Incidental Mutation 'R6210:Hephl1'
ID 503409
Institutional Source Beutler Lab
Gene Symbol Hephl1
Ensembl Gene ENSMUSG00000031936
Gene Name hephaestin-like 1
Synonyms zyklopen, thd, cw, Zp, LOC244698
MMRRC Submission 044344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6210 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 14963137-15023404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15001860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 161 (Y161H)
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
AlphaFold Q3V1H3
Predicted Effect possibly damaging
Transcript: ENSMUST00000159985
AA Change: Y161H

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: Y161H

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 0.2252 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T A 18: 10,706,032 (GRCm39) I94F probably damaging Het
Bbox1 A T 2: 110,100,422 (GRCm39) D258E probably benign Het
Catsperb A G 12: 101,378,827 (GRCm39) probably null Het
Ccdc127 T C 13: 74,505,040 (GRCm39) V196A probably benign Het
Cd101 A T 3: 100,925,959 (GRCm39) D253E probably damaging Het
Ceacam15 T C 7: 16,407,214 (GRCm39) Y101C probably damaging Het
Cep135 C T 5: 76,772,570 (GRCm39) L652F probably benign Het
Col5a1 G T 2: 27,922,633 (GRCm39) V234L probably benign Het
Cxcr6 T C 9: 123,639,073 (GRCm39) S25P possibly damaging Het
Dctn4 C T 18: 60,679,865 (GRCm39) Q258* probably null Het
Fmnl2 A T 2: 53,020,457 (GRCm39) N1067I possibly damaging Het
Frrs1 A T 3: 116,672,080 (GRCm39) K59N probably benign Het
Gpr157 T C 4: 150,186,055 (GRCm39) Y206H probably damaging Het
Hinfp C T 9: 44,210,169 (GRCm39) probably null Het
Igf2r A T 17: 12,933,838 (GRCm39) N805K probably damaging Het
Ilrun A T 17: 27,986,960 (GRCm39) D255E probably benign Het
Itga3 T C 11: 94,959,717 (GRCm39) probably benign Het
Itga6 A G 2: 71,664,351 (GRCm39) probably null Het
Kcnip1 G A 11: 33,595,600 (GRCm39) T30I possibly damaging Het
Lig4 T C 8: 10,021,585 (GRCm39) T732A probably benign Het
Lmod3 T A 6: 97,224,262 (GRCm39) T520S probably damaging Het
Megf8 G A 7: 25,043,145 (GRCm39) V1356I possibly damaging Het
Mical3 C T 6: 121,017,478 (GRCm39) probably null Het
Msi1 T C 5: 115,573,535 (GRCm39) I8T probably damaging Het
Mug4-ps A T 6: 121,927,276 (GRCm39) noncoding transcript Het
Myo1f T A 17: 33,820,044 (GRCm39) I783N probably damaging Het
Nr6a1 A C 2: 38,619,509 (GRCm39) I462S probably damaging Het
Or2t48 C T 11: 58,420,090 (GRCm39) A241T probably damaging Het
Or8k23 A G 2: 86,186,702 (GRCm39) V8A probably benign Het
Pah C A 10: 87,419,423 (GRCm39) Q449K probably benign Het
Pced1a A G 2: 130,263,839 (GRCm39) V271A probably damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Psg21 A G 7: 18,386,270 (GRCm39) Y239H probably damaging Het
Ptprt T C 2: 162,109,949 (GRCm39) Y180C probably damaging Het
Raet1d T A 10: 22,246,849 (GRCm39) I59N probably damaging Het
Rfx1 T C 8: 84,819,647 (GRCm39) L653P probably damaging Het
Rnase2a A G 14: 51,493,131 (GRCm39) V78A possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Serbp1 T C 6: 67,249,851 (GRCm39) probably benign Het
Tlr1 A T 5: 65,082,629 (GRCm39) H649Q probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 T A 9: 8,656,731 (GRCm39) D719E probably benign Het
Ttc21b A T 2: 66,066,698 (GRCm39) S318R probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Uhmk1 T C 1: 170,039,806 (GRCm39) Q187R probably damaging Het
Ung C T 5: 114,269,438 (GRCm39) A50V probably benign Het
Upk3bl C T 5: 136,088,674 (GRCm39) Q103* probably null Het
Usp17le C A 7: 104,418,350 (GRCm39) C264F probably damaging Het
Vmn2r105 T A 17: 20,448,758 (GRCm39) N140Y probably damaging Het
Vmn2r84 C T 10: 130,222,114 (GRCm39) C702Y probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp748 G A 13: 67,688,923 (GRCm39) P779L possibly 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
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'- GCTTTTGGAAATGGAGACTGC -3'
(R):5'- CTAAGAACTCAGTGGGCTTCAC -3'

Sequencing Primer
(F):5'- TGGAAATGGAGACTGCCTACCTTC -3'
(R):5'- TTCACCTCAGGCTCTATGGCAAATAC -3'
Posted On 2018-02-27