Incidental Mutation 'R7527:Sox6'
ID 583065
Institutional Source Beutler Lab
Gene Symbol Sox6
Ensembl Gene ENSMUSG00000051910
Gene Name SRY (sex determining region Y)-box 6
Synonyms
MMRRC Submission 045599-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 115070107-115638031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115376408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 108 (E108G)
Ref Sequence ENSEMBL: ENSMUSP00000072583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072804] [ENSMUST00000106612] [ENSMUST00000166207] [ENSMUST00000166877] [ENSMUST00000169129] [ENSMUST00000205405] [ENSMUST00000206034] [ENSMUST00000206123] [ENSMUST00000206369]
AlphaFold P40645
Predicted Effect probably benign
Transcript: ENSMUST00000072804
AA Change: E108G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: E108G

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 benign
Transcript: ENSMUST00000106612
AA Change: E108G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: E108G

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 benign
Transcript: ENSMUST00000166207
AA Change: E108G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: E108G

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 benign
Transcript: ENSMUST00000166877
AA Change: E108G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: E108G

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 benign
Transcript: ENSMUST00000169129
AA Change: E108G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: E108G

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 benign
Transcript: ENSMUST00000205405
AA Change: E108G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000206034
AA Change: E108G

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000206123
AA Change: E108G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000206369
AA Change: E108G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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
Abca5 A T 11: 110,218,556 (GRCm39) probably null Het
Abcc10 A G 17: 46,623,830 (GRCm39) S810P possibly damaging Het
Adam22 T C 5: 8,132,239 (GRCm39) H138R possibly damaging Het
Adcyap1 T A 17: 93,510,257 (GRCm39) L95* probably null Het
Adgrl4 C A 3: 151,144,887 (GRCm39) T12N probably benign Het
Alpi T C 1: 87,026,677 (GRCm39) N438S probably benign Het
Ankrd44 T C 1: 54,687,483 (GRCm39) N979D probably benign Het
Ankrd60 A C 2: 173,419,966 (GRCm39) S57A probably benign Het
Arfgef3 G A 10: 18,522,377 (GRCm39) P550S probably benign Het
Btbd16 A T 7: 130,422,202 (GRCm39) D390V probably damaging Het
Cacna2d4 T C 6: 119,248,208 (GRCm39) V374A probably benign Het
Cdcp1 A T 9: 123,014,172 (GRCm39) F201I probably benign Het
Cdh15 A T 8: 123,588,865 (GRCm39) D313V probably damaging Het
Cfap157 A G 2: 32,669,890 (GRCm39) L231P possibly damaging Het
Chl1 T G 6: 103,688,162 (GRCm39) C1001G probably damaging Het
Cmtr2 A G 8: 110,948,770 (GRCm39) H360R probably damaging Het
Csmd1 C T 8: 16,261,732 (GRCm39) A922T probably damaging Het
Fancg C T 4: 43,010,116 (GRCm39) probably benign Het
Glt8d2 A T 10: 82,488,403 (GRCm39) S356T unknown Het
Gm19410 T A 8: 36,269,386 (GRCm39) C1074S probably damaging Het
Gm9195 C T 14: 72,711,310 (GRCm39) C376Y possibly damaging Het
Gnai3 G A 3: 108,025,693 (GRCm39) R129C Het
Golph3 T G 15: 12,343,404 (GRCm39) probably null Het
H2bc18 T A 3: 96,177,186 (GRCm39) V40D possibly damaging Het
Hk1 C A 10: 62,140,561 (GRCm39) V105F probably damaging Het
Hoxd8 A G 2: 74,536,001 (GRCm39) Y37C probably damaging Het
Inava T A 1: 136,142,122 (GRCm39) D659V possibly damaging Het
Jun G T 4: 94,939,234 (GRCm39) P92Q probably damaging Het
Klhl14 C T 18: 21,784,597 (GRCm39) V277I probably damaging Het
Lrrc51 C T 7: 101,569,843 (GRCm39) probably null Het
Man2c1 T A 9: 57,045,100 (GRCm39) Y429* probably null Het
Myo18a T A 11: 77,734,406 (GRCm39) C1476S probably benign Het
Neb G C 2: 52,066,635 (GRCm39) T6155R probably damaging Het
Niban3 C G 8: 72,059,342 (GRCm39) C568W probably damaging Het
Nuf2 T C 1: 169,326,422 (GRCm39) E443G possibly damaging Het
Or10j5 C T 1: 172,784,511 (GRCm39) H50Y probably benign Het
Or4c15 A G 2: 88,760,434 (GRCm39) V75A probably benign Het
Or5d37 A T 2: 87,923,954 (GRCm39) C109S probably damaging Het
Or7g32 A G 9: 19,408,685 (GRCm39) I214V probably damaging Het
Osmr A G 15: 6,856,603 (GRCm39) S515P probably damaging Het
Pik3r5 T C 11: 68,367,177 (GRCm39) L84P probably damaging Het
Plcl1 T C 1: 55,736,273 (GRCm39) I538T probably damaging Het
Plxnb1 G T 9: 108,929,929 (GRCm39) V262L probably damaging Het
Pprc1 T C 19: 46,057,804 (GRCm39) S1320P unknown Het
Pramel47 A G 5: 95,490,409 (GRCm39) D347G probably benign Het
Prap1 G A 7: 139,676,120 (GRCm39) probably null Het
Psg23 A T 7: 18,348,699 (GRCm39) V36D probably damaging Het
Ptgr1 A G 4: 58,982,887 (GRCm39) Y49H probably damaging Het
Ptprr A G 10: 116,087,104 (GRCm39) T528A probably benign Het
Rapgef6 T C 11: 54,525,787 (GRCm39) S541P unknown Het
Rnf17 A T 14: 56,753,895 (GRCm39) D1534V probably damaging Het
Sdk1 T G 5: 141,778,731 (GRCm39) S236R possibly damaging Het
Sepsecs A G 5: 52,801,393 (GRCm39) M423T possibly damaging Het
Serpina1f T G 12: 103,658,167 (GRCm39) Y246S probably benign Het
Sftpb T A 6: 72,282,048 (GRCm39) V46E possibly damaging Het
Slc4a1ap G A 5: 31,691,475 (GRCm39) V424I probably benign Het
Slc5a4b G A 10: 75,946,742 (GRCm39) T10M probably benign Het
Slc6a16 T C 7: 44,922,063 (GRCm39) W664R probably damaging Het
Snx8 T C 5: 140,341,827 (GRCm39) E138G probably benign Het
Sptan1 A T 2: 29,870,209 (GRCm39) I120F probably damaging Het
Sptbn4 T C 7: 27,075,015 (GRCm39) E1452G possibly damaging Het
Stac2 T A 11: 97,930,452 (GRCm39) E372V probably damaging Het
Taco1 A T 11: 105,962,795 (GRCm39) I161F probably damaging Het
Taf1d C A 9: 15,220,133 (GRCm39) D127E possibly damaging Het
Tenm2 T A 11: 36,097,803 (GRCm39) N482Y probably damaging Het
Tenm3 A G 8: 48,729,635 (GRCm39) V1457A possibly damaging Het
Tmem200c A T 17: 69,148,671 (GRCm39) H418L probably benign Het
Tmem81 T C 1: 132,435,884 (GRCm39) V230A probably benign Het
Tnn C T 1: 159,946,074 (GRCm39) V915I possibly damaging Het
Trav8d-2 A T 14: 53,280,154 (GRCm39) Y48F possibly damaging Het
Trpm2 T C 10: 77,801,894 (GRCm39) N57S probably benign Het
Ttn G A 2: 76,598,383 (GRCm39) T19510M probably damaging Het
Ubl7 T C 9: 57,820,167 (GRCm39) L73P unknown Het
Uso1 A G 5: 92,347,734 (GRCm39) D845G possibly damaging Het
Utrn G T 10: 12,277,126 (GRCm39) P3397Q possibly damaging Het
Vmn2r60 AG A 7: 41,845,158 (GRCm39) probably null 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
R6020:Sox6 UTSW 7 115,085,863 (GRCm39) missense probably damaging 1.00
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
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'- CACTTCTGGCCCTTGGAATC -3'
(R):5'- AGCAGTTCTGTTTGTCTCACTG -3'

Sequencing Primer
(F):5'- AATCCTGGTTATTTTGCTATTGCCG -3'
(R):5'- CAACAATTAGGTTTTCTTCTTTCCC -3'
Posted On 2019-10-17