Incidental Mutation 'R5372:Hephl1'
ID 428800
Institutional Source Beutler Lab
Gene Symbol Hephl1
Ensembl Gene ENSMUSG00000031936
Gene Name hephaestin-like 1
Synonyms zyklopen, thd, cw, Zp, LOC244698
MMRRC Submission 042948-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5372 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 14963137-15023404 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 15009195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 132 (Y132*)
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
AlphaFold Q3V1H3
Predicted Effect probably null
Transcript: ENSMUST00000159985
AA Change: Y132*
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: Y132*

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 0.9717 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (89/93)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,848,988 (GRCm39) D108E probably damaging Het
Abhd12b A G 12: 70,227,800 (GRCm39) D194G probably damaging Het
Adck5 A G 15: 76,478,707 (GRCm39) probably benign Het
Adgrb3 C T 1: 25,167,940 (GRCm39) V792I probably benign Het
Anxa8 G A 14: 33,815,868 (GRCm39) V174M probably damaging Het
Apol9b A T 15: 77,619,920 (GRCm39) R239W probably benign Het
Arhgap26 A G 18: 38,775,509 (GRCm39) noncoding transcript Het
Atrnl1 A G 19: 57,743,968 (GRCm39) Y1190C probably benign Het
Brinp3 T G 1: 146,707,464 (GRCm39) L376R probably damaging Het
Btbd2 A T 10: 80,484,475 (GRCm39) M132K probably damaging Het
C130073F10Rik A T 4: 101,747,684 (GRCm39) I115K probably damaging Het
C1ra T A 6: 124,498,584 (GRCm39) Y426N probably damaging Het
Cacna1b A T 2: 24,623,971 (GRCm39) V203E probably damaging Het
Catsperg1 T A 7: 28,910,137 (GRCm39) D68V probably benign Het
Ccdc158 A C 5: 92,780,419 (GRCm39) S885A possibly damaging Het
Cdc42bpa T C 1: 179,892,544 (GRCm39) V236A probably damaging Het
Cdca7 A T 2: 72,312,793 (GRCm39) E176D probably damaging Het
Cdk17 A G 10: 93,061,901 (GRCm39) D211G probably benign Het
Clca3a2 A C 3: 144,503,286 (GRCm39) M888R probably benign Het
Clcn7 T A 17: 25,376,153 (GRCm39) M568K possibly damaging Het
Clip1 G T 5: 123,768,303 (GRCm39) N811K probably benign Het
Col12a1 T A 9: 79,585,648 (GRCm39) Y1243F probably damaging Het
Dctn1 T A 6: 83,167,192 (GRCm39) D315E probably damaging Het
Dgcr2 T C 16: 17,690,508 (GRCm39) T41A probably benign Het
Dync2h1 G A 9: 7,176,962 (GRCm39) probably benign Het
Ep300 A G 15: 81,521,031 (GRCm39) I1264V unknown Het
Fam167b A T 4: 129,472,092 (GRCm39) L26Q possibly damaging Het
Fam178b T A 1: 36,603,929 (GRCm39) I457F possibly damaging Het
Fgd4 A T 16: 16,302,155 (GRCm39) N133K probably benign Het
Fndc1 C G 17: 7,984,042 (GRCm39) V1295L unknown Het
Gad2 A T 2: 22,580,255 (GRCm39) D552V possibly damaging Het
Hars2 T C 18: 36,923,534 (GRCm39) Y361H possibly damaging Het
Heca T A 10: 17,790,887 (GRCm39) S390C probably damaging Het
Hormad1 T A 3: 95,483,735 (GRCm39) D182E probably damaging Het
Ifna15 G A 4: 88,476,338 (GRCm39) P49S probably damaging Het
Khsrp T C 17: 57,331,292 (GRCm39) T429A possibly damaging Het
Magi2 A G 5: 20,907,108 (GRCm39) Q1094R possibly damaging Het
Map3k11 T A 19: 5,740,990 (GRCm39) I239K probably damaging Het
Mtus2 A G 5: 148,250,222 (GRCm39) T1319A probably damaging Het
Nup54 A G 5: 92,565,716 (GRCm39) I406T probably damaging Het
Nxpe2 T C 9: 48,250,819 (GRCm39) T43A possibly damaging Het
Nynrin A G 14: 56,105,948 (GRCm39) E889G probably benign Het
Opa1 A C 16: 29,404,937 (GRCm39) H45P probably benign Het
Or14c44 T A 7: 86,062,176 (GRCm39) I202N possibly damaging Het
Or4f60 A G 2: 111,902,454 (GRCm39) I158T probably benign Het
Or56b2j A G 7: 104,353,002 (GRCm39) D76G probably benign Het
Or8a1b T C 9: 37,623,234 (GRCm39) M114V possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Papola A G 12: 105,793,309 (GRCm39) K543R probably benign Het
Plcxd3 G A 15: 4,604,270 (GRCm39) V293I probably benign Het
Polr2g T C 19: 8,774,667 (GRCm39) Y72C probably damaging Het
Ppp1r21 A G 17: 88,858,103 (GRCm39) K205E probably benign Het
Ptpre A G 7: 135,255,669 (GRCm39) K53E possibly damaging Het
Rasal3 T C 17: 32,610,318 (GRCm39) K990E probably benign Het
Rgs3 A T 4: 62,570,934 (GRCm39) probably benign Het
Rhd A G 4: 134,611,943 (GRCm39) T254A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scube3 G T 17: 28,371,456 (GRCm39) C57F probably damaging Het
Sh2d5 A G 4: 137,982,010 (GRCm39) D57G possibly damaging Het
Slc12a6 T A 2: 112,177,705 (GRCm39) L608* probably null Het
Slk A T 19: 47,613,832 (GRCm39) N896I probably damaging Het
Smc6 A G 12: 11,332,431 (GRCm39) D211G probably damaging Het
Sox6 A T 7: 115,149,386 (GRCm39) Y371* probably null Het
Srcap G A 7: 127,156,785 (GRCm39) probably null Het
Stard5 T A 7: 83,282,428 (GRCm39) D80E probably damaging Het
Supv3l1 C T 10: 62,268,136 (GRCm39) V570M probably damaging Het
Syt7 G T 19: 10,403,985 (GRCm39) V180L probably damaging Het
Tacc2 T A 7: 130,224,990 (GRCm39) H558Q probably benign Het
Tas2r120 T A 6: 132,634,446 (GRCm39) M176K possibly damaging Het
Tmem135 A T 7: 88,814,382 (GRCm39) probably null Het
Trim35 T C 14: 66,534,715 (GRCm39) V66A possibly damaging Het
Tspan12 A G 6: 21,772,698 (GRCm39) S284P probably benign Het
Ttll3 A T 6: 113,378,382 (GRCm39) K257* probably null Het
Uggt1 C A 1: 36,283,141 (GRCm39) probably benign Het
Vmn2r7 T A 3: 64,623,745 (GRCm39) I283F probably damaging Het
Wdfy2 T G 14: 63,192,334 (GRCm39) H363Q probably damaging Het
Wdr4 T A 17: 31,729,554 (GRCm39) K95N probably damaging Het
Zfp141 T C 7: 42,126,620 (GRCm39) N91S possibly damaging Het
Zfp383 C T 7: 29,614,695 (GRCm39) R317* probably null 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
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'- TTTAGGGGCTCAGAACCCTG -3'
(R):5'- AGAAGGCGGTTTATAGACACTTCAC -3'

Sequencing Primer
(F):5'- CCCTGTTCACTGTAGTCATAAGGAAG -3'
(R):5'- CTTCACAGATGGGAGCTACTC -3'
Posted On 2016-09-06