Incidental Mutation 'R1974:Hlx'
ID 221344
Institutional Source Beutler Lab
Gene Symbol Hlx
Ensembl Gene ENSMUSG00000039377
Gene Name H2.0-like homeobox
Synonyms Hlx1
MMRRC Submission 039987-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1974 (G1)
Quality Score 180
Status Not validated
Chromosome 1
Chromosomal Location 184459340-184464690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 184464184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 52 (A52D)
Ref Sequence ENSEMBL: ENSMUSP00000040505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048572] [ENSMUST00000174257]
AlphaFold Q61670
Predicted Effect probably damaging
Transcript: ENSMUST00000048572
AA Change: A52D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040505
Gene: ENSMUSG00000039377
AA Change: A52D

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 probably benign
Transcript: ENSMUST00000174257
SMART Domains Protein: ENSMUSP00000134728
Gene: ENSMUSG00000039377

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192139
Meta Mutation Damage Score 0.0763 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,028 (GRCm39) L739Q probably damaging Het
4933436I01Rik A T X: 66,963,655 (GRCm39) Y401* probably null Het
Abcg3 A G 5: 105,111,504 (GRCm39) V321A probably benign Het
Acad10 C A 5: 121,764,248 (GRCm39) V894L possibly damaging Het
Adam9 A G 8: 25,482,240 (GRCm39) I255T probably damaging Het
Ago3 T C 4: 126,240,544 (GRCm39) Y785C probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Akap4 A G X: 6,943,595 (GRCm39) S633G probably benign Het
Alox15 T A 11: 70,240,799 (GRCm39) T194S probably benign Het
Amh T C 10: 80,642,250 (GRCm39) S207P probably benign Het
Apc T A 18: 34,433,057 (GRCm39) C415S possibly damaging Het
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Atp5mf A T 5: 145,121,389 (GRCm39) L64Q probably damaging Het
Barhl2 C G 5: 106,605,179 (GRCm39) E177Q probably benign Het
C1qtnf5 T C 9: 44,020,072 (GRCm39) V232A probably damaging Het
Calr T C 8: 85,570,786 (GRCm39) I290V probably benign Het
Cdh19 G C 1: 110,817,889 (GRCm39) Q618E possibly damaging Het
Celsr2 G T 3: 108,321,530 (GRCm39) D427E probably damaging Het
Cep250 T C 2: 155,831,424 (GRCm39) S1294P probably damaging Het
Chrna7 T A 7: 62,749,034 (GRCm39) T483S probably damaging Het
Clmn A T 12: 104,758,121 (GRCm39) W132R probably damaging Het
Cpsf2 G A 12: 101,956,306 (GRCm39) D370N probably benign Het
Crnn T C 3: 93,056,594 (GRCm39) V460A probably benign Het
Daam1 T A 12: 72,035,703 (GRCm39) I957N probably damaging Het
Defb9 T C 8: 22,371,905 (GRCm39) K36R probably benign Het
Dock10 T A 1: 80,488,143 (GRCm39) I2007F possibly damaging Het
Dpm1 A T 2: 168,059,667 (GRCm39) V143D probably damaging Het
Dync1h1 T C 12: 110,592,166 (GRCm39) V1110A possibly damaging Het
Erlec1 T G 11: 30,889,604 (GRCm39) K373N possibly damaging Het
Fbxo40 C T 16: 36,790,303 (GRCm39) G269E probably benign Het
Fbxw7 T A 3: 84,862,242 (GRCm39) C70S possibly damaging Het
Fhip2a T C 19: 57,373,809 (GRCm39) F690L probably damaging Het
Fnbp1 G T 2: 30,943,059 (GRCm39) R280S probably null Het
Gapvd1 G A 2: 34,590,853 (GRCm39) R940C probably damaging Het
Gfod2 T C 8: 106,444,142 (GRCm39) K134E possibly damaging Het
Gpi1 A T 7: 33,920,228 (GRCm39) probably null Het
Grik2 A T 10: 49,008,923 (GRCm39) N721K possibly damaging Het
Gsn G T 2: 35,191,483 (GRCm39) G455V probably damaging Het
Hpse A G 5: 100,840,104 (GRCm39) S338P probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Inf2 A G 12: 112,574,771 (GRCm39) T781A unknown Het
Iscu A G 5: 113,915,079 (GRCm39) probably benign Het
Kcna4 G A 2: 107,126,565 (GRCm39) G433D possibly damaging Het
Kir3dl2 T A X: 135,357,024 (GRCm39) N146I probably benign Het
Klrg1 T A 6: 122,259,721 (GRCm39) Q17L possibly damaging Het
Krt82 T G 15: 101,453,597 (GRCm39) Q263P probably benign Het
Mfrp T C 9: 44,017,669 (GRCm39) C554R probably damaging Het
Minar1 T G 9: 89,483,256 (GRCm39) T714P probably damaging Het
Mst1r T C 9: 107,791,962 (GRCm39) Y833H probably damaging Het
Mst1r T A 9: 107,793,132 (GRCm39) probably null Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nipal4 T C 11: 46,042,210 (GRCm39) N157S probably damaging Het
Notch2 G A 3: 97,980,071 (GRCm39) G195D probably damaging Het
Nrcam A T 12: 44,610,776 (GRCm39) H492L probably benign Het
Or10aa1 A T 1: 173,870,154 (GRCm39) I213F probably damaging Het
Or4p21 A T 2: 88,276,853 (GRCm39) I143N probably damaging Het
Papln G A 12: 83,828,811 (GRCm39) R817H probably damaging Het
Pcnx2 T C 8: 126,614,110 (GRCm39) E447G probably benign Het
Pdp2 T C 8: 105,320,538 (GRCm39) V129A probably benign Het
Plch2 A G 4: 155,069,410 (GRCm39) F1072S possibly damaging Het
Prag1 T A 8: 36,570,081 (GRCm39) D221E probably damaging Het
Prkg1 T C 19: 31,563,095 (GRCm39) D102G probably damaging Het
Psme4 T A 11: 30,769,011 (GRCm39) D662E probably benign Het
Ptprn T C 1: 75,231,464 (GRCm39) probably null Het
Ptprz1 A G 6: 22,986,310 (GRCm39) D370G probably damaging Het
Qser1 A G 2: 104,590,886 (GRCm39) S1637P probably damaging Het
Sema6a T A 18: 47,403,696 (GRCm39) H642L probably benign Het
Slc30a5 A T 13: 100,950,461 (GRCm39) F209I probably benign Het
Slc4a3 G T 1: 75,528,835 (GRCm39) E508* probably null Het
Stpg2 C T 3: 139,014,944 (GRCm39) R370* probably null Het
Tas2r113 T A 6: 132,870,796 (GRCm39) F275I probably benign Het
Tmem132d T G 5: 128,346,263 (GRCm39) K86N probably damaging Het
Tpgs2 A T 18: 25,273,593 (GRCm39) F189L probably damaging Het
Trmt6 A G 2: 132,652,968 (GRCm39) S104P probably damaging Het
Trpv3 T C 11: 73,174,514 (GRCm39) S294P probably damaging Het
Ugt2b36 A G 5: 87,228,727 (GRCm39) probably null Het
Vmn1r170 A T 7: 23,305,906 (GRCm39) M103L probably benign Het
Vmn2r107 T A 17: 20,575,879 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign Het
Other mutations in Hlx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Hlx APN 1 184,463,792 (GRCm39) missense probably damaging 1.00
IGL01074:Hlx APN 1 184,460,010 (GRCm39) missense probably damaging 1.00
IGL02543:Hlx APN 1 184,462,948 (GRCm39) missense probably damaging 1.00
R0522:Hlx UTSW 1 184,463,837 (GRCm39) missense probably damaging 1.00
R1104:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R1157:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R1158:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R1285:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R1286:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R1439:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R1489:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R1606:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R1976:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R2161:Hlx UTSW 1 184,459,838 (GRCm39) missense probably benign 0.12
R2162:Hlx UTSW 1 184,462,889 (GRCm39) splice site probably null
R2340:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R2341:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R3237:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R3781:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R3782:Hlx UTSW 1 184,464,184 (GRCm39) missense probably damaging 0.99
R5705:Hlx UTSW 1 184,463,062 (GRCm39) missense probably benign 0.40
R5738:Hlx UTSW 1 184,463,754 (GRCm39) critical splice donor site probably null
R6081:Hlx UTSW 1 184,459,894 (GRCm39) missense probably benign
R7323:Hlx UTSW 1 184,462,993 (GRCm39) missense probably benign 0.00
R7373:Hlx UTSW 1 184,463,062 (GRCm39) missense probably benign 0.40
R7908:Hlx UTSW 1 184,459,773 (GRCm39) missense probably benign
R7938:Hlx UTSW 1 184,464,125 (GRCm39) missense probably benign 0.00
R7985:Hlx UTSW 1 184,464,223 (GRCm39) missense probably benign 0.00
R8303:Hlx UTSW 1 184,459,905 (GRCm39) missense probably damaging 1.00
X0018:Hlx UTSW 1 184,459,929 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TCCGCAGACAAAATTCGATCG -3'
(R):5'- CTTTCAAGCCAAGCCAGGGG -3'

Sequencing Primer
(F):5'- CGATCGATACCAAATTTGAGGTC -3'
(R):5'- CGAAGAACCGAAAGCAGCTCG -3'
Posted On 2014-08-25