Incidental Mutation 'R1570:Sox6'
ID 177182
Institutional Source Beutler Lab
Gene Symbol Sox6
Ensembl Gene ENSMUSG00000051910
Gene Name SRY (sex determining region Y)-box 6
Synonyms
MMRRC Submission 039609-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1570 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 115070107-115638031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115376358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 125 (G125W)
Ref Sequence ENSEMBL: ENSMUSP00000145931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072804] [ENSMUST00000106612] [ENSMUST00000166207] [ENSMUST00000166877] [ENSMUST00000169129] [ENSMUST00000205405] [ENSMUST00000206369] [ENSMUST00000206123] [ENSMUST00000206034]
AlphaFold P40645
Predicted Effect probably damaging
Transcript: ENSMUST00000072804
AA Change: G125W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: G125W

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: ENSMUST00000106612
AA Change: G125W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: G125W

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 damaging
Transcript: ENSMUST00000166207
AA Change: G125W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: G125W

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: G125W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: G125W

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: G125W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: G125W

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: ENSMUST00000205405
AA Change: G125W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205980
Predicted Effect probably damaging
Transcript: ENSMUST00000206369
AA Change: G125W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206123
AA Change: G125W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206034
AA Change: G125W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206573
Meta Mutation Damage Score 0.4849 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.0%
Validation Efficiency 93% (77/83)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobec1 A G 6: 122,568,044 (GRCm39) probably null Het
Arhgap21 G T 2: 20,885,651 (GRCm39) Q348K probably benign Het
Arl5c A G 11: 97,883,213 (GRCm39) V129A probably benign Het
Armh1 A G 4: 117,087,189 (GRCm39) S159P probably damaging Het
Asb8 A G 15: 98,034,309 (GRCm39) L82P probably damaging Het
Bahcc1 G A 11: 120,163,009 (GRCm39) A436T possibly damaging Het
Btc T C 5: 91,550,576 (GRCm39) D2G unknown Het
C1s2 G A 6: 124,602,723 (GRCm39) T490M probably benign Het
Caap1 C T 4: 94,444,814 (GRCm39) G43D probably benign Het
Ccr5 T C 9: 123,925,000 (GRCm39) V201A probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdhr5 C A 7: 140,851,682 (GRCm39) G541C probably damaging Het
Cep170 A G 1: 176,583,367 (GRCm39) I1004T possibly damaging Het
Chd9 A T 8: 91,763,170 (GRCm39) M2332L probably benign Het
Clk1 T A 1: 58,453,584 (GRCm39) H334L probably benign Het
Cyp4b1 G A 4: 115,493,160 (GRCm39) S228F probably benign Het
Dnah9 T C 11: 66,003,156 (GRCm39) N883D probably benign Het
Dync2h1 A G 9: 7,176,926 (GRCm39) L11P probably benign Het
Ephx4 A G 5: 107,567,717 (GRCm39) E225G probably damaging Het
Erich6 C T 3: 58,538,080 (GRCm39) probably null Het
Espl1 A G 15: 102,206,802 (GRCm39) T89A probably damaging Het
Evi2 T A 11: 79,407,076 (GRCm39) K166N possibly damaging Het
Glrx5 A G 12: 104,999,127 (GRCm39) T57A possibly damaging Het
Gnptab T A 10: 88,255,316 (GRCm39) V222E probably damaging Het
Gpr155 T C 2: 73,200,382 (GRCm39) Y375C possibly damaging Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Ildr2 T C 1: 166,131,154 (GRCm39) F337L probably damaging Het
Ino80 C T 2: 119,277,509 (GRCm39) R322Q possibly damaging Het
Lcp2 A G 11: 34,039,601 (GRCm39) D467G probably benign Het
Lmbr1 A G 5: 29,459,556 (GRCm39) I229T probably damaging Het
Lnpep A T 17: 17,799,418 (GRCm39) M79K probably damaging Het
Lpin1 T C 12: 16,610,999 (GRCm39) Q564R possibly damaging Het
Lpin2 T A 17: 71,552,176 (GRCm39) L794* probably null Het
Lrrc37 A G 11: 103,500,764 (GRCm39) Y597H possibly damaging Het
Lrrc45 T C 11: 120,610,935 (GRCm39) probably null Het
Mtus1 A G 8: 41,529,278 (GRCm39) S751P probably damaging Het
Nbr1 T C 11: 101,455,656 (GRCm39) probably benign Het
Nup107 A G 10: 117,599,749 (GRCm39) F592S possibly damaging Het
Nup133 T A 8: 124,675,915 (GRCm39) M1L possibly damaging Het
Or2a20 T C 6: 43,194,285 (GRCm39) V146A probably benign Het
Or3a10 A C 11: 73,935,633 (GRCm39) F156V possibly damaging Het
Or4n4 T G 14: 50,518,981 (GRCm39) H243P probably damaging Het
Or4p8 A C 2: 88,727,290 (GRCm39) I217S probably damaging Het
Or52b4i C A 7: 102,191,177 (GRCm39) H11Q probably damaging Het
Or8i2 A T 2: 86,852,616 (GRCm39) S91T probably benign Het
Otud7b T C 3: 96,063,208 (GRCm39) C816R probably damaging Het
Pi4k2a T C 19: 42,089,083 (GRCm39) V148A probably benign Het
Pih1d2 T C 9: 50,532,479 (GRCm39) M195T probably benign Het
Pira13 T C 7: 3,826,060 (GRCm39) E311G probably benign Het
Plpp6 T C 19: 28,942,178 (GRCm39) F260L probably damaging Het
R3hcc1l A T 19: 42,570,393 (GRCm39) T663S probably damaging Het
Rnf25 T C 1: 74,634,426 (GRCm39) E199G probably damaging Het
Scin G A 12: 40,134,380 (GRCm39) probably benign Het
Serpinb1c A T 13: 33,080,973 (GRCm39) S37T probably benign Het
Snx19 A G 9: 30,339,639 (GRCm39) D259G probably damaging Het
Sorcs3 A G 19: 48,752,620 (GRCm39) K805R probably damaging Het
Spink5 A G 18: 44,100,174 (GRCm39) I64V probably benign Het
Spmip10 T A 18: 56,727,606 (GRCm39) D101E probably benign Het
St6galnac1 A G 11: 116,657,474 (GRCm39) probably benign Het
Sult1c2 T C 17: 54,143,991 (GRCm39) I105V probably benign Het
Tacr3 T G 3: 134,535,517 (GRCm39) S162A probably damaging Het
Ttc6 T C 12: 57,721,549 (GRCm39) S1013P probably damaging Het
Zbtb11 C A 16: 55,811,178 (GRCm39) N445K probably benign Het
Zfp423 A C 8: 88,509,186 (GRCm39) V261G probably benign Het
Zfp59 T C 7: 27,553,016 (GRCm39) V156A probably benign Het
Zscan2 C A 7: 80,513,141 (GRCm39) A42E 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
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
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'- TAGGCACTTCTGGCCCTTGGAATC -3'
(R):5'- TGTGAATGAGAAGCCAAGCTGTCC -3'

Sequencing Primer
(F):5'- GAATCCTGGTTATTTTGCTATTGCC -3'
(R):5'- AAGCCAAGCTGTCCAGTTTTG -3'
Posted On 2014-04-24