Incidental Mutation 'R7376:Ndufb8'
ID572420
Institutional Source Beutler Lab
Gene Symbol Ndufb8
Ensembl Gene ENSMUSG00000025204
Gene NameNADH dehydrogenase (ubiquinone) 1 beta subcomplex 8
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7376 (G1)
Quality Score225.009
Status Validated
Chromosome19
Chromosomal Location44548572-44555440 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 44555355 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Lysine at position 16 (R16K)
Ref Sequence ENSEMBL: ENSMUSP00000026222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026222] [ENSMUST00000167027] [ENSMUST00000168083] [ENSMUST00000169304] [ENSMUST00000171415]
Predicted Effect probably benign
Transcript: ENSMUST00000026222
AA Change: R16K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000026222
Gene: ENSMUSG00000025204
AA Change: R16K

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
Pfam:NDUF_B8 15 186 1.1e-80 PFAM
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: R16K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000130918
Gene: ENSMUSG00000025204
AA Change: R16K

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
Pfam:NDUF_B8 54 139 2.4e-48 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000168083
AA Change: R16K
SMART Domains Protein: ENSMUSP00000132740
Gene: ENSMUSG00000025204
AA Change: R16K

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
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: R16K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000128192
Gene: ENSMUSG00000025204
AA Change: R16K

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
Pfam:NDUF_B8 15 157 2.9e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,291,118 I994V probably benign Het
Acan T G 7: 79,088,307 probably null Het
Adamts12 G A 15: 11,277,339 V680I possibly damaging Het
Adgrg7 T C 16: 56,724,979 I712V probably damaging Het
Adgrl3 A G 5: 81,794,750 H1477R probably damaging Het
Adgrv1 T A 13: 81,518,126 D1937V probably damaging Het
Alms1 T C 6: 85,622,106 S1305P probably benign Het
Banp T A 8: 121,974,497 M39K probably damaging Het
Bbs10 A G 10: 111,299,250 T75A probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,888,136 probably benign Het
Brinp2 C T 1: 158,251,368 C295Y probably damaging Het
Card11 C T 5: 140,898,238 V429I probably benign Het
Cdca3 G A 6: 124,832,575 R184H probably benign Het
Cep104 A G 4: 153,983,052 probably null Het
Clspn A G 4: 126,590,637 K1196R possibly damaging Het
Cntnap5b A G 1: 99,967,269 T89A possibly damaging Het
Cpne9 A T 6: 113,290,013 I136L probably damaging Het
Crat T A 2: 30,406,465 I330F probably damaging Het
Ctbp2 G T 7: 133,013,968 Q413K possibly damaging Het
D630045J12Rik T C 6: 38,174,303 E1220G probably damaging Het
Dap A G 15: 31,235,839 D41G probably damaging Het
Dnah14 A G 1: 181,763,402 I3287V probably benign Het
Dsp A G 13: 38,172,843 H233R probably damaging Het
Dst T C 1: 34,192,689 I3121T probably benign Het
Espnl T G 1: 91,322,314 L61R probably damaging Het
Evc2 T C 5: 37,370,639 S331P possibly damaging Het
Gars A G 6: 55,073,359 E535G probably benign Het
Hfm1 A G 5: 106,895,218 I650T possibly damaging Het
Iyd T A 10: 3,545,690 I116N probably damaging Het
Kif16b A G 2: 142,711,872 L1002S probably damaging Het
Kif1bp C T 10: 62,559,064 V600I possibly damaging Het
Lgi1 G A 19: 38,284,020 G113D probably damaging Het
Lgi2 G A 5: 52,538,262 R452C probably damaging Het
Man2b2 T G 5: 36,813,378 N764T probably damaging Het
Mrps18b A G 17: 35,910,695 I246T probably benign Het
Muc5b A G 7: 141,872,550 T4795A possibly damaging Het
Mybl2 G A 2: 163,082,593 G627D possibly damaging Het
Olfr181 A T 16: 58,925,758 V271E possibly damaging Het
P4htm C T 9: 108,580,792 V335M probably damaging Het
Pbx3 A G 2: 34,204,877 I249T probably damaging Het
Plod3 G T 5: 136,990,481 V360L probably benign Het
Podxl2 C T 6: 88,849,650 D161N probably benign Het
Polr1b G T 2: 129,119,073 V651L probably benign Het
Prr14 T C 7: 127,476,577 S586P probably benign Het
Pum3 C T 19: 27,394,328 G575D probably benign Het
Rnf157 C A 11: 116,360,366 A111S probably benign Het
Robo3 A G 9: 37,432,916 L29P probably damaging Het
Smarca5 T C 8: 80,726,051 N342S probably damaging Het
Specc1 T A 11: 62,118,252 I198K probably benign Het
Tmem177 A T 1: 119,910,014 *312R probably null Het
Tom1l2 A T 11: 60,261,200 M172K probably benign Het
Tsc22d4 T C 5: 137,758,152 V3A unknown Het
Uhrf1bp1l G A 10: 89,809,656 G1197D probably damaging Het
Vmn1r128 G T 7: 21,349,743 G124V probably damaging Het
Vmn1r15 T C 6: 57,258,357 I70T probably benign Het
Vmn2r60 A G 7: 42,195,207 T665A probably damaging Het
Vmn2r83 T C 10: 79,478,956 F346S probably benign Het
Wdr7 T A 18: 63,777,620 D694E probably damaging 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
R6088:Ndufb8 UTSW 19 44555025 missense probably benign 0.00
R6494:Ndufb8 UTSW 19 44555305 missense probably null
Predicted Primers PCR Primer
(F):5'- TTTGGGCACACGAATCCACC -3'
(R):5'- TCTGAGATATTCGGCTGGCG -3'

Sequencing Primer
(F):5'- GAATCCACCGCGACCTC -3'
(R):5'- AAAGGGCCTCAGTCGGTTG -3'
Posted On2019-09-13