Incidental Mutation 'RF014:Cyb5r4'
ID 603418
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 # RF014 (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) TGCCCAGGGATGTGACAGACACAC to TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC at 86922468 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: 98.6%
Validation Efficiency 98% (49/50)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,820 (GRCm39) probably benign Het
A2ml1 T C 6: 128,547,031 (GRCm39) N366S probably damaging Het
Abca5 T C 11: 110,170,580 (GRCm39) probably null Het
Acaca T C 11: 84,122,550 (GRCm39) V323A probably benign Het
Agbl3 T A 6: 34,776,293 (GRCm39) D266E possibly damaging Het
Aggf1 A T 13: 95,507,276 (GRCm39) S170T possibly damaging Het
Amhr2 A T 15: 102,361,589 (GRCm39) S467C probably benign Het
Begain GCCGCC GCCGCCACCGCC 12: 108,999,348 (GRCm39) probably benign Het
Best3 A T 10: 116,840,410 (GRCm39) Q280L probably damaging Het
Calhm1 CTGTGGCTGTGG CTGTGGCTGTGGGTGTGGCTGTGG 19: 47,129,704 (GRCm39) probably benign Het
Ccdc186 A G 19: 56,801,904 (GRCm39) L71S probably benign Het
Ces1d C A 8: 93,902,793 (GRCm39) probably null Het
Chga AGC AGCGGC 12: 102,527,652 (GRCm39) probably benign Het
Chga AGC AGCTGC 12: 102,527,664 (GRCm39) probably benign Het
Clstn3 T A 6: 124,436,225 (GRCm39) K212* probably null Het
Col16a1 TTTTT TTTTTCTTTT 4: 129,986,860 (GRCm39) probably benign Het
Cpxm2 G T 7: 131,672,592 (GRCm39) T319K possibly damaging Het
Dst T C 1: 34,286,760 (GRCm39) S3364P probably benign Het
Edc4 C T 8: 106,611,232 (GRCm39) T61M probably benign Het
Fndc5 A G 4: 129,035,960 (GRCm39) H199R probably benign Het
Gm43302 T A 5: 105,422,623 (GRCm39) I470F possibly damaging Het
Gne G T 4: 44,060,045 (GRCm39) A147D probably damaging Het
Igkv12-89 G GCAACGCCAC 6: 68,812,270 (GRCm39) probably benign Het
Irf9 C T 14: 55,843,334 (GRCm39) R179* probably null Het
Jakmip1 A T 5: 37,331,870 (GRCm39) K850M possibly damaging Het
Kalrn G A 16: 33,860,303 (GRCm39) T1884I probably benign Het
Krtap28-10 CCACCACAGCCACAGCCACCACAGCCACAG CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG 1: 83,019,972 (GRCm39) probably benign Het
Las1l CTCCTCCTTCTCCTCTTCCTC CTCCTC X: 94,984,263 (GRCm39) probably benign Het
Lctl A G 9: 64,026,212 (GRCm39) Y89C probably damaging Het
Lpgat1 GCC GCCTCC 1: 191,450,665 (GRCm39) probably benign Het
Luzp2 A T 7: 54,821,953 (GRCm39) I157F probably damaging Het
Lyz3 A G 10: 117,070,322 (GRCm39) *152Q probably null Het
Mamld1 GCA GCACCA X: 70,162,451 (GRCm39) probably benign Het
Map1a GCTCCAGCTCCAGCTCCAGCTCCA GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA 2: 121,136,776 (GRCm39) probably benign Het
Mbd3l1 A T 9: 18,396,296 (GRCm39) E140D possibly damaging Het
Mlh3 T A 12: 85,314,803 (GRCm39) Q461L probably benign Het
Mto1 G T 9: 78,355,598 (GRCm39) R7L probably benign Het
Muc4 A T 16: 32,570,676 (GRCm39) S579C probably damaging Het
Ngfr T C 11: 95,469,027 (GRCm39) Y117C probably damaging Het
Or10aa3 A T 1: 173,878,553 (GRCm39) I205F possibly damaging Het
Or13a23-ps1 A T 7: 140,118,690 (GRCm39) M87L probably benign Het
Or8d2b C A 9: 38,789,196 (GRCm39) H241Q probably benign Het
Plch2 A G 4: 155,091,577 (GRCm39) S179P probably damaging Het
Pogz T G 3: 94,785,558 (GRCm39) S838A possibly damaging Het
Polr1has CACCACCACCAC CACCACCACCACCACCACCACGACCACCACCAC 17: 37,275,952 (GRCm39) probably benign Het
Pot1b T A 17: 55,981,106 (GRCm39) T303S probably benign Het
Pou2f2 T A 7: 24,815,162 (GRCm39) I72L unknown Het
Ptpn4 A G 1: 119,612,195 (GRCm39) probably null Het
Ptprs A T 17: 56,723,935 (GRCm39) I1686N probably damaging Het
Rfx4 CTCTCT CTCTCTCTCTCTCTCTTTCTCT 10: 84,694,353 (GRCm39) probably benign Het
Rnf14 T A 18: 38,442,623 (GRCm39) V308E probably damaging Het
Setd1a TGGTGGTGG TGGTGGTGGGGGTGGTGG 7: 127,384,518 (GRCm39) probably benign Het
Sgo2b T C 8: 64,384,439 (GRCm39) T186A possibly damaging Het
Six3 CGG CGGTGG 17: 85,928,784 (GRCm39) probably benign Het
Six4 TG T 12: 73,150,356 (GRCm39) probably null Het
Spmap2l CAGCGATCCTCCCCAGTCCCGCA CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA 5: 77,164,247 (GRCm39) probably benign Het
Stox1 T A 10: 62,500,025 (GRCm39) H845L probably benign Het
Supt20 AGCAGC AGCAGCGGCAGC 3: 54,635,086 (GRCm39) probably benign Het
Trappc9 A AGCTGCTGCTGCTGCT 15: 72,673,132 (GRCm39) probably benign Het
Trim33 T C 3: 103,236,408 (GRCm39) V506A possibly damaging Het
Uckl1 T C 2: 181,211,987 (GRCm39) D373G probably benign Het
Vmn2r94 G T 17: 18,473,549 (GRCm39) C492* probably null Het
Wdr33 A G 18: 32,014,326 (GRCm39) D396G probably damaging Het
Ypel1 C T 16: 16,915,282 (GRCm39) V109M probably damaging Het
Zbtb11 A T 16: 55,800,960 (GRCm39) I105L probably damaging Het
Zbtb40 A T 4: 136,744,617 (GRCm39) C268S probably benign Het
Zfp36l1 T A 12: 80,156,518 (GRCm39) M288L probably benign Het
Zfp384 CC CCAAGGCCCAGGAC 6: 125,013,429 (GRCm39) probably benign Het
Zfp87 A G 13: 74,523,173 (GRCm39) F15S 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
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
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'- AAATGAGGTACTGCAGTTCGTG -3'

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