Incidental Mutation 'IGL01109:Cyb5d1'
ID52313
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 #IGL01109
Quality Score
Status
Chromosome11
Chromosomal Location69391925-69395631 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 69393784 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123155 (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: D181Y

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795
AA Change: D181Y

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 probably benign
Transcript: ENSMUST00000108660
AA Change: R158L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795
AA Change: R158L

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 null
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 T C 18: 65,307,140 D861G probably benign Het
Anapc4 A G 5: 52,848,628 T326A probably damaging Het
Atm T C 9: 53,490,293 I1425M probably damaging Het
Bend5 T C 4: 111,448,641 L294P probably damaging Het
Casp7 T A 19: 56,436,745 D193E probably benign Het
Cdc16 T C 8: 13,764,606 V130A probably benign Het
Chl1 T G 6: 103,715,393 Y331D probably damaging Het
Cntn1 C A 15: 92,339,577 Y1017* probably null Het
Cyp2c38 A G 19: 39,462,885 probably null Het
Dzip3 T C 16: 48,929,674 M827V probably benign Het
Ehd1 T A 19: 6,298,147 M385K possibly damaging Het
Eya3 C A 4: 132,693,000 Y52* probably null Het
Itsn1 C T 16: 91,806,201 probably benign Het
Ktn1 A T 14: 47,714,721 N983I probably damaging Het
Lrrk2 T A 15: 91,738,832 N1068K probably damaging Het
Mup6 T A 4: 60,006,001 N156K probably damaging Het
Nedd9 T A 13: 41,316,234 H481L probably benign Het
Obscn T C 11: 59,133,762 D484G probably damaging Het
Ogdh T C 11: 6,348,790 V674A probably damaging Het
Olfr1079 T A 2: 86,538,330 D195V probably benign Het
Olfr1166 T C 2: 88,124,679 Q102R probably damaging Het
Olfr1197 T C 2: 88,729,065 D178G probably damaging Het
Olfr1278 G A 2: 111,292,519 D84N probably benign Het
Olfr1467 A G 19: 13,364,699 I24V probably benign Het
Olfr968 T C 9: 39,771,997 M268V probably benign Het
Osbpl6 A G 2: 76,549,527 T154A probably damaging Het
P2rx1 T C 11: 73,008,215 V84A probably damaging Het
Pcdh11x G A X: 120,400,914 V685I possibly damaging Het
Ppp4r3b T A 11: 29,188,288 V212E probably damaging Het
Prune2 A G 19: 17,123,879 D2249G probably benign Het
Slc5a8 T A 10: 88,906,392 S317T possibly damaging Het
Ssc5d T A 7: 4,937,112 L822* probably null Het
Swt1 A G 1: 151,411,139 S201P probably damaging Het
Tet1 T A 10: 62,879,774 M81L probably benign Het
Tex9 T A 9: 72,488,067 N39I probably damaging Het
Ttc4 T C 4: 106,663,163 Y378C probably damaging Het
Ubap2 T C 4: 41,195,155 N1131S probably damaging Het
Ugt2b35 C T 5: 87,008,306 T419I probably damaging Het
Ugt3a2 T G 15: 9,367,268 F366V probably damaging Het
Zfp324 A G 7: 12,969,435 T95A probably benign Het
Other mutations in Cyb5d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01897:Cyb5d1 APN 11 69393761 missense probably benign
IGL02566:Cyb5d1 APN 11 69393768 missense probably benign 0.01
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
Posted On2013-06-21