Incidental Mutation 'IGL02499:Sqor'
ID 295953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sqor
Ensembl Gene ENSMUSG00000005803
Gene Name sulfide quinone oxidoreductase
Synonyms 0610039J17Rik, Sqrdl, 4930557M22Rik, flavo-binding protein
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02499
Quality Score
Status
Chromosome 2
Chromosomal Location 122607249-122651473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122650007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 417 (M417K)
Ref Sequence ENSEMBL: ENSMUSP00000106133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005953] [ENSMUST00000110506] [ENSMUST00000126403] [ENSMUST00000176343]
AlphaFold Q9R112
Predicted Effect possibly damaging
Transcript: ENSMUST00000005953
AA Change: M417K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005953
Gene: ENSMUSG00000005803
AA Change: M417K

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 44 189 1.7e-11 PFAM
SCOP:d1fcda1 240 364 2e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110506
AA Change: M417K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106133
Gene: ENSMUSG00000005803
AA Change: M417K

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 45 342 7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126403
SMART Domains Protein: ENSMUSP00000117575
Gene: ENSMUSG00000005803

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 45 192 8.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176343
SMART Domains Protein: ENSMUSP00000135786
Gene: ENSMUSG00000005803

DomainStartEndE-ValueType
SCOP:d1fl2a1 25 132 6e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abcb1a A G 5: 8,776,807 (GRCm39) N835S possibly damaging Het
Abr A T 11: 76,399,916 (GRCm39) F27Y probably benign Het
Adam5 C T 8: 25,271,581 (GRCm39) probably null Het
Alas1 A T 9: 106,118,520 (GRCm39) Y201N probably damaging Het
Aldoart1 T A 4: 72,770,476 (GRCm39) R111W possibly damaging Het
Arhgef25 A G 10: 127,021,460 (GRCm39) Y253H probably damaging Het
Arhgef28 G T 13: 98,090,291 (GRCm39) A1076E possibly damaging Het
Baz2b C T 2: 59,731,840 (GRCm39) R2066K possibly damaging Het
Bdh1 G T 16: 31,256,866 (GRCm39) R5L possibly damaging Het
Brap A G 5: 121,817,934 (GRCm39) Y358C probably damaging Het
Cad T C 5: 31,226,948 (GRCm39) V1235A probably damaging Het
Cadps G T 14: 12,822,725 (GRCm38) S5* probably null Het
Cd200r2 A G 16: 44,734,948 (GRCm39) T220A possibly damaging Het
Cd209e T A 8: 3,904,238 (GRCm39) M6L probably benign Het
Cdh23 G T 10: 60,220,958 (GRCm39) T1265K probably damaging Het
Clec16a T C 16: 10,512,540 (GRCm39) S828P probably benign Het
Dao A G 5: 114,152,002 (GRCm39) K107E possibly damaging Het
Dnah6 T A 6: 72,998,210 (GRCm39) M4071L probably benign Het
Dvl1 T C 4: 155,939,237 (GRCm39) I250T probably benign Het
Dzip3 A C 16: 48,754,213 (GRCm39) L945V probably damaging Het
Gm128 A G 3: 95,147,992 (GRCm39) S101P possibly damaging Het
Gphn T C 12: 78,539,074 (GRCm39) L240P probably benign Het
Hecw2 A G 1: 53,965,647 (GRCm39) I393T probably benign Het
Iigp1c T C 18: 60,378,710 (GRCm39) S82P probably damaging Het
Kat14 A G 2: 144,235,751 (GRCm39) E161G probably benign Het
Kcne3 A C 7: 99,833,610 (GRCm39) I76L probably benign Het
Kcnk18 A T 19: 59,223,614 (GRCm39) Q253L probably benign Het
Kmt2a T C 9: 44,741,806 (GRCm39) probably benign Het
Lrrc73 A G 17: 46,567,915 (GRCm39) probably benign Het
Mki67 A G 7: 135,296,056 (GRCm39) S2993P possibly damaging Het
Mto1 T A 9: 78,368,794 (GRCm39) probably benign Het
Myo9a T A 9: 59,722,669 (GRCm39) probably benign Het
Myt1 G A 2: 181,467,342 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,566,885 (GRCm39) T587A probably benign Het
Nemf T A 12: 69,368,903 (GRCm39) I771F probably damaging Het
Or10k2 T A 8: 84,267,812 (GRCm39) V13D possibly damaging Het
Or5k16 A G 16: 58,736,614 (GRCm39) L130P probably damaging Het
Or8c10 A T 9: 38,278,977 (GRCm39) Y45F probably benign Het
Papln T C 12: 83,827,445 (GRCm39) V761A probably benign Het
Pask A T 1: 93,248,817 (GRCm39) L861* probably null Het
Pcdh18 T A 3: 49,707,896 (GRCm39) R859S probably benign Het
Ppip5k1 C T 2: 121,162,034 (GRCm39) probably null Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rasgrp4 A T 7: 28,850,928 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,271 (GRCm39) I614V probably benign Het
Sec23ip T C 7: 128,378,640 (GRCm39) I818T probably damaging Het
Skint11 G A 4: 114,051,801 (GRCm39) A50T probably benign Het
Tbc1d24 T C 17: 24,426,593 (GRCm39) probably null Het
Tbc1d8b A T X: 138,613,173 (GRCm39) D333V probably damaging Het
Tbx2 T C 11: 85,731,739 (GRCm39) S679P possibly damaging Het
Thbs2 A G 17: 14,904,328 (GRCm39) probably benign Het
Ttn T C 2: 76,689,795 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,493,568 (GRCm39) I126N probably damaging Het
Zbtb10 G T 3: 9,316,800 (GRCm39) G204V probably damaging Het
Zfp426 A C 9: 20,384,414 (GRCm39) probably benign Het
Other mutations in Sqor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Sqor APN 2 122,629,463 (GRCm39) missense probably damaging 0.97
IGL01544:Sqor APN 2 122,634,266 (GRCm39) splice site probably benign
IGL02583:Sqor APN 2 122,641,690 (GRCm39) missense probably damaging 0.98
IGL02732:Sqor APN 2 122,641,682 (GRCm39) missense possibly damaging 0.76
IGL03137:Sqor APN 2 122,649,991 (GRCm39) missense probably benign
H8786:Sqor UTSW 2 122,634,288 (GRCm39) missense probably benign 0.10
R0126:Sqor UTSW 2 122,639,947 (GRCm39) unclassified probably benign
R0410:Sqor UTSW 2 122,629,442 (GRCm39) missense probably benign
R0502:Sqor UTSW 2 122,639,970 (GRCm39) missense probably benign 0.04
R0709:Sqor UTSW 2 122,641,775 (GRCm39) missense probably benign 0.38
R1486:Sqor UTSW 2 122,649,565 (GRCm39) splice site probably null
R2001:Sqor UTSW 2 122,640,018 (GRCm39) missense probably damaging 0.98
R2020:Sqor UTSW 2 122,646,027 (GRCm39) critical splice donor site probably null
R2039:Sqor UTSW 2 122,634,324 (GRCm39) critical splice donor site probably null
R2404:Sqor UTSW 2 122,649,943 (GRCm39) missense probably benign
R4213:Sqor UTSW 2 122,629,418 (GRCm39) missense probably damaging 1.00
R4909:Sqor UTSW 2 122,627,101 (GRCm39) missense possibly damaging 0.82
R5630:Sqor UTSW 2 122,651,277 (GRCm39) missense possibly damaging 0.71
R5659:Sqor UTSW 2 122,629,523 (GRCm39) missense probably benign 0.02
R5728:Sqor UTSW 2 122,651,320 (GRCm39) makesense probably null
R5772:Sqor UTSW 2 122,651,261 (GRCm39) missense probably benign 0.00
R6527:Sqor UTSW 2 122,651,206 (GRCm39) missense probably damaging 0.98
R6657:Sqor UTSW 2 122,649,514 (GRCm39) missense possibly damaging 0.68
R6843:Sqor UTSW 2 122,651,215 (GRCm39) missense probably damaging 0.99
R6843:Sqor UTSW 2 122,626,900 (GRCm39) missense probably benign 0.00
R7193:Sqor UTSW 2 122,645,929 (GRCm39) missense probably damaging 1.00
R7320:Sqor UTSW 2 122,641,730 (GRCm39) missense probably benign
R7417:Sqor UTSW 2 122,629,450 (GRCm39) missense probably benign 0.35
R7846:Sqor UTSW 2 122,627,008 (GRCm39) missense probably benign 0.37
R8913:Sqor UTSW 2 122,641,806 (GRCm39) missense probably benign
R8939:Sqor UTSW 2 122,649,549 (GRCm39) missense possibly damaging 0.84
R9007:Sqor UTSW 2 122,649,876 (GRCm39) nonsense probably null
R9030:Sqor UTSW 2 122,629,514 (GRCm39) missense probably benign 0.14
R9447:Sqor UTSW 2 122,649,520 (GRCm39) missense possibly damaging 0.83
R9790:Sqor UTSW 2 122,626,912 (GRCm39) missense probably benign 0.00
R9791:Sqor UTSW 2 122,626,912 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16