Incidental Mutation 'R3956:Hbq1a'
ID310711
Institutional Source Beutler Lab
Gene Symbol Hbq1a
Ensembl Gene ENSMUSG00000020295
Gene Namehemoglobin, theta 1A
SynonymsA230090E05Rik, Hbq1, LOC380691
MMRRC Submission 040833-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3956 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location32300069-32300873 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 32300214 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020535] [ENSMUST00000093207]
Predicted Effect probably null
Transcript: ENSMUST00000020535
SMART Domains Protein: ENSMUSP00000020535
Gene: ENSMUSG00000020295

DomainStartEndE-ValueType
Pfam:Globin 7 107 6.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093207
SMART Domains Protein: ENSMUSP00000090895
Gene: ENSMUSG00000069917

DomainStartEndE-ValueType
Pfam:Globin 7 107 7.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147010
Meta Mutation Damage Score 0.9373 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: This gene is one of two mouse theta-globin genes found in the alpha-globin gene cluster on chromosome 11. This gene represents the T2 (or 3') theta-globin gene described in PMIDs 18245844 and 11157800, respectively. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik A G 13: 58,384,389 S118P probably damaging Het
9330159F19Rik A G 10: 29,224,809 K393E possibly damaging Het
Aagab A G 9: 63,619,160 E155G probably damaging Het
Abca16 A G 7: 120,527,752 N1221S probably damaging Het
Acad11 A G 9: 104,086,152 probably benign Het
Acsl1 T A 8: 46,534,458 L693Q probably damaging Het
Adam2 G A 14: 66,057,610 S262L probably damaging Het
B3gat1 A G 9: 26,757,028 T305A possibly damaging Het
BC051076 A G 5: 87,964,251 noncoding transcript Het
Ccni A G 5: 93,183,404 L236S probably damaging Het
Cdc45 A G 16: 18,805,430 V119A probably benign Het
Clspn ACGGCGGCGGC A 4: 126,566,437 probably null Het
Creld1 A G 6: 113,492,229 D340G possibly damaging Het
Dnah2 T A 11: 69,484,021 I1417L probably benign Het
Efhc1 A C 1: 20,978,666 K434N probably damaging Het
Evi5l T C 8: 4,191,358 V297A possibly damaging Het
Fam49b T C 15: 63,941,974 Y158C probably damaging Het
Fam58b C A 11: 78,751,023 E214* probably null Het
Fam69b C T 2: 26,635,567 P171L probably benign Het
Fkbp8 T G 8: 70,534,867 S376A probably damaging Het
Gfod1 A T 13: 43,201,062 C146S probably damaging Het
Gm8882 G T 6: 132,361,851 Q135K unknown Het
Gm960 T A 19: 4,692,497 T214S probably benign Het
Greb1 G T 12: 16,682,299 P1554T probably damaging Het
Grip1 A T 10: 119,930,026 I88F probably damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Kmt2e A G 5: 23,496,025 T121A probably benign Het
Lmf1 G A 17: 25,654,471 V317M probably damaging Het
Mfsd2b A T 12: 4,866,848 F194Y probably damaging Het
Mtmr3 A T 11: 4,491,138 V504E probably damaging Het
Neb C T 2: 52,201,963 V5030M possibly damaging Het
Nup210l A T 3: 90,193,054 R1462S possibly damaging Het
Olfr1039 C T 2: 86,131,019 V215I probably benign Het
Olfr1042 A G 2: 86,159,938 V144A probably benign Het
Olfr199 G A 16: 59,216,065 Q183* probably null Het
Pmfbp1 A G 8: 109,530,169 S502G probably benign Het
Ptgir A G 7: 16,906,869 M29V possibly damaging Het
Ralgapa2 C T 2: 146,435,964 V426I probably damaging Het
Rasgrf2 A G 13: 91,982,855 S696P probably damaging Het
Riok3 T A 18: 12,142,974 Y242* probably null Het
Robo2 T G 16: 73,961,867 Y672S probably damaging Het
Rsbn1 A G 3: 103,928,675 H343R probably damaging Het
Sar1a A T 10: 61,686,393 N88I possibly damaging Het
Sgcz A G 8: 37,526,192 probably benign Het
Tbc1d9 C T 8: 83,233,532 T138I probably damaging Het
Tex37 A G 6: 70,913,485 Y108H possibly damaging Het
Tmem131l C A 3: 83,910,419 C1257F probably damaging Het
Tmem136 C A 9: 43,111,513 C182F probably damaging Het
Ttn A G 2: 76,969,249 V429A possibly damaging Het
Umodl1 A G 17: 31,002,863 T1280A probably benign Het
Xpnpep3 A G 15: 81,451,029 probably benign Het
Other mutations in Hbq1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1417:Hbq1a UTSW 11 32300722 missense probably benign 0.08
R3120:Hbq1a UTSW 11 32300472 missense probably damaging 1.00
R3431:Hbq1a UTSW 11 32300715 missense probably benign
R3432:Hbq1a UTSW 11 32300715 missense probably benign
R3953:Hbq1a UTSW 11 32300214 critical splice donor site probably null
R3954:Hbq1a UTSW 11 32300214 critical splice donor site probably null
R6748:Hbq1a UTSW 11 32300169 splice site probably null
Predicted Primers PCR Primer
(F):5'- AAGCTGAACCAGAATCTGTGAAC -3'
(R):5'- ATGGGCTTTAACCTGGCTAGAG -3'

Sequencing Primer
(F):5'- TGTGAACACCTAGGCATCCTG -3'
(R):5'- GCTAGAGCCTGGCCTCAG -3'
Posted On2015-04-29