Incidental Mutation 'R5737:Uqcc5'
ID 444594
Institutional Source Beutler Lab
Gene Symbol Uqcc5
Ensembl Gene ENSMUSG00000058351
Gene Name ubiquinol-cytochrome c reductase complex assembly factor 5
Synonyms 2010107H07Rik, Smim4, Gm41122
MMRRC Submission 043195-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5737 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 30810081-30850894 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30850676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 22 (I22T)
Ref Sequence ENSEMBL: ENSMUSP00000067418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049732] [ENSMUST00000064032] [ENSMUST00000090205] [ENSMUST00000203261] [ENSMUST00000227096]
AlphaFold Q8C1Q6
Predicted Effect probably benign
Transcript: ENSMUST00000049732
AA Change: I22T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000050634
Gene: ENSMUSG00000058351
AA Change: I22T

DomainStartEndE-ValueType
Pfam:UPF0640 1 69 4.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064032
AA Change: I22T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000067418
Gene: ENSMUSG00000058351
AA Change: I22T

DomainStartEndE-ValueType
Pfam:UPF0640 2 68 9.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090205
AA Change: I22T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000087673
Gene: ENSMUSG00000058351
AA Change: I22T

DomainStartEndE-ValueType
Pfam:UPF0640 1 59 4.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203261
AA Change: I22T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000145018
Gene: ENSMUSG00000058351
AA Change: I22T

DomainStartEndE-ValueType
Pfam:UPF0640 2 68 9.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226975
Predicted Effect probably benign
Transcript: ENSMUST00000227096
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A G 13: 54,707,055 (GRCm39) V78A probably damaging Het
Albfm1 G T 5: 90,720,642 (GRCm39) C271F probably damaging Het
Aldh1l2 T A 10: 83,356,189 (GRCm39) D67V probably damaging Het
Ankfy1 T A 11: 72,623,100 (GRCm39) D253E probably damaging Het
Arhgap42 T C 9: 9,059,069 (GRCm39) K159R probably damaging Het
Atrnl1 C T 19: 57,766,320 (GRCm39) A1219V possibly damaging Het
Cacna1c C T 6: 118,718,893 (GRCm39) V386I probably damaging Het
Cacna2d2 A G 9: 107,403,946 (GRCm39) T1015A possibly damaging Het
Cadps2 T C 6: 23,328,804 (GRCm39) M999V probably benign Het
Ccer1 A T 10: 97,530,546 (GRCm39) H403L possibly damaging Het
Cubn A T 2: 13,393,702 (GRCm39) I1433N probably damaging Het
Dcbld2 T C 16: 58,281,348 (GRCm39) V531A probably damaging Het
Dnah11 A G 12: 118,156,125 (GRCm39) V175A probably benign Het
Dnah3 T C 7: 119,658,421 (GRCm39) K920R probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dscaml1 C T 9: 45,656,483 (GRCm39) R1608C probably damaging Het
Gtf3c2 A G 5: 31,325,593 (GRCm39) probably null Het
Heca A T 10: 17,791,462 (GRCm39) M198K possibly damaging Het
Igkv8-24 A T 6: 70,194,122 (GRCm39) S29T probably benign Het
Lipo2 A C 19: 33,699,096 (GRCm39) N311K probably damaging Het
Lmo7 T G 14: 102,124,672 (GRCm39) I266S probably damaging Het
Naip2 T A 13: 100,298,362 (GRCm39) E558V probably benign Het
Nelfa T A 5: 34,056,457 (GRCm39) probably null Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Psmg2 T C 18: 67,779,107 (GRCm39) S92P possibly damaging Het
Rasa2 C T 9: 96,452,718 (GRCm39) probably null Het
Slc6a3 A C 13: 73,692,923 (GRCm39) N181T probably damaging Het
Tdrd5 A G 1: 156,128,294 (GRCm39) M136T probably benign Het
Tmem178b A C 6: 40,222,575 (GRCm39) M97L possibly damaging Het
Tnfaip8l1 A G 17: 56,478,950 (GRCm39) D80G probably benign Het
Tomt T C 7: 101,549,524 (GRCm39) T255A probably benign Het
Vmn2r26 G T 6: 124,016,408 (GRCm39) V291F probably benign Het
Other mutations in Uqcc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Uqcc5 APN 14 30,810,879 (GRCm39) intron probably benign
R0751:Uqcc5 UTSW 14 30,810,953 (GRCm39) intron probably benign
R5814:Uqcc5 UTSW 14 30,846,477 (GRCm39) critical splice donor site probably null
R7273:Uqcc5 UTSW 14 30,846,555 (GRCm39) missense probably damaging 1.00
R7358:Uqcc5 UTSW 14 30,846,560 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTCCTAACGCCCAAAGTG -3'
(R):5'- AACTTCCGCGACCTAACTCTTG -3'

Sequencing Primer
(F):5'- GTTCCTAACGCCCAAAGTGAAAGG -3'
(R):5'- GAGTCTTGGTGCTCAGTCCAC -3'
Posted On 2016-11-21