Incidental Mutation 'R0602:Hephl1'
ID 55490
Institutional Source Beutler Lab
Gene Symbol Hephl1
Ensembl Gene ENSMUSG00000031936
Gene Name hephaestin-like 1
Synonyms zyklopen, thd, cw, Zp, LOC244698
MMRRC Submission 038791-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R0602 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 14963137-15023404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15000347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 302 (I302F)
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
AlphaFold Q3V1H3
Predicted Effect probably damaging
Transcript: ENSMUST00000159985
AA Change: I302F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: I302F

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
Meta Mutation Damage Score 0.3850 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.1%
  • 10x: 97.5%
  • 20x: 94.7%
Validation Efficiency 95% (58/61)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik T C 7: 136,978,090 (GRCm39) probably benign Het
Arih1 A G 9: 59,302,154 (GRCm39) probably benign Het
Bcl9 T C 3: 97,113,102 (GRCm39) I1118V probably benign Het
Cap1 T C 4: 122,766,202 (GRCm39) E12G probably damaging Het
Ccdc168 T A 1: 44,099,127 (GRCm39) K657I possibly damaging Het
Ccr2 A G 9: 123,906,658 (GRCm39) I313V probably benign Het
Cd1d2 T C 3: 86,895,110 (GRCm39) S161P probably benign Het
Cd226 C T 18: 89,287,135 (GRCm39) T311I probably benign Het
Col25a1 A G 3: 130,369,063 (GRCm39) probably null Het
Cspg4 T C 9: 56,795,301 (GRCm39) F1012S probably damaging Het
Dnah7b A G 1: 46,364,002 (GRCm39) M3541V probably damaging Het
Erbb2 G A 11: 98,325,097 (GRCm39) V852M probably damaging Het
Fer1l6 A C 15: 58,449,794 (GRCm39) T667P probably damaging Het
Gal3st2c A G 1: 93,936,901 (GRCm39) Y282C probably damaging Het
Glp1r T C 17: 31,128,201 (GRCm39) L60P probably benign Het
Gtf2h2 A G 13: 100,605,533 (GRCm39) V358A probably benign Het
H2ac18 T C 3: 96,152,866 (GRCm39) probably benign Het
Lgi2 T C 5: 52,711,765 (GRCm39) D185G probably damaging Het
Lrtm1 T C 14: 28,744,179 (GRCm39) probably benign Het
Megf10 T G 18: 57,395,172 (GRCm39) D511E probably damaging Het
Myo5c A G 9: 75,173,478 (GRCm39) probably null Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nrm C A 17: 36,175,156 (GRCm39) Y61* probably null Het
Ola1 A G 2: 72,924,056 (GRCm39) Y368H probably damaging Het
Or52s1 A C 7: 102,861,787 (GRCm39) H229P possibly damaging Het
Or9i1b A G 19: 13,897,145 (GRCm39) T254A probably benign Het
Or9q2 T C 19: 13,772,026 (GRCm39) probably null Het
Panx1 A G 9: 14,921,500 (GRCm39) L125P probably damaging Het
Pappa2 A G 1: 158,590,625 (GRCm39) probably benign Het
Parp6 A G 9: 59,556,648 (GRCm39) probably benign Het
Pomgnt2 A G 9: 121,811,339 (GRCm39) Y481H probably benign Het
Ppp4c A G 7: 126,388,254 (GRCm39) probably benign Het
Prl8a8 T A 13: 27,692,533 (GRCm39) probably benign Het
Prpf40b C A 15: 99,202,352 (GRCm39) A70E unknown Het
Ptgfr G A 3: 151,540,839 (GRCm39) T223M probably damaging Het
Ptprc C T 1: 138,017,223 (GRCm39) probably benign Het
Rgs22 T C 15: 36,140,018 (GRCm39) probably benign Het
Rpgrip1 A G 14: 52,371,313 (GRCm39) E344G possibly damaging Het
Sgca A T 11: 94,854,061 (GRCm39) I383N possibly damaging Het
Sgms2 T A 3: 131,118,756 (GRCm39) probably null Het
Slc9b1 C A 3: 135,103,516 (GRCm39) Q549K probably benign Het
Smc4 G C 3: 68,916,871 (GRCm39) A187P probably damaging Het
Smco1 A G 16: 32,092,062 (GRCm39) S47G probably damaging Het
Sobp T A 10: 42,898,385 (GRCm39) E400V probably damaging Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Stil T A 4: 114,881,620 (GRCm39) probably benign Het
Sult3a2 A T 10: 33,658,044 (GRCm39) M23K probably benign Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcof1 C A 18: 60,966,605 (GRCm39) G329W probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Vmn1r171 G T 7: 23,332,602 (GRCm39) V276L probably benign Het
Vps13b T C 15: 35,422,514 (GRCm39) L158P probably damaging Het
Vps54 A G 11: 21,256,434 (GRCm39) I634M possibly damaging Het
Vwa8 T G 14: 79,258,060 (GRCm39) S736R 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGCTTGGGTGGGAAATTGACTCC -3'
(R):5'- CCACACACGGATTGTCTAGCTTTGG -3'

Sequencing Primer
(F):5'- CACATCTAGGCTCATGTTACAGG -3'
(R):5'- ATTGTCTAGCTTTGGTCCTGC -3'
Posted On 2013-07-11