Incidental Mutation 'IGL02010:Hephl1'
ID 183332
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 # IGL02010
Quality Score
Status
Chromosome 9
Chromosomal Location 14963137-15023404 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 15001852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 163 (Y163*)
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
AlphaFold Q3V1H3
Predicted Effect probably null
Transcript: ENSMUST00000159985
AA Change: Y163*
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: Y163*

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,110,442 (GRCm39) D569G probably benign Het
Abhd17b C T 19: 21,661,485 (GRCm39) T224I probably benign Het
Atf6b T A 17: 34,873,626 (GRCm39) S695R probably benign Het
Cdh6 A C 15: 13,034,276 (GRCm39) probably benign Het
Cep290 G T 10: 100,344,569 (GRCm39) C462F probably benign Het
Cep290 T C 10: 100,397,207 (GRCm39) S2156P probably benign Het
Cfap20dc A T 14: 8,578,384 (GRCm38) H119Q possibly damaging Het
Cit T C 5: 116,014,006 (GRCm39) F240L probably damaging Het
Col1a2 T A 6: 4,512,416 (GRCm39) probably null Het
Ctcf T A 8: 106,391,597 (GRCm39) H297Q probably damaging Het
Dhx29 T C 13: 113,103,168 (GRCm39) probably null Het
Dhx37 T G 5: 125,495,777 (GRCm39) T835P possibly damaging Het
Enc1 C T 13: 97,381,588 (GRCm39) L33F possibly damaging Het
Epyc T A 10: 97,485,563 (GRCm39) M1K probably null Het
F10 T C 8: 13,098,292 (GRCm39) I165T probably damaging Het
Fam124a T C 14: 62,824,728 (GRCm39) L74P probably damaging Het
Fam234b A G 6: 135,186,405 (GRCm39) S138G probably benign Het
Fam81a T C 9: 70,006,419 (GRCm39) K198E probably benign Het
Fbn2 T C 18: 58,170,794 (GRCm39) Y2199C probably damaging Het
Fign A C 2: 63,810,744 (GRCm39) S175R probably damaging Het
Grik1 T C 16: 87,848,396 (GRCm39) N124S possibly damaging Het
Hdac9 G T 12: 34,481,944 (GRCm39) L175M probably damaging Het
Hes1 G A 16: 29,886,128 (GRCm39) G244D probably damaging Het
Hexb A G 13: 97,313,353 (GRCm39) L501P probably benign Het
Igkv5-43 T C 6: 69,752,936 (GRCm39) I49V probably benign Het
Ipo5 T C 14: 121,170,789 (GRCm39) S491P probably benign Het
Jakmip2 C T 18: 43,692,158 (GRCm39) probably null Het
Lrfn5 A G 12: 61,886,469 (GRCm39) T86A probably damaging Het
Lrp1b T C 2: 41,358,954 (GRCm39) T640A probably damaging Het
M6pr G T 6: 122,292,085 (GRCm39) R139L possibly damaging Het
Myl9 A T 2: 156,620,579 (GRCm39) N39Y probably damaging Het
Nlrp3 A G 11: 59,440,361 (GRCm39) D646G probably benign Het
Nlrp5 A T 7: 23,116,797 (GRCm39) M174L probably benign Het
Nnmt T A 9: 48,503,331 (GRCm39) I232F probably damaging Het
Nrg1 T C 8: 32,408,171 (GRCm39) T21A probably benign Het
Or5t15 C T 2: 86,681,541 (GRCm39) C167Y possibly damaging Het
Or6c65 A G 10: 129,604,136 (GRCm39) Y257C probably benign Het
Pcare T A 17: 72,056,459 (GRCm39) T1073S probably benign Het
Pcdh7 T G 5: 58,286,597 (GRCm39) N1224K probably benign Het
Pde4a T C 9: 21,114,850 (GRCm39) probably null Het
Pfkfb3 T C 2: 11,488,805 (GRCm39) T320A probably benign Het
Plekhm2 T C 4: 141,364,730 (GRCm39) probably benign Het
Rabgap1l C T 1: 160,299,641 (GRCm39) R584H probably damaging Het
Rnf157 T A 11: 116,287,052 (GRCm39) N57I probably damaging Het
Rtf1 G A 2: 119,531,747 (GRCm39) probably null Het
Sap130 C A 18: 31,782,655 (GRCm39) R189S probably damaging Het
Slc34a1 T G 13: 24,003,025 (GRCm39) V225G probably benign Het
Smg1 T C 7: 117,785,369 (GRCm39) probably benign Het
Tecta G A 9: 42,248,489 (GRCm39) T1971I probably damaging Het
Tlcd5 A T 9: 43,022,859 (GRCm39) V165E probably damaging Het
Tmem263 T A 10: 84,950,274 (GRCm39) S22T probably benign Het
Tnrc18 A T 5: 142,773,049 (GRCm39) F410L unknown Het
Ttc27 T G 17: 75,087,906 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,668 (GRCm39) C101S probably damaging Het
Wdr17 T C 8: 55,112,738 (GRCm39) K781E probably damaging Het
Xkr6 C T 14: 64,056,653 (GRCm39) T188M probably benign 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
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 2014-05-07