Incidental Mutation 'IGL02224:Hoxb8'
ID285273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb8
Ensembl Gene ENSMUSG00000056648
Gene Namehomeobox B8
SynonymsHox-2.4
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.717) question?
Stock #IGL02224
Quality Score
Status
Chromosome11
Chromosomal Location96281905-96285315 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 96283155 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 65 (S65P)
Ref Sequence ENSEMBL: ENSMUSP00000128136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049352] [ENSMUST00000052650] [ENSMUST00000125410] [ENSMUST00000168043]
Predicted Effect probably benign
Transcript: ENSMUST00000049352
SMART Domains Protein: ENSMUSP00000040121
Gene: ENSMUSG00000038721

DomainStartEndE-ValueType
low complexity region 60 72 N/A INTRINSIC
HOX 137 199 4.53e-25 SMART
low complexity region 209 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052650
AA Change: S65P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000052496
Gene: ENSMUSG00000056648
AA Change: S65P

DomainStartEndE-ValueType
low complexity region 112 126 N/A INTRINSIC
HOX 146 208 2.87e-27 SMART
low complexity region 216 226 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125410
AA Change: S65P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120351
Gene: ENSMUSG00000056648
AA Change: S65P

DomainStartEndE-ValueType
low complexity region 112 126 N/A INTRINSIC
HOX 145 191 6.33e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168043
AA Change: S65P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000128136
Gene: ENSMUSG00000056648
AA Change: S65P

DomainStartEndE-ValueType
low complexity region 112 126 N/A INTRINSIC
HOX 146 208 2.87e-27 SMART
low complexity region 216 226 N/A INTRINSIC
Coding Region Coverage
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. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for targeted null mutations exhibit delayed preweaning growth, degeneration of the second spinal ganglion, axial skeletal defects, impaired clasping, an altered gait, and excessive grooming. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,279,290 T23S probably damaging Het
Alpk3 G A 7: 81,076,868 probably benign Het
Atp8b3 A G 10: 80,525,976 probably benign Het
Atr C T 9: 95,878,629 R1051C probably damaging Het
B4galt2 T C 4: 117,876,913 D309G probably benign Het
C130026L21Rik A G 5: 111,582,425 noncoding transcript Het
Cadm3 A G 1: 173,338,061 I344T possibly damaging Het
Cd101 T C 3: 101,017,002 T370A probably benign Het
Col6a5 A T 9: 105,864,335 S2462T probably damaging Het
Csf3r A T 4: 126,043,539 N739Y probably benign Het
Ensa T C 3: 95,628,679 S108P probably benign Het
Fancd2 T A 6: 113,568,320 probably null Het
Fbp1 T A 13: 62,888,007 T13S probably damaging Het
Flrt2 C A 12: 95,780,028 T380K possibly damaging Het
Gpatch11 T C 17: 78,841,093 probably benign Het
Hagh A G 17: 24,852,887 D29G probably damaging Het
Hmmr T C 11: 40,710,004 Q513R unknown Het
Il4ra T C 7: 125,570,099 probably benign Het
Lbp A G 2: 158,306,749 N27S probably damaging Het
Msh4 G A 3: 153,890,185 T76I possibly damaging Het
Nfat5 T C 8: 107,344,815 V281A probably benign Het
Olfr1115 C T 2: 87,252,477 S180F probably benign Het
Olfr1140 T A 2: 87,746,413 C72* probably null Het
Olfr1181 C T 2: 88,423,708 probably null Het
Olfr1459 T A 19: 13,145,756 K301M probably damaging Het
Olfr272 A T 4: 52,911,392 V134D probably damaging Het
Phf11b A T 14: 59,326,066 probably benign Het
Pik3c2a A G 7: 116,363,340 probably benign Het
Prdx1 T A 4: 116,691,867 F66L probably damaging Het
Prss39 A G 1: 34,499,378 H108R probably damaging Het
Spta1 C A 1: 174,217,689 probably benign Het
Tmem87b A G 2: 128,834,207 I297V possibly damaging Het
Vmn1r191 T C 13: 22,178,898 R229G probably damaging Het
Vmn2r113 A T 17: 22,955,986 R524* probably null Het
Washc2 T A 6: 116,220,569 D254E possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp773 T C 7: 7,132,976 H207R probably benign Het
Other mutations in Hoxb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Hoxb8 APN 11 96284267 missense possibly damaging 0.77
IGL01921:Hoxb8 APN 11 96284355 missense probably damaging 1.00
R0398:Hoxb8 UTSW 11 96283111 missense probably damaging 1.00
R4690:Hoxb8 UTSW 11 96284460 missense probably benign 0.34
R8887:Hoxb8 UTSW 11 96284397 missense probably damaging 0.96
Posted On2015-04-16