Incidental Mutation 'IGL02746:Cyb5rl'
ID 306056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb5rl
Ensembl Gene ENSMUSG00000028621
Gene Name cytochrome b5 reductase-like
Synonyms 2810410C14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL02746
Quality Score
Status
Chromosome 4
Chromosomal Location 106924035-106945204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106925836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 6 (E6G)
Ref Sequence ENSEMBL: ENSMUSP00000119366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030364] [ENSMUST00000030365] [ENSMUST00000106756] [ENSMUST00000106758] [ENSMUST00000106760] [ENSMUST00000149453] [ENSMUST00000154283] [ENSMUST00000145324] [ENSMUST00000137269]
AlphaFold B1AS42
Predicted Effect probably benign
Transcript: ENSMUST00000030364
AA Change: E6G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: E6G

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Oxidored-like 15 56 1e-10 PFAM
Pfam:FAD_binding_6 80 156 2.3e-11 PFAM
Pfam:NAD_binding_1 152 266 1.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030365
SMART Domains Protein: ENSMUSP00000030365
Gene: ENSMUSG00000028622

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Pfam:PDCD9 292 420 6.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106756
SMART Domains Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621

DomainStartEndE-ValueType
Pfam:FAD_binding_6 20 117 4.7e-23 PFAM
Pfam:NAD_binding_1 127 241 3.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106758
AA Change: E6G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: E6G

DomainStartEndE-ValueType
Pfam:Oxidored-like 10 55 1.7e-15 PFAM
Pfam:FAD_binding_6 80 177 8.2e-25 PFAM
Pfam:NAD_binding_1 187 301 8.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106760
AA Change: E6G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621
AA Change: E6G

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Oxidored-like 15 56 2.5e-14 PFAM
Pfam:FAD_binding_6 80 156 3.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125157
Predicted Effect unknown
Transcript: ENSMUST00000149453
AA Change: E6G
SMART Domains Protein: ENSMUSP00000121581
Gene: ENSMUSG00000028621
AA Change: E6G

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Oxidored-like 14 56 5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154283
AA Change: E6G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119366
Gene: ENSMUSG00000028621
AA Change: E6G

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Oxidored-like 14 56 4.5e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156406
Predicted Effect probably benign
Transcript: ENSMUST00000145324
AA Change: E6G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122502
Gene: ENSMUSG00000028621
AA Change: E6G

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Oxidored-like 14 56 3.9e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125397
Predicted Effect probably benign
Transcript: ENSMUST00000126207
SMART Domains Protein: ENSMUSP00000116114
Gene: ENSMUSG00000028621

DomainStartEndE-ValueType
Pfam:Oxidored-like 4 49 1.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137269
SMART Domains Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621

DomainStartEndE-ValueType
Pfam:FAD_binding_6 13 110 7.3e-24 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,646,462 (GRCm39) probably benign Het
Adck5 A T 15: 76,473,354 (GRCm39) M68L probably benign Het
Aox3 T C 1: 58,222,701 (GRCm39) S1165P possibly damaging Het
Arhgap23 A G 11: 97,345,030 (GRCm39) probably benign Het
Brdt T C 5: 107,518,190 (GRCm39) L771P probably benign Het
Ccdc134 T A 15: 82,015,938 (GRCm39) probably benign Het
Cdc42bpa T A 1: 179,939,312 (GRCm39) D41E possibly damaging Het
Cdkn2aipnl A G 11: 51,861,047 (GRCm39) T106A probably damaging Het
Cox10 G A 11: 63,855,357 (GRCm39) probably benign Het
Cubn C A 2: 13,449,851 (GRCm39) C891F probably damaging Het
Dhrs2 T C 14: 55,478,628 (GRCm39) S258P probably damaging Het
Dnah10 T C 5: 124,807,150 (GRCm39) L145P possibly damaging Het
Epc1 A G 18: 6,454,317 (GRCm39) I129T probably benign Het
Gkn3 A G 6: 87,364,339 (GRCm39) probably benign Het
Gls2 A G 10: 128,036,825 (GRCm39) D202G probably damaging Het
Gm45844 A G 7: 7,243,178 (GRCm39) F24S probably damaging Het
Golph3 C T 15: 12,349,501 (GRCm39) R174W probably damaging Het
Gpatch4 A C 3: 87,961,698 (GRCm39) E119A possibly damaging Het
Hemgn A G 4: 46,400,740 (GRCm39) L40P probably damaging Het
Ifi27l2b A T 12: 103,417,493 (GRCm39) D231E unknown Het
Klf12 T C 14: 100,137,656 (GRCm39) I297V probably benign Het
Lzts3 T C 2: 130,478,261 (GRCm39) N165S probably damaging Het
Nlrp4e G A 7: 23,021,264 (GRCm39) V584I probably benign Het
Npas4 T C 19: 5,036,695 (GRCm39) T490A probably damaging Het
Pikfyve C A 1: 65,273,431 (GRCm39) H615Q probably damaging Het
Plce1 T A 19: 38,686,916 (GRCm39) L608Q probably damaging Het
Pou2f3 T G 9: 43,058,143 (GRCm39) Q67H probably benign Het
Rev3l T C 10: 39,700,585 (GRCm39) L1694P probably damaging Het
Rpl4 A G 9: 64,082,932 (GRCm39) T117A probably benign Het
Scn5a T C 9: 119,379,703 (GRCm39) N194D probably damaging Het
Sec16b T A 1: 157,373,859 (GRCm39) probably benign Het
Slc12a5 A T 2: 164,816,836 (GRCm39) M97L probably benign Het
Stard13 A G 5: 150,970,322 (GRCm39) probably benign Het
Stau1 A C 2: 166,796,818 (GRCm39) probably null Het
Thg1l A T 11: 45,839,054 (GRCm39) C219* probably null Het
Togaram1 G T 12: 65,013,270 (GRCm39) E174* probably null Het
Vmn1r237 T C 17: 21,534,480 (GRCm39) S68P possibly damaging Het
Vmn2r3 A T 3: 64,167,239 (GRCm39) S631T possibly damaging Het
Other mutations in Cyb5rl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Cyb5rl APN 4 106,941,493 (GRCm39) missense probably benign 0.21
IGL01350:Cyb5rl APN 4 106,941,409 (GRCm39) missense possibly damaging 0.77
IGL02418:Cyb5rl APN 4 106,928,182 (GRCm39) missense probably damaging 1.00
IGL03088:Cyb5rl APN 4 106,938,225 (GRCm39) nonsense probably null
IGL03279:Cyb5rl APN 4 106,941,325 (GRCm39) missense possibly damaging 0.95
R1301:Cyb5rl UTSW 4 106,938,104 (GRCm39) missense probably damaging 1.00
R1731:Cyb5rl UTSW 4 106,938,110 (GRCm39) missense probably damaging 1.00
R2091:Cyb5rl UTSW 4 106,928,203 (GRCm39) missense probably damaging 1.00
R2165:Cyb5rl UTSW 4 106,925,880 (GRCm39) missense probably damaging 1.00
R2504:Cyb5rl UTSW 4 106,938,142 (GRCm39) missense probably benign 0.01
R4223:Cyb5rl UTSW 4 106,938,185 (GRCm39) missense probably damaging 0.97
R4851:Cyb5rl UTSW 4 106,941,510 (GRCm39) missense probably benign 0.39
R4964:Cyb5rl UTSW 4 106,926,329 (GRCm39) intron probably benign
R5797:Cyb5rl UTSW 4 106,941,404 (GRCm39) missense possibly damaging 0.69
R6575:Cyb5rl UTSW 4 106,942,550 (GRCm39) missense probably benign 0.20
R6688:Cyb5rl UTSW 4 106,931,102 (GRCm39) missense probably damaging 0.99
R6986:Cyb5rl UTSW 4 106,928,073 (GRCm39) missense probably benign 0.18
R7097:Cyb5rl UTSW 4 106,944,513 (GRCm39) missense unknown
R7139:Cyb5rl UTSW 4 106,928,208 (GRCm39) missense probably benign 0.35
R7293:Cyb5rl UTSW 4 106,938,143 (GRCm39) missense probably damaging 0.98
R7920:Cyb5rl UTSW 4 106,928,205 (GRCm39) missense possibly damaging 0.60
R8234:Cyb5rl UTSW 4 106,925,935 (GRCm39) missense probably damaging 1.00
R8333:Cyb5rl UTSW 4 106,925,875 (GRCm39) missense probably benign 0.03
R8367:Cyb5rl UTSW 4 106,928,146 (GRCm39) missense probably benign 0.00
R8546:Cyb5rl UTSW 4 106,925,923 (GRCm39) missense probably damaging 1.00
R8998:Cyb5rl UTSW 4 106,938,157 (GRCm39) missense possibly damaging 0.73
Posted On 2015-04-16