Incidental Mutation 'IGL02566:Cyb5d1'
ID298817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb5d1
Ensembl Gene ENSMUSG00000044795
Gene Namecytochrome b5 domain containing 1
SynonymsLOC327951
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02566
Quality Score
Status
Chromosome11
Chromosomal Location69391925-69395631 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69393768 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 186 (N186S)
Ref Sequence ENSEMBL: ENSMUSP00000059709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050140] [ENSMUST00000051620] [ENSMUST00000094077] [ENSMUST00000108660] [ENSMUST00000144531]
Predicted Effect probably benign
Transcript: ENSMUST00000050140
SMART Domains Protein: ENSMUSP00000055528
Gene: ENSMUSG00000045377

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051620
AA Change: N186S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795
AA Change: N186S

DomainStartEndE-ValueType
Cyt-b5 20 92 1.89e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082283
Predicted Effect probably benign
Transcript: ENSMUST00000094077
SMART Domains Protein: ENSMUSP00000091620
Gene: ENSMUSG00000018476

DomainStartEndE-ValueType
low complexity region 29 43 N/A INTRINSIC
low complexity region 54 71 N/A INTRINSIC
SCOP:d1elwa_ 91 152 9e-5 SMART
low complexity region 214 227 N/A INTRINSIC
low complexity region 239 270 N/A INTRINSIC
low complexity region 312 329 N/A INTRINSIC
low complexity region 333 345 N/A INTRINSIC
low complexity region 389 415 N/A INTRINSIC
low complexity region 461 487 N/A INTRINSIC
low complexity region 515 524 N/A INTRINSIC
low complexity region 544 577 N/A INTRINSIC
low complexity region 585 615 N/A INTRINSIC
low complexity region 643 650 N/A INTRINSIC
low complexity region 711 719 N/A INTRINSIC
low complexity region 743 766 N/A INTRINSIC
low complexity region 771 811 N/A INTRINSIC
low complexity region 840 879 N/A INTRINSIC
low complexity region 890 909 N/A INTRINSIC
low complexity region 950 989 N/A INTRINSIC
low complexity region 993 1011 N/A INTRINSIC
low complexity region 1044 1068 N/A INTRINSIC
low complexity region 1284 1317 N/A INTRINSIC
JmjC 1337 1500 1.61e-47 SMART
Blast:JmjC 1536 1600 1e-18 BLAST
Predicted Effect silent
Transcript: ENSMUST00000108660
SMART Domains Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795

DomainStartEndE-ValueType
Cyt-b5 20 92 1.89e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142126
Predicted Effect probably benign
Transcript: ENSMUST00000144531
SMART Domains Protein: ENSMUSP00000123155
Gene: ENSMUSG00000059278

DomainStartEndE-ValueType
low complexity region 18 36 N/A INTRINSIC
Sm 43 114 4.26e-15 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik C T 7: 118,752,832 A154V probably benign Het
Arl4d A G 11: 101,667,154 S169G probably damaging Het
Bbx A T 16: 50,223,240 probably benign Het
Blm A T 7: 80,474,196 M959K probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Elk3 A G 10: 93,265,463 L142P probably damaging Het
Gk5 G A 9: 96,129,046 D70N possibly damaging Het
Gm11492 T G 11: 87,567,642 S281A probably benign Het
Gpr84 T C 15: 103,308,723 D309G probably benign Het
Greb1l T C 18: 10,503,299 V450A probably damaging Het
Gucy1b1 A G 3: 82,058,329 F70S probably damaging Het
Jmjd4 T A 11: 59,455,054 M320K probably damaging Het
Map10 A G 8: 125,671,755 N629S probably benign Het
Nmd3 G T 3: 69,739,914 probably benign Het
Obscn G T 11: 59,068,147 T3359K probably damaging Het
Olfr31 C A 14: 14,328,138 T9K probably benign Het
Pkhd1l1 A G 15: 44,526,054 probably null Het
Plcb1 T C 2: 135,472,263 F1212L probably benign Het
Rabep1 A G 11: 70,917,714 S459G probably damaging Het
Slc26a1 A G 5: 108,673,799 S75P probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sult1d1 A T 5: 87,564,811 L58Q probably damaging Het
Tnrc18 A T 5: 142,772,313 probably benign Het
Zfp442 T C 2: 150,409,791 probably null Het
Other mutations in Cyb5d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Cyb5d1 APN 11 69393784 unclassified probably null
IGL01897:Cyb5d1 APN 11 69393761 missense probably benign
IGL02732:Cyb5d1 APN 11 69393809 splice site probably null
R0025:Cyb5d1 UTSW 11 69394966 splice site probably null
R0760:Cyb5d1 UTSW 11 69395173 missense probably benign
R1195:Cyb5d1 UTSW 11 69394971 critical splice donor site probably null
R1195:Cyb5d1 UTSW 11 69394971 critical splice donor site probably null
R1195:Cyb5d1 UTSW 11 69394971 critical splice donor site probably null
R1907:Cyb5d1 UTSW 11 69394740 missense probably benign 0.32
R2220:Cyb5d1 UTSW 11 69395045 missense probably benign 0.00
R3756:Cyb5d1 UTSW 11 69393832 missense probably damaging 1.00
R4757:Cyb5d1 UTSW 11 69394988 missense probably damaging 0.99
R4994:Cyb5d1 UTSW 11 69393771 missense probably damaging 1.00
R5509:Cyb5d1 UTSW 11 69393735 unclassified probably null
R7631:Cyb5d1 UTSW 11 69395039 missense possibly damaging 0.82
Posted On2015-04-16