Incidental Mutation 'IGL01105:Hephl1'
ID51928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hephl1
Ensembl Gene ENSMUSG00000031936
Gene Namehephaestin-like 1
SynonymsLOC244698, zyklopen, Zp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01105
Quality Score
Status
Chromosome9
Chromosomal Location15051841-15112108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 15089024 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 311 (T311A)
Ref Sequence ENSEMBL: ENSMUSP00000124518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159985]
Predicted Effect possibly damaging
Transcript: ENSMUST00000159985
AA Change: T311A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: T311A

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,972,059 V302E probably damaging Het
Ahcy T C 2: 155,067,361 D86G probably benign Het
Antxr2 G T 5: 98,004,943 probably benign Het
Cadps2 A G 6: 23,321,700 probably benign Het
Cdhr4 C T 9: 107,995,861 probably benign Het
Cdkn2c C T 4: 109,661,626 V44I probably damaging Het
Chodl T C 16: 78,941,263 Y40H probably damaging Het
Heatr3 A G 8: 88,161,893 D391G probably benign Het
Itpr1 G A 6: 108,381,333 S620N probably benign Het
Kank1 T A 19: 25,424,316 S1096T possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Krtap9-5 A G 11: 99,948,633 I53M unknown Het
Limk2 G A 11: 3,355,475 probably benign Het
Lrig2 G A 3: 104,464,168 R382* probably null Het
Mamdc2 T A 19: 23,331,002 D512V probably benign Het
March1 A T 8: 66,418,877 T353S possibly damaging Het
Mrc2 A G 11: 105,328,741 D312G probably damaging Het
Myh9 C T 15: 77,781,478 M627I probably benign Het
Nipa2 A T 7: 55,933,445 I184N probably damaging Het
Npy1r A G 8: 66,704,776 K246R probably benign Het
Pank4 C T 4: 154,972,465 probably benign Het
Pcdh12 T A 18: 38,275,347 E1035D probably damaging Het
Pias2 T A 18: 77,133,156 D362E probably damaging Het
Pkd1l3 G T 8: 109,662,241 V1872L possibly damaging Het
Postn T G 3: 54,362,710 I70S probably damaging Het
Ppef2 A G 5: 92,249,196 S107P possibly damaging Het
Prl3c1 T C 13: 27,202,425 V131A probably benign Het
Qsox2 A G 2: 26,209,685 V609A probably benign Het
Rhebl1 C A 15: 98,878,498 E139D probably benign Het
Ryr3 A G 2: 112,751,805 S2848P probably damaging Het
Scd2 T A 19: 44,298,058 I109N probably benign Het
Sim1 A G 10: 50,981,534 H460R probably damaging Het
Slc35f3 C A 8: 126,298,814 P10Q probably damaging Het
Slf1 T C 13: 77,100,912 probably benign Het
Stk10 G T 11: 32,577,740 V163L probably benign Het
Tssk6 A G 8: 69,902,812 T169A probably benign Het
Usp28 T A 9: 49,010,250 V256E probably damaging Het
Vmn2r77 A T 7: 86,811,664 I733F probably damaging Het
Other mutations in Hephl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Hephl1 APN 9 15067045 missense probably benign 0.06
IGL01731:Hephl1 APN 9 15069770 missense probably damaging 1.00
IGL02010:Hephl1 APN 9 15090556 nonsense probably null
IGL02112:Hephl1 APN 9 15081815 splice site probably benign
IGL02227:Hephl1 APN 9 15069793 missense probably damaging 1.00
IGL02490:Hephl1 APN 9 15053685 missense probably benign 0.06
IGL02960:Hephl1 APN 9 15084319 missense probably damaging 1.00
IGL03265:Hephl1 APN 9 15060959 missense probably benign 0.14
R0006:Hephl1 UTSW 9 15076764 missense probably benign 0.16
R0006:Hephl1 UTSW 9 15076764 missense probably benign 0.16
R0007:Hephl1 UTSW 9 15086175 missense possibly damaging 0.58
R0092:Hephl1 UTSW 9 15090603 frame shift probably null
R0421:Hephl1 UTSW 9 15059160 missense probably benign 0.05
R0448:Hephl1 UTSW 9 15076926 missense probably damaging 1.00
R0563:Hephl1 UTSW 9 15081945 missense probably damaging 1.00
R0602:Hephl1 UTSW 9 15089051 missense probably damaging 0.99
R0631:Hephl1 UTSW 9 15084524 missense probably benign 0.04
R0747:Hephl1 UTSW 9 15054001 splice site probably benign
R1123:Hephl1 UTSW 9 15080140 missense probably benign 0.00
R1386:Hephl1 UTSW 9 15076754 missense probably benign
R1711:Hephl1 UTSW 9 15059246 missense probably damaging 1.00
R1743:Hephl1 UTSW 9 15090068 missense probably damaging 0.99
R1833:Hephl1 UTSW 9 15076928 missense probably damaging 0.99
R1908:Hephl1 UTSW 9 15074124 nonsense probably null
R1918:Hephl1 UTSW 9 15076818 missense probably benign 0.16
R1938:Hephl1 UTSW 9 15053987 missense possibly damaging 0.88
R1986:Hephl1 UTSW 9 15054552 missense probably damaging 1.00
R3122:Hephl1 UTSW 9 15088969 missense possibly damaging 0.90
R3832:Hephl1 UTSW 9 15069748 missense probably damaging 1.00
R3833:Hephl1 UTSW 9 15069748 missense probably damaging 1.00
R4280:Hephl1 UTSW 9 15112034 missense probably benign 0.05
R4434:Hephl1 UTSW 9 15076796 missense probably damaging 0.99
R4790:Hephl1 UTSW 9 15059171 missense probably damaging 1.00
R4793:Hephl1 UTSW 9 15097990 missense probably benign 0.34
R4960:Hephl1 UTSW 9 15086290 missense probably damaging 1.00
R5125:Hephl1 UTSW 9 15086172 missense probably damaging 0.98
R5152:Hephl1 UTSW 9 15080185 missense probably damaging 1.00
R5178:Hephl1 UTSW 9 15086172 missense probably damaging 0.98
R5288:Hephl1 UTSW 9 15076854 missense possibly damaging 0.83
R5372:Hephl1 UTSW 9 15097899 nonsense probably null
R5377:Hephl1 UTSW 9 15069788 missense probably damaging 1.00
R5788:Hephl1 UTSW 9 15084283 missense possibly damaging 0.93
R5795:Hephl1 UTSW 9 15069760 missense probably damaging 0.99
R6210:Hephl1 UTSW 9 15090564 missense possibly damaging 0.57
R6303:Hephl1 UTSW 9 15090152 missense possibly damaging 0.69
R6394:Hephl1 UTSW 9 15074101 missense probably benign 0.00
R6653:Hephl1 UTSW 9 15081964 missense probably damaging 0.99
R6764:Hephl1 UTSW 9 15088921 missense possibly damaging 0.88
R7114:Hephl1 UTSW 9 15069815 missense probably damaging 0.96
R7143:Hephl1 UTSW 9 15060810 missense possibly damaging 0.80
R7404:Hephl1 UTSW 9 15069751 missense possibly damaging 0.84
R7446:Hephl1 UTSW 9 15098051 missense probably damaging 1.00
R7447:Hephl1 UTSW 9 15097882 critical splice donor site probably null
X0026:Hephl1 UTSW 9 15084228 critical splice donor site probably null
X0066:Hephl1 UTSW 9 15053668 missense probably benign 0.00
Z1088:Hephl1 UTSW 9 15053721 missense probably damaging 1.00
Posted On2013-06-21