Incidental Mutation 'R7217:Hoxb4'
ID 561542
Institutional Source Beutler Lab
Gene Symbol Hoxb4
Ensembl Gene ENSMUSG00000038692
Gene Name homeobox B4
Synonyms Hox-2.6
MMRRC Submission 045289-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.852) question?
Stock # R7217 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 96209093-96212464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96209906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 104 (E104G)
Ref Sequence ENSEMBL: ENSMUSP00000048002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049241] [ENSMUST00000093944]
AlphaFold P10284
Predicted Effect probably benign
Transcript: ENSMUST00000049241
AA Change: E104G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000048002
Gene: ENSMUSG00000038692
AA Change: E104G

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 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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 91% (40/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik C A 5: 138,645,188 (GRCm39) H358N probably benign Het
Abcg3 A G 5: 105,087,094 (GRCm39) F543L possibly damaging Het
Asnsd1 T C 1: 53,387,352 (GRCm39) T92A probably damaging Het
Atg2a G T 19: 6,303,471 (GRCm39) probably null Het
Aven T A 2: 112,461,191 (GRCm39) N327K possibly damaging Het
Brd9 T C 13: 74,087,063 (GRCm39) V116A probably damaging Het
Car14 A G 3: 95,806,629 (GRCm39) S250P probably damaging Het
Ccdc138 T C 10: 58,345,422 (GRCm39) I138T probably benign Het
Cmya5 A G 13: 93,226,938 (GRCm39) Y2717H probably damaging Het
Eno1b C A 18: 48,180,746 (GRCm39) T308K probably damaging Het
Epha3 T C 16: 63,372,857 (GRCm39) T949A probably benign Het
Fcrl5 C T 3: 87,351,081 (GRCm39) T197M probably damaging Het
Foxp2 A T 6: 15,416,023 (GRCm39) Q664L unknown Het
Fsip2 A T 2: 82,819,412 (GRCm39) K5048N possibly damaging Het
Gcnt4 T C 13: 97,082,818 (GRCm39) L38P probably damaging Het
Gpr68 A G 12: 100,845,058 (GRCm39) V162A possibly damaging Het
Grin3a A T 4: 49,770,741 (GRCm39) M677K possibly damaging Het
Grm7 A G 6: 111,335,785 (GRCm39) Y732C probably damaging Het
H2-T15 A C 17: 36,367,235 (GRCm39) M329R probably benign Het
Kat7 A G 11: 95,182,390 (GRCm39) S237P possibly damaging Het
Kif13b T C 14: 65,010,517 (GRCm39) V1272A probably damaging Het
Kif20a T A 18: 34,762,613 (GRCm39) H495Q probably benign Het
Lama1 A T 17: 68,071,668 (GRCm39) T852S Het
Mep1b T A 18: 21,226,600 (GRCm39) D487E probably benign Het
Mki67 T C 7: 135,305,911 (GRCm39) T656A probably damaging Het
Mlh3 A G 12: 85,313,481 (GRCm39) W902R probably benign Het
Muc16 A T 9: 18,555,372 (GRCm39) Y3640* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Pkd1l2 A G 8: 117,722,536 (GRCm39) I2424T probably benign Het
Prl8a2 A G 13: 27,534,998 (GRCm39) E91G possibly damaging Het
Prpf18 A G 2: 4,650,435 (GRCm39) V65A probably benign Het
Pxmp2 A G 5: 110,433,771 (GRCm39) V34A probably damaging Het
Ranbp2 T G 10: 58,287,839 (GRCm39) Y36D probably damaging Het
Rbm25 G A 12: 83,710,991 (GRCm39) R368Q unknown Het
Rims2 C A 15: 39,339,885 (GRCm39) L860M probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Scn8a A T 15: 100,868,108 (GRCm39) M318L probably benign Het
Slc35b2 A G 17: 45,875,955 (GRCm39) T55A probably benign Het
Trnp1 T C 4: 133,225,416 (GRCm39) E118G possibly damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wdfy3 A T 5: 102,049,785 (GRCm39) H1680Q probably damaging Het
Zfp131 A G 13: 120,237,377 (GRCm39) I327T probably damaging Het
Zfp729b A G 13: 67,743,367 (GRCm39) V66A probably damaging Het
Other mutations in Hoxb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Hoxb4 APN 11 96,209,726 (GRCm39) missense probably damaging 1.00
IGL02642:Hoxb4 APN 11 96,211,050 (GRCm39) missense probably damaging 1.00
R0586:Hoxb4 UTSW 11 96,209,713 (GRCm39) missense probably damaging 0.99
R1548:Hoxb4 UTSW 11 96,209,725 (GRCm39) nonsense probably null
R1634:Hoxb4 UTSW 11 96,211,099 (GRCm39) unclassified probably benign
R1932:Hoxb4 UTSW 11 96,210,867 (GRCm39) missense probably damaging 1.00
R4571:Hoxb4 UTSW 11 96,209,992 (GRCm39) missense possibly damaging 0.95
R4879:Hoxb4 UTSW 11 96,211,014 (GRCm39) missense probably damaging 1.00
R4930:Hoxb4 UTSW 11 96,209,662 (GRCm39) missense probably damaging 1.00
R5502:Hoxb4 UTSW 11 96,211,057 (GRCm39) missense probably damaging 1.00
R6082:Hoxb4 UTSW 11 96,209,359 (GRCm39) unclassified probably benign
R6375:Hoxb4 UTSW 11 96,211,153 (GRCm39) makesense probably null
R6823:Hoxb4 UTSW 11 96,209,480 (GRCm39) unclassified probably benign
R7256:Hoxb4 UTSW 11 96,210,722 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- CAGAGCGATTACCTACCCAG -3'
(R):5'- GTCCCTTCACTGTAAAGCGC -3'

Sequencing Primer
(F):5'- ACTCGCCCGGGTACTAC -3'
(R):5'- TCACTGTAAAGCGCCGGGG -3'
Posted On 2019-06-26