Incidental Mutation 'R5016:Cygb'
ID 446651
Institutional Source Beutler Lab
Gene Symbol Cygb
Ensembl Gene ENSMUSG00000020810
Gene Name cytoglobin
Synonyms 3110001K20Rik, Staap
MMRRC Submission 042607-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5016 (G1)
Quality Score 116
Status Validated
Chromosome 11
Chromosomal Location 116536421-116544887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116540840 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CX80
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: 56,491,631 (GRCm39) P768S probably damaging Het
Adprhl1 A G 8: 13,274,889 (GRCm39) L623P possibly damaging Het
Anapc1 A T 2: 128,449,095 (GRCm39) probably benign Het
Ankzf1 C A 1: 75,172,622 (GRCm39) probably benign Het
Ash1l A G 3: 88,889,630 (GRCm39) D503G probably damaging Het
Atp7b T C 8: 22,505,885 (GRCm39) probably null Het
Bach1 T A 16: 87,516,206 (GRCm39) V249D possibly damaging Het
Ccdc158 A G 5: 92,805,751 (GRCm39) S335P probably benign Het
Chd9 T A 8: 91,733,254 (GRCm39) C1374* probably null Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Dnah17 G C 11: 117,971,592 (GRCm39) T2147S probably damaging Het
Drd3 C A 16: 43,582,609 (GRCm39) A34E possibly damaging Het
Ephb6 G A 6: 41,595,041 (GRCm39) R685Q probably benign Het
Ezh1 G A 11: 101,090,063 (GRCm39) probably benign Het
Gpr19 T A 6: 134,846,880 (GRCm39) K231* probably null Het
Gpr61 A G 3: 108,057,983 (GRCm39) V226A possibly damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hnrnpul2 A G 19: 8,800,189 (GRCm39) K185R possibly damaging Het
Igsf9 A C 1: 172,318,279 (GRCm39) T140P probably damaging Het
Ksr2 A G 5: 117,638,857 (GRCm39) D87G probably benign Het
Llgl2 A G 11: 115,744,250 (GRCm39) E843G probably damaging Het
Ltbp4 GT G 7: 27,027,110 (GRCm39) probably null Het
Luc7l2 A G 6: 38,562,036 (GRCm39) I20V possibly damaging Het
Mcm6 G A 1: 128,271,164 (GRCm39) T485M probably damaging Het
Miox A G 15: 89,219,767 (GRCm39) D85G probably null Het
Nudt18 T C 14: 70,816,903 (GRCm39) F169S probably benign Het
Nxpe4 A G 9: 48,304,185 (GRCm39) N91D probably benign Het
Or13c7 T C 4: 43,854,596 (GRCm39) S96P probably benign Het
Or6c215 A G 10: 129,637,662 (GRCm39) V244A probably benign Het
Or8k39 T G 2: 86,563,090 (GRCm39) I289L probably benign Het
Pdss2 G T 10: 43,098,001 (GRCm39) A82S probably damaging Het
Ptprs T C 17: 56,726,070 (GRCm39) D998G probably damaging Het
Rasd2 C A 8: 75,948,603 (GRCm39) N176K probably damaging Het
Serpinb3a A G 1: 106,974,060 (GRCm39) F284L probably damaging Het
Skint6 T A 4: 113,028,730 (GRCm39) probably null Het
Slc12a6 C T 2: 112,186,972 (GRCm39) probably benign Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Sp2 A T 11: 96,846,658 (GRCm39) C562S probably damaging Het
Specc1 A G 11: 62,009,783 (GRCm39) E433G possibly damaging Het
Sspo C T 6: 48,429,214 (GRCm39) Q451* probably null Het
St6galnac1 A T 11: 116,656,706 (GRCm39) S478T probably damaging Het
Steap4 C T 5: 8,026,699 (GRCm39) R221* probably null Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Vmn1r202 A T 13: 22,686,375 (GRCm39) F14Y probably damaging Het
Vmn2r79 T C 7: 86,686,548 (GRCm39) V643A probably benign Het
Vmn2r91 C A 17: 18,330,322 (GRCm39) Y535* probably null Het
Wdr3 A T 3: 100,048,936 (GRCm39) probably benign Het
Wdr95 T C 5: 149,468,266 (GRCm39) M41T probably benign Het
Other mutations in Cygb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:Cygb APN 11 116,540,749 (GRCm39) missense probably damaging 1.00
R2129:Cygb UTSW 11 116,540,668 (GRCm39) missense probably damaging 1.00
R2567:Cygb UTSW 11 116,540,692 (GRCm39) missense probably damaging 0.99
R7070:Cygb UTSW 11 116,544,851 (GRCm39) intron probably benign
R7870:Cygb UTSW 11 116,540,116 (GRCm39) missense probably benign 0.00
R8125:Cygb UTSW 11 116,540,116 (GRCm39) missense probably benign 0.00
R8369:Cygb UTSW 11 116,540,109 (GRCm39) missense probably benign
R8947:Cygb UTSW 11 116,540,645 (GRCm39) missense probably damaging 1.00
X0026:Cygb UTSW 11 116,540,191 (GRCm39) 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 On 2016-12-08