Incidental Mutation 'IGL00471:Hlx'
ID7306
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hlx
Ensembl Gene ENSMUSG00000039377
Gene NameH2.0-like homeobox
SynonymsHlx1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00471
Quality Score
Status
Chromosome1
Chromosomal Location184727140-184732619 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 184731595 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 183 (F183I)
Ref Sequence ENSEMBL: ENSMUSP00000040505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048572] [ENSMUST00000174257]
Predicted Effect probably damaging
Transcript: ENSMUST00000048572
AA Change: F183I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040505
Gene: ENSMUSG00000039377
AA Change: F183I

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
low complexity region 123 149 N/A INTRINSIC
low complexity region 157 168 N/A INTRINSIC
HOX 271 335 2.32e-22 SMART
low complexity region 353 379 N/A INTRINSIC
low complexity region 405 434 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000174257
AA Change: F2I
SMART Domains Protein: ENSMUSP00000134728
Gene: ENSMUSG00000039377
AA Change: F2I

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
low complexity region 123 149 N/A INTRINSIC
low complexity region 157 168 N/A INTRINSIC
low complexity region 221 271 N/A INTRINSIC
low complexity region 344 357 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disrputions in this gene die as embryos as a result of defective organogenesis and fetal hematopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,509,542 V2793A probably damaging Het
Agbl2 A G 2: 90,801,045 Y249C probably damaging Het
Anks1 T C 17: 28,058,416 S1082P possibly damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
C4b T G 17: 34,734,429 T1027P probably damaging Het
Clec4d A T 6: 123,274,773 I205F probably damaging Het
Cpeb2 A T 5: 43,285,831 Y955F probably damaging Het
Cst13 T A 2: 148,830,304 M133K probably damaging Het
Dnah10 T C 5: 124,794,341 L2418P probably damaging Het
Gli3 T C 13: 15,723,769 probably null Het
Hgfac C A 5: 35,046,526 H463N probably damaging Het
Ighv1-5 T G 12: 114,513,473 I70L probably benign Het
Ltbp2 T C 12: 84,791,064 T1181A probably damaging Het
Morn1 A C 4: 155,092,328 K140Q possibly damaging Het
Nek1 A T 8: 61,043,284 M358L probably benign Het
Pcbd2 C T 13: 55,776,600 probably benign Het
Pramel7 A T 2: 87,491,085 L202Q probably damaging Het
Shq1 A G 6: 100,664,483 S146P probably benign Het
Slc25a21 T C 12: 56,718,137 probably null Het
Slc26a7 A T 4: 14,548,403 probably benign Het
Sspo G A 6: 48,498,213 probably benign Het
Stam2 T C 2: 52,720,935 D25G probably damaging Het
Tbx18 A T 9: 87,705,623 D480E possibly damaging Het
Tmem26 A T 10: 68,778,681 I309F possibly damaging Het
Ube2c A G 2: 164,771,293 T44A probably benign Het
Other mutations in Hlx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Hlx APN 1 184727813 missense probably damaging 1.00
IGL02543:Hlx APN 1 184730751 missense probably damaging 1.00
R0522:Hlx UTSW 1 184731640 missense probably damaging 1.00
R1104:Hlx UTSW 1 184731987 missense probably damaging 0.99
R1157:Hlx UTSW 1 184731987 missense probably damaging 0.99
R1158:Hlx UTSW 1 184731987 missense probably damaging 0.99
R1285:Hlx UTSW 1 184731987 missense probably damaging 0.99
R1286:Hlx UTSW 1 184731987 missense probably damaging 0.99
R1439:Hlx UTSW 1 184731987 missense probably damaging 0.99
R1489:Hlx UTSW 1 184731987 missense probably damaging 0.99
R1606:Hlx UTSW 1 184731987 missense probably damaging 0.99
R1974:Hlx UTSW 1 184731987 missense probably damaging 0.99
R1976:Hlx UTSW 1 184731987 missense probably damaging 0.99
R2161:Hlx UTSW 1 184727641 missense probably benign 0.12
R2162:Hlx UTSW 1 184730692 splice site probably null
R2340:Hlx UTSW 1 184731987 missense probably damaging 0.99
R2341:Hlx UTSW 1 184731987 missense probably damaging 0.99
R3237:Hlx UTSW 1 184731987 missense probably damaging 0.99
R3781:Hlx UTSW 1 184731987 missense probably damaging 0.99
R3782:Hlx UTSW 1 184731987 missense probably damaging 0.99
R5705:Hlx UTSW 1 184730865 missense probably benign 0.40
R5738:Hlx UTSW 1 184731557 critical splice donor site probably null
R6081:Hlx UTSW 1 184727697 missense probably benign
R7323:Hlx UTSW 1 184730796 missense probably benign 0.00
R7373:Hlx UTSW 1 184730865 missense probably benign 0.40
X0018:Hlx UTSW 1 184727732 missense possibly damaging 0.72
Posted On2012-04-20