Incidental Mutation 'RF027:Cyb5r4'
ID 604195
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 # RF027 (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) AGACACACTGCCCAGG to AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG at 86922484 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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm CCTCCTCCTCCTC CCTCCTCCTCCTCTCCTCCTCCTC 7: 80,162,662 (GRCm39) probably null Het
Cacna1f GAG GAGTAG X: 7,486,293 (GRCm39) probably null Het
Ccdc170 ACC ACCTCC 10: 4,511,026 (GRCm39) probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Dmkn GTGGA GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA 7: 30,466,619 (GRCm39) probably benign Het
Dnaaf9 CTC CTCGTC 2: 130,612,664 (GRCm39) probably benign Het
Dnah8 CCCTCCCG C 17: 30,854,450 (GRCm39) probably null Het
Fam171b AGCAGC AGCAGCTGCAGC 2: 83,643,220 (GRCm39) probably benign Het
Flywch1 TCACTCACCCACTCCTGGTGT TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT 17: 23,981,132 (GRCm39) probably null Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,119,516 (GRCm39) probably benign Het
Kri1 CTCCTCCT C 9: 21,192,364 (GRCm39) probably null Het
Krtap28-10 CACAGC CACAGCCACAGCCACAACAGC 1: 83,020,006 (GRCm39) probably benign Het
Loricrin ATAGCCG A 3: 91,989,183 (GRCm39) probably benign Het
Med12l AGC AGCGGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,571 (GRCm39) probably benign Het
Mnd1 G A 3: 84,041,366 (GRCm39) L79F possibly damaging Het
Nolc1 AGCAGCAGC AGCAGCAGCGGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Pdcd11 GGAGGAG GG 19: 47,101,888 (GRCm39) probably null Het
Rbfox2 G T 15: 77,016,973 (GRCm39) Q134K possibly damaging Het
Tcof1 AGC AGCTGC 18: 60,968,808 (GRCm39) probably benign Het
Tent4a GACA G 13: 69,681,973 (GRCm39) probably benign Het
Ttf2 TTCT TTCTTCT 3: 100,870,473 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Zfhx3 CAGCAGCA CAGCAGCAAGAGCAGCA 8: 109,682,730 (GRCm39) probably benign Het
Zfp384 CCCAGGC CCCAGGCCCAGGACCAGGC 6: 125,013,453 (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 86,922,494 (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
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'- CACTGGGAGAGAGTAAGCTTTTG -3'
(R):5'- ATGAGGTACTGCAGTTCGTG -3'

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