Incidental Mutation 'R0625:Cxxc5'
ID 57447
Institutional Source Beutler Lab
Gene Symbol Cxxc5
Ensembl Gene ENSMUSG00000046668
Gene Name CXXC finger 5
MMRRC Submission 038814-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.482) question?
Stock # R0625 (G1)
Quality Score 185
Status Not validated
Chromosome 18
Chromosomal Location 35829818-35861687 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 35858589 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 14 (S14R)
Ref Sequence ENSEMBL: ENSMUSP00000054307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060722]
AlphaFold Q91WA4
Predicted Effect unknown
Transcript: ENSMUST00000060722
AA Change: S14R
SMART Domains Protein: ENSMUSP00000054307
Gene: ENSMUSG00000046668
AA Change: S14R

low complexity region 2 27 N/A INTRINSIC
low complexity region 36 55 N/A INTRINSIC
low complexity region 82 95 N/A INTRINSIC
low complexity region 98 111 N/A INTRINSIC
Pfam:zf-CXXC 250 291 3.4e-10 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a retinoid-inducible nuclear protein containing a CXXC-type zinc finger motif. The encoded protein is involved in myelopoiesis, is required for DNA damage-induced p53 activation, regulates the differentiation of C2C12 myoblasts into myocytes, and negatively regulates cutaneous wound healing. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit an increase in bone mass, bone mineral density, osteocyte dendrite formation, and bone formation rate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,408,065 (GRCm38) S2P probably benign Het
Abca16 A C 7: 120,435,893 (GRCm38) T301P probably damaging Het
Acer2 A G 4: 86,887,162 (GRCm38) D121G possibly damaging Het
Adgrd1 T C 5: 129,171,931 (GRCm38) probably null Het
Arhgap11a T C 2: 113,841,711 (GRCm38) I249V probably benign Het
Arhgap22 A G 14: 33,366,714 (GRCm38) E219G probably benign Het
C2cd4b T A 9: 67,759,751 (GRCm38) S10T probably benign Het
Cnot6 A T 11: 49,683,171 (GRCm38) I224N probably damaging Het
Ctrc T C 4: 141,841,518 (GRCm38) T125A probably damaging Het
Cyp4f37 T G 17: 32,634,678 (GRCm38) F445L probably damaging Het
Dcbld1 T G 10: 52,312,850 (GRCm38) I186S probably benign Het
Dmxl2 T C 9: 54,382,702 (GRCm38) T2510A probably benign Het
Dnah3 A G 7: 120,071,887 (GRCm38) I591T possibly damaging Het
Dock5 A T 14: 67,841,163 (GRCm38) I204N probably benign Het
Dysf G A 6: 84,111,987 (GRCm38) probably null Het
Erich5 A G 15: 34,471,369 (GRCm38) E248G probably damaging Het
Fam160a1 A G 3: 85,730,500 (GRCm38) V164A possibly damaging Het
Foxm1 A G 6: 128,373,871 (GRCm38) S712G probably damaging Het
Frmpd1 A G 4: 45,284,055 (GRCm38) T959A probably benign Het
Gfra4 C T 2: 131,040,256 (GRCm38) V277I probably null Het
Hacd4 T C 4: 88,435,010 (GRCm38) I82V probably benign Het
Itih2 C T 2: 10,123,414 (GRCm38) V159I possibly damaging Het
Itpr2 T A 6: 146,166,651 (GRCm38) M2410L probably benign Het
March11 A G 15: 26,311,043 (GRCm38) I202V probably damaging Het
March3 A G 18: 56,811,830 (GRCm38) probably null Het
Med12l G A 3: 59,247,437 (GRCm38) E1135K probably damaging Het
Mib2 C T 4: 155,659,460 (GRCm38) G42S probably damaging Het
Mlx T C 11: 101,087,782 (GRCm38) L78P possibly damaging Het
Muc5b T C 7: 141,846,427 (GRCm38) C473R unknown Het
N4bp2l1 T A 5: 150,576,745 (GRCm38) R66* probably null Het
Nes A G 3: 87,977,172 (GRCm38) T913A possibly damaging Het
Oas1a T C 5: 120,899,259 (GRCm38) E235G probably damaging Het
Olfr1104 T A 2: 87,021,620 (GRCm38) H308L probably benign Het
Olfr477 T C 7: 107,991,189 (GRCm38) S275P probably damaging Het
Olfr905 T C 9: 38,473,208 (GRCm38) S154P possibly damaging Het
Parn C T 16: 13,640,294 (GRCm38) V286I probably benign Het
Paxip1 G A 5: 27,765,942 (GRCm38) Q470* probably null Het
Phc2 C G 4: 128,723,710 (GRCm38) H510D possibly damaging Het
Pla2g4f T A 2: 120,305,041 (GRCm38) D384V probably damaging Het
Plpbp A T 8: 27,045,131 (GRCm38) N68I probably damaging Het
Podxl2 G A 6: 88,849,955 (GRCm38) A123V possibly damaging Het
Pole A T 5: 110,325,550 (GRCm38) T1737S possibly damaging Het
Ppp3cc T C 14: 70,225,027 (GRCm38) E396G probably damaging Het
Pramel7 T A 2: 87,491,008 (GRCm38) I228F probably benign Het
Prl7d1 A T 13: 27,710,140 (GRCm38) C149S probably benign Het
Qtrt1 G T 9: 21,418,288 (GRCm38) M217I probably benign Het
Sec24a T A 11: 51,729,454 (GRCm38) D456V probably damaging Het
Shox2 T G 3: 66,981,544 (GRCm38) probably null Het
Skint2 T A 4: 112,624,086 (GRCm38) S49T probably damaging Het
Smarca5 A G 8: 80,720,686 (GRCm38) probably null Het
Sorcs2 T A 5: 36,024,572 (GRCm38) D1068V possibly damaging Het
Tmem114 T C 16: 8,412,102 (GRCm38) probably null Het
Ttc7b T A 12: 100,355,046 (GRCm38) M24L probably benign Het
Ttll3 A G 6: 113,408,903 (GRCm38) probably null Het
Usp7 C T 16: 8,704,982 (GRCm38) D102N probably benign Het
Other mutations in Cxxc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Cxxc5 APN 18 35,860,692 (GRCm38) makesense probably null
R1538:Cxxc5 UTSW 18 35,858,569 (GRCm38) missense unknown
R1891:Cxxc5 UTSW 18 35,859,265 (GRCm38) missense possibly damaging 0.77
R5812:Cxxc5 UTSW 18 35,859,056 (GRCm38) missense probably damaging 0.98
R6622:Cxxc5 UTSW 18 35,859,319 (GRCm38) missense possibly damaging 0.93
R6908:Cxxc5 UTSW 18 35,859,215 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-07-11