Incidental Mutation 'R0760:Cyb5d1'
ID 70057
Institutional Source Beutler Lab
Gene Symbol Cyb5d1
Ensembl Gene ENSMUSG00000044795
Gene Name cytochrome b5 domain containing 1
Synonyms LOC327951
MMRRC Submission 038940-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0760 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69282751-69286457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69285999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 41 (F41L)
Ref Sequence ENSEMBL: ENSMUSP00000104300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050140] [ENSMUST00000051620] [ENSMUST00000094077] [ENSMUST00000108660] [ENSMUST00000144531]
AlphaFold Q5NCY3
Predicted Effect probably benign
Transcript: ENSMUST00000050140
SMART Domains Protein: ENSMUSP00000055528
Gene: ENSMUSG00000045377

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051620
AA Change: F41L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795
AA Change: F41L

DomainStartEndE-ValueType
Cyt-b5 20 92 1.89e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082283
Predicted Effect probably benign
Transcript: ENSMUST00000094077
SMART Domains Protein: ENSMUSP00000091620
Gene: ENSMUSG00000018476

DomainStartEndE-ValueType
low complexity region 29 43 N/A INTRINSIC
low complexity region 54 71 N/A INTRINSIC
SCOP:d1elwa_ 91 152 9e-5 SMART
low complexity region 214 227 N/A INTRINSIC
low complexity region 239 270 N/A INTRINSIC
low complexity region 312 329 N/A INTRINSIC
low complexity region 333 345 N/A INTRINSIC
low complexity region 389 415 N/A INTRINSIC
low complexity region 461 487 N/A INTRINSIC
low complexity region 515 524 N/A INTRINSIC
low complexity region 544 577 N/A INTRINSIC
low complexity region 585 615 N/A INTRINSIC
low complexity region 643 650 N/A INTRINSIC
low complexity region 711 719 N/A INTRINSIC
low complexity region 743 766 N/A INTRINSIC
low complexity region 771 811 N/A INTRINSIC
low complexity region 840 879 N/A INTRINSIC
low complexity region 890 909 N/A INTRINSIC
low complexity region 950 989 N/A INTRINSIC
low complexity region 993 1011 N/A INTRINSIC
low complexity region 1044 1068 N/A INTRINSIC
low complexity region 1284 1317 N/A INTRINSIC
JmjC 1337 1500 1.61e-47 SMART
Blast:JmjC 1536 1600 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000108660
AA Change: F41L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795
AA Change: F41L

DomainStartEndE-ValueType
Cyt-b5 20 92 1.89e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134903
Predicted Effect probably benign
Transcript: ENSMUST00000144531
SMART Domains Protein: ENSMUSP00000123155
Gene: ENSMUSG00000059278

DomainStartEndE-ValueType
low complexity region 18 36 N/A INTRINSIC
Sm 43 114 4.26e-15 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.8%
Validation Efficiency 95% (39/41)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,324,661 (GRCm39) V120A possibly damaging Het
Adamts2 T C 11: 50,666,153 (GRCm39) V383A probably damaging Het
Alcam C T 16: 52,116,035 (GRCm39) V180M probably benign Het
Catip A G 1: 74,402,118 (GRCm39) probably benign Het
Ccm2l A C 2: 152,914,104 (GRCm39) N298T probably damaging Het
Ccni A G 5: 93,331,188 (GRCm39) V261A possibly damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Fbxw8 A G 5: 118,203,966 (GRCm39) probably null Het
Garin2 A G 12: 78,761,927 (GRCm39) D197G probably damaging Het
Gpaa1 T C 15: 76,216,119 (GRCm39) I33T probably benign Het
Grip1 T A 10: 119,853,983 (GRCm39) S512T probably damaging Het
Gtpbp1 G A 15: 79,603,356 (GRCm39) G140E probably damaging Het
Hspa4l T A 3: 40,739,155 (GRCm39) L681* probably null Het
Hspg2 A G 4: 137,239,660 (GRCm39) T456A probably damaging Het
Igkv3-1 A T 6: 70,681,119 (GRCm39) D106V probably damaging Het
Inhbc C T 10: 127,193,237 (GRCm39) G260S probably damaging Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Kif5c T C 2: 49,578,765 (GRCm39) I131T probably damaging Het
Kmt2c A G 5: 25,558,315 (GRCm39) Y1133H possibly damaging Het
Lama2 A G 10: 26,920,429 (GRCm39) probably null Het
N4bp1 A G 8: 87,573,540 (GRCm39) Y744H probably damaging Het
Or14j7 C T 17: 38,235,005 (GRCm39) Q183* probably null Het
Or1n2 A G 2: 36,797,233 (GRCm39) S92G probably benign Het
Ovol2 A G 2: 144,173,679 (GRCm39) probably null Het
Pappa2 C A 1: 158,544,531 (GRCm39) probably null Het
Pcdh10 G A 3: 45,335,005 (GRCm39) E440K probably benign Het
Pcsk4 A G 10: 80,161,775 (GRCm39) probably benign Het
Plcl2 A G 17: 50,915,802 (GRCm39) N937S possibly damaging Het
Ppp6r1 A G 7: 4,642,722 (GRCm39) F541L probably benign Het
Rad54l2 A G 9: 106,596,805 (GRCm39) probably null Het
Ranbp2 C T 10: 58,312,613 (GRCm39) P1111L possibly damaging Het
Rasal3 A G 17: 32,611,146 (GRCm39) F929S probably benign Het
Rnf111 A G 9: 70,336,960 (GRCm39) V909A probably damaging Het
Rnf168 A G 16: 32,117,204 (GRCm39) probably null Het
Slc2a5 T C 4: 150,224,124 (GRCm39) L244P probably benign Het
Snta1 T A 2: 154,222,860 (GRCm39) I288F probably damaging Het
Sv2a G A 3: 96,095,498 (GRCm39) C297Y probably damaging Het
Trim44 C T 2: 102,230,905 (GRCm39) probably benign Het
Uggt1 A T 1: 36,200,805 (GRCm39) I1164N possibly damaging Het
Other mutations in Cyb5d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Cyb5d1 APN 11 69,284,610 (GRCm39) splice site probably null
IGL01897:Cyb5d1 APN 11 69,284,587 (GRCm39) missense probably benign
IGL02566:Cyb5d1 APN 11 69,284,594 (GRCm39) missense probably benign 0.01
IGL02732:Cyb5d1 APN 11 69,284,635 (GRCm39) splice site probably null
R0025:Cyb5d1 UTSW 11 69,285,792 (GRCm39) splice site probably null
R1195:Cyb5d1 UTSW 11 69,285,797 (GRCm39) critical splice donor site probably null
R1195:Cyb5d1 UTSW 11 69,285,797 (GRCm39) critical splice donor site probably null
R1195:Cyb5d1 UTSW 11 69,285,797 (GRCm39) critical splice donor site probably null
R1907:Cyb5d1 UTSW 11 69,285,566 (GRCm39) missense probably benign 0.32
R2220:Cyb5d1 UTSW 11 69,285,871 (GRCm39) missense probably benign 0.00
R3756:Cyb5d1 UTSW 11 69,284,658 (GRCm39) missense probably damaging 1.00
R4757:Cyb5d1 UTSW 11 69,285,814 (GRCm39) missense probably damaging 0.99
R4994:Cyb5d1 UTSW 11 69,284,597 (GRCm39) missense probably damaging 1.00
R5509:Cyb5d1 UTSW 11 69,284,561 (GRCm39) splice site probably null
R7631:Cyb5d1 UTSW 11 69,285,865 (GRCm39) missense possibly damaging 0.82
R9348:Cyb5d1 UTSW 11 69,285,830 (GRCm39) missense probably damaging 0.99
R9395:Cyb5d1 UTSW 11 69,284,531 (GRCm39) missense probably benign 0.00
Z1186:Cyb5d1 UTSW 11 69,286,098 (GRCm39) missense probably benign 0.35
Z1186:Cyb5d1 UTSW 11 69,286,028 (GRCm39) missense probably benign
Z1187:Cyb5d1 UTSW 11 69,286,098 (GRCm39) missense probably benign 0.35
Z1187:Cyb5d1 UTSW 11 69,286,028 (GRCm39) missense probably benign
Z1188:Cyb5d1 UTSW 11 69,286,098 (GRCm39) missense probably benign 0.35
Z1188:Cyb5d1 UTSW 11 69,286,028 (GRCm39) missense probably benign
Z1189:Cyb5d1 UTSW 11 69,286,098 (GRCm39) missense probably benign 0.35
Z1189:Cyb5d1 UTSW 11 69,286,028 (GRCm39) missense probably benign
Z1190:Cyb5d1 UTSW 11 69,286,098 (GRCm39) missense probably benign 0.35
Z1190:Cyb5d1 UTSW 11 69,286,028 (GRCm39) missense probably benign
Z1191:Cyb5d1 UTSW 11 69,286,098 (GRCm39) missense probably benign 0.35
Z1191:Cyb5d1 UTSW 11 69,286,028 (GRCm39) missense probably benign
Z1192:Cyb5d1 UTSW 11 69,286,098 (GRCm39) missense probably benign 0.35
Z1192:Cyb5d1 UTSW 11 69,286,028 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GACCTCCAGGATGGGTTTCAACAG -3'
(R):5'- GGGACAATGGTTTCCATGTCAGCG -3'

Sequencing Primer
(F):5'- GGTTTCAACAGTAGGTCCCC -3'
(R):5'- GACAAACGCACTTCAGGTAGTTC -3'
Posted On 2013-09-30