Incidental Mutation 'R6526:Uqcc1'
ID 521803
Institutional Source Beutler Lab
Gene Symbol Uqcc1
Ensembl Gene ENSMUSG00000005882
Gene Name ubiquinol-cytochrome c reductase complex assembly factor 1
Synonyms mbFZb, 2410003P15Rik, 2310079L17Rik, Uqcc, Cbp3, Bfzp, 3110038N19Rik
MMRRC Submission 044652-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R6526 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155688814-155772230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155693343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 197 (F197S)
Ref Sequence ENSEMBL: ENSMUSP00000122886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006036] [ENSMUST00000109631] [ENSMUST00000109632] [ENSMUST00000109636] [ENSMUST00000133726] [ENSMUST00000136933] [ENSMUST00000152766] [ENSMUST00000151078]
AlphaFold Q9CWU6
Predicted Effect probably damaging
Transcript: ENSMUST00000006036
AA Change: F150S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006036
Gene: ENSMUSG00000005882
AA Change: F150S

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 105 191 8.1e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109631
AA Change: F162S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105259
Gene: ENSMUSG00000005882
AA Change: F162S

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 63 203 2.1e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109632
AA Change: F204S

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105260
Gene: ENSMUSG00000005882
AA Change: F204S

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 131 191 4.3e-19 PFAM
Pfam:Ubiq_cyt_C_chap 188 245 2.9e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109636
AA Change: F230S

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105264
Gene: ENSMUSG00000005882
AA Change: F230S

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 131 271 6.7e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123790
Predicted Effect probably benign
Transcript: ENSMUST00000133726
Predicted Effect probably benign
Transcript: ENSMUST00000136933
Predicted Effect probably damaging
Transcript: ENSMUST00000152766
AA Change: F197S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122886
Gene: ENSMUSG00000005882
AA Change: F197S

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 98 238 3.4e-45 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000139232
AA Change: F196S
SMART Domains Protein: ENSMUSP00000123019
Gene: ENSMUSG00000005882
AA Change: F196S

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 98 238 2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161484
Predicted Effect probably benign
Transcript: ENSMUST00000151078
Meta Mutation Damage Score 0.7830 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.5%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,331 (GRCm39) probably null Het
Abcc3 C T 11: 94,250,198 (GRCm39) G975D probably benign Het
Abhd13 G A 8: 10,037,777 (GRCm39) G125S probably damaging Het
Ache T A 5: 137,288,906 (GRCm39) L204Q probably damaging Het
Acnat2 A G 4: 49,383,497 (GRCm39) S19P probably benign Het
Adprh A G 16: 38,267,638 (GRCm39) Y216H probably benign Het
Anapc1 T A 2: 128,514,055 (GRCm39) K429* probably null Het
Anxa13 T C 15: 58,208,353 (GRCm39) noncoding transcript Het
Aprt A C 8: 123,303,555 (GRCm39) L6W probably damaging Het
Arhgef15 T C 11: 68,840,820 (GRCm39) T569A probably damaging Het
Atp11a T C 8: 12,914,999 (GRCm39) L1139P probably benign Het
Atp2b4 A G 1: 133,639,467 (GRCm39) S1136P probably damaging Het
B9d1 T A 11: 61,399,923 (GRCm39) Y90* probably null Het
Btla G A 16: 45,059,457 (GRCm39) A54T probably damaging Het
Cd63 T C 10: 128,747,358 (GRCm39) V35A probably benign Het
Chek2 T C 5: 110,996,556 (GRCm39) F173L probably damaging Het
Cntnap3 T A 13: 64,929,702 (GRCm39) N499I possibly damaging Het
Cog4 T C 8: 111,608,418 (GRCm39) L738P probably damaging Het
Cops6 T C 5: 138,162,162 (GRCm39) probably null Het
Cpeb1 T A 7: 81,011,417 (GRCm39) I175F probably benign Het
Cyp3a16 C T 5: 145,392,705 (GRCm39) D174N probably benign Het
Dnah6 T G 6: 73,051,687 (GRCm39) I2984L probably benign Het
Dock10 A T 1: 80,564,068 (GRCm39) I540N probably damaging Het
Elf5 A G 2: 103,269,578 (GRCm39) Y53C probably damaging Het
Elmod2 T C 8: 84,046,086 (GRCm39) T164A probably damaging Het
Elp1 T C 4: 56,798,812 (GRCm39) probably null Het
Epn3 A G 11: 94,385,758 (GRCm39) probably null Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Gm11115 T A 5: 88,301,909 (GRCm39) probably null Het
Golga3 T A 5: 110,352,761 (GRCm39) I884N probably damaging Het
Gria2 A T 3: 80,599,776 (GRCm39) F703I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtpbp2 A T 17: 46,475,037 (GRCm39) probably null Het
Herc2 T C 7: 55,807,078 (GRCm39) S2419P probably damaging Het
Inpp5d T C 1: 87,603,972 (GRCm39) probably benign Het
Kdm2b C A 5: 123,099,532 (GRCm39) V136F probably damaging Het
Klra2 T A 6: 131,198,839 (GRCm39) D234V probably benign Het
Lct A T 1: 128,228,215 (GRCm39) S1093T probably benign Het
Marchf9 A G 10: 126,892,558 (GRCm39) L310P probably benign Het
Morc1 G T 16: 48,407,487 (GRCm39) E668* probably null Het
Nbas A T 12: 13,455,426 (GRCm39) L1213F probably damaging Het
Neto1 A G 18: 86,516,873 (GRCm39) T397A possibly damaging Het
Oit3 A G 10: 59,265,462 (GRCm39) C268R probably damaging Het
Or5p55 A G 7: 107,566,669 (GRCm39) T22A probably benign Het
Pcx T C 19: 4,654,523 (GRCm39) F312L probably benign Het
Pitx2 T C 3: 129,008,432 (GRCm39) probably null Het
Pkhd1l1 G A 15: 44,361,485 (GRCm39) probably null Het
Polr1a C A 6: 71,906,427 (GRCm39) D414E possibly damaging Het
Pramel27 A G 4: 143,579,384 (GRCm39) D323G probably damaging Het
Prkch T C 12: 73,749,549 (GRCm39) Y381H probably damaging Het
Ptger3 T A 3: 157,273,139 (GRCm39) V162E probably damaging Het
Ptgr2 T G 12: 84,360,726 (GRCm39) M332R probably damaging Het
Ptprq G T 10: 107,378,514 (GRCm39) S2009* probably null Het
Pwwp3a A G 10: 80,068,113 (GRCm39) T86A probably benign Het
Rangrf C T 11: 68,864,514 (GRCm39) G11R probably damaging Het
Rbl2 A T 8: 91,823,467 (GRCm39) Q465L probably benign Het
Rhbdd1 A T 1: 82,318,380 (GRCm39) M88L probably benign Het
Setd2 G A 9: 110,361,785 (GRCm39) M13I probably benign Het
Sirpb1a T C 3: 15,444,080 (GRCm39) Y384C probably damaging Het
Slc13a1 C T 6: 24,097,611 (GRCm39) G439S probably damaging Het
Slc41a1 T A 1: 131,768,887 (GRCm39) I239N probably damaging Het
Slit2 T A 5: 48,461,509 (GRCm39) C1502S probably damaging Het
Slit3 G A 11: 35,552,119 (GRCm39) E888K probably benign Het
Srrm3 G T 5: 135,864,088 (GRCm39) R62L probably damaging Het
Synm A G 7: 67,385,331 (GRCm39) V777A possibly damaging Het
Trmt13 T A 3: 116,385,864 (GRCm39) N31I probably damaging Het
Trpm8 G A 1: 88,289,720 (GRCm39) E893K probably damaging Het
Vmn1r67 T A 7: 10,181,598 (GRCm39) N287K probably benign Het
Vmn2r44 A T 7: 8,381,098 (GRCm39) M265K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xdh C A 17: 74,207,546 (GRCm39) C937F probably damaging Het
Zfp846 T A 9: 20,505,167 (GRCm39) N342K probably benign Het
Other mutations in Uqcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01950:Uqcc1 APN 2 155,700,058 (GRCm39) missense probably damaging 1.00
IGL02883:Uqcc1 APN 2 155,753,749 (GRCm39) missense possibly damaging 0.93
R0433:Uqcc1 UTSW 2 155,752,288 (GRCm39) missense probably damaging 1.00
R1506:Uqcc1 UTSW 2 155,753,738 (GRCm39) missense probably damaging 0.98
R1579:Uqcc1 UTSW 2 155,763,641 (GRCm39) nonsense probably null
R4801:Uqcc1 UTSW 2 155,700,026 (GRCm39) splice site probably benign
R5049:Uqcc1 UTSW 2 155,752,341 (GRCm39) missense probably damaging 1.00
R6042:Uqcc1 UTSW 2 155,763,564 (GRCm39) missense possibly damaging 0.48
R7331:Uqcc1 UTSW 2 155,753,731 (GRCm39) missense probably benign
R7548:Uqcc1 UTSW 2 155,751,309 (GRCm39) missense probably damaging 1.00
R7721:Uqcc1 UTSW 2 155,700,066 (GRCm39) missense probably benign 0.13
R7780:Uqcc1 UTSW 2 155,752,073 (GRCm39) splice site probably null
R8723:Uqcc1 UTSW 2 155,729,100 (GRCm39) nonsense probably null
R9104:Uqcc1 UTSW 2 155,743,217 (GRCm39) critical splice donor site probably null
R9366:Uqcc1 UTSW 2 155,771,995 (GRCm39) unclassified probably benign
R9412:Uqcc1 UTSW 2 155,693,329 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- AAACTAGCTCCTGGTATGTCAG -3'
(R):5'- CAGAGTCCCGTGTTCTTCTG -3'

Sequencing Primer
(F):5'- GCCTCTTATCACCCACTAAGATG -3'
(R):5'- TGTAACTCCAGTTCCAGGAAGCTG -3'
Posted On 2018-06-06