Incidental Mutation 'IGL02740:Uqcrfs1'
ID305864
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 #IGL02740
Quality Score
Status
Chromosome13
Chromosomal Location30540308-30545362 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30541023 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 178 (H178R)
Ref Sequence ENSEMBL: ENSMUSP00000045284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042834]
Predicted Effect probably damaging
Transcript: ENSMUST00000042834
AA Change: H178R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045284
Gene: ENSMUSG00000038462
AA Change: H178R

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 C T 1: 59,169,919 E1494K probably benign Het
Antxr2 A G 5: 98,030,392 probably benign Het
Arhgap23 A C 11: 97,475,017 K998Q probably damaging Het
Bap1 A G 14: 31,256,772 N47D possibly damaging Het
Carmil1 A G 13: 24,094,518 I156T probably damaging Het
Ccdc141 T C 2: 77,054,609 T563A probably benign Het
Cct7 T C 6: 85,468,270 F501S probably benign Het
Cd59b A G 2: 104,078,897 I8V probably benign Het
Cep135 T C 5: 76,638,268 probably null Het
Cep170 T G 1: 176,793,600 T4P probably damaging Het
Chaf1a G T 17: 56,067,500 G896W probably damaging Het
Cpt1b A T 15: 89,424,332 L131Q probably damaging Het
Dcaf13 C T 15: 39,145,100 R366* probably null Het
Ddr2 A T 1: 169,984,945 N659K probably damaging Het
Dmrt2 C A 19: 25,678,473 L479I possibly damaging Het
Dnah10 A G 5: 124,826,863 probably benign Het
Dsg3 C T 18: 20,527,708 T368M possibly damaging Het
Dspp C A 5: 104,177,238 S489* probably null Het
Eed A C 7: 89,972,256 V112G possibly damaging Het
Ehmt1 T A 2: 24,815,839 probably benign Het
Elavl3 T C 9: 22,036,379 D89G probably benign Het
Ercc5 T C 1: 44,167,492 S522P probably benign Het
Esrrg T C 1: 188,198,741 L320P probably benign Het
Gadl1 T A 9: 116,006,561 Y352* probably null Het
Gemin5 G A 11: 58,151,564 A477V probably damaging Het
Gm3086 A T 12: 69,969,321 probably benign Het
Gm8082 C T 14: 42,989,113 probably benign Het
Gpr180 T C 14: 118,139,749 L54P probably damaging Het
Gpsm1 G A 2: 26,340,573 V512M probably benign Het
Ighv5-4 A G 12: 113,597,480 S107P probably damaging Het
Irak4 T C 15: 94,567,044 *460Q probably null Het
Nfkbiz G T 16: 55,817,954 T381N probably benign Het
Olfr1167 T A 2: 88,149,257 H254L probably damaging Het
Olfr384 A T 11: 73,602,831 N84Y probably benign Het
Olfr910 T C 9: 38,538,930 F12L probably damaging Het
Olfr937 T C 9: 39,060,289 I126V probably benign Het
Pou2f1 G A 1: 165,883,116 Q523* probably null Het
Ptcra A G 17: 46,758,547 S133P probably damaging Het
Ptgfrn A T 3: 101,072,937 D362E possibly damaging Het
Rbm33 A T 5: 28,331,123 D19V probably damaging Het
Rnf4 T A 5: 34,349,554 V74D possibly damaging Het
Rprd1b A G 2: 158,047,979 D7G probably damaging Het
Rrp1b A G 17: 32,059,331 T659A probably damaging Het
Scaf11 T C 15: 96,419,002 N894D probably benign Het
Scn1a A T 2: 66,318,077 D1041E probably benign Het
Scn1a G A 2: 66,324,762 R618C probably damaging Het
Slc43a1 G T 2: 84,859,750 A424S probably damaging Het
Sprtn T C 8: 124,898,303 L49P probably damaging Het
Sv2a G T 3: 96,185,407 R141L possibly damaging Het
Thsd7b C T 1: 129,613,127 S246F probably damaging Het
Tmem117 A T 15: 94,714,982 D133V probably benign Het
Tnn A T 1: 160,140,777 probably benign Het
Triobp G A 15: 78,966,689 V348I probably benign Het
Trps1 A T 15: 50,846,539 D134E probably damaging Het
Ttn T C 2: 76,767,818 I19584V probably benign Het
Ush2a A T 1: 188,648,388 Q2298L possibly damaging Het
Vmn2r67 A G 7: 85,136,610 I729T probably damaging Het
Vmn2r79 A T 7: 87,004,158 M544L probably benign Het
Vps41 T A 13: 18,838,680 L404Q probably damaging Het
Xrcc5 T G 1: 72,340,081 probably null Het
Zfp735 A G 11: 73,710,586 K119E possibly damaging Het
Other mutations in Uqcrfs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Uqcrfs1 APN 13 30540925 missense probably benign 0.14
IGL01318:Uqcrfs1 APN 13 30540921 missense probably benign 0.15
IGL01603:Uqcrfs1 APN 13 30541198 missense probably benign
IGL02016:Uqcrfs1 APN 13 30545114 missense probably benign
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 On2015-04-16