Incidental Mutation 'R3714:Mb'
ID 259817
Institutional Source Beutler Lab
Gene Symbol Mb
Ensembl Gene ENSMUSG00000018893
Gene Name myoglobin
Synonyms
MMRRC Submission 040707-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.552) question?
Stock # R3714 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76899687-76934868 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76901789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 102 (V102A)
Ref Sequence ENSEMBL: ENSMUSP00000155115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019037] [ENSMUST00000166179] [ENSMUST00000169226] [ENSMUST00000229125] [ENSMUST00000229423] [ENSMUST00000230031]
AlphaFold P04247
Predicted Effect probably benign
Transcript: ENSMUST00000019037
AA Change: V102A

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000019037
Gene: ENSMUSG00000018893
AA Change: V102A

DomainStartEndE-ValueType
Pfam:Globin 7 113 1.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166179
AA Change: V102A

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128399
Gene: ENSMUSG00000018893
AA Change: V102A

DomainStartEndE-ValueType
Pfam:Globin 7 113 1.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169226
AA Change: V102A

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125995
Gene: ENSMUSG00000018893
AA Change: V102A

DomainStartEndE-ValueType
Pfam:Globin 7 113 1.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229125
Predicted Effect probably benign
Transcript: ENSMUST00000229423
AA Change: V102A

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000230031
AA Change: V47A

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230714
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the globin superfamily and is expressed in skeletal and cardiac muscles. The encoded protein is a haemoprotein contributing to intracellular oxygen storage and transcellular facilitated diffusion of oxygen. At least three alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show increased cardiac capillary density, coronary flow, hemoglobin and hematocrit levels. Many mice homozygous for another null allele die of heart failure at midgestation; survivors show hypervascularity, altered NO metabolism, and hypoxia-induced cardiac dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Abcd4 C T 12: 84,658,533 (GRCm39) M223I probably benign Het
Adck5 G A 15: 76,478,138 (GRCm39) V229I probably damaging Het
Afg2a G A 3: 37,487,358 (GRCm39) V407I probably benign Het
Ankk1 T G 9: 49,333,013 (GRCm39) D157A possibly damaging Het
Atp1a2 A G 1: 172,106,551 (GRCm39) I817T probably damaging Het
Ccdc87 A G 19: 4,890,287 (GRCm39) S260G probably benign Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Cibar2 C T 8: 120,901,576 (GRCm39) R43H probably damaging Het
Cntnap5c C T 17: 58,199,062 (GRCm39) Q119* probably null Het
Cpb2 T A 14: 75,520,657 (GRCm39) probably null Het
Ddx47 T A 6: 134,996,025 (GRCm39) I329K probably damaging Het
Elavl3 G T 9: 21,929,895 (GRCm39) D336E probably benign Het
Fcsk G T 8: 111,613,891 (GRCm39) D723E probably damaging Het
Fras1 T C 5: 96,793,829 (GRCm39) probably null Het
Garem1 T A 18: 21,281,947 (GRCm39) E136D probably damaging Het
Haus6 A G 4: 86,521,104 (GRCm39) I178T probably benign Het
Igkv3-2 T G 6: 70,675,480 (GRCm39) V10G possibly damaging Het
Jrkl A C 9: 13,244,236 (GRCm39) I475R possibly damaging Het
Lcmt1 C T 7: 123,003,683 (GRCm39) H146Y probably damaging Het
Lipk A G 19: 34,017,829 (GRCm39) N289S probably damaging Het
Mc4r T A 18: 66,992,892 (GRCm39) N74Y probably damaging Het
Mink1 G T 11: 70,499,776 (GRCm39) R773L possibly damaging Het
Mroh2b A G 15: 4,973,131 (GRCm39) I1045V probably benign Het
Myo15a A T 11: 60,370,057 (GRCm39) E939V possibly damaging Het
Ndufs7 T C 10: 80,088,255 (GRCm39) I14T probably benign Het
Nlrp4b T C 7: 10,448,808 (GRCm39) V337A probably benign Het
Npm2 T C 14: 70,890,060 (GRCm39) probably null Het
Or10ab4 T C 7: 107,654,642 (GRCm39) F151S probably damaging Het
Or2h2c A G 17: 37,422,227 (GRCm39) Y216H probably damaging Het
Or4a68 G A 2: 89,269,727 (GRCm39) L299F probably damaging Het
Prdm9 T A 17: 15,777,623 (GRCm39) K154* probably null Het
Prkch C T 12: 73,822,290 (GRCm39) P630S probably damaging Het
Ptprn T C 1: 75,229,411 (GRCm39) probably null Het
Rnf31 T A 14: 55,840,851 (GRCm39) D884E probably damaging Het
Semp2l2a T G 8: 13,886,736 (GRCm39) I452L probably benign Het
Slc22a27 A T 19: 7,903,815 (GRCm39) N107K possibly damaging Het
Tln1 G T 4: 43,540,597 (GRCm39) A1468D probably damaging Het
Tmem185b T A 1: 119,454,781 (GRCm39) F181I possibly damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Trappc11 T C 8: 47,958,351 (GRCm39) probably benign Het
Vmn1r218 A T 13: 23,321,081 (GRCm39) N63Y probably damaging Het
Vps37c A G 19: 10,683,632 (GRCm39) D18G probably damaging Het
Other mutations in Mb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1860:Mb UTSW 15 76,901,784 (GRCm39) missense probably damaging 1.00
R2114:Mb UTSW 15 76,906,759 (GRCm39) missense probably benign 0.01
R2115:Mb UTSW 15 76,906,759 (GRCm39) missense probably benign 0.01
R4871:Mb UTSW 15 76,906,687 (GRCm39) critical splice donor site probably null
R7030:Mb UTSW 15 76,900,256 (GRCm39) missense probably damaging 1.00
R7916:Mb UTSW 15 76,900,257 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCACACTAAGGTGCTGGCC -3'
(R):5'- CCTGGATAAGTTTGACAAGTTCAAG -3'

Sequencing Primer
(F):5'- GCAAGCCATTAAATTGGATGCTGTG -3'
(R):5'- TCAAGAACTTGAAGTCAGAGGAAG -3'
Posted On 2015-01-23