Incidental Mutation 'IGL00927:Cyb561d1'
ID27100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb561d1
Ensembl Gene ENSMUSG00000048796
Gene Namecytochrome b-561 domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL00927
Quality Score
Status
Chromosome3
Chromosomal Location108195687-108201212 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108199627 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 34 (L34P)
Ref Sequence ENSEMBL: ENSMUSP00000102265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065664] [ENSMUST00000102633] [ENSMUST00000106654] [ENSMUST00000106655] [ENSMUST00000117409] [ENSMUST00000117784] [ENSMUST00000119650]
Predicted Effect probably damaging
Transcript: ENSMUST00000065664
AA Change: L34P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070361
Gene: ENSMUSG00000048796
AA Change: L34P

DomainStartEndE-ValueType
B561 1 127 5.49e-40 SMART
transmembrane domain 138 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102633
SMART Domains Protein: ENSMUSP00000099693
Gene: ENSMUSG00000048997

DomainStartEndE-ValueType
low complexity region 55 63 N/A INTRINSIC
Pfam:SCA7 198 265 3.9e-29 PFAM
low complexity region 333 352 N/A INTRINSIC
low complexity region 356 363 N/A INTRINSIC
low complexity region 435 452 N/A INTRINSIC
low complexity region 515 532 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106654
AA Change: L34P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102265
Gene: ENSMUSG00000048796
AA Change: L34P

DomainStartEndE-ValueType
B561 1 127 5.49e-40 SMART
transmembrane domain 138 160 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106655
AA Change: L92P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102266
Gene: ENSMUSG00000048796
AA Change: L92P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
B561 54 185 4.96e-47 SMART
transmembrane domain 196 218 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117409
SMART Domains Protein: ENSMUSP00000112976
Gene: ENSMUSG00000048997

DomainStartEndE-ValueType
low complexity region 55 63 N/A INTRINSIC
Pfam:SCA7 164 235 1.2e-31 PFAM
low complexity region 301 320 N/A INTRINSIC
low complexity region 324 331 N/A INTRINSIC
low complexity region 403 420 N/A INTRINSIC
low complexity region 483 500 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117784
SMART Domains Protein: ENSMUSP00000114031
Gene: ENSMUSG00000048997

DomainStartEndE-ValueType
low complexity region 55 63 N/A INTRINSIC
Pfam:SCA7 196 267 1.6e-31 PFAM
low complexity region 333 352 N/A INTRINSIC
low complexity region 356 363 N/A INTRINSIC
low complexity region 435 452 N/A INTRINSIC
low complexity region 515 532 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119650
SMART Domains Protein: ENSMUSP00000113020
Gene: ENSMUSG00000048997

DomainStartEndE-ValueType
low complexity region 20 28 N/A INTRINSIC
Pfam:SCA7 161 232 1.2e-31 PFAM
low complexity region 298 317 N/A INTRINSIC
low complexity region 321 328 N/A INTRINSIC
low complexity region 400 417 N/A INTRINSIC
low complexity region 480 497 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155099
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,208,848 T92A probably damaging Het
Ankhd1 A G 18: 36,632,072 S1007G probably benign Het
Cabp4 A T 19: 4,139,407 S50R possibly damaging Het
Camp A T 9: 109,849,268 L56Q probably damaging Het
Cblb A G 16: 52,166,098 N568S probably benign Het
Ccr6 C A 17: 8,255,993 T10K probably benign Het
Chit1 T C 1: 134,145,254 F106S probably damaging Het
Dcun1d1 A T 3: 35,920,965 probably benign Het
Deup1 A G 9: 15,610,671 probably benign Het
Erich1 A G 8: 14,033,518 F184S probably damaging Het
Fmnl3 A G 15: 99,337,628 probably null Het
Grk2 T C 19: 4,287,954 N508S probably benign Het
Herc4 A G 10: 63,273,537 I184V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kif3b G A 2: 153,316,461 A61T possibly damaging Het
Kmt2d G A 15: 98,845,009 probably benign Het
Lrrc7 C A 3: 158,161,090 V1005L possibly damaging Het
Lrrtm1 A T 6: 77,244,063 M168L probably benign Het
Ndc1 C T 4: 107,384,780 probably benign Het
Nphs1 A G 7: 30,460,739 probably benign Het
Olfr692 A T 7: 105,369,247 Y298F probably damaging Het
Pbld2 T C 10: 63,071,955 V200A probably benign Het
Pcdhb21 A G 18: 37,514,553 Y245C probably damaging Het
Pcm1 A G 8: 41,287,881 T1055A probably damaging Het
Plcl2 C T 17: 50,606,920 S319L probably benign Het
Plekha8 C A 6: 54,629,837 Y372* probably null Het
Ralb T A 1: 119,471,776 N184I probably benign Het
Robo3 C T 9: 37,427,754 probably null Het
Slc41a1 T A 1: 131,839,176 L144H probably damaging Het
Smg1 C T 7: 118,140,632 G3364D probably damaging Het
Theg A G 10: 79,576,599 S329P probably damaging Het
Ttc26 T C 6: 38,382,220 probably benign Het
Vmn1r123 T A 7: 21,162,291 V36D possibly damaging Het
Zbtb7c T C 18: 76,145,850 S460P possibly damaging Het
Zscan30 T C 18: 23,971,777 noncoding transcript Het
Other mutations in Cyb561d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02996:Cyb561d1 APN 3 108199645 missense probably damaging 1.00
R0681:Cyb561d1 UTSW 3 108199267 missense probably benign 0.02
R2266:Cyb561d1 UTSW 3 108199404 missense probably damaging 1.00
R4518:Cyb561d1 UTSW 3 108199571 missense possibly damaging 0.95
R5657:Cyb561d1 UTSW 3 108200692 missense possibly damaging 0.62
R6980:Cyb561d1 UTSW 3 108200159 missense probably benign 0.02
R7171:Cyb561d1 UTSW 3 108199363 missense probably damaging 1.00
R7267:Cyb561d1 UTSW 3 108199313 missense probably benign
Posted On2013-04-17