Incidental Mutation 'IGL01318:Uqcrfs1'
ID73947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uqcrfs1
Ensembl Gene ENSMUSG00000038462
Gene Nameubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
Synonyms4430402G14Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL01318
Quality Score
Status
Chromosome13
Chromosomal Location30540308-30545362 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30540921 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 212 (I212T)
Ref Sequence ENSEMBL: ENSMUSP00000045284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042834]
Predicted Effect probably benign
Transcript: ENSMUST00000042834
AA Change: I212T

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000045284
Gene: ENSMUSG00000038462
AA Change: I212T

DomainStartEndE-ValueType
Pfam:Ubiq-Cytc-red_N 2 77 6.4e-30 PFAM
Pfam:UCR_TM 80 145 1.3e-33 PFAM
Pfam:Rieske 176 268 5.6e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutant mice harboring a 3' UTR insertion that reduces expression specifically in skin acquire dark patches in the dorsal brown coat at 4-7 months of age. In heterozygotes, the dark patches eventually fill the entire dorsal region; in homozygotes, the dark patches eventually turn grey. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik T A X: 58,919,469 I196N probably damaging Het
Alg10b T C 15: 90,228,389 probably benign Het
Ambn T C 5: 88,460,695 probably benign Het
Asap2 A G 12: 21,247,295 D585G probably null Het
Chaf1a G T 17: 56,059,336 probably benign Het
Ddhd1 A G 14: 45,616,551 S443P probably damaging Het
Dlk2 A G 17: 46,302,464 E215G probably damaging Het
Efhd2 T C 4: 141,859,865 N202S probably benign Het
Fam208b A C 13: 3,575,067 S946A possibly damaging Het
Gkap1 A T 13: 58,237,039 I308K probably damaging Het
Gm14025 C A 2: 129,038,702 V435L probably benign Het
Gm9848 T A 13: 113,108,240 noncoding transcript Het
Hmcn1 G A 1: 150,719,240 T1826I probably damaging Het
Htr5a T C 5: 27,842,744 V99A probably benign Het
Inha T G 1: 75,509,928 F289C probably damaging Het
Kcna3 T C 3: 107,037,978 V519A probably benign Het
Kcnma1 A T 14: 23,314,322 probably benign Het
Kctd1 A G 18: 15,062,690 V292A possibly damaging Het
Map2k4 A G 11: 65,756,263 probably benign Het
Mfap2 G T 4: 141,015,545 A175S possibly damaging Het
Milr1 G A 11: 106,765,245 A114T possibly damaging Het
Mogs G T 6: 83,118,577 V792F probably damaging Het
Nt5dc3 T A 10: 86,825,225 M418K possibly damaging Het
Olfr1098 A T 2: 86,922,949 N194K probably benign Het
Olfr1448 A G 19: 12,920,126 L61P probably damaging Het
Olfr77 A G 9: 19,920,758 E183G probably benign Het
Osbpl10 G A 9: 115,232,122 W756* probably null Het
Pgam5 A G 5: 110,265,525 Y235H probably damaging Het
Pgm5 G T 19: 24,816,478 A274E probably damaging Het
Prex1 C A 2: 166,569,340 probably benign Het
Prps1l1 A T 12: 34,985,378 N164I probably benign Het
Ralbp1 C A 17: 65,864,282 R232L probably damaging Het
Rnaseh2a C T 8: 84,965,123 probably benign Het
Stard9 A T 2: 120,698,719 H1819L possibly damaging Het
Stom T A 2: 35,336,877 I15F probably benign Het
Tph1 T G 7: 46,665,238 T22P probably damaging Het
Ush2a T C 1: 188,814,353 I3442T probably benign Het
Vmn2r113 A G 17: 22,958,335 I698V probably benign Het
Vmn2r75 T C 7: 86,165,566 I240V probably benign Het
Wdr17 T C 8: 54,672,550 T432A probably damaging Het
Other mutations in Uqcrfs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Uqcrfs1 APN 13 30540925 missense probably benign 0.14
IGL01603:Uqcrfs1 APN 13 30541198 missense probably benign
IGL02016:Uqcrfs1 APN 13 30545114 missense probably benign
IGL02740:Uqcrfs1 APN 13 30541023 missense probably damaging 1.00
R0142:Uqcrfs1 UTSW 13 30540942 missense probably benign 0.26
R0266:Uqcrfs1 UTSW 13 30541163 missense probably benign 0.17
R1457:Uqcrfs1 UTSW 13 30540907 missense probably damaging 1.00
R1469:Uqcrfs1 UTSW 13 30540801 missense probably damaging 1.00
R1469:Uqcrfs1 UTSW 13 30540801 missense probably damaging 1.00
R2079:Uqcrfs1 UTSW 13 30541308 missense probably benign 0.19
R2134:Uqcrfs1 UTSW 13 30540804 missense probably benign 0.22
R2262:Uqcrfs1 UTSW 13 30541107 missense probably benign 0.01
R2263:Uqcrfs1 UTSW 13 30541107 missense probably benign 0.01
R4324:Uqcrfs1 UTSW 13 30541158 missense probably benign 0.35
R4963:Uqcrfs1 UTSW 13 30540763 missense probably damaging 1.00
R5783:Uqcrfs1 UTSW 13 30545204 missense probably damaging 1.00
Posted On2013-10-07