Incidental Mutation 'R2567:Cygb'
ID 254574
Institutional Source Beutler Lab
Gene Symbol Cygb
Ensembl Gene ENSMUSG00000020810
Gene Name cytoglobin
Synonyms 3110001K20Rik, Staap
MMRRC Submission 040426-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2567 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 116536421-116544887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116540692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 98 (D98G)
Ref Sequence ENSEMBL: ENSMUSP00000021166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021166] [ENSMUST00000106381] [ENSMUST00000148484] [ENSMUST00000178875]
AlphaFold Q9CX80
Predicted Effect probably damaging
Transcript: ENSMUST00000021166
AA Change: D98G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021166
Gene: ENSMUSG00000020810
AA Change: D98G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,836,475 (GRCm39) probably benign Het
Aebp1 A G 11: 5,820,251 (GRCm39) D409G probably benign Het
Akap10 A G 11: 61,784,175 (GRCm39) probably benign Het
Akap6 G T 12: 52,985,156 (GRCm39) S863I probably damaging Het
Ap1s3 T C 1: 79,602,921 (GRCm39) K29E possibly damaging Het
Atm T A 9: 53,368,770 (GRCm39) I2341L possibly damaging Het
Atp12a A T 14: 56,624,384 (GRCm39) D944V probably damaging Het
Baz2b A T 2: 59,744,255 (GRCm39) S1417T possibly damaging Het
Cacna1a T A 8: 85,276,354 (GRCm39) M613K probably damaging Het
Ccdc191 A C 16: 43,764,330 (GRCm39) probably null Het
Cd209d T A 8: 3,926,327 (GRCm39) N96I probably damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdk4 T G 10: 126,900,145 (GRCm39) V14G probably benign Het
Chrna10 C A 7: 101,761,276 (GRCm39) M438I probably benign Het
Clec10a T C 11: 70,060,358 (GRCm39) probably null Het
Cog3 A G 14: 75,991,730 (GRCm39) V40A probably benign Het
Creb3l3 T C 10: 80,921,883 (GRCm39) H315R probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cubn A G 2: 13,283,167 (GRCm39) probably null Het
Dmbx1 T C 4: 115,777,489 (GRCm39) K120E probably damaging Het
Dnah3 T A 7: 119,551,920 (GRCm39) I2800F possibly damaging Het
Dntt G T 19: 41,029,775 (GRCm39) R245L possibly damaging Het
Dock1 T G 7: 134,747,213 (GRCm39) V1508G probably damaging Het
Enpp4 A C 17: 44,412,736 (GRCm39) I266R probably damaging Het
Fhl4 T C 10: 84,934,644 (GRCm39) I46V possibly damaging Het
Fn1 G A 1: 71,636,895 (GRCm39) Q1995* probably null Het
Foxl3 A G 5: 138,805,940 (GRCm39) S36G probably null Het
Foxo1 T A 3: 52,176,755 (GRCm39) L178H probably damaging Het
Galnt18 C T 7: 111,153,823 (GRCm39) R267H probably damaging Het
Gm1110 T C 9: 26,831,992 (GRCm39) D53G probably benign Het
Gm7104 A T 12: 88,252,242 (GRCm39) noncoding transcript Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Haus6 C A 4: 86,504,122 (GRCm39) E501* probably null Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Kdelr3 A G 15: 79,407,032 (GRCm39) I38V probably benign Het
Lamb1 A G 12: 31,319,054 (GRCm39) probably null Het
Larp7-ps T C 4: 92,079,560 (GRCm39) E87G probably benign Het
Mgat4c T A 10: 102,214,123 (GRCm39) F35L probably benign Het
Mmab A T 5: 114,571,378 (GRCm39) M166K probably benign Het
Mrpl2 A G 17: 46,958,427 (GRCm39) T70A probably benign Het
Naa11 C T 5: 97,539,618 (GRCm39) G180D probably benign Het
Npy6r T C 18: 44,408,888 (GRCm39) V103A possibly damaging Het
Nup188 A T 2: 30,231,794 (GRCm39) R1463W possibly damaging Het
Nusap1 T A 2: 119,474,311 (GRCm39) S336R possibly damaging Het
Or8b12c T A 9: 37,715,509 (GRCm39) F101I probably damaging Het
Pabpc4 T A 4: 123,191,744 (GRCm39) L589Q probably damaging Het
Pcdh12 T A 18: 38,415,149 (GRCm39) N659Y probably damaging Het
Perm1 T C 4: 156,301,575 (GRCm39) S40P probably damaging Het
Phldb1 T C 9: 44,637,322 (GRCm39) T114A probably damaging Het
Pirt C T 11: 66,816,985 (GRCm39) L99F probably damaging Het
Plxdc2 A G 2: 16,716,995 (GRCm39) R360G probably benign Het
Rhpn2 G A 7: 35,080,957 (GRCm39) probably null Het
Rpusd2 T A 2: 118,867,556 (GRCm39) I268N probably damaging Het
Sds G T 5: 120,619,646 (GRCm39) W185L probably damaging Het
Serpinb5 A G 1: 106,802,876 (GRCm39) K137R probably benign Het
Sh3pxd2a A G 19: 47,413,008 (GRCm39) V25A possibly damaging Het
Slc1a2 C T 2: 102,597,355 (GRCm39) T454I probably damaging Het
Slc25a40 T C 5: 8,480,459 (GRCm39) C70R probably damaging Het
Smoc1 G A 12: 81,214,364 (GRCm39) E260K probably damaging Het
Sparcl1 A T 5: 104,232,954 (GRCm39) F616I probably damaging Het
Ssc5d A T 7: 4,939,334 (GRCm39) D590V probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm2 C T 10: 77,777,008 (GRCm39) V430M probably damaging Het
Ttn T C 2: 76,574,672 (GRCm39) D25407G probably damaging Het
Vmn2r68 T C 7: 84,883,803 (GRCm39) I101V probably benign Het
Xrcc4 A T 13: 90,210,261 (GRCm39) M61K probably damaging Het
Zfp648 A G 1: 154,080,695 (GRCm39) T285A probably damaging 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
R5016:Cygb UTSW 11 116,540,840 (GRCm39) missense probably benign 0.19
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'- TCTCTGCTATTCAGGAGCCC -3'
(R):5'- GTGGGGACATAACTACTTCTCC -3'

Sequencing Primer
(F):5'- CCTCCCAGAGCTATAGGTTGTAG -3'
(R):5'- CATCTTGGCCATTCCGGAG -3'
Posted On 2014-12-04