Incidental Mutation 'R0890:Coa7'
ID83456
Institutional Source Beutler Lab
Gene Symbol Coa7
Ensembl Gene ENSMUSG00000048351
Gene Namecytochrome c oxidase assembly factor 7
SynonymsD4Ertd796e, Selrc1, 2010305A19Rik
MMRRC Submission 039053-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.577) question?
Stock #R0890 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location108328140-108341544 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 108338386 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 171 (A171T)
Ref Sequence ENSEMBL: ENSMUSP00000114906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000131656]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000073764
Predicted Effect probably damaging
Transcript: ENSMUST00000131656
AA Change: A171T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114906
Gene: ENSMUSG00000048351
AA Change: A171T

DomainStartEndE-ValueType
SEL1 34 66 2.16e2 SMART
SEL1 68 104 2.56e-3 SMART
SEL1 108 146 1.18e-2 SMART
SEL1 147 183 6.49e-5 SMART
SEL1 184 219 1.09e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141423
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 120,373,713 S837P probably benign Het
Cdh24 A G 14: 54,632,594 V240A probably benign Het
Clcn4 T C 7: 7,288,965 T556A possibly damaging Het
Col12a1 A T 9: 79,700,402 S381R probably damaging Het
Col9a3 C T 2: 180,610,063 P335L probably benign Het
Dcxr T A 11: 120,726,471 N82I probably damaging Het
Dhdh T C 7: 45,481,971 D146G possibly damaging Het
Dhrs13 T A 11: 78,034,350 L99Q probably null Het
Dnaic1 C T 4: 41,604,253 T220M possibly damaging Het
Gapvd1 T A 2: 34,712,317 D606V probably damaging Het
Gcn1l1 T G 5: 115,579,793 C246G possibly damaging Het
Gdf10 A G 14: 33,932,156 K207E possibly damaging Het
Gucy2d T C 7: 98,473,265 V1046A probably benign Het
Itpr3 C A 17: 27,089,011 Y257* probably null Het
Kifc5b C T 17: 26,923,022 T158M possibly damaging Het
Klra7 C T 6: 130,218,953 D251N probably benign Het
Mesp1 T C 7: 79,792,935 D198G probably benign Het
Mrgprb8 T A 7: 48,389,029 C149* probably null Het
Nphp4 C A 4: 152,498,220 L169I possibly damaging Het
Olfr183 T A 16: 58,999,787 I34K possibly damaging Het
Olfr3 T A 2: 36,812,574 T173S probably benign Het
Olfr551 C A 7: 102,588,201 E181* probably null Het
Pcgf5 A T 19: 36,412,144 H7L probably benign Het
Polr3b A C 10: 84,714,336 K970T probably benign Het
Pomgnt1 A G 4: 116,152,185 D93G probably benign Het
Rnf213 A G 11: 119,430,486 K1256E possibly damaging Het
Scn9a T C 2: 66,483,735 T1869A probably damaging Het
Setdb2 A G 14: 59,419,220 V232A possibly damaging Het
Sh3d21 T C 4: 126,151,152 E578G probably damaging Het
Tmem168 A T 6: 13,603,272 S32T probably damaging Het
Vmn1r38 T G 6: 66,776,530 I201L probably benign Het
Wfs1 C A 5: 36,975,544 W130C probably damaging Het
Other mutations in Coa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Coa7 APN 4 108338308 missense possibly damaging 0.88
IGL00920:Coa7 APN 4 108338308 missense possibly damaging 0.88
IGL00922:Coa7 APN 4 108338308 missense possibly damaging 0.88
IGL00924:Coa7 APN 4 108338308 missense possibly damaging 0.88
IGL03328:Coa7 APN 4 108338282 missense probably damaging 0.98
IGL03342:Coa7 APN 4 108332229 missense probably damaging 1.00
R0103:Coa7 UTSW 4 108338141 missense possibly damaging 0.50
R0103:Coa7 UTSW 4 108338141 missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TGCTTTCTGATGGCCTGTGAGAAAC -3'
(R):5'- TGGGCAACGCACTACCCAAATG -3'

Sequencing Primer
(F):5'- GAAGTCTGTTGAATCCTGTCAC -3'
(R):5'- CTACCCAAATGTTAGAGGTTGGAC -3'
Posted On2013-11-08