Incidental Mutation 'R0313:Uqcrc1'
ID 25341
Institutional Source Beutler Lab
Gene Symbol Uqcrc1
Ensembl Gene ENSMUSG00000025651
Gene Name ubiquinol-cytochrome c reductase core protein 1
Synonyms 1110032G10Rik
MMRRC Submission 038523-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R0313 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108765701-108778691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108777642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 114 (R114S)
Ref Sequence ENSEMBL: ENSMUSP00000141743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026743] [ENSMUST00000194047] [ENSMUST00000194469] [ENSMUST00000195738]
AlphaFold Q9CZ13
Predicted Effect probably benign
Transcript: ENSMUST00000026743
AA Change: R415S

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: R415S

DomainStartEndE-ValueType
low complexity region 17 37 N/A INTRINSIC
Pfam:Peptidase_M16 58 205 2.1e-54 PFAM
Pfam:Peptidase_M16_C 210 395 3.4e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193607
Predicted Effect probably benign
Transcript: ENSMUST00000194047
SMART Domains Protein: ENSMUSP00000141435
Gene: ENSMUSG00000025651

DomainStartEndE-ValueType
Pfam:Peptidase_M16 41 188 7.7e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000194469
AA Change: R114S

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141743
Gene: ENSMUSG00000025651
AA Change: R114S

DomainStartEndE-ValueType
Pfam:Peptidase_M16_C 1 94 5.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195387
Predicted Effect probably benign
Transcript: ENSMUST00000195738
Meta Mutation Damage Score 0.3289 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.9%
  • 20x: 88.5%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 A G 6: 58,649,082 (GRCm39) E309G probably benign Het
Ankmy1 C T 1: 92,813,943 (GRCm39) G412D probably damaging Het
Cc2d1a G A 8: 84,863,598 (GRCm39) T542I probably benign Het
Cldn18 T C 9: 99,580,967 (GRCm39) I94V probably benign Het
Cobll1 G A 2: 64,926,088 (GRCm39) R1195* probably null Het
Dnah7b A G 1: 46,246,803 (GRCm39) T1660A probably damaging Het
Dzip3 G T 16: 48,757,424 (GRCm39) Q870K probably damaging Het
Ebf4 T C 2: 130,148,707 (GRCm39) probably benign Het
Ecpas A G 4: 58,811,892 (GRCm39) I1411T probably benign Het
Esyt2 T C 12: 116,311,428 (GRCm39) L439P probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Haspin A G 11: 73,027,124 (GRCm39) V655A probably damaging Het
Kmt2c T C 5: 25,549,928 (GRCm39) E1351G probably damaging Het
Lama2 C A 10: 26,869,394 (GRCm39) probably null Het
Lcp1 A G 14: 75,436,873 (GRCm39) E73G probably damaging Het
Ltv1 C T 10: 13,058,604 (GRCm39) probably null Het
Mcmdc2 A G 1: 10,002,366 (GRCm39) Y529C probably damaging Het
Myo3b T A 2: 70,179,303 (GRCm39) Y1172* probably null Het
Ncf1 T C 5: 134,258,421 (GRCm39) M1V probably null Het
Or4k47 C T 2: 111,451,945 (GRCm39) S158N possibly damaging Het
Or6c8b A G 10: 128,882,695 (GRCm39) V79A possibly damaging Het
Or8c10 T C 9: 38,279,600 (GRCm39) S243P probably damaging Het
Pcif1 A T 2: 164,726,339 (GRCm39) H80L probably damaging Het
Pclo T C 5: 14,728,887 (GRCm39) probably benign Het
Polr2a T C 11: 69,625,906 (GRCm39) Y1710C unknown Het
Ppp1r37 G A 7: 19,267,923 (GRCm39) T324I probably damaging Het
Prmt1 T C 7: 44,628,172 (GRCm39) D176G probably benign Het
Scn5a T C 9: 119,363,637 (GRCm39) D501G probably damaging Het
Ska2 A G 11: 87,008,640 (GRCm39) I89M possibly damaging Het
Slc39a7 G A 17: 34,248,518 (GRCm39) A375V probably damaging Het
Ssrp1 T A 2: 84,871,898 (GRCm39) I374N probably damaging Het
Stox2 C T 8: 47,645,169 (GRCm39) G828R probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Usp38 A T 8: 81,711,071 (GRCm39) L988* probably null Het
Vmn2r5 T A 3: 64,411,248 (GRCm39) H440L probably benign Het
Wdr12 A T 1: 60,121,738 (GRCm39) I271N possibly damaging Het
Xylt2 C T 11: 94,560,720 (GRCm39) probably benign Het
Other mutations in Uqcrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Uqcrc1 APN 9 108,778,026 (GRCm39) missense possibly damaging 0.62
IGL02332:Uqcrc1 APN 9 108,776,937 (GRCm39) missense probably damaging 1.00
IGL02698:Uqcrc1 APN 9 108,777,011 (GRCm39) critical splice donor site probably null
R0743:Uqcrc1 UTSW 9 108,773,773 (GRCm39) nonsense probably null
R2027:Uqcrc1 UTSW 9 108,776,083 (GRCm39) missense probably benign 0.06
R2513:Uqcrc1 UTSW 9 108,765,836 (GRCm39) missense probably damaging 1.00
R4680:Uqcrc1 UTSW 9 108,776,929 (GRCm39) missense probably damaging 1.00
R4993:Uqcrc1 UTSW 9 108,773,878 (GRCm39) missense probably damaging 1.00
R5223:Uqcrc1 UTSW 9 108,771,224 (GRCm39) missense probably damaging 1.00
R5716:Uqcrc1 UTSW 9 108,776,473 (GRCm39) missense probably benign
R5941:Uqcrc1 UTSW 9 108,776,554 (GRCm39) unclassified probably benign
R6274:Uqcrc1 UTSW 9 108,771,224 (GRCm39) missense probably damaging 1.00
R6598:Uqcrc1 UTSW 9 108,776,690 (GRCm39) missense possibly damaging 0.93
R7132:Uqcrc1 UTSW 9 108,778,536 (GRCm39) missense probably damaging 0.98
R7150:Uqcrc1 UTSW 9 108,776,926 (GRCm39) missense probably benign 0.02
R7524:Uqcrc1 UTSW 9 108,765,827 (GRCm39) missense possibly damaging 0.48
R8708:Uqcrc1 UTSW 9 108,776,108 (GRCm39) missense probably damaging 0.97
R8889:Uqcrc1 UTSW 9 108,766,186 (GRCm39) missense probably damaging 1.00
R8892:Uqcrc1 UTSW 9 108,766,186 (GRCm39) missense probably damaging 1.00
R8975:Uqcrc1 UTSW 9 108,776,721 (GRCm39) missense probably damaging 1.00
R9136:Uqcrc1 UTSW 9 108,776,973 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGCACACTACTGTTGTTATTGGCAGG -3'
(R):5'- GGAGCAAATGTCACGCAGCATC -3'

Sequencing Primer
(F):5'- ATTGGCAGGTTATTGTGGAAAC -3'
(R):5'- GGAGCTGTTCCTCTCCCAAAG -3'
Posted On 2013-04-16