Incidental Mutation 'R6060:Ngb'
ID 483200
Institutional Source Beutler Lab
Gene Symbol Ngb
Ensembl Gene ENSMUSG00000021032
Gene Name neuroglobin
Synonyms
MMRRC Submission 044426-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.039) question?
Stock # R6060 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 87144305-87149313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 87146963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 85 (S85A)
Ref Sequence ENSEMBL: ENSMUSP00000105805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021420] [ENSMUST00000110176] [ENSMUST00000110177]
AlphaFold Q9ER97
Predicted Effect probably benign
Transcript: ENSMUST00000021420
SMART Domains Protein: ENSMUSP00000021420
Gene: ENSMUSG00000021032

DomainStartEndE-ValueType
Pfam:Globin 5 114 2.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110176
AA Change: S85A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000105805
Gene: ENSMUSG00000021032
AA Change: S85A

DomainStartEndE-ValueType
Pfam:Globin 5 89 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110177
SMART Domains Protein: ENSMUSP00000105806
Gene: ENSMUSG00000021032

DomainStartEndE-ValueType
Pfam:Globin 5 112 2.9e-15 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an oxygen-binding protein that is distantly related to members of the globin gene family. It is highly conserved among other vertebrates. It is expressed in the central and peripheral nervous system where it may be involved in increasing oxygen availability and providing protection under hypoxic/ischemic conditions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a significantly larger phase delay of circadian rhythm upon light stimulation at early night. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A G 16: 88,966,630 (GRCm39) probably null Het
Adh1 T C 3: 137,992,544 (GRCm39) I220T probably damaging Het
Ajap1 G A 4: 153,516,699 (GRCm39) T214I probably damaging Het
Ank2 A G 3: 126,749,601 (GRCm39) F476S probably damaging Het
Atp6v1g3 A G 1: 138,201,582 (GRCm39) K27E possibly damaging Het
BC034090 A G 1: 155,117,245 (GRCm39) I291T probably benign Het
Cnot9 T A 1: 74,556,285 (GRCm39) N27K probably benign Het
Cyp2c70 A T 19: 40,153,857 (GRCm39) L244* probably null Het
Cyp2d22 T C 15: 82,260,086 (GRCm39) T6A probably benign Het
D630045J12Rik T C 6: 38,107,799 (GRCm39) E1829G probably damaging Het
Dnajc4 G T 19: 6,968,093 (GRCm39) S61* probably null Het
Dpysl4 A G 7: 138,669,324 (GRCm39) M1V probably null Het
Fam149a T A 8: 45,811,799 (GRCm39) probably benign Het
Fam184b T C 5: 45,710,489 (GRCm39) E547G probably damaging Het
Fam47e T A 5: 92,727,472 (GRCm39) F127I possibly damaging Het
Ifi207 G A 1: 173,558,093 (GRCm39) T215I unknown Het
Iftap T C 2: 101,440,950 (GRCm39) K18E probably benign Het
Lpxn T C 19: 12,810,489 (GRCm39) L311P probably damaging Het
Lrp1b A T 2: 40,640,946 (GRCm39) N3499K Het
Mknk2 A T 10: 80,507,468 (GRCm39) D76E probably benign Het
Nectin2 A T 7: 19,451,700 (GRCm39) Y445N probably damaging Het
Nrp1 C A 8: 129,224,419 (GRCm39) H727Q probably damaging Het
Or5b112 C T 19: 13,319,497 (GRCm39) A125V probably benign Het
Or6k2 C A 1: 173,986,907 (GRCm39) C189* probably null Het
Pold3 A C 7: 99,749,819 (GRCm39) Y115* probably null Het
Ppp1r12b C G 1: 134,883,262 (GRCm39) V87L probably benign Het
Ppp1r26 A G 2: 28,341,042 (GRCm39) N224S probably benign Het
Prl7a1 G A 13: 27,821,571 (GRCm39) P122S probably damaging Het
Rc3h2 T C 2: 37,289,612 (GRCm39) H400R possibly damaging Het
Rnf32 A T 5: 29,411,752 (GRCm39) I214L probably benign Het
Safb2 A T 17: 56,870,246 (GRCm39) probably null Het
Serpinb6e A G 13: 34,025,256 (GRCm39) C12R possibly damaging Het
Sh2b2 A T 5: 136,261,209 (GRCm39) N2K possibly damaging Het
Slc12a4 G A 8: 106,672,338 (GRCm39) A821V probably damaging Het
Slc41a1 A G 1: 131,767,972 (GRCm39) M179V probably benign Het
Slc9a3 A G 13: 74,299,004 (GRCm39) Y141C probably damaging Het
Tenm4 G A 7: 96,522,918 (GRCm39) V1450I probably damaging Het
Trmt1l A G 1: 151,333,331 (GRCm39) N642S possibly damaging Het
Ttll13 G A 7: 79,908,491 (GRCm39) R576H probably damaging Het
Zar1 T A 5: 72,738,272 (GRCm39) R43S probably benign Het
Zfp455 A G 13: 67,355,257 (GRCm39) Y175C probably damaging Het
Other mutations in Ngb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0457:Ngb UTSW 12 87,147,503 (GRCm39) missense probably damaging 1.00
R4782:Ngb UTSW 12 87,146,999 (GRCm39) missense probably benign 0.11
R9526:Ngb UTSW 12 87,145,317 (GRCm39) missense possibly damaging 0.78
X0062:Ngb UTSW 12 87,146,819 (GRCm39) missense possibly damaging 0.64
Z1176:Ngb UTSW 12 87,145,203 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCTGGAATGAGAACGTACCC -3'
(R):5'- TTCCACGCCGGCAATATTG -3'

Sequencing Primer
(F):5'- AGAAGGAGCTGAGCCTCACTC -3'
(R):5'- CGCCGGCAATATTGTTCTGCAG -3'
Posted On 2017-07-14