Incidental Mutation 'R5408:Uncx'
ID 426381
Institutional Source Beutler Lab
Gene Symbol Uncx
Ensembl Gene ENSMUSG00000029546
Gene Name UNC homeobox
Synonyms Chx4, Uncx4.1
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5408 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 139529620-139533934 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 139530245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 108 (K108*)
Ref Sequence ENSEMBL: ENSMUSP00000139081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172997] [ENSMUST00000174792]
AlphaFold O08934
Predicted Effect probably null
Transcript: ENSMUST00000031523
AA Change: K108*
SMART Domains Protein: ENSMUSP00000031523
Gene: ENSMUSG00000029546
AA Change: K108*

DomainStartEndE-ValueType
HOX 109 171 1.49e-25 SMART
coiled coil region 194 222 N/A INTRINSIC
low complexity region 230 267 N/A INTRINSIC
low complexity region 271 285 N/A INTRINSIC
low complexity region 347 356 N/A INTRINSIC
low complexity region 408 420 N/A INTRINSIC
low complexity region 424 439 N/A INTRINSIC
low complexity region 442 456 N/A INTRINSIC
low complexity region 462 474 N/A INTRINSIC
low complexity region 480 506 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000172997
AA Change: K108*
SMART Domains Protein: ENSMUSP00000134067
Gene: ENSMUSG00000029546
AA Change: K108*

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: K108*
SMART Domains Protein: ENSMUSP00000139081
Gene: ENSMUSG00000029546
AA Change: K108*

DomainStartEndE-ValueType
HOX 109 164 1.9e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198000
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly 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
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
R8959:Uncx UTSW 5 139,529,826 (GRCm39) nonsense probably null
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'- TCAAGCTTGCAGGTAGGCTG -3'
(R):5'- CTTAGAACAAAGGTGGCCCTG -3'

Sequencing Primer
(F):5'- CTTGCAGGTAGGCTGGAGGC -3'
(R):5'- GCCTAGTGCGGGATCTCG -3'
Posted On 2016-09-01