Incidental Mutation 'R9297:Sox6'
ID 704662
Institutional Source Beutler Lab
Gene Symbol Sox6
Ensembl Gene ENSMUSG00000051910
Gene Name SRY (sex determining region Y)-box 6
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9297 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 115070107-115638031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115261557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 220 (I220V)
Ref Sequence ENSEMBL: ENSMUSP00000145931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072804] [ENSMUST00000106612] [ENSMUST00000166207] [ENSMUST00000166877] [ENSMUST00000169129] [ENSMUST00000205405] [ENSMUST00000206369] [ENSMUST00000206034]
AlphaFold P40645
Predicted Effect probably benign
Transcript: ENSMUST00000072804
AA Change: I220V

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: I220V

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: I220V

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: I220V

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: I220V

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: I220V

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: I220V

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: I220V

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: I220V

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: I220V

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: I220V

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000206369
AA Change: I220V

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000206034
AA Change: I220V

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206573
Meta Mutation Damage Score 0.0695 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (73/74)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 T C 16: 85,599,534 (GRCm39) Q22R probably benign Het
Adamts20 A G 15: 94,301,321 (GRCm39) S68P possibly damaging Het
Adcy6 A T 15: 98,491,466 (GRCm39) N1044K possibly damaging Het
Ak9 T G 10: 41,299,081 (GRCm39) M1594R unknown Het
Alkbh3 A G 2: 93,835,082 (GRCm39) S88P probably damaging Het
Angpt1 A G 15: 42,301,751 (GRCm39) I419T probably benign Het
Ankrd31 A T 13: 97,015,085 (GRCm39) L1451F probably benign Het
Ap1b1 T C 11: 4,990,157 (GRCm39) I860T probably benign Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Astn2 T C 4: 65,460,960 (GRCm39) D1058G possibly damaging Het
Atg3 A G 16: 44,987,371 (GRCm39) H48R possibly damaging Het
Bnc2 A C 4: 84,474,136 (GRCm39) probably benign Het
Cadps2 A G 6: 23,496,887 (GRCm39) Y453H probably benign Het
Catsperg1 T C 7: 28,891,085 (GRCm39) T653A probably benign Het
Ccdc102a A G 8: 95,638,120 (GRCm39) S249P possibly damaging Het
Ccdc125 A G 13: 100,832,920 (GRCm39) Y499C probably damaging Het
Ccdc141 A G 2: 76,842,028 (GRCm39) F1468L probably benign Het
Ccdc162 C A 10: 41,506,110 (GRCm39) M893I probably benign Het
Ccdc33 C A 9: 57,993,876 (GRCm39) W335L possibly damaging Het
Chn2 T A 6: 54,272,840 (GRCm39) Y355N probably damaging Het
Clec4g A G 8: 3,766,500 (GRCm39) M267T probably damaging Het
Cpa6 A T 1: 10,554,273 (GRCm39) D111E possibly damaging Het
Crlf3 A G 11: 79,950,031 (GRCm39) C200R probably damaging Het
Cyp4a10 T C 4: 115,378,375 (GRCm39) S164P probably damaging Het
Def6 A G 17: 28,436,714 (GRCm39) N126S probably damaging Het
Diaph1 G A 18: 38,022,828 (GRCm39) T782I probably benign Het
Dnah5 A C 15: 28,204,054 (GRCm39) probably benign Het
Eme1 A T 11: 94,541,614 (GRCm39) S69R probably benign Het
Fat3 A T 9: 15,908,996 (GRCm39) D2335E probably damaging Het
Fstl4 A G 11: 53,024,973 (GRCm39) K282E possibly damaging Het
Galnt7 T C 8: 57,995,555 (GRCm39) E380G probably damaging Het
Gm973 A T 1: 59,583,829 (GRCm39) Y204F probably damaging Het
Hace1 T A 10: 45,528,769 (GRCm39) S337T probably benign Het
Ipo8 C A 6: 148,703,076 (GRCm39) C416F possibly damaging Het
Kcnt2 T C 1: 140,352,933 (GRCm39) I214T probably damaging Het
Kdelr3 C A 15: 79,411,275 (GRCm39) L203I probably benign Het
Kif26b C T 1: 178,543,374 (GRCm39) Q336* probably null Het
Krt36 A G 11: 99,994,271 (GRCm39) Y269H probably damaging Het
Lamc1 G T 1: 153,127,746 (GRCm39) R386S probably damaging Het
Lipc T A 9: 70,727,736 (GRCm39) D122V probably damaging Het
Lrba A G 3: 86,280,873 (GRCm39) T1841A probably damaging Het
Lrit1 T A 14: 36,783,993 (GRCm39) D440E probably damaging Het
Map4 T C 9: 109,882,480 (GRCm39) I448T probably benign Het
Megf8 G T 7: 25,030,511 (GRCm39) C488F probably damaging Het
Mllt6 A G 11: 97,563,314 (GRCm39) E299G probably damaging Het
Mpst G T 15: 78,294,642 (GRCm39) V125L probably damaging Het
Msx1 G A 5: 37,981,756 (GRCm39) probably benign Het
Muc2 A G 7: 141,302,759 (GRCm39) E473G Het
Myo15a A G 11: 60,385,899 (GRCm39) R602G probably null Het
Myod1 A T 7: 46,026,356 (GRCm39) H87L probably damaging Het
Nid1 T C 13: 13,650,897 (GRCm39) V478A possibly damaging Het
Obscn A T 11: 58,898,359 (GRCm39) I6634N unknown Het
Or52ab7 T A 7: 102,978,583 (GRCm39) Y297N probably damaging Het
Or52e7 T C 7: 104,684,830 (GRCm39) Y142H probably damaging Het
Or8k22 A G 2: 86,163,188 (GRCm39) Y171H probably benign Het
Pdgfrl C T 8: 41,391,268 (GRCm39) S66F probably damaging Het
Phf20 G A 2: 156,115,690 (GRCm39) R337H probably benign Het
Pkhd1 T A 1: 20,293,118 (GRCm39) Y2834F probably benign Het
Plekhg4 A C 8: 106,105,907 (GRCm39) E768A probably damaging Het
Prss37 A T 6: 40,491,909 (GRCm39) Y224N probably damaging Het
Ptprs A T 17: 56,765,257 (GRCm39) V9E probably damaging Het
Ptprt A G 2: 161,417,698 (GRCm39) L926S probably benign Het
Rgl1 G A 1: 152,400,454 (GRCm39) T649I possibly damaging Het
Serpinf1 A G 11: 75,307,251 (GRCm39) S29P probably damaging Het
Skint6 A T 4: 112,668,717 (GRCm39) D1119E probably benign Het
Snw1 T C 12: 87,505,674 (GRCm39) K255E probably damaging Het
Stimate T A 14: 30,588,639 (GRCm39) V122E probably damaging Het
Tas2r114 A G 6: 131,666,287 (GRCm39) I247T probably damaging Het
Tmem145 C T 7: 25,008,257 (GRCm39) T280M probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Zfp219 T C 14: 52,246,494 (GRCm39) H211R probably damaging Het
Zfp42 T C 8: 43,748,772 (GRCm39) N243S possibly damaging Het
Zkscan4 T A 13: 21,668,201 (GRCm39) S246R probably benign 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
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
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'- TCTGTACTGCTGCCTAGGATG -3'
(R):5'- GCAAGACATTCCTCAAGCTTG -3'

Sequencing Primer
(F):5'- ACTGCTGCCTAGGATGTATTTC -3'
(R):5'- GACATTCCTCAAGCTTGTGAGATTTC -3'
Posted On 2022-03-25