Incidental Mutation 'R8333:Cyb5rl'
ID 644469
Institutional Source Beutler Lab
Gene Symbol Cyb5rl
Ensembl Gene ENSMUSG00000028621
Gene Name cytochrome b5 reductase-like
Synonyms 2810410C14Rik
MMRRC Submission 067861-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R8333 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 106924035-106945204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106925875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 19 (V19E)
Ref Sequence ENSEMBL: ENSMUSP00000030364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030364] [ENSMUST00000030365] [ENSMUST00000106756] [ENSMUST00000106758] [ENSMUST00000106760] [ENSMUST00000137269] [ENSMUST00000145324] [ENSMUST00000149453] [ENSMUST00000154283]
AlphaFold B1AS42
Predicted Effect probably benign
Transcript: ENSMUST00000030364
AA Change: V19E

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: V19E

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: V19E

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: V19E

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: V19E

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621
AA Change: V19E

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
SMART Domains Protein: ENSMUSP00000116114
Gene: ENSMUSG00000028621
AA Change: V12E

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
Predicted Effect probably benign
Transcript: ENSMUST00000145324
AA Change: V19E

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000122502
Gene: ENSMUSG00000028621
AA Change: V19E

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Oxidored-like 14 56 3.9e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000149453
AA Change: V19E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121581
Gene: ENSMUSG00000028621
AA Change: V19E

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: V19E

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000119366
Gene: ENSMUSG00000028621
AA Change: V19E

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Oxidored-like 14 56 4.5e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 T C 15: 97,143,166 (GRCm39) T419A probably damaging Het
Baiap2l1 A C 5: 144,217,691 (GRCm39) I298M possibly damaging Het
BC005624 G T 2: 30,863,748 (GRCm39) A245D probably benign Het
Cdh23 T A 10: 60,150,390 (GRCm39) I2527F probably damaging Het
Celsr1 T C 15: 85,915,615 (GRCm39) H786R possibly damaging Het
Cerkl A G 2: 79,168,922 (GRCm39) V427A possibly damaging Het
Cfap43 G T 19: 47,885,765 (GRCm39) C283* probably null Het
Chfr G A 5: 110,302,803 (GRCm39) A455T probably benign Het
Cldn13 T A 5: 134,943,850 (GRCm39) I112F possibly damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Dlgap2 T A 8: 14,828,295 (GRCm39) C568S probably benign Het
Ecm2 T C 13: 49,671,859 (GRCm39) L120P probably damaging Het
Gpr156 T C 16: 37,812,416 (GRCm39) S251P probably damaging Het
Gpr182 T C 10: 127,585,790 (GRCm39) N387S probably benign Het
Grid1 T C 14: 35,291,595 (GRCm39) V834A possibly damaging Het
Igkv8-34 T C 6: 70,021,337 (GRCm39) S42G probably benign Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lrrc19 T A 4: 94,527,587 (GRCm39) D208V probably benign Het
Lrrc9 C T 12: 72,528,317 (GRCm39) T872I probably benign Het
Macf1 T C 4: 123,279,245 (GRCm39) probably null Het
Mrpl13 A G 15: 55,420,679 (GRCm39) M1T probably null Het
Ncapg C T 5: 45,831,805 (GRCm39) T217I probably damaging Het
Nim1k G A 13: 120,174,022 (GRCm39) P291S probably damaging Het
Or8c11 G A 9: 38,289,912 (GRCm39) G239D probably damaging Het
Or8k31-ps1 A T 2: 86,356,415 (GRCm39) Y35* probably null Het
Padi6 T C 4: 140,464,687 (GRCm39) M181V probably damaging Het
Pax7 T A 4: 139,557,514 (GRCm39) I86F probably damaging Het
Pbk T A 14: 66,054,680 (GRCm39) Y271N probably benign Het
Rabgap1 C T 2: 37,385,710 (GRCm39) P492L probably benign Het
Rhno1 G T 6: 128,334,728 (GRCm39) D198E probably damaging Het
Scn2a A C 2: 65,514,191 (GRCm39) I292L probably benign Het
Slc40a1 T C 1: 45,950,439 (GRCm39) S338G probably damaging Het
Slc45a3 A G 1: 131,905,928 (GRCm39) Y317C probably damaging Het
Stard9 T A 2: 120,532,270 (GRCm39) S2842R probably benign Het
Tle2 C T 10: 81,413,518 (GRCm39) T119I probably damaging Het
Ttn C T 2: 76,553,938 (GRCm39) V30922I possibly damaging Het
Usp33 C T 3: 152,080,297 (GRCm39) P476L probably damaging Het
Wdr38 T C 2: 38,889,361 (GRCm39) Y51H probably 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
IGL02746:Cyb5rl APN 4 106,925,836 (GRCm39) missense probably benign 0.12
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
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
Predicted Primers PCR Primer
(F):5'- AGCCATCCCTGTCCCTATAG -3'
(R):5'- CCAGATAGATATGGCCACTCTGG -3'

Sequencing Primer
(F):5'- CTGTCCCTATAGCCTGGTGG -3'
(R):5'- TGGACTCCTCACCTGGC -3'
Posted On 2020-09-02