Incidental Mutation 'RF024:Cyb5r4'
ID 604068
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 # RF024 (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) ACACTGCCCAGGGA to ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA at 86922488 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: 99.2%
  • 20x: 98.3%
Validation Efficiency 98% (55/56)
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
Abca1 G T 4: 53,049,125 (GRCm39) T1651N probably damaging Het
Abca17 T TACCTG 17: 24,506,706 (GRCm39) probably null Het
Adgra3 A T 5: 50,170,729 (GRCm39) probably null Het
Ank1 T A 8: 23,609,360 (GRCm39) F1380I probably benign Het
Apcs A T 1: 172,721,809 (GRCm39) M179K probably damaging Het
Asb7 C T 7: 66,297,631 (GRCm39) R287Q probably damaging Het
Begain G GCCGCCT 12: 108,999,363 (GRCm39) probably null Het
Cacna2d1 A G 5: 16,230,774 (GRCm39) T69A possibly damaging Het
Ccdc170 CCA CCAACA 10: 4,511,024 (GRCm39) probably benign Het
Ccdc69 A G 11: 54,951,349 (GRCm39) L24P probably damaging Het
Cdh16 T G 8: 105,343,684 (GRCm39) N604T probably damaging Het
Cfap251 GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG 5: 123,391,946 (GRCm39) probably benign Het
Cfap251 GAAGAGGAGGAAGAGGAGGGGGAGAAGGAG GAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG 5: 123,391,952 (GRCm39) probably benign Het
Cfap251 GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG 5: 123,391,951 (GRCm39) probably benign Het
Crybg1 A G 10: 43,880,741 (GRCm39) V149A probably benign Het
Dnmt1 CAGTTCCTACCTCGTT CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT 9: 20,821,426 (GRCm39) probably null Het
Dnmt1 ACCTCGTT ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT 9: 20,821,434 (GRCm39) probably benign Het
Efhd2 CCGCCG CCGCCGACGCCG 4: 141,602,073 (GRCm39) probably benign Het
Enah GTGGCGGC G 1: 181,749,499 (GRCm39) probably null Het
Entpd2 CTT CTTT 2: 25,290,907 (GRCm39) probably null Het
Epha2 CCCCC CCCCCC 4: 141,050,717 (GRCm39) unknown Het
Fam114a2 T C 11: 57,383,859 (GRCm39) T359A probably benign Het
Farp1 A G 14: 121,474,560 (GRCm39) I258V probably damaging Het
Fbxw28 G T 9: 109,167,594 (GRCm39) Y54* probably null Het
Gabre CAGGCTCA C X: 71,313,783 (GRCm39) probably null Het
Gprc5d A T 6: 135,093,517 (GRCm39) L130Q probably damaging Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Herc2 C T 7: 55,876,273 (GRCm39) R4429C probably damaging Het
Kif21b A T 1: 136,086,079 (GRCm39) T817S probably damaging Het
Kl A C 5: 150,876,885 (GRCm39) Y235S probably benign Het
Klk1b5 T A 7: 43,491,798 (GRCm39) V20D possibly damaging Het
Krtap28-10 TCCCACA TCCCACACCCACA 1: 83,019,844 (GRCm39) probably benign Het
Krtap28-10 CAC CACGACAGCCACAGCAAC 1: 83,019,973 (GRCm39) probably benign Het
Lamc2 T A 1: 153,027,801 (GRCm39) T208S possibly damaging Het
Map1a GCTCCAGCTCCA GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA 2: 121,136,788 (GRCm39) probably benign Het
Map3k5 A T 10: 19,975,918 (GRCm39) N804I probably damaging Het
Map6d1 G A 16: 20,059,750 (GRCm39) T105I probably benign Het
Mbd1 TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,644 (GRCm39) probably benign Het
Mbd1 GTCTTCGTCTGCATCTGCATCTGCATCT GTCT 18: 74,406,681 (GRCm39) probably benign Het
Mrgprx1 A AGAC 7: 47,671,259 (GRCm39) probably benign Het
Mroh2a C A 1: 88,170,207 (GRCm39) L710M probably damaging Het
Mrtfa TTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 15: 80,902,456 (GRCm39) probably benign Het
Msmb A G 14: 31,880,047 (GRCm39) D79G probably damaging Het
Nab2 A T 10: 127,500,233 (GRCm39) D286E probably benign Het
Nrxn1 G A 17: 90,670,304 (GRCm39) R1144C probably damaging Het
Otog A T 7: 45,937,093 (GRCm39) T1601S probably damaging Het
Pan2 G A 10: 128,151,404 (GRCm39) E842K probably benign Het
Pcca C T 14: 122,922,310 (GRCm39) T357I probably damaging Het
Pcnx1 C T 12: 81,964,501 (GRCm39) P223S probably damaging Het
Polr1has CACCACCACCACCAC CACCACCACCACCACCACCACTACCACCACCACCAC 17: 37,275,949 (GRCm39) probably benign Het
Prop1 A C 11: 50,841,957 (GRCm39) Y150D possibly damaging Het
Prss56 T C 1: 87,114,892 (GRCm39) L465P probably benign Het
Psip1 T C 4: 83,378,735 (GRCm39) I353M probably damaging Het
Rapgef3 A C 15: 97,658,621 (GRCm39) H170Q probably benign Het
Rasal2 A T 1: 156,975,360 (GRCm39) S1150T probably damaging Het
Rtbdn C CAGCGGA 8: 85,682,808 (GRCm39) probably benign Het
Sap30bp T A 11: 115,851,333 (GRCm39) I135N probably damaging Het
Sbp ATG ATGCTGACAACAAAGCTG 17: 24,164,361 (GRCm39) probably benign Het
Scpppq1 A C 5: 104,222,725 (GRCm39) probably null Het
Slc35e4 A T 11: 3,857,960 (GRCm39) L215Q possibly damaging Het
Slc6a20b A T 9: 123,427,407 (GRCm39) probably benign Het
Smarca2 CAGC CAGCCCAAGC 19: 26,608,420 (GRCm39) probably benign Het
Surf4 A T 2: 26,812,179 (GRCm39) I183N probably benign Het
Tcof1 CAG CAGAAG 18: 60,968,810 (GRCm39) probably benign Het
Timm23 T A 14: 31,902,512 (GRCm39) *210C probably null Het
Tnfaip8 ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC AC 18: 50,179,898 (GRCm39) probably benign Het
Trim66 A T 7: 109,059,947 (GRCm39) L813Q possibly damaging Het
Trip10 G A 17: 57,562,045 (GRCm39) A224T probably benign Het
Ttn T A 2: 76,738,369 (GRCm39) I4103F unknown Het
Ttn T C 2: 76,737,943 (GRCm39) T4245A unknown Het
Ubn2 T A 6: 38,440,563 (GRCm39) M313K probably damaging Het
Ubr5 T C 15: 38,028,896 (GRCm39) N521S Het
Utp20 A T 10: 88,661,319 (GRCm39) D29E probably damaging Het
Vmn2r60 T A 7: 41,790,363 (GRCm39) V450E probably benign Het
Wnt6 A T 1: 74,821,980 (GRCm39) D187V probably damaging Het
Zc3h14 T C 12: 98,725,120 (GRCm39) C261R probably damaging Het
Zfp384 GCCCAGGC GCCCAGGCCCAGCCCCAGGC 6: 125,013,452 (GRCm39) probably benign Het
Zfp395 C T 14: 65,622,874 (GRCm39) S3F unknown Het
Zfp583 T A 7: 6,319,981 (GRCm39) I344F probably damaging Het
Zfp599 A C 9: 22,165,180 (GRCm39) V65G probably benign Het
Zfp808 T C 13: 62,319,113 (GRCm39) V114A probably benign Het
Zfp933 G A 4: 147,910,898 (GRCm39) H233Y probably damaging 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 86,922,494 (GRCm39) small insertion probably benign
RF016:Cyb5r4 UTSW 9 86,922,478 (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'- AATGGCTACCACTGGGAGAG -3'
(R):5'- GATAAATGAGGTACTGCAGTTCG -3'

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