Incidental Mutation 'R3079:Hba-x'
ID 265345
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 040569-MU
Accession Numbers
Essential gene? Not available question?
Stock # R3079 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 32226600-32228116 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32227616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 62 (D62G)
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: D48G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020531
Gene: ENSMUSG00000055609
AA Change: D48G

DomainStartEndE-ValueType
Pfam:Globin 7 107 2.8e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145569
AA Change: D62G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118167
Gene: ENSMUSG00000055609
AA Change: D62G

DomainStartEndE-ValueType
Pfam:Globin 33 121 4.5e-21 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,248,879 (GRCm39) L168H probably damaging Het
Abca15 T C 7: 119,984,392 (GRCm39) W1158R probably damaging Het
Anks4b A T 7: 119,781,146 (GRCm39) D59V probably damaging Het
Aqp11 A T 7: 97,386,795 (GRCm39) C134S probably benign Het
Arhgap35 A G 7: 16,296,501 (GRCm39) Y855H probably damaging Het
Ces1c A C 8: 93,846,975 (GRCm39) L93R probably damaging Het
Cit A G 5: 116,063,545 (GRCm39) D462G probably damaging Het
Col6a6 T C 9: 105,631,422 (GRCm39) R1494G probably benign Het
Edc4 T C 8: 106,611,750 (GRCm39) S109P possibly damaging Het
Elp4 T C 2: 105,639,790 (GRCm39) K130E possibly damaging Het
Gemin5 A T 11: 58,036,345 (GRCm39) V666E probably damaging Het
Hnrnpul1 A T 7: 25,432,540 (GRCm39) Y474* probably null Het
Ighv5-6 T A 12: 113,589,237 (GRCm39) D81V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Mbtps1 A G 8: 120,257,944 (GRCm39) V431A probably benign Het
Mbtps1 T C 8: 120,265,602 (GRCm39) D315G probably damaging Het
Mrc2 T C 11: 105,227,539 (GRCm39) S591P probably damaging Het
Msh5 T C 17: 35,265,208 (GRCm39) E48G probably benign Het
Mybpc2 T C 7: 44,155,505 (GRCm39) D916G probably damaging Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Nlrp1b T C 11: 71,108,794 (GRCm39) R236G probably benign Het
Obsl1 G T 1: 75,467,467 (GRCm39) R1436S probably damaging Het
Or14j4 T C 17: 37,921,169 (GRCm39) T158A probably benign Het
Or51a7 C T 7: 102,622,254 (GRCm39) probably null Het
Padi2 T C 4: 140,677,189 (GRCm39) V659A probably damaging Het
Pnpla6 T G 8: 3,591,512 (GRCm39) S1169A probably benign Het
Pramel30 T G 4: 144,058,098 (GRCm39) L235R probably damaging Het
Prl6a1 A G 13: 27,502,983 (GRCm39) D193G possibly damaging Het
Rce1 G T 19: 4,674,750 (GRCm39) C138* probably null Het
Shoc1 G T 4: 59,047,848 (GRCm39) T1257N possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint2 A G 4: 112,496,870 (GRCm39) T259A probably benign Het
Slc66a1 G T 4: 139,033,829 (GRCm39) A30D probably damaging Het
Slco5a1 C T 1: 12,949,486 (GRCm39) G635S probably damaging Het
Slfn1 T C 11: 83,011,986 (GRCm39) V34A probably benign Het
Syt4 A G 18: 31,574,738 (GRCm39) V293A probably benign Het
Trh T C 6: 92,219,551 (GRCm39) E255G possibly damaging Het
Ube4a G T 9: 44,871,371 (GRCm39) N9K probably damaging Het
Uck1 A T 2: 32,148,089 (GRCm39) probably benign Het
Vmn1r222 A G 13: 23,416,631 (GRCm39) M194T possibly damaging Het
Vmn2r91 T G 17: 18,355,973 (GRCm39) probably null Het
Wbp2 C T 11: 115,970,534 (GRCm39) probably null Het
Zdbf2 A G 1: 63,346,636 (GRCm39) I1672V probably benign Het
Other mutations in Hba-x
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4250:Hba-x UTSW 11 32,228,000 (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'- AAGTGCCATCTCTCCGAATGC -3'
(R):5'- TTCTCATAAACCCACCTTGAAGTTG -3'

Sequencing Primer
(F):5'- AAACCACTACTTTGTTTTCTGTCTGG -3'
(R):5'- TTGAAGTTGACCGGATCCAC -3'
Posted On 2015-02-05