Incidental Mutation 'R6020:Sox6'
ID 478866
Institutional Source Beutler Lab
Gene Symbol Sox6
Ensembl Gene ENSMUSG00000051910
Gene Name SRY (sex determining region Y)-box 6
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6020 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 115070107-115638031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115085863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 659 (D659E)
Ref Sequence ENSEMBL: ENSMUSP00000145919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072804] [ENSMUST00000106612] [ENSMUST00000166207] [ENSMUST00000166877] [ENSMUST00000169129] [ENSMUST00000205405] [ENSMUST00000206034] [ENSMUST00000206369]
AlphaFold P40645
Predicted Effect possibly damaging
Transcript: ENSMUST00000072804
AA Change: D700E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: D700E

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 possibly damaging
Transcript: ENSMUST00000106612
AA Change: D658E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: D658E

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 possibly damaging
Transcript: ENSMUST00000166207
AA Change: D700E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: D700E

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 possibly damaging
Transcript: ENSMUST00000166877
AA Change: D660E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: D660E

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 possibly damaging
Transcript: ENSMUST00000169129
AA Change: D660E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: D660E

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 possibly damaging
Transcript: ENSMUST00000205405
AA Change: D701E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000206034
AA Change: D659E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206369
AA Change: D701E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C A 11: 110,036,439 (GRCm39) V557F possibly damaging Het
Abi3 A T 11: 95,732,851 (GRCm39) L41* probably null Het
Actn1 C A 12: 80,221,229 (GRCm39) probably null Het
Adamts15 G T 9: 30,813,358 (GRCm39) R936S probably benign Het
Angel2 T C 1: 190,665,068 (GRCm39) S22P probably benign Het
Ank2 T G 3: 126,740,470 (GRCm39) probably benign Het
Astn1 A G 1: 158,337,563 (GRCm39) D423G probably damaging Het
Casp9 A G 4: 141,523,849 (GRCm39) D78G probably damaging Het
Cbr4 A G 8: 61,940,887 (GRCm39) D2G probably benign Het
Ccdc8 T A 7: 16,730,506 (GRCm39) L665H probably damaging Het
Cdh23 T A 10: 60,167,105 (GRCm39) N1847I probably damaging Het
Cnst T C 1: 179,437,440 (GRCm39) W335R probably benign Het
Ddr2 T A 1: 169,832,671 (GRCm39) I130F probably benign Het
Dnah2 C T 11: 69,391,665 (GRCm39) A677T probably benign Het
Dzip3 C A 16: 48,772,205 (GRCm39) W488L probably damaging Het
Ephb3 T G 16: 21,040,763 (GRCm39) I637S probably damaging Het
Etv3 A G 3: 87,436,671 (GRCm39) D142G probably benign Het
Fabp5 C T 3: 10,081,149 (GRCm39) T126I probably benign Het
Fam13b A C 18: 34,627,827 (GRCm39) Y125D probably damaging Het
Fsip2 C A 2: 82,822,471 (GRCm39) P6068Q probably damaging Het
Gm11232 A G 4: 71,674,905 (GRCm39) F199S possibly damaging Het
Gm5493 A G 17: 22,967,034 (GRCm39) K57E probably benign Het
Gm7334 A G 17: 51,006,265 (GRCm39) M184V probably benign Het
Gm9894 T C 13: 67,911,954 (GRCm39) noncoding transcript Het
Gpd2 T A 2: 57,254,525 (GRCm39) N674K probably benign Het
H2-M10.6 A G 17: 37,123,959 (GRCm39) Y141C probably damaging Het
Heatr5a C T 12: 51,931,110 (GRCm39) E1796K probably benign Het
Hexim2 A G 11: 103,029,118 (GRCm39) T57A probably benign Het
Hrg A T 16: 22,773,268 (GRCm39) N134Y probably damaging Het
Hsd17b12 T C 2: 93,864,322 (GRCm39) T262A probably damaging Het
Irak3 G T 10: 119,979,042 (GRCm39) P470T probably damaging Het
Itgbl1 A T 14: 124,083,977 (GRCm39) D285V probably damaging Het
Kcp A T 6: 29,502,863 (GRCm39) V164E probably benign Het
Klhdc7b T A 15: 89,272,589 (GRCm39) M1157K probably damaging Het
Lcor G A 19: 41,571,986 (GRCm39) G247D possibly damaging Het
Mdc1 G A 17: 36,159,525 (GRCm39) G635D probably benign Het
Mdc1 A G 17: 36,168,464 (GRCm39) K1690R probably benign Het
Mpp3 A T 11: 101,909,365 (GRCm39) probably benign Het
Ncor2 G T 5: 125,097,075 (GRCm39) H2285N probably benign Het
Neb T A 2: 52,147,839 (GRCm39) T2727S probably benign Het
Nkx6-2 T C 7: 139,161,483 (GRCm39) D234G possibly damaging Het
Nlrp9c T C 7: 26,084,150 (GRCm39) I476M probably benign Het
Nrsn1 T G 13: 25,437,355 (GRCm39) Q191P probably damaging Het
Or14j10 A T 17: 37,934,858 (GRCm39) S223T possibly damaging Het
Or1e30 C T 11: 73,678,378 (GRCm39) L205F probably benign Het
Or51ag1 T A 7: 103,156,006 (GRCm39) H49L probably benign Het
Patl1 T G 19: 11,914,718 (GRCm39) L623R probably damaging Het
Pdc T C 1: 150,209,117 (GRCm39) I200T probably benign Het
Pdzk1 A G 3: 96,775,742 (GRCm39) D370G probably benign Het
Pglyrp3 A T 3: 91,938,841 (GRCm39) I339F probably damaging Het
Plxnb1 T C 9: 108,945,679 (GRCm39) V2070A probably damaging Het
Poln G A 5: 34,266,775 (GRCm39) R461C probably damaging Het
Prl2b1 C A 13: 27,567,491 (GRCm39) V218L probably damaging Het
Pygl T C 12: 70,263,428 (GRCm39) D55G probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsrp1 T C 4: 134,651,692 (GRCm39) F152S probably damaging Het
Sim2 T C 16: 93,898,110 (GRCm39) S115P probably damaging Het
Slc17a1 T A 13: 24,059,593 (GRCm39) I108K possibly damaging Het
Slc30a8 A G 15: 52,189,054 (GRCm39) D223G probably damaging Het
Slc39a4 A T 15: 76,500,342 (GRCm39) N69K probably benign Het
Slc51a T G 16: 32,298,584 (GRCm39) T58P probably damaging Het
Slc7a14 T C 3: 31,278,261 (GRCm39) H448R probably benign Het
Smc3 G A 19: 53,613,594 (GRCm39) probably null Het
Stard9 GCCC GCC 2: 120,524,196 (GRCm39) probably null Het
Tsr1 C T 11: 74,791,119 (GRCm39) probably null Het
Ttc12 T C 9: 49,354,422 (GRCm39) K565E probably damaging Het
Ube4b A T 4: 149,452,768 (GRCm39) V386E probably benign Het
Ush2a T A 1: 188,460,293 (GRCm39) probably null Het
Usp5 C A 6: 124,794,576 (GRCm39) probably benign Het
Vmn1r216 T C 13: 23,284,105 (GRCm39) F263L probably benign Het
Vmn2r88 T A 14: 51,655,606 (GRCm39) L606* probably null Het
Wee2 T A 6: 40,426,554 (GRCm39) probably null Het
Zfhx3 T C 8: 109,519,159 (GRCm39) Y94H probably damaging Het
Zfp385c G A 11: 100,523,594 (GRCm39) P120L probably benign Het
Zscan4-ps3 T C 7: 11,344,228 (GRCm39) F62S probably damaging Het
Other mutations in Sox6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Sox6 APN 7 115,076,441 (GRCm39) missense probably benign
IGL00957:Sox6 APN 7 115,376,327 (GRCm39) missense probably damaging 1.00
IGL01624:Sox6 APN 7 115,076,203 (GRCm39) missense probably damaging 1.00
IGL02057:Sox6 APN 7 115,149,310 (GRCm39) missense probably damaging 1.00
IGL02385:Sox6 APN 7 115,149,274 (GRCm39) missense possibly damaging 0.77
IGL02410:Sox6 APN 7 115,085,979 (GRCm39) missense probably damaging 1.00
IGL02736:Sox6 APN 7 115,179,875 (GRCm39) missense probably damaging 1.00
IGL02747:Sox6 APN 7 115,088,981 (GRCm39) missense probably damaging 1.00
IGL02792:Sox6 APN 7 115,140,884 (GRCm39) missense probably benign
PIT4480001:Sox6 UTSW 7 115,196,744 (GRCm39) missense probably benign 0.03
R0458:Sox6 UTSW 7 115,089,029 (GRCm39) missense probably damaging 1.00
R0689:Sox6 UTSW 7 115,085,786 (GRCm39) missense probably damaging 1.00
R0800:Sox6 UTSW 7 115,178,249 (GRCm39) critical splice donor site probably null
R1220:Sox6 UTSW 7 115,261,677 (GRCm39) missense probably damaging 1.00
R1474:Sox6 UTSW 7 115,300,926 (GRCm39) splice site probably benign
R1547:Sox6 UTSW 7 115,300,957 (GRCm39) missense possibly damaging 0.93
R1570:Sox6 UTSW 7 115,376,358 (GRCm39) missense probably damaging 1.00
R1674:Sox6 UTSW 7 115,400,654 (GRCm39) missense probably benign 0.00
R1704:Sox6 UTSW 7 115,076,183 (GRCm39) missense possibly damaging 0.92
R1754:Sox6 UTSW 7 115,076,290 (GRCm39) missense probably benign
R1833:Sox6 UTSW 7 115,376,328 (GRCm39) missense probably damaging 1.00
R1868:Sox6 UTSW 7 115,258,773 (GRCm39) missense possibly damaging 0.89
R1893:Sox6 UTSW 7 115,143,803 (GRCm39) missense probably benign 0.28
R2386:Sox6 UTSW 7 115,196,740 (GRCm39) missense probably damaging 1.00
R2431:Sox6 UTSW 7 115,149,242 (GRCm39) splice site probably null
R4303:Sox6 UTSW 7 115,143,704 (GRCm39) critical splice donor site probably null
R4319:Sox6 UTSW 7 115,179,798 (GRCm39) critical splice donor site probably null
R4320:Sox6 UTSW 7 115,179,798 (GRCm39) critical splice donor site probably null
R4321:Sox6 UTSW 7 115,179,798 (GRCm39) critical splice donor site probably null
R4323:Sox6 UTSW 7 115,179,798 (GRCm39) critical splice donor site probably null
R4335:Sox6 UTSW 7 115,111,959 (GRCm39) missense probably benign
R4567:Sox6 UTSW 7 115,261,557 (GRCm39) missense probably benign 0.26
R4776:Sox6 UTSW 7 115,140,905 (GRCm39) missense probably damaging 1.00
R4838:Sox6 UTSW 7 115,085,897 (GRCm39) missense probably damaging 1.00
R4914:Sox6 UTSW 7 115,076,199 (GRCm39) missense probably damaging 1.00
R4915:Sox6 UTSW 7 115,076,199 (GRCm39) missense probably damaging 1.00
R5184:Sox6 UTSW 7 115,376,463 (GRCm39) missense probably damaging 1.00
R5372:Sox6 UTSW 7 115,149,386 (GRCm39) nonsense probably null
R5454:Sox6 UTSW 7 115,301,008 (GRCm39) missense possibly damaging 0.89
R5663:Sox6 UTSW 7 115,149,289 (GRCm39) missense probably benign
R5685:Sox6 UTSW 7 115,178,392 (GRCm39) splice site probably null
R5734:Sox6 UTSW 7 115,140,856 (GRCm39) critical splice donor site probably null
R6211:Sox6 UTSW 7 115,400,697 (GRCm39) missense probably damaging 1.00
R6263:Sox6 UTSW 7 115,076,295 (GRCm39) missense probably damaging 1.00
R6549:Sox6 UTSW 7 115,085,927 (GRCm39) missense possibly damaging 0.79
R6576:Sox6 UTSW 7 115,300,937 (GRCm39) missense probably damaging 0.96
R6680:Sox6 UTSW 7 115,076,218 (GRCm39) missense possibly damaging 0.94
R6709:Sox6 UTSW 7 115,301,024 (GRCm39) splice site probably null
R6747:Sox6 UTSW 7 115,140,966 (GRCm39) missense probably damaging 1.00
R6755:Sox6 UTSW 7 115,261,677 (GRCm39) missense probably damaging 0.99
R7233:Sox6 UTSW 7 115,089,044 (GRCm39) missense possibly damaging 0.80
R7423:Sox6 UTSW 7 115,149,258 (GRCm39) missense probably benign 0.30
R7455:Sox6 UTSW 7 115,088,904 (GRCm39) missense probably benign 0.02
R7522:Sox6 UTSW 7 115,400,813 (GRCm39) missense probably damaging 1.00
R7527:Sox6 UTSW 7 115,376,408 (GRCm39) missense probably benign 0.00
R7852:Sox6 UTSW 7 115,400,839 (GRCm39) start codon destroyed probably null 1.00
R7936:Sox6 UTSW 7 115,143,830 (GRCm39) missense probably benign
R8278:Sox6 UTSW 7 115,076,199 (GRCm39) missense probably damaging 1.00
R8335:Sox6 UTSW 7 115,300,949 (GRCm39) missense probably damaging 1.00
R8558:Sox6 UTSW 7 115,141,033 (GRCm39) missense probably benign 0.12
R8682:Sox6 UTSW 7 115,076,191 (GRCm39) missense probably damaging 1.00
R8693:Sox6 UTSW 7 115,261,632 (GRCm39) missense probably damaging 0.99
R8712:Sox6 UTSW 7 115,196,743 (GRCm39) missense probably benign 0.00
R8972:Sox6 UTSW 7 115,076,218 (GRCm39) nonsense probably null
R9297:Sox6 UTSW 7 115,261,557 (GRCm39) missense probably benign 0.26
R9318:Sox6 UTSW 7 115,261,557 (GRCm39) missense probably benign 0.26
R9517:Sox6 UTSW 7 115,111,970 (GRCm39) missense possibly damaging 0.79
R9688:Sox6 UTSW 7 115,076,225 (GRCm39) missense probably benign
X0061:Sox6 UTSW 7 115,076,383 (GRCm39) missense probably benign 0.00
X0065:Sox6 UTSW 7 115,149,343 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTCATACCTTCCACGTGTCAC -3'
(R):5'- GTCTGGAAGGTGTCACCATC -3'

Sequencing Primer
(F):5'- TTCCACGTGTCACAACCC -3'
(R):5'- GAAGGTGTCACCATCCTTGTGAC -3'
Posted On 2017-06-26