Incidental Mutation 'R6747:Sox6'
ID 530589
Institutional Source Beutler Lab
Gene Symbol Sox6
Ensembl Gene ENSMUSG00000051910
Gene Name SRY (sex determining region Y)-box 6
Synonyms
MMRRC Submission 044864-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6747 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 115470872-116038796 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to G at 115541731 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 505 (R505P)
Ref Sequence ENSEMBL: ENSMUSP00000145931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072804] [ENSMUST00000106612] [ENSMUST00000166207] [ENSMUST00000166877] [ENSMUST00000169129] [ENSMUST00000205405] [ENSMUST00000206034] [ENSMUST00000206369]
AlphaFold P40645
Predicted Effect probably damaging
Transcript: ENSMUST00000072804
AA Change: R504P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: R504P

DomainStartEndE-ValueType
coiled coil region 184 261 N/A INTRINSIC
low complexity region 462 484 N/A INTRINSIC
low complexity region 507 517 N/A INTRINSIC
HMG 619 689 1.5e-25 SMART
low complexity region 797 809 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106612
AA Change: R462P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: R462P

DomainStartEndE-ValueType
coiled coil region 184 261 N/A INTRINSIC
low complexity region 323 333 N/A INTRINSIC
low complexity region 420 442 N/A INTRINSIC
low complexity region 465 475 N/A INTRINSIC
HMG 577 647 1.5e-25 SMART
low complexity region 755 767 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166207
AA Change: R504P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: R504P

DomainStartEndE-ValueType
coiled coil region 184 261 N/A INTRINSIC
low complexity region 462 484 N/A INTRINSIC
low complexity region 507 517 N/A INTRINSIC
HMG 619 689 1.5e-25 SMART
low complexity region 797 809 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166877
AA Change: R464P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: R464P

DomainStartEndE-ValueType
coiled coil region 184 263 N/A INTRINSIC
low complexity region 324 335 N/A INTRINSIC
low complexity region 422 444 N/A INTRINSIC
low complexity region 467 477 N/A INTRINSIC
HMG 579 649 1.5e-25 SMART
low complexity region 757 769 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169129
AA Change: R464P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: R464P

DomainStartEndE-ValueType
coiled coil region 184 263 N/A INTRINSIC
low complexity region 324 335 N/A INTRINSIC
low complexity region 422 444 N/A INTRINSIC
low complexity region 467 477 N/A INTRINSIC
HMG 579 649 1.5e-25 SMART
low complexity region 757 769 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205405
AA Change: R505P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205980
Predicted Effect probably damaging
Transcript: ENSMUST00000206034
AA Change: R463P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000206369
AA Change: R505P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206775
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: This gene encodes a member of a family of transcriptional regulators containing high mobility group (HMG) DNA-binding domains. Function of the encoded protein is important for proper cardiac and skeletal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for null mutations exhibit cardioskeletal myopathy, cardiac blockage, delayed growth, and early postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C T 3: 122,126,313 (GRCm38) probably null Het
Acyp1 C T 12: 85,278,905 (GRCm38) V107I probably null Het
Aftph T C 11: 20,726,144 (GRCm38) probably null Het
Agtpbp1 A T 13: 59,544,353 (GRCm38) probably null Het
Arhgap15 C A 2: 44,116,677 (GRCm38) P269T probably damaging Het
Arhgap30 T C 1: 171,407,729 (GRCm38) V557A probably damaging Het
Asb3 T A 11: 31,081,493 (GRCm38) M410K probably benign Het
B4galnt2 T C 11: 95,868,634 (GRCm38) probably null Het
Birc3 A G 9: 7,860,261 (GRCm38) probably null Het
Cav2 A T 6: 17,286,951 (GRCm38) N69Y probably damaging Het
Cc2d2b G A 19: 40,795,667 (GRCm38) C826Y probably benign Het
Cenpf T A 1: 189,652,854 (GRCm38) T2410S probably benign Het
Chchd1 A G 14: 20,703,380 (GRCm38) D24G probably benign Het
Cmip G A 8: 117,436,879 (GRCm38) G450S probably benign Het
Col11a1 C T 3: 114,212,450 (GRCm38) Q534* probably null Het
Col3a1 G T 1: 45,338,622 (GRCm38) probably benign Het
Cox4i1 T C 8: 120,673,230 (GRCm38) I31T possibly damaging Het
Cstf3 G T 2: 104,646,767 (GRCm38) V168F probably damaging Het
Dapk1 T C 13: 60,725,340 (GRCm38) I352T probably benign Het
Ddx52 T C 11: 83,955,302 (GRCm38) V456A probably damaging Het
Dmxl2 A T 9: 54,416,088 (GRCm38) H1337Q probably damaging Het
Dnah7a T C 1: 53,636,062 (GRCm38) T369A probably benign Het
Dppa1 T A 11: 46,625,595 (GRCm38) I8F unknown Het
Ebf1 G T 11: 44,883,814 (GRCm38) V213F probably damaging Het
Foxb2 C A 19: 16,872,833 (GRCm38) E270* probably null Het
Gclc A T 9: 77,788,245 (GRCm38) R450W probably damaging Het
Grin2d T C 7: 45,862,268 (GRCm38) E251G probably damaging Het
Hal A T 10: 93,500,677 (GRCm38) N423Y probably damaging Het
Krtap4-8 T A 11: 99,780,091 (GRCm38) I185F unknown Het
Lrp3 T A 7: 35,211,437 (GRCm38) Q61L probably benign Het
Met A C 6: 17,571,467 (GRCm38) Q1296H probably damaging Het
Mphosph9 T A 5: 124,297,699 (GRCm38) N557I possibly damaging Het
Mrpl46 C A 7: 78,782,981 (GRCm38) W16C probably benign Het
Myh13 G A 11: 67,350,419 (GRCm38) R874Q probably damaging Het
Nelfb G A 2: 25,203,381 (GRCm38) T453I probably benign Het
Nos2 A G 11: 78,952,954 (GRCm38) D909G probably damaging Het
Nr5a2 T C 1: 136,882,344 (GRCm38) E431G possibly damaging Het
Nsmce2 A G 15: 59,591,724 (GRCm38) D149G probably benign Het
Or52b1 C T 7: 105,330,027 (GRCm38) R55H probably benign Het
Or5ac21 T C 16: 59,303,641 (GRCm38) F164L probably benign Het
Pcbp4 C A 9: 106,460,648 (GRCm38) probably null Het
Peg10 A G 6: 4,757,137 (GRCm38) probably benign Het
Pms2 C T 5: 143,925,419 (GRCm38) P154L probably benign Het
Pou6f2 A C 13: 18,129,187 (GRCm38) L112R probably benign Het
Pramel30 T C 4: 144,332,978 (GRCm38) W420R probably benign Het
Prdm6 A T 18: 53,465,046 (GRCm38) probably benign Het
Prob1 G A 18: 35,655,154 (GRCm38) R12W probably damaging Het
Rif1 T A 2: 52,078,263 (GRCm38) probably null Het
Rpl9-ps6 A G 19: 32,466,143 (GRCm38) S137P probably benign Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,579,906 (GRCm38) probably benign Homo
Sec23ip A G 7: 128,752,849 (GRCm38) silent Het
Slc38a9 T C 13: 112,690,180 (GRCm38) C151R probably benign Het
Slc39a8 T C 3: 135,849,180 (GRCm38) probably null Het
Slc6a18 C A 13: 73,677,991 (GRCm38) probably benign Het
Snw1 T C 12: 87,464,710 (GRCm38) D57G probably damaging Het
Speg T C 1: 75,410,395 (GRCm38) probably null Het
Spire2 C T 8: 123,356,846 (GRCm38) R190C probably damaging Het
Stard9 A C 2: 120,698,383 (GRCm38) H1707P possibly damaging Het
Tenm3 G T 8: 48,343,243 (GRCm38) T237K probably damaging Het
Themis2 T A 4: 132,796,262 (GRCm38) E31V possibly damaging Het
Trim56 T G 5: 137,114,521 (GRCm38) Q47P probably damaging Het
Trim58 T C 11: 58,651,264 (GRCm38) I350T probably benign Het
Ttll7 C T 3: 146,944,056 (GRCm38) P639S probably benign Het
Ubxn6 A G 17: 56,070,650 (GRCm38) probably null Het
Vmn2r114 A T 17: 23,309,876 (GRCm38) F417L probably benign Het
Vmn2r29 T A 7: 7,231,422 (GRCm38) M822L probably benign Het
Vps9d1 T C 8: 123,254,007 (GRCm38) D27G probably damaging Het
Wdr3 C T 3: 100,138,724 (GRCm38) R931Q probably damaging Het
Whamm G A 7: 81,578,302 (GRCm38) probably null Het
Zcchc24 T C 14: 25,757,033 (GRCm38) H142R probably damaging Het
Zfp292 T C 4: 34,806,894 (GRCm38) K2050R probably damaging Het
Other mutations in Sox6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Sox6 APN 7 115,477,206 (GRCm38) missense probably benign
IGL00957:Sox6 APN 7 115,777,092 (GRCm38) missense probably damaging 1.00
IGL01624:Sox6 APN 7 115,476,968 (GRCm38) missense probably damaging 1.00
IGL02057:Sox6 APN 7 115,550,075 (GRCm38) missense probably damaging 1.00
IGL02385:Sox6 APN 7 115,550,039 (GRCm38) missense possibly damaging 0.77
IGL02410:Sox6 APN 7 115,486,744 (GRCm38) missense probably damaging 1.00
IGL02736:Sox6 APN 7 115,580,640 (GRCm38) missense probably damaging 1.00
IGL02747:Sox6 APN 7 115,489,746 (GRCm38) missense probably damaging 1.00
IGL02792:Sox6 APN 7 115,541,649 (GRCm38) missense probably benign
PIT4480001:Sox6 UTSW 7 115,597,509 (GRCm38) missense probably benign 0.03
R0458:Sox6 UTSW 7 115,489,794 (GRCm38) missense probably damaging 1.00
R0689:Sox6 UTSW 7 115,486,551 (GRCm38) missense probably damaging 1.00
R0800:Sox6 UTSW 7 115,579,014 (GRCm38) critical splice donor site probably null
R1220:Sox6 UTSW 7 115,662,442 (GRCm38) missense probably damaging 1.00
R1474:Sox6 UTSW 7 115,701,691 (GRCm38) splice site probably benign
R1547:Sox6 UTSW 7 115,701,722 (GRCm38) missense possibly damaging 0.93
R1570:Sox6 UTSW 7 115,777,123 (GRCm38) missense probably damaging 1.00
R1674:Sox6 UTSW 7 115,801,419 (GRCm38) missense probably benign 0.00
R1704:Sox6 UTSW 7 115,476,948 (GRCm38) missense possibly damaging 0.92
R1754:Sox6 UTSW 7 115,477,055 (GRCm38) missense probably benign
R1833:Sox6 UTSW 7 115,777,093 (GRCm38) missense probably damaging 1.00
R1868:Sox6 UTSW 7 115,659,538 (GRCm38) missense possibly damaging 0.89
R1893:Sox6 UTSW 7 115,544,568 (GRCm38) missense probably benign 0.28
R2386:Sox6 UTSW 7 115,597,505 (GRCm38) missense probably damaging 1.00
R2431:Sox6 UTSW 7 115,550,007 (GRCm38) splice site probably null
R4303:Sox6 UTSW 7 115,544,469 (GRCm38) critical splice donor site probably null
R4319:Sox6 UTSW 7 115,580,563 (GRCm38) critical splice donor site probably null
R4320:Sox6 UTSW 7 115,580,563 (GRCm38) critical splice donor site probably null
R4321:Sox6 UTSW 7 115,580,563 (GRCm38) critical splice donor site probably null
R4323:Sox6 UTSW 7 115,580,563 (GRCm38) critical splice donor site probably null
R4335:Sox6 UTSW 7 115,512,724 (GRCm38) missense probably benign
R4567:Sox6 UTSW 7 115,662,322 (GRCm38) missense probably benign 0.26
R4776:Sox6 UTSW 7 115,541,670 (GRCm38) missense probably damaging 1.00
R4838:Sox6 UTSW 7 115,486,662 (GRCm38) missense probably damaging 1.00
R4914:Sox6 UTSW 7 115,476,964 (GRCm38) missense probably damaging 1.00
R4915:Sox6 UTSW 7 115,476,964 (GRCm38) missense probably damaging 1.00
R5184:Sox6 UTSW 7 115,777,228 (GRCm38) missense probably damaging 1.00
R5372:Sox6 UTSW 7 115,550,151 (GRCm38) nonsense probably null
R5454:Sox6 UTSW 7 115,701,773 (GRCm38) missense possibly damaging 0.89
R5663:Sox6 UTSW 7 115,550,054 (GRCm38) missense probably benign
R5685:Sox6 UTSW 7 115,579,157 (GRCm38) splice site probably null
R5734:Sox6 UTSW 7 115,541,621 (GRCm38) critical splice donor site probably null
R6020:Sox6 UTSW 7 115,486,628 (GRCm38) missense probably damaging 1.00
R6211:Sox6 UTSW 7 115,801,462 (GRCm38) missense probably damaging 1.00
R6263:Sox6 UTSW 7 115,477,060 (GRCm38) missense probably damaging 1.00
R6549:Sox6 UTSW 7 115,486,692 (GRCm38) missense possibly damaging 0.79
R6576:Sox6 UTSW 7 115,701,702 (GRCm38) missense probably damaging 0.96
R6680:Sox6 UTSW 7 115,476,983 (GRCm38) missense possibly damaging 0.94
R6709:Sox6 UTSW 7 115,701,789 (GRCm38) splice site probably null
R6755:Sox6 UTSW 7 115,662,442 (GRCm38) missense probably damaging 0.99
R7233:Sox6 UTSW 7 115,489,809 (GRCm38) missense possibly damaging 0.80
R7423:Sox6 UTSW 7 115,550,023 (GRCm38) missense probably benign 0.30
R7455:Sox6 UTSW 7 115,489,669 (GRCm38) missense probably benign 0.02
R7522:Sox6 UTSW 7 115,801,578 (GRCm38) missense probably damaging 1.00
R7527:Sox6 UTSW 7 115,777,173 (GRCm38) missense probably benign 0.00
R7852:Sox6 UTSW 7 115,801,604 (GRCm38) start codon destroyed probably null 1.00
R7936:Sox6 UTSW 7 115,544,595 (GRCm38) missense probably benign
R8278:Sox6 UTSW 7 115,476,964 (GRCm38) missense probably damaging 1.00
R8335:Sox6 UTSW 7 115,701,714 (GRCm38) missense probably damaging 1.00
R8558:Sox6 UTSW 7 115,541,798 (GRCm38) missense probably benign 0.12
R8682:Sox6 UTSW 7 115,476,956 (GRCm38) missense probably damaging 1.00
R8693:Sox6 UTSW 7 115,662,397 (GRCm38) missense probably damaging 0.99
R8712:Sox6 UTSW 7 115,597,508 (GRCm38) missense probably benign 0.00
R8972:Sox6 UTSW 7 115,476,983 (GRCm38) nonsense probably null
R9297:Sox6 UTSW 7 115,662,322 (GRCm38) missense probably benign 0.26
R9318:Sox6 UTSW 7 115,662,322 (GRCm38) missense probably benign 0.26
R9517:Sox6 UTSW 7 115,512,735 (GRCm38) missense possibly damaging 0.79
R9688:Sox6 UTSW 7 115,476,990 (GRCm38) missense probably benign
X0061:Sox6 UTSW 7 115,477,148 (GRCm38) missense probably benign 0.00
X0065:Sox6 UTSW 7 115,550,108 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATTACAAGGTGGCCCTCAAGC -3'
(R):5'- AGAGAATACACTGTTACCCTGGG -3'

Sequencing Primer
(F):5'- AAGCCCAGATCTTTGGTAGC -3'
(R):5'- ATACACTGTTACCCTGGGGAATG -3'
Posted On 2018-08-01