Incidental Mutation 'IGL02112:Hephl1'
ID 280226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hephl1
Ensembl Gene ENSMUSG00000031936
Gene Name hephaestin-like 1
Synonyms zyklopen, thd, cw, Zp, LOC244698
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02112
Quality Score
Status
Chromosome 9
Chromosomal Location 14963137-15023404 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 14993111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
AlphaFold Q3V1H3
Predicted Effect probably benign
Transcript: ENSMUST00000159985
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
Pfam:Cu-oxidase_3 97 209 2.8e-12 PFAM
Pfam:Cu-oxidase_2 289 365 2.4e-9 PFAM
Pfam:Cu-oxidase_3 452 564 1.2e-9 PFAM
Blast:FA58C 604 703 9e-9 BLAST
Pfam:Cu-oxidase_3 805 908 1.6e-7 PFAM
Pfam:Cu-oxidase_2 946 1067 9e-14 PFAM
transmembrane domain 1115 1137 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,175 (GRCm39) Y490F possibly damaging Het
Appbp2 A T 11: 85,092,446 (GRCm39) H271Q probably benign Het
Arhgap17 A T 7: 122,917,640 (GRCm39) D181E possibly damaging Het
Arhgap25 T A 6: 87,444,919 (GRCm39) Y286F possibly damaging Het
Atf2 T C 2: 73,649,381 (GRCm39) K352R probably damaging Het
Bdp1 G A 13: 100,174,308 (GRCm39) T2076I probably benign Het
C1s2 A G 6: 124,602,267 (GRCm39) V642A probably benign Het
Cldn18 T A 9: 99,580,128 (GRCm39) T170S probably benign Het
Cntnap5c T A 17: 58,620,853 (GRCm39) H977Q probably benign Het
Col15a1 T A 4: 47,253,985 (GRCm39) probably benign Het
Csmd1 A T 8: 16,131,719 (GRCm39) Y1669N probably benign Het
Csmd3 A C 15: 48,177,265 (GRCm39) S424R possibly damaging Het
Cyp4a31 A G 4: 115,428,180 (GRCm39) D306G probably damaging Het
E2f2 A G 4: 135,920,145 (GRCm39) T377A probably benign Het
Edil3 A G 13: 89,328,374 (GRCm39) D276G probably damaging Het
Ei24 A T 9: 36,693,638 (GRCm39) Y305N probably damaging Het
Erbin T C 13: 103,998,844 (GRCm39) N181D probably benign Het
Gli3 A G 13: 15,837,099 (GRCm39) Q494R probably damaging Het
Gm16519 T C 17: 71,236,291 (GRCm39) I80T probably damaging Het
Haus8 T A 8: 71,708,205 (GRCm39) E163V probably damaging Het
Hnrnph3 A G 10: 62,852,184 (GRCm39) probably null Het
Liat1 G T 11: 75,894,214 (GRCm39) C197F probably benign Het
Mast2 A T 4: 116,176,961 (GRCm39) C437S probably damaging Het
Mef2a A C 7: 66,914,620 (GRCm39) S91R probably damaging Het
Mfge8 A T 7: 78,793,088 (GRCm39) V126D probably benign Het
Nrdc A G 4: 108,884,629 (GRCm39) probably benign Het
Or7d10 T A 9: 19,831,821 (GRCm39) N105K possibly damaging Het
Panx2 A G 15: 88,953,772 (GRCm39) T576A probably benign Het
Per3 T C 4: 151,113,640 (GRCm39) Y306C probably benign Het
Ppm1h G A 10: 122,638,305 (GRCm39) G192R possibly damaging Het
Prss22 T C 17: 24,212,945 (GRCm39) E264G probably damaging Het
Rasa3 A G 8: 13,635,042 (GRCm39) probably benign Het
Rpl7a-ps8 C A 7: 19,687,985 (GRCm39) probably benign Het
Rundc1 A G 11: 101,324,425 (GRCm39) D377G probably benign Het
Sh3bp1 T C 15: 78,790,084 (GRCm39) probably null Het
Sobp A G 10: 42,897,873 (GRCm39) S571P probably benign Het
Styxl2 C A 1: 165,927,240 (GRCm39) E791* probably null Het
Syce1 C A 7: 140,359,545 (GRCm39) M114I probably benign Het
Tdrd6 G A 17: 43,940,242 (GRCm39) R269W probably damaging Het
Tmprss13 T C 9: 45,250,702 (GRCm39) S408P probably damaging Het
Tonsl T C 15: 76,517,602 (GRCm39) T706A probably benign Het
Tpcn2 A G 7: 144,810,529 (GRCm39) S603P probably benign Het
Trmt12 A T 15: 58,744,665 (GRCm39) Q21L probably damaging Het
Vmn1r68 C T 7: 10,261,787 (GRCm39) G104S probably damaging Het
Vmn2r82 T C 10: 79,231,833 (GRCm39) W611R probably benign Het
Vmn2r90 C A 17: 17,932,465 (GRCm39) T124K probably damaging Het
Vmn2r99 A G 17: 19,600,494 (GRCm39) E506G probably null Het
Other mutations in Hephl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Hephl1 APN 9 14,978,341 (GRCm39) missense probably benign 0.06
IGL01105:Hephl1 APN 9 15,000,320 (GRCm39) missense possibly damaging 0.95
IGL01731:Hephl1 APN 9 14,981,066 (GRCm39) missense probably damaging 1.00
IGL02010:Hephl1 APN 9 15,001,852 (GRCm39) nonsense probably null
IGL02227:Hephl1 APN 9 14,981,089 (GRCm39) missense probably damaging 1.00
IGL02490:Hephl1 APN 9 14,964,981 (GRCm39) missense probably benign 0.06
IGL02960:Hephl1 APN 9 14,995,615 (GRCm39) missense probably damaging 1.00
IGL03265:Hephl1 APN 9 14,972,255 (GRCm39) missense probably benign 0.14
R0006:Hephl1 UTSW 9 14,988,060 (GRCm39) missense probably benign 0.16
R0006:Hephl1 UTSW 9 14,988,060 (GRCm39) missense probably benign 0.16
R0007:Hephl1 UTSW 9 14,997,471 (GRCm39) missense possibly damaging 0.58
R0092:Hephl1 UTSW 9 15,001,899 (GRCm39) frame shift probably null
R0421:Hephl1 UTSW 9 14,970,456 (GRCm39) missense probably benign 0.05
R0448:Hephl1 UTSW 9 14,988,222 (GRCm39) missense probably damaging 1.00
R0563:Hephl1 UTSW 9 14,993,241 (GRCm39) missense probably damaging 1.00
R0602:Hephl1 UTSW 9 15,000,347 (GRCm39) missense probably damaging 0.99
R0631:Hephl1 UTSW 9 14,995,820 (GRCm39) missense probably benign 0.04
R0747:Hephl1 UTSW 9 14,965,297 (GRCm39) splice site probably benign
R1123:Hephl1 UTSW 9 14,991,436 (GRCm39) missense probably benign 0.00
R1386:Hephl1 UTSW 9 14,988,050 (GRCm39) missense probably benign
R1711:Hephl1 UTSW 9 14,970,542 (GRCm39) missense probably damaging 1.00
R1743:Hephl1 UTSW 9 15,001,364 (GRCm39) missense probably damaging 0.99
R1833:Hephl1 UTSW 9 14,988,224 (GRCm39) missense probably damaging 0.99
R1908:Hephl1 UTSW 9 14,985,420 (GRCm39) nonsense probably null
R1918:Hephl1 UTSW 9 14,988,114 (GRCm39) missense probably benign 0.16
R1938:Hephl1 UTSW 9 14,965,283 (GRCm39) missense possibly damaging 0.88
R1986:Hephl1 UTSW 9 14,965,848 (GRCm39) missense probably damaging 1.00
R3122:Hephl1 UTSW 9 15,000,265 (GRCm39) missense possibly damaging 0.90
R3832:Hephl1 UTSW 9 14,981,044 (GRCm39) missense probably damaging 1.00
R3833:Hephl1 UTSW 9 14,981,044 (GRCm39) missense probably damaging 1.00
R4280:Hephl1 UTSW 9 15,023,330 (GRCm39) missense probably benign 0.05
R4434:Hephl1 UTSW 9 14,988,092 (GRCm39) missense probably damaging 0.99
R4790:Hephl1 UTSW 9 14,970,467 (GRCm39) missense probably damaging 1.00
R4793:Hephl1 UTSW 9 15,009,286 (GRCm39) missense probably benign 0.34
R4960:Hephl1 UTSW 9 14,997,586 (GRCm39) missense probably damaging 1.00
R5125:Hephl1 UTSW 9 14,997,468 (GRCm39) missense probably damaging 0.98
R5152:Hephl1 UTSW 9 14,991,481 (GRCm39) missense probably damaging 1.00
R5178:Hephl1 UTSW 9 14,997,468 (GRCm39) missense probably damaging 0.98
R5288:Hephl1 UTSW 9 14,988,150 (GRCm39) missense possibly damaging 0.83
R5372:Hephl1 UTSW 9 15,009,195 (GRCm39) nonsense probably null
R5377:Hephl1 UTSW 9 14,981,084 (GRCm39) missense probably damaging 1.00
R5788:Hephl1 UTSW 9 14,995,579 (GRCm39) missense possibly damaging 0.93
R5795:Hephl1 UTSW 9 14,981,056 (GRCm39) missense probably damaging 0.99
R6210:Hephl1 UTSW 9 15,001,860 (GRCm39) missense possibly damaging 0.57
R6303:Hephl1 UTSW 9 15,001,448 (GRCm39) missense possibly damaging 0.69
R6394:Hephl1 UTSW 9 14,985,397 (GRCm39) missense probably benign 0.00
R6653:Hephl1 UTSW 9 14,993,260 (GRCm39) missense probably damaging 0.99
R6764:Hephl1 UTSW 9 15,000,217 (GRCm39) missense possibly damaging 0.88
R7114:Hephl1 UTSW 9 14,981,111 (GRCm39) missense probably damaging 0.96
R7143:Hephl1 UTSW 9 14,972,106 (GRCm39) missense possibly damaging 0.80
R7404:Hephl1 UTSW 9 14,981,047 (GRCm39) missense possibly damaging 0.84
R7446:Hephl1 UTSW 9 15,009,347 (GRCm39) missense probably damaging 1.00
R7447:Hephl1 UTSW 9 15,009,178 (GRCm39) critical splice donor site probably null
R7715:Hephl1 UTSW 9 14,972,081 (GRCm39) missense probably benign 0.36
R8013:Hephl1 UTSW 9 14,965,905 (GRCm39) missense possibly damaging 0.78
R8156:Hephl1 UTSW 9 14,972,210 (GRCm39) missense possibly damaging 0.77
R8755:Hephl1 UTSW 9 15,023,280 (GRCm39) missense probably damaging 1.00
R8755:Hephl1 UTSW 9 14,985,563 (GRCm39) missense probably benign
R8777:Hephl1 UTSW 9 14,972,090 (GRCm39) missense probably benign 0.24
R8777-TAIL:Hephl1 UTSW 9 14,972,090 (GRCm39) missense probably benign 0.24
R9090:Hephl1 UTSW 9 14,988,236 (GRCm39) missense probably damaging 1.00
R9155:Hephl1 UTSW 9 15,000,375 (GRCm39) missense probably damaging 1.00
R9271:Hephl1 UTSW 9 14,988,236 (GRCm39) missense probably damaging 1.00
R9287:Hephl1 UTSW 9 14,995,775 (GRCm39) missense probably benign 0.01
R9487:Hephl1 UTSW 9 14,995,830 (GRCm39) missense possibly damaging 0.84
X0026:Hephl1 UTSW 9 14,995,524 (GRCm39) critical splice donor site probably null
X0066:Hephl1 UTSW 9 14,964,964 (GRCm39) missense probably benign 0.00
Z1088:Hephl1 UTSW 9 14,965,017 (GRCm39) missense probably damaging 1.00
Z1177:Hephl1 UTSW 9 15,001,350 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16