Incidental Mutation 'R0563:Hephl1'
ID 46014
Institutional Source Beutler Lab
Gene Symbol Hephl1
Ensembl Gene ENSMUSG00000031936
Gene Name hephaestin-like 1
Synonyms zyklopen, thd, cw, Zp, LOC244698
MMRRC Submission 038754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R0563 (G1)
Quality Score 224
Status Validated
Chromosome 9
Chromosomal Location 14963137-15023404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14993241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 531 (D531G)
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
AlphaFold Q3V1H3
Predicted Effect probably damaging
Transcript: ENSMUST00000159985
AA Change: D531G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: D531G

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 0.5836 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,635 (GRCm39) P146T probably damaging Het
Ambn A C 5: 88,611,309 (GRCm39) N163T probably benign Het
Ankrd36 A T 11: 5,579,322 (GRCm39) E870D probably benign Het
Cdc123 T C 2: 5,803,212 (GRCm39) N269S probably benign Het
Cdc7 A T 5: 107,120,776 (GRCm39) probably benign Het
Cdh2 A T 18: 16,762,738 (GRCm39) V402D possibly damaging Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Dcdc5 G A 2: 106,180,035 (GRCm39) noncoding transcript Het
Eif4g3 T C 4: 137,903,151 (GRCm39) probably benign Het
Elovl4 C T 9: 83,667,087 (GRCm39) probably null Het
Fhl5 T G 4: 25,213,610 (GRCm39) I109L probably damaging Het
Gm16181 A G 17: 35,442,872 (GRCm39) probably benign Het
Gna14 A G 19: 16,585,483 (GRCm39) Y287C probably benign Het
Greb1 A T 12: 16,730,268 (GRCm39) C1720S probably benign Het
Gypa T A 8: 81,236,089 (GRCm39) S165T probably benign Het
Hsf2bp A T 17: 32,226,692 (GRCm39) L221Q probably damaging Het
Itsn1 A G 16: 91,617,684 (GRCm39) probably benign Het
Kif7 T C 7: 79,352,020 (GRCm39) E914G probably benign Het
Lrp1b T C 2: 40,640,926 (GRCm39) D3506G probably benign Het
Lrrc28 T C 7: 67,195,135 (GRCm39) N225S probably damaging Het
Lysmd4 T A 7: 66,875,925 (GRCm39) L196Q probably benign Het
Megf8 T C 7: 25,041,820 (GRCm39) C1245R probably damaging Het
Mgat4f A G 1: 134,317,777 (GRCm39) K183R probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mindy2 T A 9: 70,538,334 (GRCm39) I334L possibly damaging Het
Mrm1 A G 11: 84,705,539 (GRCm39) S287P probably damaging Het
Ncor1 A G 11: 62,234,056 (GRCm39) I382T probably damaging Het
Nectin1 A G 9: 43,702,342 (GRCm39) T30A probably benign Het
Nelfe A G 17: 35,073,215 (GRCm39) E250G possibly damaging Het
Nsd1 C A 13: 55,394,391 (GRCm39) T767K possibly damaging Het
Or1i2 G A 10: 78,448,467 (GRCm39) P3S probably benign Het
Or1j18 A T 2: 36,625,013 (GRCm39) K227* probably null Het
Or4e5 T A 14: 52,727,714 (GRCm39) K236* probably null Het
Or5b111 A G 19: 13,291,112 (GRCm39) I179T probably benign Het
Pcnx1 A G 12: 81,964,718 (GRCm39) D295G probably damaging Het
Pex14 A G 4: 149,046,003 (GRCm39) V309A possibly damaging Het
Phf14 C T 6: 11,933,600 (GRCm39) probably benign Het
Pnpla6 A G 8: 3,573,333 (GRCm39) D399G possibly damaging Het
Prim1 A G 10: 127,862,423 (GRCm39) D340G probably damaging Het
Rb1 A G 14: 73,454,207 (GRCm39) F564L probably damaging Het
Rcc1l G C 5: 134,205,394 (GRCm39) R54G probably benign Het
Rnf151 G A 17: 24,936,430 (GRCm39) probably benign Het
Rnf40 T C 7: 127,192,048 (GRCm39) L398P probably damaging Het
Robo1 C T 16: 72,769,174 (GRCm39) T531I probably benign Het
Rps6ka2 A T 17: 7,521,836 (GRCm39) I198F probably damaging Het
Sgk2 T C 2: 162,846,164 (GRCm39) L264P probably damaging Het
Slc26a6 T A 9: 108,734,869 (GRCm39) I281N probably damaging Het
Tnxb A T 17: 34,935,921 (GRCm39) K2657N probably benign Het
Tor1aip1 G A 1: 155,911,554 (GRCm39) T143M probably damaging Het
Tpr A G 1: 150,284,609 (GRCm39) D358G probably benign Het
Vstm2b T C 7: 40,551,899 (GRCm39) S76P probably damaging Het
Wdr33 A G 18: 32,019,792 (GRCm39) K488R possibly damaging Het
Ythdc2 T A 18: 44,997,915 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- GTGCTCTGTGCCTCAACAGCAA -3'
(R):5'- GCCTGGCAAGCCTGGTGTTCTT -3'

Sequencing Primer
(F):5'- TCATGGATGTGCCCAAGTC -3'
(R):5'- TTGGCTGTGTGCCAACC -3'
Posted On 2013-06-11