Incidental Mutation 'R8558:Sox6'
ID 660853
Institutional Source Beutler Lab
Gene Symbol Sox6
Ensembl Gene ENSMUSG00000051910
Gene Name SRY (sex determining region Y)-box 6
Synonyms
MMRRC Submission 068521-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8558 (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 G at 115141033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 482 (S482P)
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: S482P

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: S482P

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: S440P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: S440P

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: S482P

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: S482P

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: S442P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: S442P

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: S442P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: S442P

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: S483P

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000206034
AA Change: S441P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000206369
AA Change: S483P

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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
1700017N19Rik A T 10: 100,430,497 (GRCm39) R51S probably benign Het
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
Abcb5 T C 12: 118,841,566 (GRCm39) T960A probably benign Het
Abcc3 A G 11: 94,242,623 (GRCm39) probably null Het
Adamtsl3 A T 7: 82,077,600 (GRCm39) D95V possibly damaging Het
Ash1l T A 3: 88,891,713 (GRCm39) S1197R probably damaging Het
BC034090 T A 1: 155,097,085 (GRCm39) H671L possibly damaging Het
Bltp1 T A 3: 37,102,750 (GRCm39) M1443K Het
Btnl9 T C 11: 49,071,619 (GRCm39) E68G probably benign Het
C1qtnf1 A T 11: 118,339,149 (GRCm39) Y273F probably damaging Het
C4b A T 17: 34,955,541 (GRCm39) C714S probably damaging Het
Carmil1 G A 13: 24,209,863 (GRCm39) T1204I probably benign Het
Cdk12 T C 11: 98,101,915 (GRCm39) L591P unknown Het
Ces2f T A 8: 105,679,758 (GRCm39) L417* probably null Het
Chl1 T A 6: 103,685,390 (GRCm39) S810R probably benign Het
Ckap2 A G 8: 22,658,811 (GRCm39) V644A possibly damaging Het
Ctdsp2 T A 10: 126,829,746 (GRCm39) V126E probably damaging Het
Dok6 G T 18: 89,492,066 (GRCm39) H170Q probably damaging Het
Dynlrb1 T C 2: 155,084,728 (GRCm39) probably null Het
Eif5b T C 1: 38,083,795 (GRCm39) L757S probably damaging Het
Epas1 A C 17: 87,116,896 (GRCm39) T189P possibly damaging Het
Epha10 C A 4: 124,788,777 (GRCm39) N283K Het
Epha5 C A 5: 84,206,975 (GRCm39) G853C probably damaging Het
Gapvd1 A T 2: 34,594,493 (GRCm39) H831Q probably damaging Het
Gcnt3 T A 9: 69,941,996 (GRCm39) K191* probably null Het
Gm14226 T A 2: 154,866,909 (GRCm39) S289T probably benign Het
Gm4846 T A 1: 166,314,674 (GRCm39) D323V probably damaging Het
Golga3 G T 5: 110,356,421 (GRCm39) R1036L possibly damaging Het
Gopc T C 10: 52,229,580 (GRCm39) Q213R probably damaging Het
Hrh1 G A 6: 114,457,564 (GRCm39) V282M probably benign Het
Ighv5-4 T C 12: 113,561,078 (GRCm39) Y114C probably damaging Het
Igkv10-94 A T 6: 68,681,636 (GRCm39) I68N probably damaging Het
Kcnj3 A G 2: 55,336,875 (GRCm39) D247G possibly damaging Het
Lcn6 C A 2: 25,570,718 (GRCm39) S102Y probably damaging Het
Matk C A 10: 81,096,765 (GRCm39) H232N probably benign Het
Mcm9 C T 10: 53,492,068 (GRCm39) V366I probably benign Het
Nadk A G 4: 155,669,844 (GRCm39) I176V probably benign Het
Nlrp12 A G 7: 3,298,111 (GRCm39) L20P probably damaging Het
Oga T C 19: 45,746,511 (GRCm39) S763G probably benign Het
Or10ag56 A T 2: 87,139,583 (GRCm39) Q170L probably benign Het
Or1e21 G A 11: 73,344,309 (GRCm39) S243F probably damaging Het
Or4a72 A G 2: 89,405,329 (GRCm39) L247P probably damaging Het
Pcdhgb6 T A 18: 37,877,237 (GRCm39) D648E probably damaging Het
Pkd1l3 A T 8: 110,362,012 (GRCm39) N1018I probably damaging Het
Plch2 T C 4: 155,083,391 (GRCm39) K516E probably damaging Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pnma2 C T 14: 67,153,972 (GRCm39) A132V probably benign Het
Prkn T C 17: 11,456,472 (GRCm39) S99P probably benign Het
Prune2 A G 19: 17,099,602 (GRCm39) E1702G probably damaging Het
Qars1 T A 9: 108,392,422 (GRCm39) H756Q probably benign Het
Rab5a A G 17: 53,790,877 (GRCm39) probably benign Het
Rars2 A G 4: 34,657,199 (GRCm39) D515G probably damaging Het
Rpe65 T A 3: 159,320,429 (GRCm39) C329S probably damaging Het
Rps6ka2 G A 17: 7,523,316 (GRCm39) V231M possibly damaging Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
Scrt1 G T 15: 76,403,843 (GRCm39) S49* probably null Het
Sec23b C G 2: 144,428,308 (GRCm39) D640E possibly damaging Het
Setdb1 C T 3: 95,261,979 (GRCm39) V96M possibly damaging Het
Sik3 C A 9: 46,066,746 (GRCm39) A175E probably damaging Het
Smarcad1 A G 6: 65,060,908 (GRCm39) K463E probably benign Het
Sobp A C 10: 43,003,888 (GRCm39) C154G probably damaging Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Spink11 T A 18: 44,324,748 (GRCm39) R75* probably null Het
Sptb T C 12: 76,659,561 (GRCm39) H1113R probably benign Het
Sypl2 A T 3: 108,125,004 (GRCm39) V119E probably damaging Het
Tbc1d24 T C 17: 24,427,903 (GRCm39) S20G unknown Het
Tektl1 T C 10: 78,583,035 (GRCm39) K450E probably damaging Het
Top2a A T 11: 98,912,549 (GRCm39) V106D probably damaging Het
Tspyl4 G C 10: 34,174,261 (GRCm39) R251P probably damaging Het
Ttc21a T A 9: 119,787,835 (GRCm39) L801Q probably damaging Het
Vgll3 A G 16: 65,624,844 (GRCm39) E64G probably damaging Het
Vmn2r30 A G 7: 7,315,655 (GRCm39) I726T possibly damaging Het
Vmn2r81 T C 10: 79,106,467 (GRCm39) S482P possibly damaging Het
Wasf1 T G 10: 40,806,648 (GRCm39) M97R possibly damaging Het
Wdr33 T A 18: 31,962,947 (GRCm39) M98K probably benign Het
Wdr73 G A 7: 80,548,254 (GRCm39) T95I 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
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
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'- ACAGGATTACCTTCTCAGTCCTG -3'
(R):5'- GGGTATCCTCCATGTGCAAC -3'

Sequencing Primer
(F):5'- AGTCCTGCAGTTGCTCAGC -3'
(R):5'- AACCTGTACAGCTTGGTTGAC -3'
Posted On 2021-03-08