Incidental Mutation 'R8959:Uncx'
ID 682208
Institutional Source Beutler Lab
Gene Symbol Uncx
Ensembl Gene ENSMUSG00000029546
Gene Name UNC homeobox
Synonyms Chx4, Uncx4.1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8959 (G1)
Quality Score 119.008
Status Validated
Chromosome 5
Chromosomal Location 139529620-139533934 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 139529826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 26 (Y26*)
Ref Sequence ENSEMBL: ENSMUSP00000139081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172997] [ENSMUST00000174792]
AlphaFold O08934
Predicted Effect probably null
Transcript: ENSMUST00000172997
AA Change: Y26*
SMART Domains Protein: ENSMUSP00000134067
Gene: ENSMUSG00000029546
AA Change: Y26*

DomainStartEndE-ValueType
low complexity region 8 13 N/A INTRINSIC
low complexity region 30 47 N/A INTRINSIC
low complexity region 110 138 N/A INTRINSIC
low complexity region 162 178 N/A INTRINSIC
low complexity region 184 207 N/A INTRINSIC
low complexity region 215 233 N/A INTRINSIC
low complexity region 239 251 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000174792
AA Change: Y26*
SMART Domains Protein: ENSMUSP00000139081
Gene: ENSMUSG00000029546
AA Change: Y26*

DomainStartEndE-ValueType
HOX 109 164 1.9e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (48/48)
MGI Phenotype PHENOTYPE: Homozygous null mutants exhibit severe skeletal defects, including absence of pedicles, transverse processes and proximal ribs. Mutants die around birth from respiratory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 43,906,399 (GRCm39) T51K possibly damaging Het
Angel2 C T 1: 190,665,332 (GRCm39) R88C probably damaging Het
Ankrd13b G A 11: 77,367,452 (GRCm39) R181C probably damaging Het
Bmal2 T C 6: 146,722,142 (GRCm39) C238R probably benign Het
Brd3 C T 2: 27,354,013 (GRCm39) R33Q probably damaging Het
Ccdc106 T A 7: 5,060,500 (GRCm39) L20Q probably benign Het
Ccdc117 A T 11: 5,491,421 (GRCm39) V62D possibly damaging Het
Ccnt1 T C 15: 98,441,096 (GRCm39) probably benign Het
Cfap95 T C 19: 23,536,385 (GRCm39) E174G possibly damaging Het
Cmip G A 8: 118,138,054 (GRCm39) V178I probably benign Het
Cnnm3 A G 1: 36,558,096 (GRCm39) E436G probably damaging Het
Dcaf11 A G 14: 55,806,761 (GRCm39) N488S probably benign Het
Dlg2 A T 7: 90,501,927 (GRCm39) K80* probably null Het
Dnase1l2 T A 17: 24,661,642 (GRCm39) D39V probably damaging Het
Dysf A G 6: 84,078,945 (GRCm39) D708G probably benign Het
Enpep A T 3: 129,113,090 (GRCm39) L278Q probably damaging Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Flt3 T G 5: 147,303,774 (GRCm39) Q388P possibly damaging Het
Hltf A G 3: 20,136,936 (GRCm39) Y329C probably damaging Het
Hmcn2 C T 2: 31,282,159 (GRCm39) P1924S probably damaging Het
Iba57 A G 11: 59,052,461 (GRCm39) V122A probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Irak2 T A 6: 113,624,702 (GRCm39) M66K probably damaging Het
Mkrn2os G C 6: 115,562,317 (GRCm39) S215R probably benign Het
Mpped1 G A 15: 83,676,342 (GRCm39) R36Q probably damaging Het
Myh1 C A 11: 67,102,328 (GRCm39) A873E probably benign Het
Nedd9 G T 13: 41,469,758 (GRCm39) A465D probably damaging Het
Nr2f1 G T 13: 78,337,873 (GRCm39) Y257* probably null Het
Omd A G 13: 49,745,790 (GRCm39) E400G possibly damaging Het
Or5j1 T A 2: 86,879,551 (GRCm39) T10S possibly damaging Het
Or6c202 A G 10: 128,996,484 (GRCm39) I123T probably damaging Het
Patj T C 4: 98,480,212 (GRCm39) S1306P probably damaging Het
Pdzph1 T C 17: 59,281,599 (GRCm39) K228E probably damaging Het
Prl2c5 A G 13: 13,365,392 (GRCm39) probably benign Het
Rad18 T C 6: 112,605,444 (GRCm39) E410G probably damaging Het
Rp1 T A 1: 4,419,650 (GRCm39) probably benign Het
Runx3 C T 4: 134,902,968 (GRCm39) S366L probably damaging Het
Ssh3 T A 19: 4,318,590 (GRCm39) R30S probably damaging Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Taf6l A G 19: 8,750,690 (GRCm39) F128S possibly damaging Het
Tmc6 A C 11: 117,661,293 (GRCm39) probably null Het
Trpc3 T G 3: 36,709,258 (GRCm39) Q406P probably benign Het
Urb1 T C 16: 90,571,005 (GRCm39) D1268G probably benign Het
Wif1 T C 10: 120,931,957 (GRCm39) C294R probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfp78 A G 7: 6,382,380 (GRCm39) R477G probably damaging Het
Other mutations in Uncx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02616:Uncx APN 5 139,532,523 (GRCm39) missense possibly damaging 0.95
PIT4378001:Uncx UTSW 5 139,530,377 (GRCm39) nonsense probably null
R0658:Uncx UTSW 5 139,529,942 (GRCm39) missense probably damaging 0.99
R0959:Uncx UTSW 5 139,532,442 (GRCm39) missense probably damaging 1.00
R1786:Uncx UTSW 5 139,533,302 (GRCm39) missense probably benign 0.00
R3870:Uncx UTSW 5 139,533,120 (GRCm39) missense probably damaging 0.98
R4022:Uncx UTSW 5 139,532,444 (GRCm39) missense probably damaging 0.97
R4512:Uncx UTSW 5 139,532,522 (GRCm39) missense possibly damaging 0.59
R4514:Uncx UTSW 5 139,532,522 (GRCm39) missense possibly damaging 0.59
R4604:Uncx UTSW 5 139,529,837 (GRCm39) missense possibly damaging 0.95
R4864:Uncx UTSW 5 139,529,875 (GRCm39) missense probably damaging 0.98
R5048:Uncx UTSW 5 139,532,874 (GRCm39) missense probably benign 0.00
R5408:Uncx UTSW 5 139,530,245 (GRCm39) nonsense probably null
R5954:Uncx UTSW 5 139,533,384 (GRCm39) missense probably benign
R5997:Uncx UTSW 5 139,533,344 (GRCm39) missense probably damaging 1.00
R7477:Uncx UTSW 5 139,533,017 (GRCm39) missense probably benign
R7563:Uncx UTSW 5 139,530,261 (GRCm39) missense probably damaging 1.00
R7598:Uncx UTSW 5 139,529,809 (GRCm39) missense probably benign 0.09
R8142:Uncx UTSW 5 139,532,655 (GRCm39) missense possibly damaging 0.62
R8347:Uncx UTSW 5 139,532,571 (GRCm39) missense probably damaging 0.99
R9006:Uncx UTSW 5 139,532,936 (GRCm39) missense possibly damaging 0.70
R9068:Uncx UTSW 5 139,532,573 (GRCm39) missense possibly damaging 0.91
R9084:Uncx UTSW 5 139,529,753 (GRCm39) missense possibly damaging 0.86
R9451:Uncx UTSW 5 139,532,475 (GRCm39) missense probably damaging 0.97
R9462:Uncx UTSW 5 139,529,771 (GRCm39) missense probably damaging 1.00
Z1176:Uncx UTSW 5 139,529,909 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTAATTATCGAGAGCTTGATG -3'
(R):5'- AGCTTGAAGGGCTGGCTTTC -3'

Sequencing Primer
(F):5'- CTTGATGTTGATAAAGTAAAGCGGC -3'
(R):5'- TGGGGTTGACCACCGAG -3'
Posted On 2021-08-31