Incidental Mutation 'IGL01105:Hephl1'
ID 51928
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 # IGL01105
Quality Score
Status
Chromosome 9
Chromosomal Location 14963137-15023404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15000320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 311 (T311A)
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
AlphaFold Q3V1H3
Predicted Effect possibly damaging
Transcript: ENSMUST00000159985
AA Change: T311A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: T311A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,862,885 (GRCm39) V302E probably damaging Het
Ahcy T C 2: 154,909,281 (GRCm39) D86G probably benign Het
Antxr2 G T 5: 98,152,802 (GRCm39) probably benign Het
Cadps2 A G 6: 23,321,699 (GRCm39) probably benign Het
Cdhr4 C T 9: 107,873,060 (GRCm39) probably benign Het
Cdkn2c C T 4: 109,518,823 (GRCm39) V44I probably damaging Het
Chodl T C 16: 78,738,151 (GRCm39) Y40H probably damaging Het
Heatr3 A G 8: 88,888,521 (GRCm39) D391G probably benign Het
Itpr1 G A 6: 108,358,294 (GRCm39) S620N probably benign Het
Kank1 T A 19: 25,401,680 (GRCm39) S1096T possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Krtap9-5 A G 11: 99,839,459 (GRCm39) I53M unknown Het
Limk2 G A 11: 3,305,475 (GRCm39) probably benign Het
Lrig2 G A 3: 104,371,484 (GRCm39) R382* probably null Het
Mamdc2 T A 19: 23,308,366 (GRCm39) D512V probably benign Het
Marchf1 A T 8: 66,871,529 (GRCm39) T353S possibly damaging Het
Mrc2 A G 11: 105,219,567 (GRCm39) D312G probably damaging Het
Myh9 C T 15: 77,665,678 (GRCm39) M627I probably benign Het
Nipa2 A T 7: 55,583,193 (GRCm39) I184N probably damaging Het
Npy1r A G 8: 67,157,428 (GRCm39) K246R probably benign Het
Pank4 C T 4: 155,056,922 (GRCm39) probably benign Het
Pcdh12 T A 18: 38,408,400 (GRCm39) E1035D probably damaging Het
Pias2 T A 18: 77,220,852 (GRCm39) D362E probably damaging Het
Pkd1l3 G T 8: 110,388,873 (GRCm39) V1872L possibly damaging Het
Postn T G 3: 54,270,131 (GRCm39) I70S probably damaging Het
Ppef2 A G 5: 92,397,055 (GRCm39) S107P possibly damaging Het
Prl3c1 T C 13: 27,386,408 (GRCm39) V131A probably benign Het
Qsox2 A G 2: 26,099,697 (GRCm39) V609A probably benign Het
Rhebl1 C A 15: 98,776,379 (GRCm39) E139D probably benign Het
Ryr3 A G 2: 112,582,150 (GRCm39) S2848P probably damaging Het
Scd2 T A 19: 44,286,497 (GRCm39) I109N probably benign Het
Sim1 A G 10: 50,857,630 (GRCm39) H460R probably damaging Het
Slc35f3 C A 8: 127,025,553 (GRCm39) P10Q probably damaging Het
Slf1 T C 13: 77,249,031 (GRCm39) probably benign Het
Stk10 G T 11: 32,527,740 (GRCm39) V163L probably benign Het
Tssk6 A G 8: 70,355,462 (GRCm39) T169A probably benign Het
Usp28 T A 9: 48,921,550 (GRCm39) V256E probably damaging Het
Vmn2r77 A T 7: 86,460,872 (GRCm39) I733F probably damaging Het
Other mutations in Hephl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Hephl1 APN 9 14,978,341 (GRCm39) missense probably benign 0.06
IGL01731:Hephl1 APN 9 14,981,066 (GRCm39) missense probably damaging 1.00
IGL02010:Hephl1 APN 9 15,001,852 (GRCm39) nonsense probably null
IGL02112:Hephl1 APN 9 14,993,111 (GRCm39) splice site probably benign
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 2013-06-21