Incidental Mutation 'RF016:Cyb5r4'
ID 603562
Institutional Source Beutler Lab
Gene Symbol Cyb5r4
Ensembl Gene ENSMUSG00000032872
Gene Name cytochrome b5 reductase 4
Synonyms Ncb5or, 2810034J18Rik, B5+B5R, b5/b5r
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF016 (G1)
Quality Score 217.468
Status Not validated
Chromosome 9
Chromosomal Location 86904082-86959827 bp(+) (GRCm39)
Type of Mutation small insertion (8 aa in frame mutation)
DNA Base Change (assembly) CCCAGGGA to CCCAGGGATGTGACAGACACACTGACCAGGGA at 86922494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168529]
AlphaFold Q3TDX8
Predicted Effect probably benign
Transcript: ENSMUST00000168529
SMART Domains Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
Cyt-b5 57 130 2.56e-26 SMART
Pfam:CS 175 253 4.1e-16 PFAM
Pfam:FAD_binding_6 284 391 4.1e-22 PFAM
Pfam:NAD_binding_1 402 508 4.7e-18 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Homozygous null mice exhibit defects in glucose homeostasis and pancreatic abnormalities consistent with symptoms of diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik TGCTGTGGC TGCTGTGGCGGCTGTGGC 1: 82,891,298 (GRCm39) probably benign Het
Abi3bp GCCCACGACCC GCCCACGACCCACGACCC 16: 56,447,950 (GRCm39) probably null Het
Amer3 A G 1: 34,626,201 (GRCm39) I147V probably damaging Het
Ankhd1 GGCGGC GGCGGCAGCGGC 18: 36,693,962 (GRCm39) probably benign Het
Ankhd1 GCGGCG GCGGCGACGGCG 18: 36,693,963 (GRCm39) probably benign Het
Ankzf1 G A 1: 75,172,477 (GRCm39) R259H probably damaging Het
Apol9b T C 15: 77,619,714 (GRCm39) V170A probably benign Het
Asb3 A G 11: 31,011,407 (GRCm39) I267M possibly damaging Het
Baz2a A G 10: 127,961,185 (GRCm39) E1636G probably benign Het
Birc6 G T 17: 74,996,319 (GRCm39) V4513F probably damaging Het
Blm CCTCCTCC CCTCCTCCTCCTACTCCTCC 7: 80,162,674 (GRCm39) probably null Het
Ccdc113 G A 8: 96,264,733 (GRCm39) R81H probably benign Het
Ccdc27 T C 4: 154,120,567 (GRCm39) R410G probably benign Het
Cdhr5 A G 7: 140,852,097 (GRCm39) V435A possibly damaging Het
Cercam T C 2: 29,759,317 (GRCm39) S15P unknown Het
Cntrl T C 2: 35,009,998 (GRCm39) V224A probably benign Het
Comtd1 T A 14: 21,898,664 (GRCm39) Q56L probably benign Het
Cul9 CCT CCTACT 17: 46,811,789 (GRCm39) probably null Het
Cyld T A 8: 89,432,069 (GRCm39) Y22* probably null Het
Dbt T C 3: 116,333,363 (GRCm39) Y278H probably damaging Het
Ddb1 A G 19: 10,605,222 (GRCm39) H1070R probably damaging Het
Dek G T 13: 47,251,662 (GRCm39) S248* probably null Het
Dixdc1 T C 9: 50,604,941 (GRCm39) T300A probably benign Het
Dusp8 A T 7: 141,636,589 (GRCm39) S334T probably benign Het
Efhd2 CCGCCG CCGCCGACGCCG 4: 141,602,067 (GRCm39) probably benign Het
Ehbp1 T C 11: 22,096,646 (GRCm39) N306S probably benign Het
Fcer1a T C 1: 173,053,086 (GRCm39) I37V possibly damaging Het
Fgfr2 G T 7: 129,779,410 (GRCm39) Q639K probably benign Het
Ftdc1 T A 16: 58,437,230 (GRCm39) N26I probably damaging Het
Gab3 CTT CTTATT X: 74,043,591 (GRCm39) probably null Het
Gins4 T C 8: 23,722,626 (GRCm39) M98V probably benign Het
Gm8369 GTGTGTGT GTGTGTGTTTGTGTGT 19: 11,489,118 (GRCm39) probably null Het
Grik1 G A 16: 87,831,074 (GRCm39) S232L Het
Gsg1l A G 7: 125,619,794 (GRCm39) probably null Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
H2-DMb1 A T 17: 34,376,360 (GRCm39) S160C probably damaging Het
Hsdl2 GCAGCCACAGCTGCAG GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG 4: 59,610,643 (GRCm39) probably benign Het
Iqcf4 TTTCCTTTTCCTTTT TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT 9: 106,447,808 (GRCm39) probably benign Het
Jag1 T A 2: 136,938,176 (GRCm39) T275S probably benign Het
Klhdc2 T A 12: 69,350,660 (GRCm39) I158K probably damaging Het
Krtap28-10 TCCC TCCCGCACCC 1: 83,019,844 (GRCm39) probably benign Het
Lrp2 T A 2: 69,339,549 (GRCm39) M1121L probably benign Het
M6pr C T 6: 122,292,124 (GRCm39) A152V probably damaging Het
Mapkapk5 T C 5: 121,671,379 (GRCm39) Y218C probably damaging Het
Mkrn1 C T 6: 39,396,925 (GRCm39) V26I Het
Mro CA CAAACTCGGA 18: 74,003,035 (GRCm39) probably null Het
Mrpl3 T C 9: 104,952,452 (GRCm39) V303A probably benign Het
Nefh CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,022 (GRCm39) probably benign Het
Nefh TCACCTGGGGACT TCACCTGGGGACTCGGCCCCACCTGGGGACT 11: 4,891,023 (GRCm39) probably benign Het
Nid2 GGCTAACACCGC GGC 14: 19,801,431 (GRCm39) probably benign Het
Nusap1 CAAGCTGAGA CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA 2: 119,458,082 (GRCm39) probably benign Het
Or10n7-ps1 A ATAGG 9: 39,598,050 (GRCm39) probably null Het
Or6d12 G T 6: 116,493,004 (GRCm39) A89S probably benign Het
Ovol1 A G 19: 5,603,640 (GRCm39) V87A probably benign Het
Pdpk1 T A 17: 24,312,255 (GRCm39) E290D probably benign Het
Pkd1l3 T A 8: 110,350,174 (GRCm39) S340T probably benign Het
Pknox2 ACACACACACACACACTCAC ACAC 9: 36,820,905 (GRCm39) probably benign Het
Pou3f1 GC GCGGCGCC 4: 124,551,602 (GRCm39) probably benign Het
Prp2 AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC AGAGACCCCCTCAAGGCCCACCACC 6: 132,577,475 (GRCm39) probably benign Het
Prpf6 A G 2: 181,273,869 (GRCm39) M338V probably benign Het
Psg28 G T 7: 18,156,847 (GRCm39) L463I probably damaging Het
Ptprd T C 4: 76,046,892 (GRCm39) D211G probably benign Het
Pus1 T C 5: 110,924,424 (GRCm39) H160R not run Het
Ranbp17 T C 11: 33,279,511 (GRCm39) T582A probably damaging Het
Rasa1 G A 13: 85,371,607 (GRCm39) T878I possibly damaging Het
Rbm20 A G 19: 53,802,163 (GRCm39) T224A probably benign Het
Scgb1b12 A T 7: 32,033,920 (GRCm39) N60I probably damaging Het
Sh3bp4 T C 1: 89,072,744 (GRCm39) S531P probably benign Het
Sh3pxd2b TGCCTG TGCCTGCGCCTG 11: 32,373,053 (GRCm39) probably benign Het
Snrnp200 T C 2: 127,072,476 (GRCm39) L1291P probably damaging Het
Spmap2l CTCCCCAGTCCCGCAAGGCCAG CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG 5: 77,164,255 (GRCm39) probably benign Het
Sppl2a C T 2: 126,769,694 (GRCm39) R54Q probably benign Het
Sulf2 A T 2: 165,924,523 (GRCm39) L521Q probably benign Het
Supv3l1 C A 10: 62,273,287 (GRCm39) V317F possibly damaging Het
Tcof1 TCC TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC 18: 60,966,647 (GRCm39) probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,138 (GRCm39) probably benign Het
Unc13b CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,347 (GRCm39) probably benign Het
Unc13b AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,350 (GRCm39) probably benign Het
Usp38 A G 8: 81,740,522 (GRCm39) S182P probably benign Het
Vmn2r24 T C 6: 123,781,174 (GRCm39) V460A probably benign Het
Wdr97 A T 15: 76,240,172 (GRCm39) I331F Het
Zfp598 CAACCAC CAACCACAACCAC 17: 24,899,745 (GRCm39) probably benign Het
Other mutations in Cyb5r4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01833:Cyb5r4 APN 9 86,941,505 (GRCm39) critical splice donor site probably null
cello UTSW 9 86,911,591 (GRCm39) nonsense probably null
viol UTSW 9 86,941,130 (GRCm39) critical splice donor site probably null
PIT1430001:Cyb5r4 UTSW 9 86,920,791 (GRCm39) missense probably benign
R0040:Cyb5r4 UTSW 9 86,948,795 (GRCm39) splice site probably null
R0373:Cyb5r4 UTSW 9 86,909,093 (GRCm39) missense probably damaging 0.99
R0755:Cyb5r4 UTSW 9 86,911,625 (GRCm39) missense probably damaging 1.00
R1381:Cyb5r4 UTSW 9 86,904,286 (GRCm39) missense probably benign 0.03
R1488:Cyb5r4 UTSW 9 86,911,591 (GRCm39) nonsense probably null
R1510:Cyb5r4 UTSW 9 86,948,696 (GRCm39) intron probably benign
R1856:Cyb5r4 UTSW 9 86,904,262 (GRCm39) missense possibly damaging 0.61
R1857:Cyb5r4 UTSW 9 86,923,332 (GRCm39) missense probably benign 0.00
R1858:Cyb5r4 UTSW 9 86,923,332 (GRCm39) missense probably benign 0.00
R1870:Cyb5r4 UTSW 9 86,922,462 (GRCm39) missense probably benign 0.00
R1876:Cyb5r4 UTSW 9 86,937,867 (GRCm39) missense probably damaging 1.00
R1959:Cyb5r4 UTSW 9 86,937,902 (GRCm39) missense possibly damaging 0.82
R2036:Cyb5r4 UTSW 9 86,924,932 (GRCm39) splice site probably benign
R2895:Cyb5r4 UTSW 9 86,922,452 (GRCm39) nonsense probably null
R4226:Cyb5r4 UTSW 9 86,939,282 (GRCm39) missense probably damaging 0.99
R4655:Cyb5r4 UTSW 9 86,941,482 (GRCm39) missense probably benign 0.01
R4971:Cyb5r4 UTSW 9 86,939,224 (GRCm39) missense possibly damaging 0.80
R5038:Cyb5r4 UTSW 9 86,941,130 (GRCm39) critical splice donor site probably null
R5155:Cyb5r4 UTSW 9 86,922,456 (GRCm39) missense probably benign 0.08
R5187:Cyb5r4 UTSW 9 86,909,001 (GRCm39) missense possibly damaging 0.92
R5654:Cyb5r4 UTSW 9 86,929,533 (GRCm39) missense probably damaging 0.98
R5659:Cyb5r4 UTSW 9 86,937,881 (GRCm39) missense probably benign 0.22
R5926:Cyb5r4 UTSW 9 86,939,314 (GRCm39) missense probably benign 0.04
R6083:Cyb5r4 UTSW 9 86,939,221 (GRCm39) missense probably damaging 1.00
R6610:Cyb5r4 UTSW 9 86,941,470 (GRCm39) missense probably benign
R7311:Cyb5r4 UTSW 9 86,937,835 (GRCm39) missense probably damaging 1.00
R7662:Cyb5r4 UTSW 9 86,909,091 (GRCm39) missense possibly damaging 0.83
R7748:Cyb5r4 UTSW 9 86,914,434 (GRCm39) missense probably damaging 1.00
R8171:Cyb5r4 UTSW 9 86,924,863 (GRCm39) missense possibly damaging 0.81
R8253:Cyb5r4 UTSW 9 86,941,108 (GRCm39) missense probably damaging 1.00
R8369:Cyb5r4 UTSW 9 86,922,486 (GRCm39) missense probably benign 0.00
R8816:Cyb5r4 UTSW 9 86,904,286 (GRCm39) missense probably benign 0.31
RF001:Cyb5r4 UTSW 9 86,922,469 (GRCm39) small insertion probably benign
RF006:Cyb5r4 UTSW 9 86,922,494 (GRCm39) small insertion probably benign
RF006:Cyb5r4 UTSW 9 86,922,478 (GRCm39) small insertion probably benign
RF013:Cyb5r4 UTSW 9 86,922,485 (GRCm39) small insertion probably benign
RF014:Cyb5r4 UTSW 9 86,922,468 (GRCm39) small insertion probably benign
RF015:Cyb5r4 UTSW 9 86,922,491 (GRCm39) small insertion probably benign
RF015:Cyb5r4 UTSW 9 86,922,485 (GRCm39) small insertion probably benign
RF016:Cyb5r4 UTSW 9 86,922,497 (GRCm39) small insertion probably benign
RF016:Cyb5r4 UTSW 9 86,922,478 (GRCm39) small insertion probably benign
RF024:Cyb5r4 UTSW 9 86,922,488 (GRCm39) small insertion probably benign
RF025:Cyb5r4 UTSW 9 86,922,497 (GRCm39) small insertion probably benign
RF026:Cyb5r4 UTSW 9 86,922,486 (GRCm39) small insertion probably benign
RF027:Cyb5r4 UTSW 9 86,922,484 (GRCm39) small insertion probably benign
RF029:Cyb5r4 UTSW 9 86,922,495 (GRCm39) small insertion probably benign
RF029:Cyb5r4 UTSW 9 86,922,483 (GRCm39) small insertion probably benign
RF030:Cyb5r4 UTSW 9 86,922,468 (GRCm39) small insertion probably benign
RF030:Cyb5r4 UTSW 9 86,922,462 (GRCm39) small insertion probably benign
RF031:Cyb5r4 UTSW 9 86,922,498 (GRCm39) small insertion probably benign
RF032:Cyb5r4 UTSW 9 86,922,466 (GRCm39) small insertion probably benign
RF034:Cyb5r4 UTSW 9 86,922,500 (GRCm39) nonsense probably null
RF034:Cyb5r4 UTSW 9 86,922,470 (GRCm39) small insertion probably benign
RF036:Cyb5r4 UTSW 9 86,922,483 (GRCm39) small insertion probably benign
RF038:Cyb5r4 UTSW 9 86,922,495 (GRCm39) small insertion probably benign
RF040:Cyb5r4 UTSW 9 86,922,462 (GRCm39) small insertion probably benign
RF043:Cyb5r4 UTSW 9 86,922,484 (GRCm39) small insertion probably benign
RF043:Cyb5r4 UTSW 9 86,922,464 (GRCm39) small insertion probably benign
RF045:Cyb5r4 UTSW 9 86,922,500 (GRCm39) small insertion probably benign
RF045:Cyb5r4 UTSW 9 86,922,455 (GRCm39) nonsense probably null
RF052:Cyb5r4 UTSW 9 86,922,475 (GRCm39) small insertion probably benign
RF053:Cyb5r4 UTSW 9 86,922,475 (GRCm39) small insertion probably benign
RF055:Cyb5r4 UTSW 9 86,922,491 (GRCm39) small insertion probably benign
RF055:Cyb5r4 UTSW 9 86,922,467 (GRCm39) small insertion probably benign
RF056:Cyb5r4 UTSW 9 86,922,463 (GRCm39) small insertion probably benign
RF059:Cyb5r4 UTSW 9 86,922,498 (GRCm39) small insertion probably benign
RF060:Cyb5r4 UTSW 9 86,922,466 (GRCm39) small insertion probably benign
RF061:Cyb5r4 UTSW 9 86,922,488 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- CACTGGGAGAGAGTAAGCTTTTGG -3'
(R):5'- CTGCATCTGATAAATGAGGTACTGC -3'

Sequencing Primer
(F):5'- AAAATGCTGGTGACAAGGGTTTCTC -3'
(R):5'- CTGATAAATGAGGTACTGCAGTTCG -3'
Posted On 2019-12-04