Incidental Mutation 'IGL00162:Cyb561'
ID1118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb561
Ensembl Gene ENSMUSG00000019590
Gene Namecytochrome b-561
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00162
Quality Score
Status
Chromosome11
Chromosomal Location105933702-105953336 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105935836 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 197 (H197R)
Ref Sequence ENSEMBL: ENSMUSP00000121990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019734] [ENSMUST00000143251] [ENSMUST00000150563] [ENSMUST00000184086] [ENSMUST00000184269]
Predicted Effect probably damaging
Transcript: ENSMUST00000019734
AA Change: H159R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019734
Gene: ENSMUSG00000019590
AA Change: H159R

DomainStartEndE-ValueType
B561 51 178 5.74e-52 SMART
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143251
AA Change: H197R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121990
Gene: ENSMUSG00000019590
AA Change: H197R

DomainStartEndE-ValueType
B561 89 209 4.36e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146607
Predicted Effect probably benign
Transcript: ENSMUST00000150563
SMART Domains Protein: ENSMUSP00000138838
Gene: ENSMUSG00000019590

DomainStartEndE-ValueType
Pfam:Cytochrom_B561 51 99 5.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183493
Predicted Effect unknown
Transcript: ENSMUST00000184086
AA Change: T174A
SMART Domains Protein: ENSMUSP00000138931
Gene: ENSMUSG00000019590
AA Change: T174A

DomainStartEndE-ValueType
Pfam:Cytochrom_B561 51 178 1.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184269
SMART Domains Protein: ENSMUSP00000138889
Gene: ENSMUSG00000019590

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
Pfam:Cytochrom_B561 108 181 9.8e-28 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C330021F23Rik A G 8: 3,583,904 T2A probably benign Het
Cc2d1b T G 4: 108,627,378 L470R probably damaging Het
Cd96 A T 16: 46,071,799 N275K possibly damaging Het
Col22a1 A G 15: 71,860,958 probably null Het
Dlgap1 T C 17: 70,516,085 S22P probably benign Het
Dnajc6 A G 4: 101,508,089 probably benign Het
Fgf6 A T 6: 127,024,085 K185N possibly damaging Het
Fshr T C 17: 88,986,191 N353S probably damaging Het
Gabbr1 T A 17: 37,048,443 Y103* probably null Het
Gm7247 G A 14: 51,523,505 C177Y possibly damaging Het
Hikeshi A G 7: 89,935,781 F72L probably damaging Het
Ikzf4 T C 10: 128,634,547 E368G probably benign Het
Kdm3b A G 18: 34,809,409 E851G probably benign Het
Kif3b A G 2: 153,317,131 D284G probably damaging Het
Kyat3 G A 3: 142,734,474 A320T probably benign Het
Mok C T 12: 110,808,197 probably benign Het
Mrgpra3 A G 7: 47,589,519 F220L probably benign Het
Nr4a1 T C 15: 101,270,899 V272A probably damaging Het
Olfr1124 A G 2: 87,435,063 H192R probably benign Het
Olfr703 A G 7: 106,845,367 Y252C possibly damaging Het
Pikfyve T A 1: 65,260,121 probably null Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Ptpn12 T C 5: 21,029,850 E45G probably damaging Het
Ralgps1 A T 2: 33,137,682 *516R probably null Het
Senp6 A G 9: 80,116,610 D385G probably damaging Het
Siglech T C 7: 55,772,591 probably benign Het
Slit1 A G 19: 41,650,835 L212P probably damaging Het
Smchd1 T A 17: 71,465,673 probably benign Het
Snapc4 A T 2: 26,369,312 C609S probably benign Het
Strn3 T C 12: 51,661,196 T139A possibly damaging Het
Tcaf3 T C 6: 42,593,385 T478A probably benign Het
Tlr3 A G 8: 45,400,690 S198P probably damaging Het
Ttn C T 2: 76,890,479 probably benign Het
Vil1 G A 1: 74,423,875 E406K probably damaging Het
Zfp462 A G 4: 55,011,483 probably null Het
Zfyve9 A G 4: 108,642,107 V1338A possibly damaging Het
Other mutations in Cyb561
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3177:Cyb561 UTSW 11 105935787 unclassified probably benign
R4749:Cyb561 UTSW 11 105935882 missense probably benign 0.03
R5489:Cyb561 UTSW 11 105935523 missense probably benign 0.00
R5496:Cyb561 UTSW 11 105937719 missense probably damaging 1.00
R7135:Cyb561 UTSW 11 105935567 missense probably damaging 1.00
R7570:Cyb561 UTSW 11 105937644 missense probably damaging 0.98
R7787:Cyb561 UTSW 11 105937640 missense probably damaging 1.00
R7836:Cyb561 UTSW 11 105940109 missense probably benign 0.00
Posted On2011-07-12