Incidental Mutation 'R6843:Sqor'
ID 534607
Institutional Source Beutler Lab
Gene Symbol Sqor
Ensembl Gene ENSMUSG00000005803
Gene Name sulfide quinone oxidoreductase
Synonyms 0610039J17Rik, Sqrdl, 4930557M22Rik, flavo-binding protein
MMRRC Submission 044949-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6843 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 122607249-122651473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 122651215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 437 (G437V)
Ref Sequence ENSEMBL: ENSMUSP00000106133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005953] [ENSMUST00000110506] [ENSMUST00000126403] [ENSMUST00000176343]
AlphaFold Q9R112
Predicted Effect probably damaging
Transcript: ENSMUST00000005953
AA Change: G437V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005953
Gene: ENSMUSG00000005803
AA Change: G437V

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 44 189 1.7e-11 PFAM
SCOP:d1fcda1 240 364 2e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110506
AA Change: G437V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106133
Gene: ENSMUSG00000005803
AA Change: G437V

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
AA Change: R159S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000135786
Gene: ENSMUSG00000005803
AA Change: R159S

DomainStartEndE-ValueType
SCOP:d1fl2a1 25 132 6e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,360 (GRCm39) Q78L probably benign Het
Akr1c21 A G 13: 4,625,213 (GRCm39) H48R probably damaging Het
Anks1b T A 10: 90,784,460 (GRCm39) S1143T probably damaging Het
Apip T G 2: 102,922,834 (GRCm39) F217L probably benign Het
Ash1l T A 3: 88,892,695 (GRCm39) Y1525N probably damaging Het
Bcl2l13 G A 6: 120,825,578 (GRCm39) probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Clk4 T G 11: 51,167,076 (GRCm39) probably null Het
Cnr2 C T 4: 135,644,900 (GRCm39) P326L probably benign Het
Cryaa A G 17: 31,897,147 (GRCm39) D58G possibly damaging Het
Crybg3 G A 16: 59,380,159 (GRCm39) T365M probably benign Het
Csmd2 A G 4: 128,357,587 (GRCm39) N1683D probably benign Het
Dbx2 T G 15: 95,552,340 (GRCm39) I102L possibly damaging Het
Dll4 A T 2: 119,156,475 (GRCm39) probably benign Het
Epb42 T A 2: 120,858,166 (GRCm39) Y264F possibly damaging Het
Exoc3l T A 8: 106,016,729 (GRCm39) H695L probably benign Het
Fhip1a G A 3: 85,580,352 (GRCm39) P618S probably damaging Het
Ghsr A C 3: 27,426,676 (GRCm39) D244A probably benign Het
Gm9195 A G 14: 72,678,651 (GRCm39) Y2268H possibly damaging Het
Hdac1 A G 4: 129,436,383 (GRCm39) Y14H probably damaging Het
Hdac3 A T 18: 38,075,007 (GRCm39) Y282N probably benign Het
Heg1 T A 16: 33,539,896 (GRCm39) N285K probably benign Het
Igkv4-90 A G 6: 68,784,670 (GRCm39) F8S possibly damaging Het
Map2k1 A T 9: 64,094,973 (GRCm39) D336E probably damaging Het
Map4k2 A T 19: 6,403,477 (GRCm39) I796F probably damaging Het
Mapk13 T A 17: 28,994,427 (GRCm39) probably null Het
Mprip A G 11: 59,650,554 (GRCm39) I1419M possibly damaging Het
Nrap T C 19: 56,368,651 (GRCm39) E255G probably damaging Het
Oprl1 A G 2: 181,357,547 (GRCm39) E11G probably damaging Het
Or1i2 T C 10: 78,447,891 (GRCm39) N195D probably damaging Het
Or4f14 T C 2: 111,743,260 (GRCm39) N5S probably damaging Het
Or52b3 A G 7: 102,203,928 (GRCm39) I146V probably benign Het
Or5b99 G T 19: 12,976,362 (GRCm39) C4F probably benign Het
Or6c209 A G 10: 129,483,048 (GRCm39) D17G possibly damaging Het
Palmd T A 3: 116,717,864 (GRCm39) D211V probably damaging Het
Pcdhga11 A G 18: 37,889,378 (GRCm39) N129D probably damaging Het
Plekha6 T A 1: 133,202,616 (GRCm39) M359K probably damaging Het
Plekha7 G T 7: 115,742,555 (GRCm39) H756Q probably benign Het
Ppfibp2 C T 7: 107,326,938 (GRCm39) P441S probably benign Het
Ptprk T C 10: 28,467,978 (GRCm39) I1373T possibly damaging Het
Serpinb9g G T 13: 33,676,900 (GRCm39) L227F probably damaging Het
Snapc4 C A 2: 26,263,611 (GRCm39) A11S probably benign Het
Srrm3 T C 5: 135,881,135 (GRCm39) V145A probably benign Het
Stx1b G A 7: 127,414,151 (GRCm39) Q72* probably null Het
Syt7 A G 19: 10,399,135 (GRCm39) D77G probably damaging Het
Tvp23a G A 16: 10,264,884 (GRCm39) A9V probably benign Het
Vmn1r66 T A 7: 10,008,692 (GRCm39) I114F probably damaging Het
Vmn2r80 C A 10: 79,005,502 (GRCm39) Q380K probably benign Het
Xdh C T 17: 74,230,125 (GRCm39) E269K probably damaging Het
Zfp932 T C 5: 110,156,581 (GRCm39) M92T 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
IGL02499:Sqor APN 2 122,650,007 (GRCm39) missense possibly damaging 0.93
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 2 122,626,900 (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
Predicted Primers PCR Primer
(F):5'- CAGTGTCAAAGCTAGGACTCATC -3'
(R):5'- TTCCAAAGACTCGTTCTGGG -3'

Sequencing Primer
(F):5'- CGTAGGTTGTTCCAGACATGACATC -3'
(R):5'- GTCCACATGATAGCTATTCAGAGGC -3'
Posted On 2018-09-12