 107,193,347 (GRCm39) T78A probably damaging Het
Zfp735 A T 11: 73,601,755 (GRCm39) Y233F probably benign Het
Other mutations in Gbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Gbx2 APN 1 89,856,559 (GRCm39) missense probably damaging 1.00
IGL01804:Gbx2 APN 1 89,856,703 (GRCm39) missense probably benign 0.00
IGL02345:Gbx2 APN 1 89,856,698 (GRCm39) missense probably benign 0.00
IGL02370:Gbx2 APN 1 89,856,871 (GRCm39) splice site probably benign
IGL02959:Gbx2 APN 1 89,856,517 (GRCm39) missense probably damaging 1.00
R2280:Gbx2 UTSW 1 89,858,359 (GRCm39) missense probably damaging 1.00
R2405:Gbx2 UTSW 1 89,858,630 (GRCm39) start gained probably benign
R2860:Gbx2 UTSW 1 89,856,853 (GRCm39) missense probably damaging 0.97
R2861:Gbx2 UTSW 1 89,856,853 (GRCm39) missense probably damaging 0.97
R5384:Gbx2 UTSW 1 89,856,635 (GRCm39) missense probably damaging 1.00
R5587:Gbx2 UTSW 1 89,860,844 (GRCm39) unclassified probably benign
R5747:Gbx2 UTSW 1 89,856,437 (GRCm39) missense probably damaging 0.98
R5956:Gbx2 UTSW 1 89,860,908 (GRCm39) unclassified probably benign
R6053:Gbx2 UTSW 1 89,858,159 (GRCm39) missense probably benign 0.00
R6633:Gbx2 UTSW 1 89,856,442 (GRCm39) frame shift probably null
R7479:Gbx2 UTSW 1 89,858,373 (GRCm39) missense probably benign 0.02
R7505:Gbx2 UTSW 1 89,856,455 (GRCm39) missense probably benign 0.26
R7768:Gbx2 UTSW 1 89,856,706 (GRCm39) missense probably benign 0.09
R8184:Gbx2 UTSW 1 89,856,550 (GRCm39) missense probably damaging 1.00
R8998:Gbx2 UTSW 1 89,856,745 (GRCm39) missense possibly damaging 0.79
R9599:Gbx2 UTSW 1 89,856,635 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18