Incidental Mutation 'R6394:Hephl1'
ID 515952
Institutional Source Beutler Lab
Gene Symbol Hephl1
Ensembl Gene ENSMUSG00000031936
Gene Name hephaestin-like 1
Synonyms zyklopen, thd, cw, Zp, LOC244698
MMRRC Submission 044543-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 14963137-15023404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14985397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 753 (F753S)
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
AlphaFold Q3V1H3
Predicted Effect probably benign
Transcript: ENSMUST00000159985
AA Change: F753S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: F753S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,760,029 (GRCm39) probably null Het
Alpi T A 1: 87,028,428 (GRCm39) Y154F possibly damaging Het
Als2 A T 1: 59,206,356 (GRCm39) F1635I probably damaging Het
Anxa1 C T 19: 20,361,213 (GRCm39) V60M probably damaging Het
Atp10b A G 11: 43,116,464 (GRCm39) Y937C probably damaging Het
Brd4 C A 17: 32,443,121 (GRCm39) E167* probably null Het
Cacna1h G A 17: 25,606,455 (GRCm39) T1048I probably benign Het
Ccdc113 A G 8: 96,283,820 (GRCm39) D298G probably benign Het
Cfap100 T A 6: 90,394,605 (GRCm39) N74I possibly damaging Het
Chd8 A T 14: 52,440,042 (GRCm39) H4Q possibly damaging Het
Clcn1 A G 6: 42,284,524 (GRCm39) T621A possibly damaging Het
Clcn1 A G 6: 42,290,172 (GRCm39) T843A possibly damaging Het
Clcn3 C T 8: 61,394,325 (GRCm39) R68Q probably damaging Het
Dcaf13 T A 15: 39,007,132 (GRCm39) N355K probably benign Het
Dnah6 A T 6: 73,132,401 (GRCm39) C1100* probably null Het
Dync2h1 A T 9: 7,168,331 (GRCm39) V428E probably damaging Het
E230025N22Rik T C 18: 36,819,839 (GRCm39) E317G probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Evc2 C A 5: 37,535,619 (GRCm39) D431E probably damaging Het
Gcm2 T G 13: 41,263,373 (GRCm39) T20P probably damaging Het
Gdf9 A G 11: 53,327,524 (GRCm39) Y160C probably damaging Het
Gm8220 A G 14: 44,523,134 (GRCm39) probably benign Het
Gpalpp1 A T 14: 76,344,852 (GRCm39) S44T possibly damaging Het
Grip2 T C 6: 91,764,182 (GRCm39) Y134C probably damaging Het
Herc1 A G 9: 66,302,341 (GRCm39) T727A probably damaging Het
Herc2 A G 7: 55,865,729 (GRCm39) E4232G probably damaging Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Itga11 T A 9: 62,642,548 (GRCm39) probably null Het
Jrkl A C 9: 13,245,495 (GRCm39) Y55* probably null Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kif18b A G 11: 102,805,236 (GRCm39) V303A probably damaging Het
Klhl29 A T 12: 5,144,830 (GRCm39) C423* probably null Het
Klhl29 T C 12: 5,187,720 (GRCm39) S215G probably benign Het
Lamp5 A G 2: 135,902,929 (GRCm39) D216G possibly damaging Het
Leo1 T A 9: 75,352,752 (GRCm39) D98E probably benign Het
Map3k3 T C 11: 106,039,709 (GRCm39) V283A probably benign Het
Med12l A G 3: 59,142,508 (GRCm39) K902E probably damaging Het
Mmp1b C A 9: 7,386,316 (GRCm39) D202Y probably benign Het
Muc21 A T 17: 35,931,058 (GRCm39) probably benign Het
Onecut3 A G 10: 80,331,847 (GRCm39) I336V probably damaging Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or10g9 T C 9: 39,912,001 (GRCm39) Q174R probably benign Het
Or10h1 G A 17: 33,418,487 (GRCm39) G155D probably damaging Het
Or4c11b C T 2: 88,625,296 (GRCm39) T190I probably benign Het
Or56b1 T A 7: 104,284,909 (GRCm39) N9K possibly damaging Het
Or56b1 T C 7: 104,285,234 (GRCm39) S118P possibly damaging Het
Or5p64 C T 7: 107,854,970 (GRCm39) R125H possibly damaging Het
Or6c69 G T 10: 129,747,789 (GRCm39) D119E probably damaging Het
Osbpl6 T C 2: 76,386,298 (GRCm39) V207A probably benign Het
Pde3a A T 6: 141,433,237 (GRCm39) H756L probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phyh A G 2: 4,940,814 (GRCm39) D238G probably benign Het
Pnliprp2 T A 19: 58,750,030 (GRCm39) N92K probably benign Het
Pole3 T C 4: 62,442,263 (GRCm39) probably benign Het
Ppm1d T C 11: 85,230,498 (GRCm39) V372A probably benign Het
Prpf40a A T 2: 53,034,890 (GRCm39) I766N probably damaging Het
Prr5 T A 15: 84,583,925 (GRCm39) V175E probably damaging Het
Prss59 A T 6: 40,898,726 (GRCm39) L174* probably null Het
Ptprq T A 10: 107,478,804 (GRCm39) K1280* probably null Het
Rbp2 T A 9: 98,389,873 (GRCm39) V95E possibly damaging Het
Rictor T C 15: 6,798,790 (GRCm39) F346L possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Scn10a T A 9: 119,490,386 (GRCm39) I519F probably benign Het
Setd5 T G 6: 113,092,505 (GRCm39) V295G probably damaging Het
Shcbp1 A T 8: 4,786,176 (GRCm39) M642K probably damaging Het
Slc13a3 C T 2: 165,276,017 (GRCm39) G243E probably damaging Het
Smg9 T C 7: 24,121,732 (GRCm39) Y498H probably damaging Het
Sox5 T C 6: 143,987,039 (GRCm39) D175G probably damaging Het
Stard7 A G 2: 127,126,161 (GRCm39) D71G probably damaging Het
Stxbp5 A T 10: 9,774,975 (GRCm39) Y59* probably null Het
Supt6 G A 11: 78,121,891 (GRCm39) R254C probably damaging Het
Syne2 C T 12: 76,037,269 (GRCm39) T3817I probably benign Het
Tas2r124 T A 6: 132,732,039 (GRCm39) I116N probably damaging Het
Trim9 T A 12: 70,301,987 (GRCm39) E550D possibly damaging Het
Vmn2r50 A G 7: 9,774,253 (GRCm39) S548P probably damaging Het
Zmynd8 C A 2: 165,687,943 (GRCm39) E126* probably null Het
Zswim9 A T 7: 12,994,889 (GRCm39) S422R probably damaging 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
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
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'- CCAGAAGACAGAAGCGTCTCTC -3'
(R):5'- CCAGAAATCTCAAGTCATGGTCAC -3'

Sequencing Primer
(F):5'- GAAGACAGAAGCGTCTCTCATTTTC -3'
(R):5'- TCTCCTCAGGTATTTTCAAGGTG -3'
Posted On 2018-05-04