Incidental Mutation 'R8509:Ndufb4'
ID 655776
Institutional Source Beutler Lab
Gene Symbol Ndufb4
Ensembl Gene ENSMUSG00000022820
Gene Name NADH:ubiquinone oxidoreductase subunit B4
Synonyms 1300010H20Rik, 0610006N12Rik
MMRRC Submission 067944-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R8509 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 37467962-37474779 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37469506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 66 (I66T)
Ref Sequence ENSEMBL: ENSMUSP00000023514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023514]
AlphaFold Q9CQC7
Predicted Effect probably benign
Transcript: ENSMUST00000023514
AA Change: I66T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023514
Gene: ENSMUSG00000022820
AA Change: I66T

DomainStartEndE-ValueType
Pfam:NDUF_B4 5 128 5.5e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T C 7: 115,703,669 (GRCm39) S181P possibly damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Ano3 T C 2: 110,496,180 (GRCm39) E858G possibly damaging Het
Asrgl1 T C 19: 9,091,590 (GRCm39) K244E probably damaging Het
BC048679 T A 7: 81,145,116 (GRCm39) T82S probably benign Het
Brip1 A T 11: 86,088,774 (GRCm39) C42* probably null Het
Cabcoco1 T C 10: 68,267,119 (GRCm39) E296G probably damaging Het
Ccnb1ip1 T C 14: 51,029,714 (GRCm39) N116S probably benign Het
Cep95 A G 11: 106,695,876 (GRCm39) E214G probably benign Het
Cyp11b1 A G 15: 74,711,202 (GRCm39) F159L possibly damaging Het
Dmxl2 C A 9: 54,335,341 (GRCm39) E660* probably null Het
Dnah14 C T 1: 181,642,220 (GRCm39) T112M Het
Fancd2 A G 6: 113,549,531 (GRCm39) T74A probably benign Het
Fat4 G T 3: 39,036,052 (GRCm39) V3235L probably benign Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gmcl1 A C 6: 86,699,589 (GRCm39) I146S probably damaging Het
Hbb-bs T A 7: 103,475,919 (GRCm39) K133* probably null Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Hmcn1 T A 1: 150,449,302 (GRCm39) K5446* probably null Het
Hyal6 A T 6: 24,734,605 (GRCm39) E179D probably damaging Het
Inpp5b T A 4: 124,637,698 (GRCm39) probably null Het
Lrba A G 3: 86,255,483 (GRCm39) K942E probably benign Het
Lrrcc1 A G 3: 14,601,567 (GRCm39) N110S probably damaging Het
Mcoln3 A G 3: 145,830,647 (GRCm39) I126V probably benign Het
Ncoa7 T C 10: 30,572,048 (GRCm39) I242V probably benign Het
Npffr2 T C 5: 89,731,188 (GRCm39) S373P possibly damaging Het
Or5d20-ps1 T C 2: 87,931,866 (GRCm39) Y155C probably benign Het
Pi4ka A T 16: 17,172,008 (GRCm39) I579N Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ripk2 T C 4: 16,124,436 (GRCm39) E424G probably benign Het
Rnf19b T A 4: 128,967,369 (GRCm39) C304S probably damaging Het
Rtp1 T C 16: 23,248,064 (GRCm39) W46R probably damaging Het
Ryr2 A G 13: 11,592,664 (GRCm39) probably null Het
Sbf1 A T 15: 89,177,660 (GRCm39) D1674E probably damaging Het
Sgf29 T A 7: 126,270,834 (GRCm39) probably benign Het
Slc22a8 T C 19: 8,585,339 (GRCm39) probably null Het
Smg6 T C 11: 74,932,702 (GRCm39) S998P probably benign Het
Spata31h1 A G 10: 82,126,950 (GRCm39) V2020A probably benign Het
Srgap3 G A 6: 112,708,297 (GRCm39) Q801* probably null Het
Taf4b A G 18: 15,031,112 (GRCm39) D832G probably damaging Het
Trim12a T C 7: 103,955,234 (GRCm39) D163G probably benign Het
Trim46 A G 3: 89,153,020 (GRCm39) probably null Het
Trpm4 A G 7: 44,971,785 (GRCm39) V274A probably damaging Het
Unc80 A G 1: 66,680,788 (GRCm39) D2128G possibly damaging Het
Other mutations in Ndufb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02584:Ndufb4 APN 16 37,469,532 (GRCm39) splice site probably benign
R4389:Ndufb4 UTSW 16 37,468,032 (GRCm39) missense probably benign
R5345:Ndufb4 UTSW 16 37,474,540 (GRCm39) critical splice donor site probably null
R8252:Ndufb4 UTSW 16 37,474,637 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCACCACTAGGAACTGCTGG -3'
(R):5'- TTCTGAATAGTAGAACCAGTCAGG -3'

Sequencing Primer
(F):5'- GGCACCTAGGAGGGACTTC -3'
(R):5'- CCAGTCAGGTGGGAGTCATG -3'
Posted On 2020-10-20