Incidental Mutation 'R7255:Cyb5r3'
ID 564225
Institutional Source Beutler Lab
Gene Symbol Cyb5r3
Ensembl Gene ENSMUSG00000018042
Gene Name cytochrome b5 reductase 3
Synonyms Dia1, 2500002N19Rik, Dia-1, 0610016L08Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R7255 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 83153494-83172592 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83160165 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 168 (I168T)
Ref Sequence ENSEMBL: ENSMUSP00000125636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018186] [ENSMUST00000162178] [ENSMUST00000162834]
AlphaFold Q9DCN2
Predicted Effect probably damaging
Transcript: ENSMUST00000018186
AA Change: I191T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018186
Gene: ENSMUSG00000018042
AA Change: I191T

DomainStartEndE-ValueType
Pfam:FAD_binding_6 44 151 7.1e-35 PFAM
Pfam:NAD_binding_6 172 262 3.2e-7 PFAM
Pfam:NAD_binding_1 177 285 1.1e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162178
AA Change: I168T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125636
Gene: ENSMUSG00000018042
AA Change: I168T

DomainStartEndE-ValueType
Pfam:FAD_binding_6 21 128 6.3e-38 PFAM
Pfam:NAD_binding_6 149 240 5.9e-8 PFAM
Pfam:NAD_binding_1 154 242 4.5e-24 PFAM
low complexity region 290 303 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162834
AA Change: I168T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124062
Gene: ENSMUSG00000018042
AA Change: I168T

DomainStartEndE-ValueType
Pfam:FAD_binding_6 21 128 2.1e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik G A 11: 23,620,465 P145L probably benign Het
9530003J23Rik T C 10: 117,234,422 H150R probably benign Het
Aldh1a7 A G 19: 20,714,728 S234P probably damaging Het
Arhgap28 T C 17: 67,853,004 H650R probably damaging Het
Asic1 A G 15: 99,697,457 D355G probably damaging Het
Atp8b1 T A 18: 64,556,868 S598C probably damaging Het
Bcat1 C A 6: 145,032,785 E237* probably null Het
Btbd16 A T 7: 130,785,992 I114F probably benign Het
Casp2 A G 6: 42,268,907 D166G probably damaging Het
Cd86 CA CAA 16: 36,606,555 probably null Het
Cpsf1 G A 15: 76,597,543 T1099M probably damaging Het
Crisp4 C A 1: 18,130,231 A116S probably damaging Het
Dip2b G A 15: 100,209,627 D1407N probably benign Het
Dnajc8 A G 4: 132,551,573 K201R probably benign Het
Dock10 C T 1: 80,543,099 probably null Het
Dopey2 C A 16: 93,770,146 H1272N probably damaging Het
Dsc1 C T 18: 20,097,273 R325Q probably benign Het
Enpp1 A T 10: 24,645,315 I838K possibly damaging Het
Fcna T G 2: 25,626,028 D159A probably damaging Het
Flnc G T 6: 29,445,766 G840C probably damaging Het
Flt1 C T 5: 147,580,406 A1024T probably damaging Het
Galc T C 12: 98,246,255 K207R probably null Het
Gbp2b T A 3: 142,608,117 L386Q probably damaging Het
Gm8297 T A 14: 4,984,874 N48K probably damaging Het
Gm9639 G A 10: 77,794,538 P180L unknown Het
Inpp5a A G 7: 139,511,448 N116S probably damaging Het
Ipo9 T C 1: 135,385,988 E984G probably benign Het
Klra4 A G 6: 130,059,642 F145L probably damaging Het
Lag3 A G 6: 124,910,235 L123P probably benign Het
Med7 T A 11: 46,440,995 M139K probably damaging Het
Mfsd2a A C 4: 122,952,021 L153R possibly damaging Het
Mup9 A G 4: 60,421,337 V71A probably benign Het
Myo16 A T 8: 10,499,169 Q927L unknown Het
Myo9b T C 8: 71,290,891 Y199H probably damaging Het
Nefm A G 14: 68,116,000 F406L probably benign Het
Olfr1123 T A 2: 87,418,942 L296Q probably damaging Het
Olfr1333 A T 4: 118,829,952 F162I probably benign Het
Pamr1 T C 2: 102,611,584 F173L probably damaging Het
Pds5b T A 5: 150,796,667 D1205E probably benign Het
Plxna2 T G 1: 194,752,103 F646V probably benign Het
Pnrc1 C T 4: 33,248,045 G118D probably benign Het
Ppp1r16b T C 2: 158,761,391 F412S probably benign Het
Prcc A T 3: 87,870,091 V192E probably damaging Het
Psg19 A G 7: 18,794,048 Y257H probably benign Het
Rfx7 T G 9: 72,619,828 S1433R possibly damaging Het
Rgl2 T C 17: 33,934,990 F457L possibly damaging Het
Sbspon G T 1: 15,883,797 C86* probably null Het
Sdhb A G 4: 140,977,418 E230G possibly damaging Het
Sema6b T C 17: 56,125,336 T581A probably benign Het
Shkbp1 G T 7: 27,342,748 T594K possibly damaging Het
Shpk A G 11: 73,199,660 S48G probably benign Het
Slc1a3 A G 15: 8,642,999 V332A possibly damaging Het
Slc25a25 T C 2: 32,421,372 E135G possibly damaging Het
Slc5a8 A T 10: 88,909,631 D367V probably damaging Het
Slco1c1 A G 6: 141,569,325 T649A probably benign Het
Sorbs1 G C 19: 40,376,800 R180G probably benign Het
Spats1 T A 17: 45,454,205 D163V probably damaging Het
Ssh2 T A 11: 77,425,593 M304K probably damaging Het
Sulf1 T A 1: 12,859,008 D166E probably benign Het
Syne1 A G 10: 5,333,446 S1540P probably damaging Het
Tcf7l1 A T 6: 72,627,347 probably null Het
Tet1 A T 10: 62,822,636 M1477K probably benign Het
Tlr5 T C 1: 182,974,316 F395S probably damaging Het
Trrap T C 5: 144,858,954 L3847P probably damaging Het
Tsks C T 7: 44,952,688 S276L probably benign Het
Uggt1 T C 1: 36,146,106 E1519G probably damaging Het
Vps13a A G 19: 16,654,339 probably null Het
Wdfy4 A G 14: 32,974,282 V2768A Het
Wdr26 A C 1: 181,181,324 I627R probably benign Het
Zfp160 T A 17: 21,025,487 S100T probably benign Het
Other mutations in Cyb5r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Cyb5r3 APN 15 83160404 missense probably benign
IGL02351:Cyb5r3 APN 15 83160935 missense probably benign 0.04
IGL02358:Cyb5r3 APN 15 83160935 missense probably benign 0.04
IGL02666:Cyb5r3 APN 15 83160353 missense probably damaging 1.00
PIT4466001:Cyb5r3 UTSW 15 83161863 missense probably damaging 1.00
R0063:Cyb5r3 UTSW 15 83161936 missense probably benign 0.00
R0063:Cyb5r3 UTSW 15 83161936 missense probably benign 0.00
R0368:Cyb5r3 UTSW 15 83158792 missense probably benign 0.01
R3976:Cyb5r3 UTSW 15 83160129 missense possibly damaging 0.58
R4953:Cyb5r3 UTSW 15 83158621 nonsense probably null
R5249:Cyb5r3 UTSW 15 83158635 intron probably benign
R5665:Cyb5r3 UTSW 15 83154554 missense probably damaging 1.00
R6251:Cyb5r3 UTSW 15 83154716 missense probably benign 0.10
R6368:Cyb5r3 UTSW 15 83160124 missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- CAGCCAGTGTACCAAAGTCC -3'
(R):5'- CGGTGAAGTCTGTAGGCATG -3'

Sequencing Primer
(F):5'- AAAGTCCCCAATCTGCGGG -3'
(R):5'- CATGATTGCAGGAGGGACAG -3'
Posted On 2019-06-26