Incidental Mutation 'R6764:Hephl1'
ID 531821
Institutional Source Beutler Lab
Gene Symbol Hephl1
Ensembl Gene ENSMUSG00000031936
Gene Name hephaestin-like 1
Synonyms zyklopen, thd, cw, Zp, LOC244698
MMRRC Submission 044880-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6764 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 14963137-15023404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 15000217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 345 (T345I)
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
AlphaFold Q3V1H3
Predicted Effect possibly damaging
Transcript: ENSMUST00000159985
AA Change: T345I

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: T345I

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 0.2093 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 G T 11: 53,290,657 (GRCm39) R539L probably damaging Het
Aox1 T A 1: 58,389,441 (GRCm39) Y1147N probably damaging Het
Arhgef25 A G 10: 127,019,970 (GRCm39) F423L probably damaging Het
Atp1a2 A T 1: 172,112,181 (GRCm39) D571E probably benign Het
Bank1 A G 3: 135,948,701 (GRCm39) S159P probably damaging Het
Bcan C A 3: 87,895,685 (GRCm39) R817L probably damaging Het
Cacna1g A G 11: 94,304,014 (GRCm39) S1990P possibly damaging Het
Ccna1 G A 3: 54,953,499 (GRCm39) T368M probably damaging Het
Chia1 T C 3: 106,038,056 (GRCm39) probably null Het
Ctbp1 T C 5: 33,416,589 (GRCm39) H136R possibly damaging Het
Dner T G 1: 84,472,502 (GRCm39) D366A probably damaging Het
Eif3d A T 15: 77,845,886 (GRCm39) D378E probably damaging Het
Evpl A G 11: 116,113,770 (GRCm39) S1307P probably damaging Het
Fgd5 T A 6: 91,966,402 (GRCm39) N720K probably damaging Het
Fmn1 A G 2: 113,355,560 (GRCm39) E667G unknown Het
Gm4846 A G 1: 166,319,121 (GRCm39) C206R probably benign Het
Grpel1 G A 5: 36,622,569 (GRCm39) R11H probably benign Het
Gsn A G 2: 35,174,056 (GRCm39) Y55C probably damaging Het
Ints2 T A 11: 86,103,605 (GRCm39) K1150N probably benign Het
Itga4 C A 2: 79,155,958 (GRCm39) H975N probably benign Het
Musk T C 4: 58,354,027 (GRCm39) V360A probably damaging Het
Naalad2 A T 9: 18,314,185 (GRCm39) probably benign Het
Ninj2 G T 6: 120,175,011 (GRCm39) A51S probably benign Het
Nscme3l A G 19: 5,552,900 (GRCm39) S294P probably damaging Het
Pcdhac1 T C 18: 37,223,732 (GRCm39) Y182H probably damaging Het
Pitpnm3 A G 11: 71,942,059 (GRCm39) F916S probably damaging Het
Sfrp5 T A 19: 42,188,238 (GRCm39) M194L probably benign Het
Sigirr C T 7: 140,673,155 (GRCm39) V99I probably benign Het
Smco2 A G 6: 146,772,827 (GRCm39) D343G probably damaging Het
Snap91 A G 9: 86,674,234 (GRCm39) I584T probably benign Het
Syne1 G A 10: 5,179,011 (GRCm39) Q4488* probably null Het
Tbc1d24 A C 17: 24,404,754 (GRCm39) F130C possibly damaging Het
Trpm7 A G 2: 126,686,340 (GRCm39) V296A possibly damaging Het
Ttll11 T C 2: 35,780,460 (GRCm39) probably null Het
Vmn2r115 A G 17: 23,565,046 (GRCm39) D311G probably damaging Het
Vmn2r63 A G 7: 42,552,695 (GRCm39) S854P probably damaging Het
Zfp330 C T 8: 83,493,934 (GRCm39) C109Y probably damaging Het
Zfp534 C T 4: 147,759,175 (GRCm39) G498D probably benign Het
Zfp62 A G 11: 49,105,996 (GRCm39) D29G 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
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
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'- CTAAATACACACTGTGCTTTGCAG -3'
(R):5'- AACATGCCTGAGCCTGAGATG -3'

Sequencing Primer
(F):5'- CTGTGCTTTGCAGATGCTAAATAGTC -3'
(R):5'- CGTTGGCGAATCTGTGTCC -3'
Posted On 2018-08-29