Incidental Mutation 'R6082:Hoxb4'
ID482249
Institutional Source Beutler Lab
Gene Symbol Hoxb4
Ensembl Gene ENSMUSG00000038692
Gene Namehomeobox B4
SynonymsHox-2.6
MMRRC Submission 044241-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.847) question?
Stock #R6082 (G1)
Quality Score112.008
Status Not validated
Chromosome11
Chromosomal Location96318267-96321638 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 96318533 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049241] [ENSMUST00000093944]
Predicted Effect probably benign
Transcript: ENSMUST00000049241
SMART Domains Protein: ENSMUSP00000048002
Gene: ENSMUSG00000038692

DomainStartEndE-ValueType
low complexity region 71 87 N/A INTRINSIC
low complexity region 113 120 N/A INTRINSIC
HOX 161 223 2.83e-26 SMART
low complexity region 230 249 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083585
Predicted Effect probably benign
Transcript: ENSMUST00000093944
SMART Domains Protein: ENSMUSP00000091476
Gene: ENSMUSG00000048763

DomainStartEndE-ValueType
low complexity region 76 121 N/A INTRINSIC
low complexity region 154 181 N/A INTRINSIC
HOX 191 253 5.44e-28 SMART
low complexity region 256 274 N/A INTRINSIC
Pfam:DUF4074 368 431 1.9e-37 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Intracellular or ectopic expression of this protein expands hematopoietic stem and progenitor cells in vivo and in vitro, making it a potential candidate for therapeutic stem cell expansion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene causes cervical vertebral transformation and may lead to pre- or neonatal lethality, sternal defects, impaired ventral body wall formation, diaphragm hernias and heart anomalies. Homozygotes for a null allele show a proliferation defect in hematopoietic stem cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,972,511 M615V probably benign Het
A830018L16Rik T C 1: 11,798,528 I344T probably benign Het
Adamts19 G A 18: 58,968,774 A639T probably benign Het
Adamts9 T C 6: 92,889,949 D122G probably damaging Het
Bin2 A G 15: 100,645,148 S358P possibly damaging Het
Bora A T 14: 99,062,294 Q234L possibly damaging Het
Btaf1 C T 19: 36,983,542 R772C probably damaging Het
Cenpf T C 1: 189,658,104 E1177G probably benign Het
Clec4b2 A T 6: 123,204,141 probably null Het
Dedd2 G A 7: 25,211,290 P154S probably benign Het
Dennd5b A G 6: 149,068,695 S87P probably damaging Het
Dhx8 C T 11: 101,764,313 R1050W probably damaging Het
Eif3a T C 19: 60,772,130 K682R possibly damaging Het
Eif4e2 G T 1: 87,226,234 probably null Het
Ephb1 T C 9: 101,971,104 D665G probably damaging Het
Gbp7 G A 3: 142,545,936 V515M probably benign Het
Hnrnpdl C T 5: 100,036,481 G398S probably null Het
Hook3 C A 8: 26,110,785 A32S probably benign Het
Idi1 T A 13: 8,890,470 Y229* probably null Het
Lpl A T 8: 68,896,649 I276F probably damaging Het
Ltbp4 T C 7: 27,335,680 probably benign Het
Mphosph8 A G 14: 56,668,541 I64V probably damaging Het
Mroh1 A G 15: 76,430,223 D700G probably benign Het
Myt1l G A 12: 29,832,332 G509R unknown Het
Myt1l T C 12: 29,842,519 Y52H probably damaging Het
Nlrp9a T A 7: 26,567,977 D777E probably benign Het
Nudt4 A G 10: 95,551,456 I82T probably benign Het
Nwd2 T C 5: 63,805,031 C653R possibly damaging Het
Obscn A G 11: 58,999,567 Y7380H unknown Het
Olfr1045 A C 2: 86,198,317 V145G probably damaging Het
Olfr281 C T 15: 98,456,766 A152V probably damaging Het
Olfr46 A G 7: 140,610,681 T172A probably benign Het
Olfr918 C A 9: 38,672,570 R291S probably damaging Het
Ptk2 A T 15: 73,276,865 M409K probably damaging Het
Ptpn11 T C 5: 121,154,526 T253A probably benign Het
Rabl6 C T 2: 25,583,825 probably benign Het
Rnf14 T C 18: 38,301,670 S57P possibly damaging Het
Scnm1 T C 3: 95,130,285 I157V probably benign Het
Slco1b2 A C 6: 141,663,670 I269L probably benign Het
Smchd1 A G 17: 71,349,719 Y1918H probably benign Het
Spag17 A T 3: 100,124,185 I2255F possibly damaging Het
Tnnt2 A G 1: 135,849,434 M199V probably benign Het
Tymp GC GCC 15: 89,374,364 probably null Het
Vmn2r73 T A 7: 85,858,221 I628L probably benign Het
Zc2hc1b C A 10: 13,171,311 E19* probably null Het
Other mutations in Hoxb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Hoxb4 APN 11 96318900 missense probably damaging 1.00
IGL02642:Hoxb4 APN 11 96320224 missense probably damaging 1.00
R0586:Hoxb4 UTSW 11 96318887 missense probably damaging 0.99
R1548:Hoxb4 UTSW 11 96318899 nonsense probably null
R1634:Hoxb4 UTSW 11 96320273 unclassified probably benign
R1932:Hoxb4 UTSW 11 96320041 missense probably damaging 1.00
R4571:Hoxb4 UTSW 11 96319166 missense possibly damaging 0.95
R4879:Hoxb4 UTSW 11 96320188 missense probably damaging 1.00
R4930:Hoxb4 UTSW 11 96318836 missense probably damaging 1.00
R5502:Hoxb4 UTSW 11 96320231 missense probably damaging 1.00
R6375:Hoxb4 UTSW 11 96320327 makesense probably null
R6823:Hoxb4 UTSW 11 96318654 unclassified probably benign
R7217:Hoxb4 UTSW 11 96319080 missense probably benign 0.02
R7256:Hoxb4 UTSW 11 96319896 splice site probably null
Predicted Primers
Posted On2017-07-14