Incidental Mutation 'R8723:Uqcc1'
ID 662211
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 068615-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R8723 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155688814-155772230 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 155729100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 21 (W21*)
Ref Sequence ENSEMBL: ENSMUSP00000125200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006036] [ENSMUST00000109631] [ENSMUST00000109632] [ENSMUST00000109636] [ENSMUST00000133726] [ENSMUST00000136933] [ENSMUST00000159238] [ENSMUST00000151078] [ENSMUST00000152766]
AlphaFold Q9CWU6
Predicted Effect probably benign
Transcript: ENSMUST00000006036
SMART Domains Protein: ENSMUSP00000006036
Gene: ENSMUSG00000005882

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 105 191 8.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109631
AA Change: G96R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105259
Gene: ENSMUSG00000005882
AA Change: G96R

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 63 203 2.1e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109632
AA Change: G164R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105260
Gene: ENSMUSG00000005882
AA Change: G164R

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 probably damaging
Transcript: ENSMUST00000109636
AA Change: G164R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105264
Gene: ENSMUSG00000005882
AA Change: G164R

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 131 271 6.7e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133726
Predicted Effect probably benign
Transcript: ENSMUST00000136933
Predicted Effect probably null
Transcript: ENSMUST00000159238
AA Change: W21*
Predicted Effect
SMART Domains Protein: ENSMUSP00000123019
Gene: ENSMUSG00000005882
AA Change: G130R

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 98 238 2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151078
Predicted Effect probably damaging
Transcript: ENSMUST00000152766
AA Change: G131R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122886
Gene: ENSMUSG00000005882
AA Change: G131R

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 98 238 3.4e-45 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,360,897 (GRCm39) H465Q probably benign Het
Adam29 T C 8: 56,324,513 (GRCm39) H647R probably damaging Het
Adamtsl4 C T 3: 95,584,426 (GRCm39) R990Q possibly damaging Het
Adgrg7 T G 16: 56,582,282 (GRCm39) R285S probably benign Het
Alkbh1 A G 12: 87,485,278 (GRCm39) V115A probably benign Het
Ankrd50 A C 3: 38,511,453 (GRCm39) F305V probably damaging Het
Anpep A G 7: 79,488,686 (GRCm39) S414P probably damaging Het
Anxa3 A G 5: 96,986,206 (GRCm39) I282V probably benign Het
Aoah T G 13: 21,184,180 (GRCm39) Y415D possibly damaging Het
Cacna1b A G 2: 24,548,510 (GRCm39) V1188A probably damaging Het
Cnot1 A G 8: 96,462,907 (GRCm39) I1651T probably benign Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Ctnnd1 G A 2: 84,450,384 (GRCm39) P279S probably benign Het
Dnah10 A T 5: 124,891,685 (GRCm39) E3298V probably damaging Het
Ear14 C T 14: 51,441,513 (GRCm39) T123I possibly damaging Het
Elf3 A G 1: 135,185,385 (GRCm39) L43P possibly damaging Het
Exoc3l4 T A 12: 111,397,092 (GRCm39) probably benign Het
Figla A G 6: 85,997,724 (GRCm39) T151A probably benign Het
Fsd1l A G 4: 53,647,001 (GRCm39) E56G unknown Het
Gm49359 A T 13: 62,602,410 (GRCm39) H263Q probably damaging Het
Gprc6a A T 10: 51,491,518 (GRCm39) C744S probably damaging Het
Grhl1 G A 12: 24,662,244 (GRCm39) probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Itih3 T A 14: 30,630,761 (GRCm39) Q850L probably damaging Het
Kcnq5 A G 1: 21,575,591 (GRCm39) V285A probably damaging Het
Klc4 T G 17: 46,951,626 (GRCm39) E165A probably benign Het
Lrp2 T C 2: 69,316,648 (GRCm39) Y2111C probably damaging Het
Lyst A G 13: 13,887,342 (GRCm39) E3057G possibly damaging Het
Macf1 G A 4: 123,348,910 (GRCm39) Q4006* probably null Het
Map4k1 G A 7: 28,686,542 (GRCm39) D155N probably damaging Het
Ms4a20 A G 19: 11,083,055 (GRCm39) Y122H probably damaging Het
Myh14 A G 7: 44,272,407 (GRCm39) F1466S probably damaging Het
Nrip1 T C 16: 76,089,553 (GRCm39) D668G probably damaging Het
Or5w17 T C 2: 87,583,501 (GRCm39) T279A possibly damaging Het
Or8k3 A T 2: 86,058,786 (GRCm39) H176Q probably damaging Het
P2rx1 C A 11: 72,899,756 (GRCm39) N120K probably benign Het
Pif1 T A 9: 65,501,673 (GRCm39) M569K probably damaging Het
Prkd2 G A 7: 16,591,702 (GRCm39) V578I possibly damaging Het
Rhobtb1 A G 10: 69,106,101 (GRCm39) Y284C probably damaging Het
Rps6kb1 T C 11: 86,410,757 (GRCm39) T164A possibly damaging Het
Rxfp1 T C 3: 79,557,802 (GRCm39) T559A probably benign Het
Sag G A 1: 87,751,175 (GRCm39) probably null Het
Smoc1 G A 12: 81,182,586 (GRCm39) V138I possibly damaging Het
Spag5 T A 11: 78,212,215 (GRCm39) I1081N probably damaging Het
Stk25 A G 1: 93,553,666 (GRCm39) I203T probably damaging Het
Strip2 T A 6: 29,941,863 (GRCm39) V611E probably damaging Het
Sulf1 A T 1: 12,856,911 (GRCm39) D54V probably damaging Het
Tacr2 A G 10: 62,094,107 (GRCm39) D188G probably damaging Het
Tmem237 A T 1: 59,145,731 (GRCm39) Y358N probably damaging Het
Trim27 A C 13: 21,374,807 (GRCm39) probably benign Het
Tsen34 A G 7: 3,698,149 (GRCm39) E139G probably benign Het
Ttc39a T A 4: 109,300,700 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,671,899 (GRCm39) I781N probably damaging Het
Vmn2r117 A T 17: 23,696,343 (GRCm39) W355R probably damaging Het
Vmn2r89 T C 14: 51,693,910 (GRCm39) V420A probably benign Het
Zdhhc21 A T 4: 82,762,439 (GRCm39) I52K 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
R6526:Uqcc1 UTSW 2 155,693,343 (GRCm39) missense probably damaging 1.00
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
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'- GGCGTTAGGCAACATTTCAC -3'
(R):5'- TTTACAGTGCCTGTGTCATAGG -3'

Sequencing Primer
(F):5'- CGTTAGGCAACATTTCACAGAATTCC -3'
(R):5'- CATAGGTGTCTTAAAGCTGTAGC -3'
Posted On 2021-03-08