Incidental Mutation 'R0658:Uncx'
ID218801
Institutional Source Beutler Lab
Gene Symbol Uncx
Ensembl Gene ENSMUSG00000029546
Gene NameUNC homeobox
SynonymsChx4, Uncx4.1
MMRRC Submission 038843-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0658 (G1)
Quality Score73
Status Validated
Chromosome5
Chromosomal Location139543494-139548179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 139544187 bp
ZygosityHeterozygous
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]
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: 100,817,961 probably null Het
Acsl3 A G 1: 78,701,287 D520G probably damaging Het
Adgrl3 T C 5: 81,648,713 V623A probably benign Het
Ak9 G T 10: 41,347,222 V454L probably damaging Het
Alpk2 C A 18: 65,349,487 K483N probably damaging Het
Arhgef12 T C 9: 42,981,985 Y974C probably damaging Het
Armc8 C T 9: 99,536,158 probably benign Het
Atp2a2 C T 5: 122,457,633 probably benign Het
Atrn T C 2: 130,970,227 probably null Het
Caps2 T A 10: 112,204,038 probably benign Het
Cep76 A G 18: 67,623,304 S486P probably damaging Het
Cep97 C T 16: 55,914,902 R583H probably benign Het
Cog7 A G 7: 121,956,140 probably benign Het
Commd5 T A 15: 76,900,568 V55E probably damaging Het
Csmd3 A T 15: 48,011,147 D684E possibly damaging Het
Ctxn2 T C 2: 125,147,456 M1T probably null Het
Exph5 A G 9: 53,377,475 D1952G unknown Het
Fmo2 A T 1: 162,876,774 L521Q possibly damaging Het
Fryl T A 5: 73,065,359 T1960S probably damaging Het
G6pd2 T C 5: 61,809,674 L264P probably damaging Het
Gm1966 C A 7: 106,602,886 V384L possibly damaging Het
Gne A T 4: 44,039,033 V647E possibly damaging Het
Grb14 G A 2: 64,914,727 Q96* probably null Het
Gtf3c1 A G 7: 125,698,962 F146L probably damaging Het
Irak2 A G 6: 113,638,564 Y6C probably damaging Het
Kel T A 6: 41,703,031 N75I probably damaging Het
Lgr4 T A 2: 110,011,787 F706I possibly damaging Het
Lox A T 18: 52,528,883 S149R probably benign Het
Lrrc66 T G 5: 73,610,944 D218A probably benign Het
Luc7l C T 17: 26,266,322 R99W probably damaging Het
Megf10 T C 18: 57,252,896 V327A probably benign Het
Mthfd1l G T 10: 4,047,976 probably null Het
Myh11 C A 16: 14,224,019 Q720H probably damaging Het
Myh8 G T 11: 67,284,532 probably null Het
Olfr1463 A T 19: 13,235,060 D270V possibly damaging Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pgf C T 12: 85,169,385 R153K probably benign Het
Pramef8 A T 4: 143,417,600 Q172L probably damaging Het
Prdm2 A G 4: 143,135,265 V485A probably damaging Het
Rag1 T C 2: 101,642,683 T705A probably damaging Het
Rflna A C 5: 125,003,710 D48A possibly damaging Het
Rnf148 A T 6: 23,654,457 I180N probably damaging Het
Rtn4 T A 11: 29,706,475 S94T probably damaging Het
Scn11a G A 9: 119,811,160 T223I probably benign Het
Scube2 T A 7: 109,837,120 probably benign Het
Sept14 T C 5: 129,697,908 I68V probably benign Het
Sil1 A T 18: 35,266,857 L365Q possibly damaging Het
Sirt1 A G 10: 63,321,736 probably benign Het
Slc9a1 T C 4: 133,420,499 probably benign Het
Smpdl3a A G 10: 57,811,240 T355A probably damaging Het
Syne2 T C 12: 76,094,336 I6074T probably damaging Het
Thbs2 T A 17: 14,680,325 H540L probably benign Het
Tsc22d4 T C 5: 137,768,021 S450P probably benign Het
Tshr C A 12: 91,538,226 S54* probably null Het
Ubxn4 G A 1: 128,262,904 E256K probably benign Het
Vmn1r87 A T 7: 13,131,829 M177K probably damaging Het
Vmn2r56 A T 7: 12,710,308 C466S probably benign Het
Wnk1 G A 6: 119,948,505 P1831S probably damaging Het
Zfp820 T C 17: 21,818,920 S476G probably benign Het
Other mutations in Uncx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02616:Uncx APN 5 139546768 missense possibly damaging 0.95
PIT4378001:Uncx UTSW 5 139544622 nonsense probably null
R0959:Uncx UTSW 5 139546687 missense probably damaging 1.00
R1786:Uncx UTSW 5 139547547 missense probably benign 0.00
R3870:Uncx UTSW 5 139547365 missense probably damaging 0.98
R4022:Uncx UTSW 5 139546689 missense probably damaging 0.97
R4512:Uncx UTSW 5 139546767 missense possibly damaging 0.59
R4514:Uncx UTSW 5 139546767 missense possibly damaging 0.59
R4604:Uncx UTSW 5 139544082 missense possibly damaging 0.95
R4864:Uncx UTSW 5 139544120 missense probably damaging 0.98
R5048:Uncx UTSW 5 139547119 missense probably benign 0.00
R5408:Uncx UTSW 5 139544490 nonsense probably null
R5954:Uncx UTSW 5 139547629 missense probably benign
R5997:Uncx UTSW 5 139547589 missense probably damaging 1.00
R7477:Uncx UTSW 5 139547262 missense probably benign
R7563:Uncx UTSW 5 139544506 missense probably damaging 1.00
R7598:Uncx UTSW 5 139544054 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- AACGTTTCCTTGCACCCAGCAC -3'
(R):5'- AGTGGCTCTCATTGAACGCCTTC -3'

Sequencing Primer
(F):5'- CGCGGCTAATTATCGAGAGC -3'
(R):5'- ACCTGGCAGATGCTTGTCC -3'
Posted On2014-08-21