Incidental Mutation 'R3122:Hephl1'
ID 264113
Institutional Source Beutler Lab
Gene Symbol Hephl1
Ensembl Gene ENSMUSG00000031936
Gene Name hephaestin-like 1
Synonyms zyklopen, thd, cw, Zp, LOC244698
MMRRC Submission 040595-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R3122 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 14963137-15023404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15000265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 329 (F329S)
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
AlphaFold Q3V1H3
Predicted Effect possibly damaging
Transcript: ENSMUST00000159985
AA Change: F329S

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: F329S

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 0.4860 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,118,248 (GRCm39) N8S possibly damaging Het
Ago3 A G 4: 126,311,165 (GRCm39) I16T probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Brdt A G 5: 107,525,011 (GRCm39) T851A probably damaging Het
Capn7 A T 14: 31,081,167 (GRCm39) I395F probably damaging Het
Ccbe1 A G 18: 66,199,900 (GRCm39) M274T probably benign Het
Ccdc146 T C 5: 21,499,591 (GRCm39) R864G possibly damaging Het
Ccdc17 G T 4: 116,456,749 (GRCm39) probably benign Het
Ccdc85a C A 11: 28,533,499 (GRCm39) C15F unknown Het
Cpt1c A G 7: 44,609,345 (GRCm39) Y715H probably damaging Het
Dmwd T A 7: 18,814,620 (GRCm39) F423L probably damaging Het
Dock3 C G 9: 106,788,542 (GRCm39) A1598P probably damaging Het
Ext2 A G 2: 93,644,170 (GRCm39) L37P probably damaging Het
Fam120a T C 13: 49,045,562 (GRCm39) D758G possibly damaging Het
Foxn4 T C 5: 114,396,776 (GRCm39) T236A probably damaging Het
Gm9776 A T 13: 94,495,194 (GRCm39) probably benign Het
Grik1 A T 16: 87,803,361 (GRCm39) M277K probably damaging Het
H2-T23 T A 17: 36,341,855 (GRCm39) M248L probably benign Het
Kif13a G A 13: 46,918,072 (GRCm39) probably benign Het
Knl1 T A 2: 118,899,425 (GRCm39) H375Q probably benign Het
Lox A G 18: 52,658,177 (GRCm39) F332S probably damaging Het
Ltf G A 9: 110,851,968 (GRCm39) C135Y probably damaging Het
Madd A G 2: 91,006,554 (GRCm39) Y347H probably damaging Het
Mboat1 T C 13: 30,422,031 (GRCm39) Y387H probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naip1 T C 13: 100,545,503 (GRCm39) T1342A probably damaging Het
Naip6 T C 13: 100,453,031 (GRCm39) D10G probably benign Het
Nudt8 A G 19: 4,052,015 (GRCm39) R209G possibly damaging Het
Or4c31 G T 2: 88,291,853 (GRCm39) M75I probably damaging Het
Or56a3 T C 7: 104,735,385 (GRCm39) V154A probably benign Het
Or8k35 A T 2: 86,424,954 (GRCm39) Y73N possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Phactr1 T A 13: 43,213,049 (GRCm39) S131T possibly damaging Het
Phactr3 A G 2: 177,973,411 (GRCm39) I475V probably damaging Het
Pip T A 6: 41,828,819 (GRCm39) N121K probably damaging Het
Pla2g4d T C 2: 120,109,384 (GRCm39) R222G probably benign Het
Rbm42 A G 7: 30,349,152 (GRCm39) probably benign Het
Sowahb T C 5: 93,191,261 (GRCm39) D486G possibly damaging Het
Svep1 C T 4: 58,087,845 (GRCm39) V1745I possibly damaging Het
Tnfsf15 T A 4: 63,652,522 (GRCm39) E96D probably benign Het
Vmn1r217 A G 13: 23,298,249 (GRCm39) S218P probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r71 T G 7: 85,264,828 (GRCm39) Y53* probably null Het
Wapl A G 14: 34,451,172 (GRCm39) I729M possibly damaging Het
Wrnip1 A G 13: 32,986,744 (GRCm39) D175G probably benign Het
Zscan2 G A 7: 80,513,092 (GRCm39) A26T 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
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
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'- AAGAGATCCTGTGACCATGGTAG -3'
(R):5'- CCATCTTCAGGGGAGTGTCTTC -3'

Sequencing Primer
(F):5'- TGTGACCATGGTAGAACCCAGTC -3'
(R):5'- TGTTTGCAGCCCTCAATGG -3'
Posted On 2015-02-05