Incidental Mutation 'IGL02112:Hephl1'
ID280226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hephl1
Ensembl Gene ENSMUSG00000031936
Gene Namehephaestin-like 1
SynonymsLOC244698, zyklopen, Zp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL02112
Quality Score
Status
Chromosome9
Chromosomal Location15051841-15112108 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 15081815 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
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
1700016K19Rik G T 11: 76,003,388 C197F probably benign Het
Adam34 T A 8: 43,651,138 Y490F possibly damaging Het
Appbp2 A T 11: 85,201,620 H271Q probably benign Het
Arhgap17 A T 7: 123,318,417 D181E possibly damaging Het
Arhgap25 T A 6: 87,467,937 Y286F possibly damaging Het
Atf2 T C 2: 73,819,037 K352R probably damaging Het
Bdp1 G A 13: 100,037,800 T2076I probably benign Het
C1s2 A G 6: 124,625,308 V642A probably benign Het
Cldn18 T A 9: 99,698,075 T170S probably benign Het
Cntnap5c T A 17: 58,313,858 H977Q probably benign Het
Col15a1 T A 4: 47,253,985 probably benign Het
Csmd1 A T 8: 16,081,705 Y1669N probably benign Het
Csmd3 A C 15: 48,313,869 S424R possibly damaging Het
Cyp4a31 A G 4: 115,570,983 D306G probably damaging Het
Dusp27 C A 1: 166,099,671 E791* probably null Het
E2f2 A G 4: 136,192,834 T377A probably benign Het
Edil3 A G 13: 89,180,255 D276G probably damaging Het
Ei24 A T 9: 36,782,342 Y305N probably damaging Het
Erbin T C 13: 103,862,336 N181D probably benign Het
Gli3 A G 13: 15,662,514 Q494R probably damaging Het
Gm16519 T C 17: 70,929,296 I80T probably damaging Het
Haus8 T A 8: 71,255,561 E163V probably damaging Het
Hnrnph3 A G 10: 63,016,405 probably null Het
Mast2 A T 4: 116,319,764 C437S probably damaging Het
Mef2a A C 7: 67,264,872 S91R probably damaging Het
Mfge8 A T 7: 79,143,340 V126D probably benign Het
Nrd1 A G 4: 109,027,432 probably benign Het
Olfr77 T A 9: 19,920,525 N105K possibly damaging Het
Panx2 A G 15: 89,069,569 T576A probably benign Het
Per3 T C 4: 151,029,183 Y306C probably benign Het
Ppm1h G A 10: 122,802,400 G192R possibly damaging Het
Prss22 T C 17: 23,993,971 E264G probably damaging Het
Rasa3 A G 8: 13,585,042 probably benign Het
Rpl7a-ps8 C A 7: 19,954,060 probably benign Het
Rundc1 A G 11: 101,433,599 D377G probably benign Het
Sh3bp1 T C 15: 78,905,884 probably null Het
Sobp A G 10: 43,021,877 S571P probably benign Het
Syce1 C A 7: 140,779,632 M114I probably benign Het
Tdrd6 G A 17: 43,629,351 R269W probably damaging Het
Tmprss13 T C 9: 45,339,404 S408P probably damaging Het
Tonsl T C 15: 76,633,402 T706A probably benign Het
Tpcn2 A G 7: 145,256,792 S603P probably benign Het
Trmt12 A T 15: 58,872,816 Q21L probably damaging Het
Vmn1r68 C T 7: 10,527,860 G104S probably damaging Het
Vmn2r82 T C 10: 79,395,999 W611R probably benign Het
Vmn2r90 C A 17: 17,712,203 T124K probably damaging Het
Vmn2r99 A G 17: 19,380,232 E506G probably null Het
Other mutations in Hephl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Hephl1 APN 9 15067045 missense probably benign 0.06
IGL01105:Hephl1 APN 9 15089024 missense possibly damaging 0.95
IGL01731:Hephl1 APN 9 15069770 missense probably damaging 1.00
IGL02010:Hephl1 APN 9 15090556 nonsense probably null
IGL02227:Hephl1 APN 9 15069793 missense probably damaging 1.00
IGL02490:Hephl1 APN 9 15053685 missense probably benign 0.06
IGL02960:Hephl1 APN 9 15084319 missense probably damaging 1.00
IGL03265:Hephl1 APN 9 15060959 missense probably benign 0.14
R0006:Hephl1 UTSW 9 15076764 missense probably benign 0.16
R0006:Hephl1 UTSW 9 15076764 missense probably benign 0.16
R0007:Hephl1 UTSW 9 15086175 missense possibly damaging 0.58
R0092:Hephl1 UTSW 9 15090603 frame shift probably null
R0421:Hephl1 UTSW 9 15059160 missense probably benign 0.05
R0448:Hephl1 UTSW 9 15076926 missense probably damaging 1.00
R0563:Hephl1 UTSW 9 15081945 missense probably damaging 1.00
R0602:Hephl1 UTSW 9 15089051 missense probably damaging 0.99
R0631:Hephl1 UTSW 9 15084524 missense probably benign 0.04
R0747:Hephl1 UTSW 9 15054001 splice site probably benign
R1123:Hephl1 UTSW 9 15080140 missense probably benign 0.00
R1386:Hephl1 UTSW 9 15076754 missense probably benign
R1711:Hephl1 UTSW 9 15059246 missense probably damaging 1.00
R1743:Hephl1 UTSW 9 15090068 missense probably damaging 0.99
R1833:Hephl1 UTSW 9 15076928 missense probably damaging 0.99
R1908:Hephl1 UTSW 9 15074124 nonsense probably null
R1918:Hephl1 UTSW 9 15076818 missense probably benign 0.16
R1938:Hephl1 UTSW 9 15053987 missense possibly damaging 0.88
R1986:Hephl1 UTSW 9 15054552 missense probably damaging 1.00
R3122:Hephl1 UTSW 9 15088969 missense possibly damaging 0.90
R3832:Hephl1 UTSW 9 15069748 missense probably damaging 1.00
R3833:Hephl1 UTSW 9 15069748 missense probably damaging 1.00
R4280:Hephl1 UTSW 9 15112034 missense probably benign 0.05
R4434:Hephl1 UTSW 9 15076796 missense probably damaging 0.99
R4790:Hephl1 UTSW 9 15059171 missense probably damaging 1.00
R4793:Hephl1 UTSW 9 15097990 missense probably benign 0.34
R4960:Hephl1 UTSW 9 15086290 missense probably damaging 1.00
R5125:Hephl1 UTSW 9 15086172 missense probably damaging 0.98
R5152:Hephl1 UTSW 9 15080185 missense probably damaging 1.00
R5178:Hephl1 UTSW 9 15086172 missense probably damaging 0.98
R5288:Hephl1 UTSW 9 15076854 missense possibly damaging 0.83
R5372:Hephl1 UTSW 9 15097899 nonsense probably null
R5377:Hephl1 UTSW 9 15069788 missense probably damaging 1.00
R5788:Hephl1 UTSW 9 15084283 missense possibly damaging 0.93
R5795:Hephl1 UTSW 9 15069760 missense probably damaging 0.99
R6210:Hephl1 UTSW 9 15090564 missense possibly damaging 0.57
R6303:Hephl1 UTSW 9 15090152 missense possibly damaging 0.69
R6394:Hephl1 UTSW 9 15074101 missense probably benign 0.00
R6653:Hephl1 UTSW 9 15081964 missense probably damaging 0.99
R6764:Hephl1 UTSW 9 15088921 missense possibly damaging 0.88
R7114:Hephl1 UTSW 9 15069815 missense probably damaging 0.96
R7143:Hephl1 UTSW 9 15060810 missense possibly damaging 0.80
R7404:Hephl1 UTSW 9 15069751 missense possibly damaging 0.84
R7446:Hephl1 UTSW 9 15098051 missense probably damaging 1.00
R7447:Hephl1 UTSW 9 15097882 critical splice donor site probably null
X0026:Hephl1 UTSW 9 15084228 critical splice donor site probably null
X0066:Hephl1 UTSW 9 15053668 missense probably benign 0.00
Z1088:Hephl1 UTSW 9 15053721 missense probably damaging 1.00
Posted On2015-04-16