Incidental Mutation 'IGL01890:Cyb561d2'
ID 179239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb561d2
Ensembl Gene ENSMUSG00000037190
Gene Name cytochrome b-561 domain containing 2
Synonyms 101F6 protein, Tsp10
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01890
Quality Score
Status
Chromosome 9
Chromosomal Location 107416210-107419392 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107418722 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9WUE3
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: 80,231,642 (GRCm39) V265E probably damaging Het
Anks1b A G 10: 90,480,389 (GRCm39) I865V probably benign Het
Car5a G A 8: 122,650,349 (GRCm39) A182V probably benign Het
Ccdc47 A G 11: 106,096,277 (GRCm39) V249A probably damaging Het
Dmbt1 A G 7: 130,676,149 (GRCm39) probably benign Het
Entpd6 G A 2: 150,612,612 (GRCm39) D445N possibly damaging Het
Fastkd2 A G 1: 63,771,320 (GRCm39) I225M probably benign Het
Flcn A G 11: 59,685,996 (GRCm39) V424A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpn3 A G 5: 122,519,328 (GRCm39) M176V probably benign Het
Igkv12-38 C T 6: 69,920,389 (GRCm39) C43Y probably damaging Het
Oas1h A G 5: 121,000,852 (GRCm39) probably null Het
Rexo1 A T 10: 80,378,845 (GRCm39) Y1064N possibly damaging Het
Skint1 G A 4: 111,867,878 (GRCm39) G2R probably damaging Het
Slc4a9 G A 18: 36,662,760 (GRCm39) A172T possibly damaging Het
Synpo2 A G 3: 122,906,146 (GRCm39) S727P probably damaging Het
Tmem131 A T 1: 36,862,237 (GRCm39) probably benign Het
Trpm3 G T 19: 22,689,083 (GRCm39) R4L probably damaging Het
Upf1 A T 8: 70,786,880 (GRCm39) V879E possibly damaging Het
Vmn1r194 A T 13: 22,428,776 (GRCm39) Y131F probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r95 T A 17: 18,671,737 (GRCm39) N491K probably damaging Het
Other mutations in Cyb561d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Cyb561d2 APN 9 107,417,488 (GRCm39) critical splice donor site probably null
IGL02668:Cyb561d2 APN 9 107,417,371 (GRCm39) missense probably benign 0.00
R1434:Cyb561d2 UTSW 9 107,418,842 (GRCm39) unclassified probably benign
R1937:Cyb561d2 UTSW 9 107,417,515 (GRCm39) missense probably damaging 1.00
R3416:Cyb561d2 UTSW 9 107,417,325 (GRCm39) missense probably damaging 1.00
R4995:Cyb561d2 UTSW 9 107,418,747 (GRCm39) missense probably damaging 1.00
R6538:Cyb561d2 UTSW 9 107,417,216 (GRCm39) missense possibly damaging 0.86
R7564:Cyb561d2 UTSW 9 107,418,218 (GRCm39) missense probably benign 0.02
R7719:Cyb561d2 UTSW 9 107,417,383 (GRCm39) missense probably benign
R8117:Cyb561d2 UTSW 9 107,418,771 (GRCm39) missense probably benign 0.43
R8773:Cyb561d2 UTSW 9 107,417,583 (GRCm39) missense probably damaging 1.00
Z1176:Cyb561d2 UTSW 9 107,417,495 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07