Incidental Mutation 'R0658:Uncx'
ID 218801
Institutional Source Beutler Lab
Gene Symbol Uncx
Ensembl Gene ENSMUSG00000029546
Gene Name UNC homeobox
Synonyms Chx4, Uncx4.1
MMRRC Submission 038843-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0658 (G1)
Quality Score 73
Status Validated
Chromosome 5
Chromosomal Location 139529620-139533934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 139529942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 65 (C65F)
Ref Sequence ENSEMBL: ENSMUSP00000139081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172997] [ENSMUST00000174792]
AlphaFold O08934
Predicted Effect probably damaging
Transcript: ENSMUST00000031523
AA Change: C65F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031523
Gene: ENSMUSG00000029546
AA Change: C65F

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: C65F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134067
Gene: ENSMUSG00000029546
AA Change: C65F

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 damaging
Transcript: ENSMUST00000174792
AA Change: C65F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139081
Gene: ENSMUSG00000029546
AA Change: C65F

DomainStartEndE-ValueType
HOX 109 164 1.9e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198000
Meta Mutation Damage Score 0.2268 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 99% (78/79)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 C T 5: 100,965,827 (GRCm39) probably null Het
Acsl3 A G 1: 78,679,004 (GRCm39) D520G probably damaging Het
Adgrl3 T C 5: 81,796,560 (GRCm39) V623A probably benign Het
Ak9 G T 10: 41,223,218 (GRCm39) V454L probably damaging Het
Alpk2 C A 18: 65,482,558 (GRCm39) K483N probably damaging Het
Arhgef12 T C 9: 42,893,281 (GRCm39) Y974C probably damaging Het
Armc8 C T 9: 99,418,211 (GRCm39) probably benign Het
Atp2a2 C T 5: 122,595,696 (GRCm39) probably benign Het
Atrn T C 2: 130,812,147 (GRCm39) probably null Het
Caps2 T A 10: 112,039,943 (GRCm39) probably benign Het
Cep76 A G 18: 67,756,374 (GRCm39) S486P probably damaging Het
Cep97 C T 16: 55,735,265 (GRCm39) R583H probably benign Het
Cog7 A G 7: 121,555,363 (GRCm39) probably benign Het
Commd5 T A 15: 76,784,768 (GRCm39) V55E probably damaging Het
Csmd3 A T 15: 47,874,543 (GRCm39) D684E possibly damaging Het
Ctxn2 T C 2: 124,989,376 (GRCm39) M1T probably null Het
Exph5 A G 9: 53,288,775 (GRCm39) D1952G unknown Het
Fmo2 A T 1: 162,704,343 (GRCm39) L521Q possibly damaging Het
Fryl T A 5: 73,222,702 (GRCm39) T1960S probably damaging Het
G6pd2 T C 5: 61,967,017 (GRCm39) L264P probably damaging Het
Gne A T 4: 44,039,033 (GRCm39) V647E possibly damaging Het
Grb14 G A 2: 64,745,071 (GRCm39) Q96* probably null Het
Gtf3c1 A G 7: 125,298,134 (GRCm39) F146L probably damaging Het
Gvin3 C A 7: 106,202,093 (GRCm39) V384L possibly damaging Het
Irak2 A G 6: 113,615,525 (GRCm39) Y6C probably damaging Het
Kel T A 6: 41,679,965 (GRCm39) N75I probably damaging Het
Lgr4 T A 2: 109,842,132 (GRCm39) F706I possibly damaging Het
Lox A T 18: 52,661,955 (GRCm39) S149R probably benign Het
Lrrc66 T G 5: 73,768,287 (GRCm39) D218A probably benign Het
Luc7l C T 17: 26,485,296 (GRCm39) R99W probably damaging Het
Megf10 T C 18: 57,385,968 (GRCm39) V327A probably benign Het
Mthfd1l G T 10: 3,997,976 (GRCm39) probably null Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Myh8 G T 11: 67,175,358 (GRCm39) probably null Het
Or5b109 A T 19: 13,212,424 (GRCm39) D270V possibly damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pgf C T 12: 85,216,159 (GRCm39) R153K probably benign Het
Pramel12 A T 4: 143,144,170 (GRCm39) Q172L probably damaging Het
Prdm2 A G 4: 142,861,835 (GRCm39) V485A probably damaging Het
Rag1 T C 2: 101,473,028 (GRCm39) T705A probably damaging Het
Rflna A C 5: 125,080,774 (GRCm39) D48A possibly damaging Het
Rnf148 A T 6: 23,654,456 (GRCm39) I180N probably damaging Het
Rtn4 T A 11: 29,656,475 (GRCm39) S94T probably damaging Het
Scn11a G A 9: 119,640,226 (GRCm39) T223I probably benign Het
Scube2 T A 7: 109,436,327 (GRCm39) probably benign Het
Septin14 T C 5: 129,774,972 (GRCm39) I68V probably benign Het
Sil1 A T 18: 35,399,910 (GRCm39) L365Q possibly damaging Het
Sirt1 A G 10: 63,157,515 (GRCm39) probably benign Het
Slc9a1 T C 4: 133,147,810 (GRCm39) probably benign Het
Smpdl3a A G 10: 57,687,336 (GRCm39) T355A probably damaging Het
Syne2 T C 12: 76,141,110 (GRCm39) I6074T probably damaging Het
Thbs2 T A 17: 14,900,587 (GRCm39) H540L probably benign Het
Tsc22d4 T C 5: 137,766,283 (GRCm39) S450P probably benign Het
Tshr C A 12: 91,505,000 (GRCm39) S54* probably null Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r87 A T 7: 12,865,756 (GRCm39) M177K probably damaging Het
Vmn2r56 A T 7: 12,444,235 (GRCm39) C466S probably benign Het
Wnk1 G A 6: 119,925,466 (GRCm39) P1831S probably damaging Het
Zfp820 T C 17: 22,037,901 (GRCm39) S476G probably benign 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
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
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'- AACGTTTCCTTGCACCCAGCAC -3'
(R):5'- AGTGGCTCTCATTGAACGCCTTC -3'

Sequencing Primer
(F):5'- CGCGGCTAATTATCGAGAGC -3'
(R):5'- ACCTGGCAGATGCTTGTCC -3'
Posted On 2014-08-21