Incidental Mutation 'R7423:Sox6'
ID 575828
Institutional Source Beutler Lab
Gene Symbol Sox6
Ensembl Gene ENSMUSG00000051910
Gene Name SRY (sex determining region Y)-box 6
Synonyms
MMRRC Submission 045501-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7423 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 115070107-115638031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115149258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 413 (V413E)
Ref Sequence ENSEMBL: ENSMUSP00000072583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072804] [ENSMUST00000106612] [ENSMUST00000166207] [ENSMUST00000166877] [ENSMUST00000169129] [ENSMUST00000205405] [ENSMUST00000206034] [ENSMUST00000206369]
AlphaFold P40645
Predicted Effect probably benign
Transcript: ENSMUST00000072804
AA Change: V413E

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: V413E

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: V371E

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: V371E

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: V413E

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: V413E

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: V373E

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: V373E

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: V373E

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: V373E

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: V414E

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000206034
AA Change: V372E

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000206369
AA Change: V414E

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (91/95)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A T 17: 57,175,257 (GRCm39) M85K probably benign Het
Actn4 C T 7: 28,593,680 (GRCm39) A905T probably damaging Het
Aff1 T A 5: 103,994,967 (GRCm39) V1055D probably damaging Het
Aox3 A G 1: 58,160,228 (GRCm39) E137G possibly damaging Het
Apaf1 A T 10: 90,895,468 (GRCm39) D443E probably damaging Het
Arl5b C A 2: 15,072,983 (GRCm39) A28E probably damaging Het
Atg16l1 T C 1: 87,714,023 (GRCm39) V478A probably damaging Het
Atp6v1f G C 6: 29,468,105 (GRCm39) E13Q probably null Het
Atpaf1 A T 4: 115,647,827 (GRCm39) K162M probably damaging Het
C3 A T 17: 57,521,767 (GRCm39) L1100Q probably damaging Het
Ccr1 A G 9: 123,764,422 (GRCm39) L36P probably damaging Het
Cct3 T C 3: 88,216,503 (GRCm39) L153S probably benign Het
Chd4 A G 6: 125,105,822 (GRCm39) D1813G possibly damaging Het
Chrm3 T C 13: 9,928,845 (GRCm39) I64V probably benign Het
Cnot2 A T 10: 116,328,303 (GRCm39) V477E probably damaging Het
Csf2rb2 T A 15: 78,176,760 (GRCm39) I211F possibly damaging Het
Dnah8 T C 17: 30,923,743 (GRCm39) L1237P possibly damaging Het
Dnttip2 T C 3: 122,069,175 (GRCm39) V130A probably benign Het
Dock10 G A 1: 80,501,497 (GRCm39) A1852V possibly damaging Het
Dock3 A G 9: 106,844,370 (GRCm39) V910A probably damaging Het
Drgx A G 14: 32,350,778 (GRCm39) S205G probably damaging Het
Fbrs G A 7: 127,088,633 (GRCm39) W738* probably null Het
Fmnl3 T A 15: 99,227,281 (GRCm39) D162V probably damaging Het
Fosl2 A G 5: 32,307,807 (GRCm39) R133G probably damaging Het
Frmpd1 A G 4: 45,256,948 (GRCm39) Q172R probably damaging Het
Fsd1l A T 4: 53,686,406 (GRCm39) D273V probably damaging Het
Fstl4 T A 11: 52,959,382 (GRCm39) M141K possibly damaging Het
Gcfc2 A G 6: 81,923,541 (GRCm39) D535G probably damaging Het
Gm19410 A C 8: 36,271,761 (GRCm39) D1277A probably benign Het
Gnmt T A 17: 47,037,066 (GRCm39) N211Y probably damaging Het
Hic2 A G 16: 17,075,993 (GRCm39) D274G probably damaging Het
Hnrnpu A G 1: 178,156,849 (GRCm39) probably benign Het
Icam5 T C 9: 20,948,201 (GRCm39) S670P probably benign Het
Ighv5-4 A T 12: 113,561,120 (GRCm39) L100Q probably damaging Het
Il17rb A T 14: 29,719,072 (GRCm39) S337T probably damaging Het
Inf2 G T 12: 112,576,172 (GRCm39) R883L unknown Het
Inhbc C T 10: 127,193,275 (GRCm39) C247Y probably damaging Het
Ints4 A G 7: 97,156,926 (GRCm39) K333E probably damaging Het
Iyd A T 10: 3,497,088 (GRCm39) I148F probably damaging Het
Klk1b26 A T 7: 43,664,193 (GRCm39) D16V probably damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lama2 A T 10: 27,088,222 (GRCm39) S852T probably benign Het
Mbtd1 A G 11: 93,834,622 (GRCm39) E600G probably benign Het
Mfap3 T G 11: 57,420,329 (GRCm39) N103K probably damaging Het
Mtor G A 4: 148,640,801 (GRCm39) E2536K possibly damaging Het
Mug2 G A 6: 122,056,685 (GRCm39) S1210N probably benign Het
Nat8 G A 6: 85,807,477 (GRCm39) L219F probably benign Het
Nisch A G 14: 30,893,658 (GRCm39) V1305A probably benign Het
Nup153 A T 13: 46,850,120 (GRCm39) probably null Het
Or3a1b G A 11: 74,012,811 (GRCm39) R232H probably benign Het
Otud6b A T 4: 14,825,858 (GRCm39) probably null Het
Pbld2 A G 10: 62,883,783 (GRCm39) T83A probably damaging Het
Pcx A T 19: 4,671,206 (GRCm39) M1144L probably benign Het
Pdpk1 C A 17: 24,329,874 (GRCm39) R81L probably benign Het
Pik3cd A T 4: 149,736,220 (GRCm39) probably null Het
Plch2 A C 4: 155,068,194 (GRCm39) D1477E probably damaging Het
Plek2 A G 12: 78,946,884 (GRCm39) I51T probably damaging Het
Plekhn1 A G 4: 156,315,142 (GRCm39) V505A probably benign Het
Pofut2 T C 10: 77,098,273 (GRCm39) S129P possibly damaging Het
Prdx5 C A 19: 6,887,370 (GRCm39) probably benign Het
Proca1 G T 11: 78,085,643 (GRCm39) probably benign Het
Ptprs A C 17: 56,721,793 (GRCm39) Y1752D probably damaging Het
Pum1 G A 4: 130,501,856 (GRCm39) V1127M probably damaging Het
Ralbp1 T C 17: 66,165,976 (GRCm39) R403G probably damaging Het
Reps1 A T 10: 17,969,635 (GRCm39) H246L possibly damaging Het
Rps6kc1 A C 1: 190,531,293 (GRCm39) M903R probably damaging Het
Rubcnl A G 14: 75,287,083 (GRCm39) T584A probably benign Het
Samd9l A T 6: 3,374,408 (GRCm39) V951E probably damaging Het
Sbf2 A G 7: 110,038,055 (GRCm39) F463L possibly damaging Het
Sdr16c6 G A 4: 4,076,921 (GRCm39) probably benign Het
Shoc1 A T 4: 59,076,264 (GRCm39) S560T probably benign Het
Slc26a8 A G 17: 28,867,177 (GRCm39) I548T probably benign Het
Slc2a13 T A 15: 91,456,883 (GRCm39) I140F probably damaging Het
Smtn A T 11: 3,481,200 (GRCm39) probably null Het
Sobp G T 10: 42,898,564 (GRCm39) C340* probably null Het
Spin1 T C 13: 51,277,326 (GRCm39) probably null Het
Sra1 T C 18: 36,800,536 (GRCm39) T224A probably benign Het
Sv2c A T 13: 96,185,056 (GRCm39) F207Y probably benign Het
Tcp10c T A 17: 13,581,503 (GRCm39) probably null Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tpgs1 G T 10: 79,511,655 (GRCm39) A266S probably damaging Het
Tprg1 T G 16: 25,241,003 (GRCm39) S260A probably damaging Het
Trdv2-1 T A 14: 54,183,935 (GRCm39) W56R probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trpc4 T A 3: 54,225,450 (GRCm39) V933E probably benign Het
Ulk4 A T 9: 120,932,687 (GRCm39) M1051K possibly damaging Het
Unc119b A G 5: 115,272,743 (GRCm39) L76P probably damaging Het
Vmn2r15 G A 5: 109,445,394 (GRCm39) S10F probably benign Het
Vwce A G 19: 10,641,704 (GRCm39) E810G probably benign Het
Wdr7 T A 18: 63,910,451 (GRCm39) probably null Het
Wnk2 T A 13: 49,191,608 (GRCm39) E1283V probably benign Het
Zfp28 T C 7: 6,396,956 (GRCm39) C464R probably damaging Het
Zpld1 C T 16: 55,054,027 (GRCm39) C255Y 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
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
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'- TTGGAGTTCGGTAAGCATCTC -3'
(R):5'- ATGAGACCGATGTTTGCCTTCTC -3'

Sequencing Primer
(F):5'- GTTATCAAAAGGGGAACACCTGCTTC -3'
(R):5'- CTGTTTTGCAGCAGCTCTATG -3'
Posted On 2019-10-07