Incidental Mutation 'R3870:Uncx'
ID 276499
Institutional Source Beutler Lab
Gene Symbol Uncx
Ensembl Gene ENSMUSG00000029546
Gene Name UNC homeobox
Synonyms Chx4, Uncx4.1
MMRRC Submission 040789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3870 (G1)
Quality Score 158
Status Not validated
Chromosome 5
Chromosomal Location 139529620-139533934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139533120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 395 (L395P)
Ref Sequence ENSEMBL: ENSMUSP00000134067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172997] [ENSMUST00000174792]
AlphaFold O08934
Predicted Effect probably damaging
Transcript: ENSMUST00000031523
AA Change: L395P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031523
Gene: ENSMUSG00000029546
AA Change: L395P

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 damaging
Transcript: ENSMUST00000172997
AA Change: L395P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134067
Gene: ENSMUSG00000029546
AA Change: L395P

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 benign
Transcript: ENSMUST00000174792
SMART Domains Protein: ENSMUSP00000139081
Gene: ENSMUSG00000029546

DomainStartEndE-ValueType
HOX 109 164 1.9e-10 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 90% (61/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,880,828 (GRCm39) probably null Het
Adam22 C A 5: 8,182,418 (GRCm39) C514F probably damaging Het
Akap8 G A 17: 32,536,813 (GRCm39) probably benign Het
Armcx2 A T X: 133,707,048 (GRCm39) V195E probably benign Het
Atg7 T C 6: 114,674,008 (GRCm39) S301P possibly damaging Het
Cc2d2a C A 5: 43,876,033 (GRCm39) Y1003* probably null Het
Ccdc93 A G 1: 121,390,843 (GRCm39) S272G probably benign Het
Ces1d C G 8: 93,901,714 (GRCm39) L418F probably benign Het
Cntnap5a A G 1: 115,987,979 (GRCm39) E170G probably damaging Het
Cplane1 A T 15: 8,247,948 (GRCm39) K1499M probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ehd4 T A 2: 119,967,434 (GRCm39) D120V probably damaging Het
Eif4g3 T A 4: 137,824,211 (GRCm39) V71E probably damaging Het
Exoc5 A G 14: 49,256,853 (GRCm39) probably benign Het
Glud1 T A 14: 34,047,537 (GRCm39) probably benign Het
Gm10985 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 3: 53,752,626 (GRCm39) probably null Het
Gm11555 G T 11: 99,540,816 (GRCm39) C64* probably null Het
Gm5468 A G 15: 25,414,561 (GRCm39) probably benign Het
Gpatch2 T A 1: 187,054,491 (GRCm39) L74Q probably damaging Het
Hnrnpa0 G A 13: 58,275,713 (GRCm39) R139C probably damaging Het
Hrh1 A G 6: 114,457,880 (GRCm39) Y387C probably damaging Het
Ldb3 A T 14: 34,289,440 (GRCm39) D216E probably damaging Het
Lingo1 A T 9: 56,527,009 (GRCm39) S533T probably benign Het
Lmtk2 T G 5: 144,103,245 (GRCm39) probably benign Het
Map1s A G 8: 71,369,745 (GRCm39) E939G possibly damaging Het
Mast1 G A 8: 85,645,360 (GRCm39) T695I probably damaging Het
Mettl21e G A 1: 44,245,524 (GRCm39) R241W probably benign Het
Mfsd4a G A 1: 131,974,091 (GRCm39) T261I probably damaging Het
Mmel1 T C 4: 154,968,095 (GRCm39) S144P probably benign Het
Myo16 A T 8: 10,492,239 (GRCm39) H727L probably benign Het
Ncoa6 T C 2: 155,257,477 (GRCm39) probably null Het
Nipa2 T C 7: 55,582,690 (GRCm39) R352G probably damaging Het
Oaf C T 9: 43,134,055 (GRCm39) R222Q probably benign Het
Or2ag2b T A 7: 106,418,047 (GRCm39) Y252* probably null Het
Pard3 T C 8: 128,136,167 (GRCm39) S847P probably damaging Het
Pgbd1 C T 13: 21,618,540 (GRCm39) R39H possibly damaging Het
Plcb1 A C 2: 135,167,591 (GRCm39) I462L probably damaging Het
Prex2 T C 1: 11,230,416 (GRCm39) V814A possibly damaging Het
Rasal3 G A 17: 32,612,522 (GRCm39) R780W possibly damaging Het
Rubcnl C T 14: 75,278,356 (GRCm39) P380L probably benign Het
Ryk A G 9: 102,768,427 (GRCm39) E359G probably damaging Het
Sall2 C A 14: 52,551,451 (GRCm39) L579F probably damaging Het
Satb2 A G 1: 56,930,379 (GRCm39) S215P probably damaging Het
Scg3 T C 9: 75,582,781 (GRCm39) probably benign Het
Slc35f5 A G 1: 125,490,098 (GRCm39) T65A probably benign Het
Snx33 T C 9: 56,834,024 (GRCm39) N15S probably benign Het
Stat2 T A 10: 128,113,762 (GRCm39) S180R probably benign Het
Stxbp2 A G 8: 3,684,079 (GRCm39) T129A probably damaging Het
Tas1r3 A T 4: 155,945,810 (GRCm39) C529S probably damaging Het
Tlr12 T A 4: 128,510,361 (GRCm39) M630L probably benign Het
Tnfrsf10b T G 14: 70,010,905 (GRCm39) D103E probably benign Het
Togaram1 A C 12: 65,049,419 (GRCm39) E1285D probably benign Het
Tppp A G 13: 74,178,891 (GRCm39) T111A probably benign Het
Trim12c T C 7: 103,997,544 (GRCm39) Q4R probably benign Het
Ttbk2 T G 2: 120,570,500 (GRCm39) S1149R probably damaging Het
Usp14 A G 18: 10,002,370 (GRCm39) S314P possibly damaging Het
Usp32 A T 11: 84,897,881 (GRCm39) Y1153* probably null Het
Vmn2r6 T C 3: 64,464,042 (GRCm39) E264G probably damaging Het
Vmn2r77 T C 7: 86,461,050 (GRCm39) F792S probably damaging Het
Vps13c A G 9: 67,792,008 (GRCm39) I425V probably benign Het
Vstm4 C T 14: 32,585,712 (GRCm39) A93V probably benign Het
Xrcc6 T A 15: 81,909,885 (GRCm39) S97T probably benign Het
Zscan20 A G 4: 128,480,218 (GRCm39) C758R 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
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
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'- TTCTACCCGAGCCAAAGAAG -3'
(R):5'- GCTGTTAGGTCCCGGAAAGAAG -3'

Sequencing Primer
(F):5'- TAAGGCTAGCCCGTTCAGC -3'
(R):5'- TCCCGGAAAGAAGCGGGAG -3'
Posted On 2015-04-06