Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00518:Sox6'

6267

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sox6

Ensembl Gene

ENSMUSG00000051910

Gene Name

SRY (sex determining region Y)-box 6

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00518

Quality Score

Status

Chromosome

Chromosomal Location

115070107-115638031 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115076441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 733 (M733I)

Ref Sequence

ENSEMBL: ENSMUSP00000145931 (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: M732I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: M732I

Domain	Start	End	E-Value	Type
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: M690I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: M690I

Domain	Start	End	E-Value	Type
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: M732I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: M732I

Domain	Start	End	E-Value	Type
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: M692I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: M692I

Domain	Start	End	E-Value	Type
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: M692I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: M692I

Domain	Start	End	E-Value	Type
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: M733I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206034
AA Change: M691I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206369
AA Change: M733I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	C	1: 63,610,113 (GRCm39)	V705A	probably damaging	Het
Cacna2d4	C	T	6: 119,320,536 (GRCm39)	L905F	probably damaging	Het
Copb2	A	T	9: 98,464,947 (GRCm39)	K627N	possibly damaging	Het
Dennd5b	A	G	6: 148,928,828 (GRCm39)	C782R	probably damaging	Het
Diaph1	A	G	18: 38,026,401 (GRCm39)		probably null	Het
Esyt1	C	T	10: 128,357,743 (GRCm39)	D243N	probably benign	Het
Hectd1	A	G	12: 51,823,272 (GRCm39)		probably benign	Het
Klk1b4	T	C	7: 43,860,456 (GRCm39)		probably benign	Het
Lce1i	T	A	3: 92,684,911 (GRCm39)	R88S	unknown	Het
Lrrc37a	G	T	11: 103,391,177 (GRCm39)	P1416Q	probably benign	Het
Mcm6	C	A	1: 128,272,120 (GRCm39)	A426S	probably damaging	Het
Mycbp2	C	T	14: 103,393,244 (GRCm39)	V3106I	probably damaging	Het
Nkiras1	T	G	14: 18,278,435 (GRCm38)	F50V	probably benign	Het
Pik3r6	A	T	11: 68,425,077 (GRCm39)	I457F	probably damaging	Het
Rbck1	T	C	2: 152,160,315 (GRCm39)	K455E	probably damaging	Het
Ryr2	T	A	13: 11,848,978 (GRCm39)		probably benign	Het
Serpinb9b	T	A	13: 33,223,553 (GRCm39)	F248L	probably benign	Het
Supt20	T	C	3: 54,622,590 (GRCm39)	S446P	probably damaging	Het
Tmem209	A	G	6: 30,487,416 (GRCm39)	M530T	probably damaging	Het
Top2a	A	T	11: 98,909,647 (GRCm39)	Y150*	probably null	Het
Trmt9b	C	T	8: 36,979,453 (GRCm39)	T352I	possibly damaging	Het
Ttn	T	A	2: 76,733,726 (GRCm39)		probably benign	Het
Ubr2	A	G	17: 47,303,922 (GRCm39)	Y138H	probably damaging	Het
Utrn	A	G	10: 12,542,587 (GRCm39)		probably benign	Het
Zfp354a	T	A	11: 50,961,381 (GRCm39)	S531T	probably damaging	Het
Zscan4d	T	C	7: 10,896,281 (GRCm39)	E363G	probably benign	Het

Other mutations in Sox6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20