Incidental Mutation 'R6375:Hoxb4'
ID 514926
Institutional Source Beutler Lab
Gene Symbol Hoxb4
Ensembl Gene ENSMUSG00000038692
Gene Name homeobox B4
Synonyms Hox-2.6
MMRRC Submission 044525-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R6375 (G1)
Quality Score 109.008
Status Validated
Chromosome 11
Chromosomal Location 96209093-96212464 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 96211153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 251 (*251W)
Ref Sequence ENSEMBL: ENSMUSP00000048002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049241] [ENSMUST00000093944]
AlphaFold P10284
Predicted Effect probably null
Transcript: ENSMUST00000049241
AA Change: *251W
SMART Domains Protein: ENSMUSP00000048002
Gene: ENSMUSG00000038692
AA Change: *251W

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (45/45)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,536 (GRCm39) I797N possibly damaging Het
Actbl2 A G 13: 111,392,478 (GRCm39) E271G probably damaging Het
Aplp2 T C 9: 31,069,084 (GRCm39) N526D probably benign Het
Cacna1e A C 1: 154,355,051 (GRCm39) N389K probably damaging Het
Ccdc18 T C 5: 108,322,820 (GRCm39) I640T possibly damaging Het
Ccdc39 T A 3: 33,868,516 (GRCm39) T857S probably benign Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Efhc1 T A 1: 21,043,164 (GRCm39) M361K probably benign Het
Eml5 T C 12: 98,765,127 (GRCm39) Het
Fgfr2 C A 7: 129,769,475 (GRCm39) L637F probably damaging Het
Fmo9 A G 1: 166,492,164 (GRCm39) probably null Het
Gm4302 A G 10: 100,177,258 (GRCm39) T181A probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Il1r1 T A 1: 40,334,050 (GRCm39) Y207N probably damaging Het
Kcnc2 C T 10: 112,299,094 (GRCm39) T622M possibly damaging Het
Kcnk9 C T 15: 72,418,092 (GRCm39) A13T probably benign Het
Kdm4c C T 4: 74,248,952 (GRCm39) P69S probably damaging Het
Kmt2e T C 5: 23,704,517 (GRCm39) S1237P probably benign Het
Lrrc37a G A 11: 103,391,915 (GRCm39) T1170I probably benign Het
Lyn T A 4: 3,745,527 (GRCm39) F109I probably damaging Het
Lynx1 T C 15: 74,623,168 (GRCm39) Y88C probably damaging Het
Mon1b T A 8: 114,364,709 (GRCm39) I162N probably damaging Het
Muc4 A G 16: 32,555,061 (GRCm39) probably benign Het
Nbn T A 4: 15,979,327 (GRCm39) F437L probably benign Het
Neil3 T C 8: 54,040,311 (GRCm39) K564E possibly damaging Het
Nfe2l1 A T 11: 96,710,877 (GRCm39) S293T probably damaging Het
Or10al5 T A 17: 38,062,990 (GRCm39) S82T probably benign Het
Or14c39 C T 7: 86,344,267 (GRCm39) A201V probably benign Het
Or2ag2 C A 7: 106,485,221 (GRCm39) A268S probably benign Het
Or51g2 T C 7: 102,622,960 (GRCm39) T80A probably damaging Het
Pcdhb22 A T 18: 37,651,357 (GRCm39) probably benign Het
Pcdhgb6 A G 18: 37,875,678 (GRCm39) N129D probably damaging Het
Pias2 C T 18: 77,240,366 (GRCm39) T574M possibly damaging Het
Plec G A 15: 76,061,840 (GRCm39) T2564I probably damaging Het
Qrich2 A G 11: 116,349,054 (GRCm39) probably benign Het
Scgb1b12 T A 7: 32,033,884 (GRCm39) V48E probably damaging Het
Scn5a A T 9: 119,372,422 (GRCm39) L224Q probably damaging Het
Snx3 T A 10: 42,410,727 (GRCm39) Y132* probably null Het
Stk39 T A 2: 68,222,582 (GRCm39) I161F probably benign Het
Tcaf2 A C 6: 42,603,112 (GRCm39) L816R probably damaging Het
Thap4 C A 1: 93,652,878 (GRCm39) probably null Het
Tmc5 T A 7: 118,256,037 (GRCm39) V704E probably damaging Het
Tmem39a A G 16: 38,405,599 (GRCm39) T59A probably benign Het
Tshz2 A G 2: 169,727,939 (GRCm39) N376S probably damaging Het
Vmn1r60 T C 7: 5,548,017 (GRCm39) N28D probably damaging Het
Zfp637 C T 6: 117,822,285 (GRCm39) R138W 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
R6823:Hoxb4 UTSW 11 96,209,480 (GRCm39) unclassified probably benign
R7217:Hoxb4 UTSW 11 96,209,906 (GRCm39) missense probably benign 0.02
R7256:Hoxb4 UTSW 11 96,210,722 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ACTACAATCGCTACCTGACG -3'
(R):5'- ACTCGAATCTTGTCTCCGAAG -3'

Sequencing Primer
(F):5'- CGGAGGGTGGAGATCGC -3'
(R):5'- AAGGACTTTACCCGGCTCC -3'
Posted On 2018-05-04