Incidental Mutation 'R6527:Sqor'
ID 521940
Institutional Source Beutler Lab
Gene Symbol Sqor
Ensembl Gene ENSMUSG00000005803
Gene Name sulfide quinone oxidoreductase
Synonyms 0610039J17Rik, Sqrdl, 4930557M22Rik, flavo-binding protein
MMRRC Submission 044653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 122607249-122651473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122651206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 434 (Y434C)
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: Y434C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005953
Gene: ENSMUSG00000005803
AA Change: Y434C

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: Y434C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106133
Gene: ENSMUSG00000005803
AA Change: Y434C

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 silent
Transcript: ENSMUST00000176343
SMART Domains Protein: ENSMUSP00000135786
Gene: ENSMUSG00000005803

DomainStartEndE-ValueType
SCOP:d1fl2a1 25 132 6e-8 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,288 (GRCm39) T826A probably damaging Het
Abca16 T A 7: 120,076,995 (GRCm39) I686N possibly damaging Het
Abcb6 T C 1: 75,154,132 (GRCm39) probably null Het
Adgrl3 A C 5: 81,935,364 (GRCm39) E1299A probably damaging Het
Amd2 A C 10: 35,586,802 (GRCm39) Y252D probably damaging Het
Cfap74 A G 4: 155,506,722 (GRCm39) probably null Het
Dhx29 G T 13: 113,069,076 (GRCm39) K135N probably damaging Het
Dlg5 T A 14: 24,240,516 (GRCm39) D245V possibly damaging Het
Dscaml1 C T 9: 45,623,482 (GRCm39) Q83* probably null Het
Dsp T A 13: 38,379,849 (GRCm39) L1599Q probably damaging Het
Duox2 A G 2: 122,125,095 (GRCm39) V369A probably benign Het
Flacc1 T C 1: 58,731,572 (GRCm39) M1V probably null Het
Gbe1 T A 16: 70,230,560 (GRCm39) probably null Het
Gm7298 A G 6: 121,746,669 (GRCm39) K600R probably benign Het
Heatr4 C T 12: 84,026,537 (GRCm39) G240E probably damaging Het
Jakmip2 A G 18: 43,689,589 (GRCm39) V651A possibly damaging Het
Jam3 C T 9: 27,066,640 (GRCm39) R8Q unknown Het
Letm2 A G 8: 26,082,522 (GRCm39) probably benign Het
Lmod3 T C 6: 97,224,339 (GRCm39) D494G probably benign Het
Mast2 T C 4: 116,172,136 (GRCm39) D604G probably damaging Het
Mif4gd C T 11: 115,500,101 (GRCm39) probably null Het
Msr1 T C 8: 40,077,274 (GRCm39) E112G possibly damaging Het
Mtus2 A G 5: 148,214,408 (GRCm39) probably null Het
Muc4 A G 16: 32,753,433 (GRCm38) H1103R probably benign Het
Nudt14 T A 12: 112,898,507 (GRCm39) I198F possibly damaging Het
Or11j4 T A 14: 50,630,885 (GRCm39) L224* probably null Het
Or13p3 T A 4: 118,567,045 (GRCm39) F147Y possibly damaging Het
Or1n1b T C 2: 36,780,594 (GRCm39) T89A probably benign Het
Osbpl8 T C 10: 111,129,066 (GRCm39) I884T probably benign Het
Podxl2 T C 6: 88,819,912 (GRCm39) N550S probably damaging Het
Ppp1r9a A G 6: 5,045,949 (GRCm39) Y151C probably damaging Het
Prss42 T C 9: 110,629,924 (GRCm39) V226A possibly damaging Het
Psmd12 A G 11: 107,379,794 (GRCm39) I116V probably damaging Het
Psme4 A C 11: 30,782,175 (GRCm39) I872L probably benign Het
Rab11fip1 A T 8: 27,664,420 (GRCm39) V65E probably damaging Het
Ros1 T C 10: 52,019,473 (GRCm39) N700S possibly damaging Het
Slc15a4 G A 5: 127,673,773 (GRCm39) T547M probably damaging Het
Slfn3 T A 11: 83,103,932 (GRCm39) C268S probably benign Het
Smc5 T C 19: 23,205,554 (GRCm39) Q794R probably benign Het
Steap4 T A 5: 8,028,502 (GRCm39) L360H probably damaging Het
Sycp1 A G 3: 102,806,203 (GRCm39) V496A probably benign Het
Tmem161b T G 13: 84,420,383 (GRCm39) M128R probably benign Het
Tmem59l T C 8: 70,938,775 (GRCm39) E102G probably damaging Het
Tnks A T 8: 35,340,247 (GRCm39) V457D probably benign Het
Tomt A G 7: 101,549,599 (GRCm39) Y230H probably damaging Het
Trim37 A G 11: 87,080,910 (GRCm39) N561D probably damaging Het
V1ra8 T A 6: 90,180,295 (GRCm39) I166K probably damaging Het
Vmn1r56 A G 7: 5,199,575 (GRCm39) V14A probably benign Het
Vsig8 T C 1: 172,387,925 (GRCm39) V5A possibly damaging Het
Vwa8 A T 14: 79,184,653 (GRCm39) S384C possibly damaging Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zfp984 T C 4: 147,840,381 (GRCm39) N157D probably benign Het
Zzef1 G A 11: 72,765,816 (GRCm39) D1448N 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
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
Predicted Primers PCR Primer
(F):5'- TCACACAGCAAATTCAGTGTC -3'
(R):5'- TCTGGGTTGTCCACATGATAGC -3'

Sequencing Primer
(F):5'- TCAGTGTCAAAGCTAGGACTCATCG -3'
(R):5'- GTCCACATGATAGCTATTCAGAGGC -3'
Posted On 2018-06-06