Incidental Mutation 'R4871:Mb'
ID 430236
Institutional Source Beutler Lab
Gene Symbol Mb
Ensembl Gene ENSMUSG00000018893
Gene Name myoglobin
Synonyms
MMRRC Submission 042481-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.579) question?
Stock # R4871 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76899687-76934868 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 76906687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019037] [ENSMUST00000019037] [ENSMUST00000166179] [ENSMUST00000169226] [ENSMUST00000229125] [ENSMUST00000229423] [ENSMUST00000230031]
AlphaFold P04247
Predicted Effect probably null
Transcript: ENSMUST00000019037
SMART Domains Protein: ENSMUSP00000019037
Gene: ENSMUSG00000018893

DomainStartEndE-ValueType
Pfam:Globin 7 113 1.1e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000019037
SMART Domains Protein: ENSMUSP00000019037
Gene: ENSMUSG00000018893

DomainStartEndE-ValueType
Pfam:Globin 7 113 1.1e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166179
SMART Domains Protein: ENSMUSP00000128399
Gene: ENSMUSG00000018893

DomainStartEndE-ValueType
Pfam:Globin 7 113 1.1e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169226
SMART Domains Protein: ENSMUSP00000125995
Gene: ENSMUSG00000018893

DomainStartEndE-ValueType
Pfam:Globin 7 113 1.1e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000229125
Predicted Effect probably null
Transcript: ENSMUST00000229423
Predicted Effect probably benign
Transcript: ENSMUST00000230031
Meta Mutation Damage Score 0.9488 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 93% (99/107)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 A G 6: 55,457,078 (GRCm39) T270A probably null Het
Adgrv1 A T 13: 81,681,241 (GRCm39) probably benign Het
Aldh1b1 A T 4: 45,803,383 (GRCm39) D307V probably benign Het
Aldh3a2 A T 11: 61,153,065 (GRCm39) C220* probably null Het
Ank2 T C 3: 126,753,444 (GRCm39) Y279C probably damaging Het
Anks1 T C 17: 28,210,351 (GRCm39) Y444H probably benign Het
Asph G T 4: 9,531,968 (GRCm39) T383K probably benign Het
Asphd1 G T 7: 126,547,747 (GRCm39) S185R possibly damaging Het
Bcl2a1d T A 9: 88,613,748 (GRCm39) I9F probably damaging Het
Bcl2l11 T C 2: 127,970,961 (GRCm39) probably benign Het
C2cd3 T G 7: 100,062,581 (GRCm39) S656A possibly damaging Het
Cd5l T C 3: 87,274,929 (GRCm39) V156A probably damaging Het
Cdh8 G C 8: 99,757,536 (GRCm39) N687K probably damaging Het
Cdk19 A G 10: 40,352,232 (GRCm39) D338G probably benign Het
Cenpf A G 1: 189,390,728 (GRCm39) C1035R probably damaging Het
Cep290 A G 10: 100,384,776 (GRCm39) R1845G probably benign Het
Cep295nl G T 11: 118,224,650 (GRCm39) Q65K probably damaging Het
Ciz1 T C 2: 32,262,300 (GRCm39) probably benign Het
Clasrp T C 7: 19,324,173 (GRCm39) D234G possibly damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Ddr2 A G 1: 169,832,340 (GRCm39) V150A probably benign Het
Dennd10 A G 19: 60,819,252 (GRCm39) E120G probably damaging Het
Dnah7b T C 1: 46,120,604 (GRCm39) S74P probably benign Het
Dnttip2 C A 3: 122,078,750 (GRCm39) A743E probably damaging Het
Dysf A T 6: 84,044,005 (GRCm39) Q281L possibly damaging Het
Ece2 A G 16: 20,462,905 (GRCm39) E610G probably damaging Het
Edem3 T G 1: 151,679,982 (GRCm39) probably null Het
Ext1 G T 15: 52,955,773 (GRCm39) N441K probably benign Het
Fam118a A G 15: 84,942,969 (GRCm39) R333G probably damaging Het
Fat4 C T 3: 38,945,754 (GRCm39) T1549I probably damaging Het
Fbxo4 A G 15: 4,005,394 (GRCm39) V162A probably damaging Het
Fgd2 A G 17: 29,592,223 (GRCm39) H385R possibly damaging Het
Garnl3 A T 2: 32,977,100 (GRCm39) M1K probably null Het
Gm37267 T G 1: 180,338,083 (GRCm39) noncoding transcript Het
Gpbar1 C T 1: 74,318,702 (GRCm39) A315V probably damaging Het
Grm2 T C 9: 106,524,844 (GRCm39) I624V probably benign Het
Hmcn1 T C 1: 150,468,836 (GRCm39) I5042V probably benign Het
Hnf4g T C 3: 3,716,448 (GRCm39) Y291H possibly damaging Het
Ighm A G 12: 113,385,241 (GRCm39) S240P unknown Het
Igkv4-91 A G 6: 68,745,604 (GRCm39) I98T probably damaging Het
Krt72 T C 15: 101,694,469 (GRCm39) N142S probably damaging Het
Kynu T A 2: 43,569,830 (GRCm39) Y371N possibly damaging Het
Ly9 G T 1: 171,434,898 (GRCm39) probably benign Het
Man1a2 C A 3: 100,524,372 (GRCm39) V359F probably damaging Het
Mast1 T C 8: 85,647,287 (GRCm39) I623M probably damaging Het
Mcm4 A C 16: 15,452,374 (GRCm39) L113* probably null Het
Mcub C T 3: 129,710,685 (GRCm39) W249* probably null Het
Mme T A 3: 63,247,453 (GRCm39) V246E probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrpl38 A G 11: 116,025,098 (GRCm39) Y232H probably damaging Het
Myh7b T A 2: 155,455,420 (GRCm39) M89K probably benign Het
Notch4 A G 17: 34,796,536 (GRCm39) S892G possibly damaging Het
Nt5dc3 A G 10: 86,652,941 (GRCm39) Y245C probably damaging Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,103,852 (GRCm39) probably benign Het
Or12d12 T A 17: 37,611,095 (GRCm39) T73S probably benign Het
Or12d14-ps1 A T 17: 37,673,337 (GRCm39) I107L probably benign Het
Or14a259 A T 7: 86,012,692 (GRCm39) N284K probably damaging Het
Or5m12 T A 2: 85,734,715 (GRCm39) I228F probably benign Het
Or8b36 G T 9: 37,937,822 (GRCm39) C240F probably damaging Het
Or8k28 A T 2: 86,286,153 (GRCm39) I154N possibly damaging Het
Palld A T 8: 62,002,815 (GRCm39) probably benign Het
Pcdhga10 T C 18: 37,881,253 (GRCm39) V338A probably damaging Het
Pcdhga11 A G 18: 37,890,459 (GRCm39) Y489C probably damaging Het
Pgm2 T C 5: 64,261,237 (GRCm39) Y244H probably benign Het
Phactr4 A T 4: 132,105,759 (GRCm39) S102R probably damaging Het
Plekha5 A G 6: 140,471,636 (GRCm39) Y20C probably damaging Het
Rdh19 A G 10: 127,696,013 (GRCm39) D255G probably benign Het
Rgs3 T C 4: 62,549,532 (GRCm39) V438A probably benign Het
Rnf186 A G 4: 138,695,254 (GRCm39) T265A probably benign Het
Ror1 T C 4: 100,283,195 (GRCm39) F420S probably benign Het
Rtkn2 A G 10: 67,841,463 (GRCm39) K204E probably damaging Het
Rundc1 A G 11: 101,324,874 (GRCm39) T527A probably benign Het
Samd4 T C 14: 47,303,920 (GRCm39) S301P probably damaging Het
Scaf1 G A 7: 44,655,303 (GRCm39) probably benign Het
Srgap2 A G 1: 131,217,210 (GRCm39) V1034A probably benign Het
Stab2 T C 10: 86,778,099 (GRCm39) D743G probably damaging Het
Stim1 A T 7: 102,003,779 (GRCm39) I71F probably damaging Het
Stk17b T C 1: 53,796,693 (GRCm39) D358G probably benign Het
Sun2 A G 15: 79,611,765 (GRCm39) Y551H probably damaging Het
Tas2r110 A T 6: 132,845,091 (GRCm39) T41S probably benign Het
Tead3 T A 17: 28,552,589 (GRCm39) E268V probably damaging Het
Tead3 A G 17: 28,553,962 (GRCm39) S131P probably benign Het
Tepsin A T 11: 119,982,351 (GRCm39) M505K possibly damaging Het
Trbv28 A G 6: 41,248,668 (GRCm39) Y66C possibly damaging Het
Ttc6 A G 12: 57,749,142 (GRCm39) Q1358R probably damaging Het
Ttll2 C T 17: 7,618,998 (GRCm39) V310I probably benign Het
Uaca T C 9: 60,753,283 (GRCm39) V76A probably damaging Het
Vwf A T 6: 125,663,425 (GRCm39) T2789S probably benign Het
Yipf4 T C 17: 74,801,089 (GRCm39) F136L probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp804b A T 5: 6,926,479 (GRCm39) D51E probably damaging Het
Zfyve9 C T 4: 108,538,183 (GRCm39) G969R 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
R3714:Mb UTSW 15 76,901,789 (GRCm39) missense probably benign 0.26
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'- TGGACTGTTTGATGCTCAAGC -3'
(R):5'- GGTATAAAAGCCCTTCAGGACC -3'

Sequencing Primer
(F):5'- CAAGCTTGCTTTGGTTGCTGAC -3'
(R):5'- CAGGTGGCCTCAAATCTCAG -3'
Posted On 2016-09-26