Incidental Mutation 'R7255:Cyb5r3'
ID 564225
Institutional Source Beutler Lab
Gene Symbol Cyb5r3
Ensembl Gene ENSMUSG00000018042
Gene Name cytochrome b5 reductase 3
Synonyms Dia1, Dia-1, 0610016L08Rik, 2500002N19Rik
MMRRC Submission 045316-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7255 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 83037695-83056793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83044366 bp (GRCm39)
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
Aldh1a7 A G 19: 20,692,092 (GRCm39) S234P probably damaging Het
Arhgap28 T C 17: 68,159,999 (GRCm39) H650R probably damaging Het
Asic1 A G 15: 99,595,338 (GRCm39) D355G probably damaging Het
Atp8b1 T A 18: 64,689,939 (GRCm39) S598C probably damaging Het
Bcat1 C A 6: 144,978,511 (GRCm39) E237* probably null Het
Btbd16 A T 7: 130,387,722 (GRCm39) I114F probably benign Het
Casp2 A G 6: 42,245,841 (GRCm39) D166G probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cpsf1 G A 15: 76,481,743 (GRCm39) T1099M probably damaging Het
Crisp4 C A 1: 18,200,455 (GRCm39) A116S probably damaging Het
Dip2b G A 15: 100,107,508 (GRCm39) D1407N probably benign Het
Dnajc8 A G 4: 132,278,884 (GRCm39) K201R probably benign Het
Dock10 C T 1: 80,520,816 (GRCm39) probably null Het
Dop1b C A 16: 93,567,034 (GRCm39) H1272N probably damaging Het
Dsc1 C T 18: 20,230,330 (GRCm39) R325Q probably benign Het
Enpp1 A T 10: 24,521,213 (GRCm39) I838K possibly damaging Het
Fcna T G 2: 25,516,040 (GRCm39) D159A probably damaging Het
Flnc G T 6: 29,445,765 (GRCm39) G840C probably damaging Het
Flt1 C T 5: 147,517,216 (GRCm39) A1024T probably damaging Het
Galc T C 12: 98,212,514 (GRCm39) K207R probably null Het
Gbp2b T A 3: 142,313,878 (GRCm39) L386Q probably damaging Het
Gm8297 T A 14: 16,165,868 (GRCm39) N48K probably damaging Het
Gm9639 G A 10: 77,630,372 (GRCm39) P180L unknown Het
Inpp5a A G 7: 139,091,364 (GRCm39) N116S probably damaging Het
Ipo9 T C 1: 135,313,726 (GRCm39) E984G probably benign Het
Klra4 A G 6: 130,036,605 (GRCm39) F145L probably damaging Het
Lag3 A G 6: 124,887,198 (GRCm39) L123P probably benign Het
Lyz3 T C 10: 117,070,327 (GRCm39) H150R probably benign Het
Med7 T A 11: 46,331,822 (GRCm39) M139K probably damaging Het
Mfsd2a A C 4: 122,845,814 (GRCm39) L153R possibly damaging Het
Mup9 A G 4: 60,377,336 (GRCm39) V71A probably benign Het
Myo16 A T 8: 10,549,169 (GRCm39) Q927L unknown Het
Myo9b T C 8: 71,743,535 (GRCm39) Y199H probably damaging Het
Nefm A G 14: 68,353,449 (GRCm39) F406L probably benign Het
Or10ag2 T A 2: 87,249,286 (GRCm39) L296Q probably damaging Het
Or10ak11 A T 4: 118,687,149 (GRCm39) F162I probably benign Het
Pamr1 T C 2: 102,441,929 (GRCm39) F173L probably damaging Het
Pds5b T A 5: 150,720,132 (GRCm39) D1205E probably benign Het
Plxna2 T G 1: 194,434,411 (GRCm39) F646V probably benign Het
Pnrc1 C T 4: 33,248,045 (GRCm39) G118D probably benign Het
Ppp1r16b T C 2: 158,603,311 (GRCm39) F412S probably benign Het
Prcc A T 3: 87,777,398 (GRCm39) V192E probably damaging Het
Psg19 A G 7: 18,527,973 (GRCm39) Y257H probably benign Het
Rfx7 T G 9: 72,527,110 (GRCm39) S1433R possibly damaging Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Sanbr G A 11: 23,570,465 (GRCm39) P145L probably benign Het
Sbspon G T 1: 15,954,021 (GRCm39) C86* probably null Het
Sdhb A G 4: 140,704,729 (GRCm39) E230G possibly damaging Het
Sema6b T C 17: 56,432,336 (GRCm39) T581A probably benign Het
Shkbp1 G T 7: 27,042,173 (GRCm39) T594K possibly damaging Het
Shpk A G 11: 73,090,486 (GRCm39) S48G probably benign Het
Slc1a3 A G 15: 8,672,483 (GRCm39) V332A possibly damaging Het
Slc25a25 T C 2: 32,311,384 (GRCm39) E135G possibly damaging Het
Slc5a8 A T 10: 88,745,493 (GRCm39) D367V probably damaging Het
Slco1c1 A G 6: 141,515,051 (GRCm39) T649A probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats1 T A 17: 45,765,131 (GRCm39) D163V probably damaging Het
Ssh2 T A 11: 77,316,419 (GRCm39) M304K probably damaging Het
Sulf1 T A 1: 12,929,232 (GRCm39) D166E probably benign Het
Syne1 A G 10: 5,283,446 (GRCm39) S1540P probably damaging Het
Tcf7l1 A T 6: 72,604,330 (GRCm39) probably null Het
Tet1 A T 10: 62,658,415 (GRCm39) M1477K probably benign Het
Tlr5 T C 1: 182,801,881 (GRCm39) F395S probably damaging Het
Trrap T C 5: 144,795,764 (GRCm39) L3847P probably damaging Het
Tsks C T 7: 44,602,112 (GRCm39) S276L probably benign Het
Uggt1 T C 1: 36,185,187 (GRCm39) E1519G probably damaging Het
Vps13a A G 19: 16,631,703 (GRCm39) probably null Het
Wdfy4 A G 14: 32,696,239 (GRCm39) V2768A Het
Wdr26 A C 1: 181,008,889 (GRCm39) I627R probably benign Het
Zfp160 T A 17: 21,245,749 (GRCm39) S100T probably benign Het
Other mutations in Cyb5r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Cyb5r3 APN 15 83,044,605 (GRCm39) missense probably benign
IGL02351:Cyb5r3 APN 15 83,045,136 (GRCm39) missense probably benign 0.04
IGL02358:Cyb5r3 APN 15 83,045,136 (GRCm39) missense probably benign 0.04
IGL02666:Cyb5r3 APN 15 83,044,554 (GRCm39) missense probably damaging 1.00
PIT4466001:Cyb5r3 UTSW 15 83,046,064 (GRCm39) missense probably damaging 1.00
R0063:Cyb5r3 UTSW 15 83,046,137 (GRCm39) missense probably benign 0.00
R0063:Cyb5r3 UTSW 15 83,046,137 (GRCm39) missense probably benign 0.00
R0368:Cyb5r3 UTSW 15 83,042,993 (GRCm39) missense probably benign 0.01
R3976:Cyb5r3 UTSW 15 83,044,330 (GRCm39) missense possibly damaging 0.58
R4953:Cyb5r3 UTSW 15 83,042,822 (GRCm39) nonsense probably null
R5249:Cyb5r3 UTSW 15 83,042,836 (GRCm39) intron probably benign
R5665:Cyb5r3 UTSW 15 83,038,755 (GRCm39) missense probably damaging 1.00
R6251:Cyb5r3 UTSW 15 83,038,917 (GRCm39) missense probably benign 0.10
R6368:Cyb5r3 UTSW 15 83,044,325 (GRCm39) missense possibly damaging 0.59
R9559:Cyb5r3 UTSW 15 83,043,123 (GRCm39) nonsense probably null
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