Incidental Mutation 'R4250:Hba-x'
ID 321316
Institutional Source Beutler Lab
Gene Symbol Hba-x
Ensembl Gene ENSMUSG00000055609
Gene Name hemoglobin X, alpha-like embryonic chain in Hba complex
Synonyms zeta globin
MMRRC Submission 041066-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4250 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 32226600-32228116 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32228000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 155 (Y155H)
Ref Sequence ENSEMBL: ENSMUSP00000118167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020531] [ENSMUST00000145569]
AlphaFold P06467
Predicted Effect probably damaging
Transcript: ENSMUST00000020531
AA Change: Y141H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020531
Gene: ENSMUSG00000055609
AA Change: Y141H

DomainStartEndE-ValueType
Pfam:Globin 7 107 2.8e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145569
AA Change: Y155H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118167
Gene: ENSMUSG00000055609
AA Change: Y155H

DomainStartEndE-ValueType
Pfam:Globin 33 121 4.5e-21 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele show background sensitive prenatal lethality, variation in postnatal size and pallor, reduced litter size, and a thalassemia-like picture with anisocytosis, poikilocytosis, polychromasia, reduced mean corpuscular volume and hemoglobin, and increased platelet count. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl2a1d C T 9: 88,613,706 (GRCm39) V23I probably benign Het
Birc2 A T 9: 7,818,936 (GRCm39) L552M probably benign Het
Chst3 A T 10: 60,021,890 (GRCm39) L319Q probably damaging Het
Col19a1 T C 1: 24,564,726 (GRCm39) T296A unknown Het
Colgalt2 A T 1: 152,365,638 (GRCm39) I313L probably benign Het
Dclre1b A C 3: 103,711,400 (GRCm39) probably null Het
Ezr A T 17: 7,022,196 (GRCm39) I94N probably damaging Het
Fry T G 5: 150,233,825 (GRCm39) I99S probably damaging Het
Herc3 T A 6: 58,893,501 (GRCm39) V921D probably damaging Het
Hoxb5 T C 11: 96,194,854 (GRCm39) S139P possibly damaging Het
Icam5 A G 9: 20,949,035 (GRCm39) T796A probably damaging Het
Igkv8-26 G A 6: 70,170,230 (GRCm39) V7I probably benign Het
Ikzf1 C T 11: 11,704,166 (GRCm39) T194M probably damaging Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Or5b97 T C 19: 12,878,368 (GRCm39) M259V probably benign Het
Padi2 A G 4: 140,633,857 (GRCm39) Y38C probably damaging Het
Pilra A T 5: 137,821,814 (GRCm39) S274T probably benign Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Rreb1 T C 13: 38,077,869 (GRCm39) V27A possibly damaging Het
Rxfp1 A G 3: 79,559,579 (GRCm39) V414A probably benign Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Sirt1 T A 10: 63,172,877 (GRCm39) probably null Het
Slc5a6 A G 5: 31,195,062 (GRCm39) S512P probably benign Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Sp7 T A 15: 102,267,327 (GRCm39) T160S possibly damaging Het
Tcte1 A G 17: 45,850,617 (GRCm39) I298V probably benign Het
Trmt9b C A 8: 36,979,366 (GRCm39) T323K probably benign Het
Ttc4 G A 4: 106,522,880 (GRCm39) T346I probably damaging Het
Ttn T C 2: 76,544,056 (GRCm39) T32977A probably damaging Het
Yeats2 A G 16: 19,975,685 (GRCm39) K114E possibly damaging Het
Zdbf2 T C 1: 63,342,020 (GRCm39) V133A possibly damaging Het
Other mutations in Hba-x
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3079:Hba-x UTSW 11 32,227,616 (GRCm39) missense probably damaging 1.00
R4856:Hba-x UTSW 11 32,227,008 (GRCm39) missense probably benign 0.16
R4886:Hba-x UTSW 11 32,227,008 (GRCm39) missense probably benign 0.16
R8422:Hba-x UTSW 11 32,227,736 (GRCm39) missense probably benign 0.03
R8492:Hba-x UTSW 11 32,227,921 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATCCGGTCAACTTCAAGGTG -3'
(R):5'- TCAGTGCATCCCGTAGTGTC -3'

Sequencing Primer
(F):5'- CAACTTCAAGGTGGGTTTATGAG -3'
(R):5'- GCATCCCGTAGTGTCCCCATC -3'
Posted On 2015-06-12