Incidental Mutation 'R5968:Ndufaf8'
ID 470706
Institutional Source Beutler Lab
Gene Symbol Ndufaf8
Ensembl Gene ENSMUSG00000078572
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 8
Synonyms 1810043H04Rik
MMRRC Submission 043249-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.563) question?
Stock # R5968 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 119989760-119991250 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 119990055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 56 (E56*)
Ref Sequence ENSEMBL: ENSMUSP00000140397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026442] [ENSMUST00000045402] [ENSMUST00000093901] [ENSMUST00000103018] [ENSMUST00000106223] [ENSMUST00000106225] [ENSMUST00000185558]
AlphaFold A2AMZ4
Predicted Effect probably benign
Transcript: ENSMUST00000026442
SMART Domains Protein: ENSMUSP00000026442
Gene: ENSMUSG00000025377

DomainStartEndE-ValueType
Pfam:ENTH 20 116 8.8e-9 PFAM
low complexity region 131 143 N/A INTRINSIC
low complexity region 254 287 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
low complexity region 512 523 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045402
SMART Domains Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306

DomainStartEndE-ValueType
Pfam:Aa_trans 4 398 1.5e-54 PFAM
low complexity region 546 563 N/A INTRINSIC
low complexity region 654 667 N/A INTRINSIC
coiled coil region 699 735 N/A INTRINSIC
low complexity region 827 837 N/A INTRINSIC
low complexity region 1011 1019 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093901
SMART Domains Protein: ENSMUSP00000091428
Gene: ENSMUSG00000025377

DomainStartEndE-ValueType
Pfam:ENTH 20 135 2.5e-10 PFAM
low complexity region 137 149 N/A INTRINSIC
low complexity region 260 293 N/A INTRINSIC
low complexity region 342 353 N/A INTRINSIC
low complexity region 518 529 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103018
SMART Domains Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306

DomainStartEndE-ValueType
Pfam:Aa_trans 4 398 8.5e-55 PFAM
low complexity region 546 563 N/A INTRINSIC
low complexity region 654 667 N/A INTRINSIC
coiled coil region 707 743 N/A INTRINSIC
low complexity region 835 845 N/A INTRINSIC
low complexity region 1019 1027 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106223
AA Change: E56*
Predicted Effect probably benign
Transcript: ENSMUST00000106225
SMART Domains Protein: ENSMUSP00000101832
Gene: ENSMUSG00000025377

DomainStartEndE-ValueType
Pfam:ENTH 20 135 3.5e-11 PFAM
low complexity region 137 149 N/A INTRINSIC
low complexity region 192 225 N/A INTRINSIC
low complexity region 274 285 N/A INTRINSIC
low complexity region 450 461 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131569
Predicted Effect probably null
Transcript: ENSMUST00000185558
AA Change: E56*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152152
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,621,077 (GRCm39) T978A probably benign Het
Adcy9 A G 16: 4,116,606 (GRCm39) L638P probably damaging Het
Adgrf2 A G 17: 43,026,063 (GRCm39) probably null Het
Anxa6 T C 11: 54,885,167 (GRCm39) I461V probably damaging Het
Arap1 T C 7: 101,043,945 (GRCm39) L668P probably damaging Het
Ces2e G T 8: 105,659,627 (GRCm39) G498W probably damaging Het
Crb1 A G 1: 139,170,739 (GRCm39) C823R probably damaging Het
Ehmt1 C T 2: 24,726,469 (GRCm39) R772H probably damaging Het
Enpep A G 3: 129,074,587 (GRCm39) L721S probably benign Het
Flii T G 11: 60,611,038 (GRCm39) I464L probably benign Het
Gm57858 T C 3: 36,064,840 (GRCm39) Q511R probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Ift172 T C 5: 31,418,828 (GRCm39) E1162G probably damaging Het
Meioc A G 11: 102,566,657 (GRCm39) S758G probably damaging Het
Ndst1 A C 18: 60,846,148 (GRCm39) S54A probably benign Het
Ndufb7 A G 8: 84,293,530 (GRCm39) D28G probably benign Het
Or1e16 T C 11: 73,286,018 (GRCm39) M277V possibly damaging Het
Or2a25 A G 6: 42,888,480 (GRCm39) I8V probably benign Het
Prkg1 A T 19: 30,570,324 (GRCm39) F443I probably damaging Het
Pspc1 C T 14: 57,001,693 (GRCm39) R227H probably benign Het
Ptpn21 A G 12: 98,677,149 (GRCm39) Y120H probably damaging Het
Runx1t1 A T 4: 13,841,890 (GRCm39) probably null Het
Ryr3 T C 2: 112,477,394 (GRCm39) D4449G probably benign Het
Sacs C A 14: 61,427,078 (GRCm39) A159E probably damaging Het
Slc16a14 T C 1: 84,890,226 (GRCm39) I360V possibly damaging Het
Tcstv5 T C 13: 120,411,618 (GRCm39) probably benign Het
Thop1 A G 10: 80,911,393 (GRCm39) D93G probably benign Het
Tmem92 A C 11: 94,669,564 (GRCm39) M85R probably benign Het
Ttn T C 2: 76,688,017 (GRCm39) probably benign Het
Zdhhc5 T C 2: 84,524,719 (GRCm39) probably null Het
Zfp335 T C 2: 164,734,314 (GRCm39) H1291R probably damaging Het
Zfp957 C T 14: 79,451,496 (GRCm39) C101Y probably damaging Het
Other mutations in Ndufaf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4824:Ndufaf8 UTSW 11 119,989,992 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTCATGTCTGTGAACGGAGC -3'
(R):5'- TTGCTGGGAGAAACCAAGTG -3'

Sequencing Primer
(F):5'- GAGCCGTTTCCGAGCCTTC -3'
(R):5'- CAAGTGGAGCTGGGGTCG -3'
Posted On 2017-03-31