Incidental Mutation 'R6088:Ndufb8'
ID486123
Institutional Source Beutler Lab
Gene Symbol Ndufb8
Ensembl Gene ENSMUSG00000025204
Gene NameNADH dehydrogenase (ubiquinone) 1 beta subcomplex 8
Synonyms
MMRRC Submission 044245-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6088 (G1)
Quality Score225.009
Status Validated
Chromosome19
Chromosomal Location44548572-44555440 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44555025 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 70 (S70P)
Ref Sequence ENSEMBL: ENSMUSP00000130918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026222] [ENSMUST00000167027] [ENSMUST00000168083] [ENSMUST00000169304] [ENSMUST00000171415]
Predicted Effect probably benign
Transcript: ENSMUST00000026222
AA Change: S40P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026222
Gene: ENSMUSG00000025204
AA Change: S40P

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
Pfam:NDUF_B8 15 186 1.1e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166557
Predicted Effect probably benign
Transcript: ENSMUST00000166808
SMART Domains Protein: ENSMUSP00000126763
Gene: ENSMUSG00000091471

DomainStartEndE-ValueType
Pfam:NDUF_B8 1 71 1.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167027
AA Change: S70P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000130918
Gene: ENSMUSG00000025204
AA Change: S70P

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
Pfam:NDUF_B8 54 139 2.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168083
SMART Domains Protein: ENSMUSP00000132740
Gene: ENSMUSG00000025204

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169181
Predicted Effect probably benign
Transcript: ENSMUST00000169304
SMART Domains Protein: ENSMUSP00000132421
Gene: ENSMUSG00000025204

DomainStartEndE-ValueType
Pfam:NDUF_B8 1 108 4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171415
AA Change: S40P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128192
Gene: ENSMUSG00000025204
AA Change: S40P

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
Pfam:NDUF_B8 15 157 2.9e-67 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 58,902,102 V360F probably damaging Het
Ankrd17 C T 5: 90,253,688 E1605K possibly damaging Het
Arid4a A G 12: 71,022,236 D54G probably damaging Het
Baz2a TCTCCTC TCTC 10: 128,114,642 probably benign Het
Card6 A T 15: 5,105,019 V234E possibly damaging Het
Cd1d1 G T 3: 86,998,702 Q89K probably benign Het
Ciita G A 16: 10,511,931 R693K probably damaging Het
Cox7a2l G T 17: 83,503,972 L77I probably benign Het
Crybg2 A T 4: 134,075,790 probably null Het
Cts8 T C 13: 61,253,966 N39S probably benign Het
Def8 G T 8: 123,460,048 E456* probably null Het
Dld A G 12: 31,340,989 F153L probably benign Het
Elf1 C T 14: 79,567,261 T122I probably benign Het
Emilin2 T C 17: 71,255,124 N961S probably benign Het
Esp24 A G 17: 39,040,010 I34V probably benign Het
Fam129b T C 2: 32,923,123 V540A probably damaging Het
Fam184b C A 5: 45,584,012 K292N probably damaging Het
Gabrg3 T A 7: 56,985,078 N119I probably damaging Het
Gucy1b1 T C 3: 82,034,880 H524R probably damaging Het
Kcp A T 6: 29,502,632 S205T probably benign Het
Klb C T 5: 65,349,013 T201M probably benign Het
Lamp3 A T 16: 19,673,398 F365L probably damaging Het
Mad1l1 T A 5: 140,193,963 H390L probably benign Het
Mlxipl T C 5: 135,134,030 Y711H possibly damaging Het
Myo5b T A 18: 74,720,898 L1196Q possibly damaging Het
Neb T C 2: 52,209,342 D4832G probably damaging Het
Nr5a1 T C 2: 38,701,995 D322G probably benign Het
Olfr396-ps1 A T 11: 73,928,823 T273S probably benign Het
Olfr988 T A 2: 85,353,354 S191C probably damaging Het
Oscar G A 7: 3,611,312 P143S probably benign Het
Oxa1l T A 14: 54,367,694 probably null Het
Pafah2 A G 4: 134,413,381 I221V probably benign Het
Pibf1 T A 14: 99,179,358 F456I probably benign Het
Pla2g4d C T 2: 120,270,006 G615D probably damaging Het
Plekhg2 C T 7: 28,361,013 V964I probably benign Het
Ppip5k1 C A 2: 121,337,463 V770L probably benign Het
Ppl A T 16: 5,104,988 L213Q possibly damaging Het
Ptprf G A 4: 118,210,755 T1785I possibly damaging Het
Pycr2 G A 1: 180,906,236 G131E probably damaging Het
Rbpj C T 5: 53,651,368 probably null Het
Rcc1 G T 4: 132,332,842 D430E probably benign Het
Rhbdf1 A G 11: 32,212,007 V525A possibly damaging Het
Samd7 G A 3: 30,756,483 M216I probably benign Het
Ska3 A T 14: 57,816,694 D266E probably benign Het
Slc1a7 G A 4: 108,012,444 V569M probably damaging Het
Slc26a1 C T 5: 108,674,006 E6K possibly damaging Het
Slc4a4 T A 5: 89,197,704 V741E probably benign Het
St6galnac3 C T 3: 153,206,715 G164S probably damaging Het
Tgs1 T A 4: 3,595,383 N517K probably benign Het
Tns4 A G 11: 99,073,720 S522P probably damaging Het
Trpm1 A T 7: 64,267,976 M355L probably damaging Het
Trpm8 G A 1: 88,306,678 probably benign Het
Uhrf1bp1 G A 17: 27,884,605 probably null Het
V1ra8 T C 6: 90,203,100 F95S probably damaging Het
Zfp521 A C 18: 13,846,109 S416A possibly damaging Het
Zfp574 T A 7: 25,080,339 V262E probably benign Het
Zfp740 T A 15: 102,208,808 I77N probably damaging Het
Zscan18 A T 7: 12,775,198 probably benign Het
Other mutations in Ndufb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0463:Ndufb8 UTSW 19 44550345 missense possibly damaging 0.82
R0608:Ndufb8 UTSW 19 44550345 missense possibly damaging 0.82
R1637:Ndufb8 UTSW 19 44555035 missense probably benign 0.20
R1663:Ndufb8 UTSW 19 44550381 missense probably damaging 1.00
R2099:Ndufb8 UTSW 19 44555310 splice site probably benign
R4287:Ndufb8 UTSW 19 44552691 missense probably benign 0.12
R6494:Ndufb8 UTSW 19 44555305 missense probably null
R7376:Ndufb8 UTSW 19 44555355 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AATGGAAGTCTTCTCGGCTGC -3'
(R):5'- TTCGTGTGCCCAAAGAAGG -3'

Sequencing Primer
(F):5'- CTAATGACTCTGAGGGGTCACTAC -3'
(R):5'- AAGGGATACAGGGTTGCTGTAGTC -3'
Posted On2017-08-16