Incidental Mutation 'R5016:Cygb'
ID446651
Institutional Source Beutler Lab
Gene Symbol Cygb
Ensembl Gene ENSMUSG00000020810
Gene Namecytoglobin
Synonyms3110001K20Rik, Staap
MMRRC Submission 042607-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5016 (G1)
Quality Score116
Status Validated
Chromosome11
Chromosomal Location116645595-116654313 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116650014 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 49 (F49L)
Ref Sequence ENSEMBL: ENSMUSP00000021166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021166] [ENSMUST00000106381] [ENSMUST00000148484] [ENSMUST00000178875]
Predicted Effect probably benign
Transcript: ENSMUST00000021166
AA Change: F49L

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000021166
Gene: ENSMUSG00000020810
AA Change: F49L

DomainStartEndE-ValueType
Pfam:Globin 23 132 1.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106381
SMART Domains Protein: ENSMUSP00000101989
Gene: ENSMUSG00000075410

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148484
SMART Domains Protein: ENSMUSP00000119671
Gene: ENSMUSG00000075410

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178875
Meta Mutation Damage Score 0.1658 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 91.0%
Validation Efficiency 97% (56/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a globin protein found in vertebrate cells. The encoded protein is described as a hexacoordinate hemoglobin which binds ligand differently from the pentacoordinate hemoglobins involved in oxygen transport, and may be involved in protection during oxidative stress. This gene is located on chromosome 17 in the same region as a retinal gene which is mutated in progressive rod-cone degeneration, but in the opposite orientation. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display increased sensitivity to chemically induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,671,268 P768S probably damaging Het
Adprhl1 A G 8: 13,224,889 L623P possibly damaging Het
Anapc1 A T 2: 128,607,175 probably benign Het
Ankzf1 C A 1: 75,195,978 probably benign Het
Ash1l A G 3: 88,982,323 D503G probably damaging Het
Atp7b T C 8: 22,015,869 probably null Het
Bach1 T A 16: 87,719,318 V249D possibly damaging Het
Ccdc158 A G 5: 92,657,892 S335P probably benign Het
Chd9 T A 8: 91,006,626 C1374* probably null Het
Col16a1 C T 4: 130,079,195 T643M probably benign Het
Dnah17 G C 11: 118,080,766 T2147S probably damaging Het
Drd3 C A 16: 43,762,246 A34E possibly damaging Het
Ephb6 G A 6: 41,618,107 R685Q probably benign Het
Ezh1 G A 11: 101,199,237 probably benign Het
Gpr19 T A 6: 134,869,917 K231* probably null Het
Gpr61 A G 3: 108,150,667 V226A possibly damaging Het
Gprc5c G T 11: 114,864,267 V257L possibly damaging Het
Hnrnpul2 A G 19: 8,822,825 K185R possibly damaging Het
Igsf9 A C 1: 172,490,712 T140P probably damaging Het
Ksr2 A G 5: 117,500,792 D87G probably benign Het
Llgl2 A G 11: 115,853,424 E843G probably damaging Het
Ltbp4 GT G 7: 27,327,685 probably null Het
Luc7l2 A G 6: 38,585,101 I20V possibly damaging Het
Mcm6 G A 1: 128,343,427 T485M probably damaging Het
Miox A G 15: 89,335,564 D85G probably null Het
Nudt18 T C 14: 70,579,463 F169S probably benign Het
Nxpe4 A G 9: 48,392,885 N91D probably benign Het
Olfr1089 T G 2: 86,732,746 I289L probably benign Het
Olfr155 T C 4: 43,854,596 S96P probably benign Het
Olfr811 A G 10: 129,801,793 V244A probably benign Het
Pdss2 G T 10: 43,222,005 A82S probably damaging Het
Ptprs T C 17: 56,419,070 D998G probably damaging Het
Rasd2 C A 8: 75,221,975 N176K probably damaging Het
Serpinb3a A G 1: 107,046,330 F284L probably damaging Het
Skint6 T A 4: 113,171,533 probably null Het
Slc12a6 C T 2: 112,356,627 probably benign Het
Slc22a19 G A 19: 7,674,372 T490M probably benign Het
Sp2 A T 11: 96,955,832 C562S probably damaging Het
Specc1 A G 11: 62,118,957 E433G possibly damaging Het
Sspo C T 6: 48,452,280 Q451* probably null Het
St6galnac1 A T 11: 116,765,880 S478T probably damaging Het
Steap4 C T 5: 7,976,699 R221* probably null Het
Ugt1a5 C G 1: 88,166,241 R64G probably benign Het
Vmn1r202 A T 13: 22,502,205 F14Y probably damaging Het
Vmn2r79 T C 7: 87,037,340 V643A probably benign Het
Vmn2r91 C A 17: 18,110,060 Y535* probably null Het
Wdr3 A T 3: 100,141,620 probably benign Het
Wdr95 T C 5: 149,544,801 M41T probably benign Het
Other mutations in Cygb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:Cygb APN 11 116649923 missense probably damaging 1.00
R2129:Cygb UTSW 11 116649842 missense probably damaging 1.00
R2567:Cygb UTSW 11 116649866 missense probably damaging 0.99
R7070:Cygb UTSW 11 116654025 intron probably benign
R7870:Cygb UTSW 11 116649290 missense probably benign 0.00
R7953:Cygb UTSW 11 116649290 missense probably benign 0.00
X0026:Cygb UTSW 11 116649365 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAGGATACCTTGTCTGGGTC -3'
(R):5'- AAGTGCATCTGTCTGGCTG -3'

Sequencing Primer
(F):5'- TCATGCAGGTTCTCCACGACAG -3'
(R):5'- TGTAGGCACAGCTCAGTCAGTG -3'
Posted On2016-12-08