Incidental Mutation 'IGL01890:Cyb561d2'
ID179239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb561d2
Ensembl Gene ENSMUSG00000037190
Gene Namecytochrome b-561 domain containing 2
SynonymsTsp10, 101F6 protein
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01890
Quality Score
Status
Chromosome9
Chromosomal Location107539007-107542193 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107541523 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 34 (V34A)
Ref Sequence ENSEMBL: ENSMUSP00000142243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010189] [ENSMUST00000010201] [ENSMUST00000041459] [ENSMUST00000194967] [ENSMUST00000195235] [ENSMUST00000195370]
Predicted Effect probably benign
Transcript: ENSMUST00000010189
SMART Domains Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
DUF1751 49 151 4.14e-41 SMART
transmembrane domain 164 183 N/A INTRINSIC
transmembrane domain 190 208 N/A INTRINSIC
transmembrane domain 223 245 N/A INTRINSIC
Blast:DUF1751 304 347 2e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000010201
SMART Domains Protein: ENSMUSP00000010201
Gene: ENSMUSG00000010057

DomainStartEndE-ValueType
Pfam:NPR2 5 279 1.7e-75 PFAM
Pfam:NPR2 269 373 1.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000041459
AA Change: V34A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190
AA Change: V34A

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
B561 47 178 8.01e-42 SMART
transmembrane domain 189 211 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193628
Predicted Effect unknown
Transcript: ENSMUST00000194344
AA Change: V1A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194906
Predicted Effect probably damaging
Transcript: ENSMUST00000194967
AA Change: V34A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000195235
AA Change: V34A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190
AA Change: V34A

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
B561 47 178 8.01e-42 SMART
transmembrane domain 189 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195370
SMART Domains Protein: ENSMUSP00000141746
Gene: ENSMUSG00000010057

DomainStartEndE-ValueType
Pfam:NPR2 2 156 1.2e-52 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A T 12: 80,184,868 V265E probably damaging Het
Anks1b A G 10: 90,644,527 I865V probably benign Het
Car5a G A 8: 121,923,610 A182V probably benign Het
Ccdc47 A G 11: 106,205,451 V249A probably damaging Het
Dmbt1 A G 7: 131,074,419 probably benign Het
Entpd6 G A 2: 150,770,692 D445N possibly damaging Het
Fastkd2 A G 1: 63,732,161 I225M probably benign Het
Flcn A G 11: 59,795,170 V424A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gpn3 A G 5: 122,381,265 M176V probably benign Het
Igkv12-38 C T 6: 69,943,405 C43Y probably damaging Het
Oas1h A G 5: 120,862,789 probably null Het
Rexo1 A T 10: 80,543,011 Y1064N possibly damaging Het
Skint1 G A 4: 112,010,681 G2R probably damaging Het
Slc4a9 G A 18: 36,529,707 A172T possibly damaging Het
Synpo2 A G 3: 123,112,497 S727P probably damaging Het
Tmem131 A T 1: 36,823,156 probably benign Het
Trpm3 G T 19: 22,711,719 R4L probably damaging Het
Upf1 A T 8: 70,334,230 V879E possibly damaging Het
Vmn1r194 A T 13: 22,244,606 Y131F probably benign Het
Vmn2r95 T A 17: 18,451,475 N491K probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Cyb561d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Cyb561d2 APN 9 107540289 critical splice donor site probably null
IGL02668:Cyb561d2 APN 9 107540172 missense probably benign 0.00
R1434:Cyb561d2 UTSW 9 107541643 unclassified probably benign
R1937:Cyb561d2 UTSW 9 107540316 missense probably damaging 1.00
R3416:Cyb561d2 UTSW 9 107540126 missense probably damaging 1.00
R4995:Cyb561d2 UTSW 9 107541548 missense probably damaging 1.00
R6538:Cyb561d2 UTSW 9 107540017 missense possibly damaging 0.86
R7564:Cyb561d2 UTSW 9 107541019 missense probably benign 0.02
R7719:Cyb561d2 UTSW 9 107540184 missense probably benign
R8117:Cyb561d2 UTSW 9 107541572 missense probably benign 0.43
Z1176:Cyb561d2 UTSW 9 107540296 missense probably damaging 1.00
Posted On2014-05-07