Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02410:Sox6'

292263

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 #

IGL02410

Quality Score

Status

Chromosome

Chromosomal Location

115070107-115638031 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115085979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 621 (S621P)

Ref Sequence

ENSEMBL: ENSMUSP00000145919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072804] [ENSMUST00000106612] [ENSMUST00000166207] [ENSMUST00000166877] [ENSMUST00000169129] [ENSMUST00000205405] [ENSMUST00000206034] [ENSMUST00000206369]

AlphaFold

P40645

Predicted Effect

probably damaging
Transcript: ENSMUST00000072804
AA Change: S662P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: S662P

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 damaging
Transcript: ENSMUST00000106612
AA Change: S620P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: S620P

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 damaging
Transcript: ENSMUST00000166207
AA Change: S662P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: S662P

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 damaging
Transcript: ENSMUST00000166877
AA Change: S622P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: S622P

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 damaging
Transcript: ENSMUST00000169129
AA Change: S622P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: S622P

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 damaging
Transcript: ENSMUST00000205405
AA Change: S663P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206034
AA Change: S621P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206369
AA Change: S663P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	G	A	1: 165,337,977 (GRCm39)	C197Y	probably damaging	Het
Ano2	A	G	6: 125,792,496 (GRCm39)		probably null	Het
Aqr	A	G	2: 113,967,398 (GRCm39)	V539A	possibly damaging	Het
Bnip3	C	A	7: 138,500,528 (GRCm39)	G21C	probably damaging	Het
Cul1	T	A	6: 47,461,948 (GRCm39)	M37K	probably damaging	Het
Dazl	T	C	17: 50,600,426 (GRCm39)		probably benign	Het
Dsg2	A	G	18: 20,735,189 (GRCm39)	T1056A	probably benign	Het
Ewsr1	A	G	11: 5,043,863 (GRCm39)		probably benign	Het
Fam167b	G	A	4: 129,472,011 (GRCm39)	A53V	probably benign	Het
Fat3	T	C	9: 15,909,141 (GRCm39)	Y2287C	probably damaging	Het
H2-M10.3	A	T	17: 36,677,428 (GRCm39)	H283Q	probably damaging	Het
Hectd2	C	T	19: 36,572,613 (GRCm39)	R39*	probably null	Het
Hnrnph3	A	G	10: 62,851,503 (GRCm39)		probably benign	Het
Hps4	T	C	5: 112,518,093 (GRCm39)	V362A	probably benign	Het
Igkv9-120	A	C	6: 68,027,027 (GRCm39)		probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lamc3	A	G	2: 31,795,977 (GRCm39)	T417A	probably damaging	Het
Loxhd1	T	C	18: 77,490,648 (GRCm39)	V1307A	probably benign	Het
Mpdz	T	C	4: 81,215,730 (GRCm39)	E1511G	probably benign	Het
Nprl3	A	T	11: 32,217,539 (GRCm39)	M1K	probably null	Het
Or9i2	A	G	19: 13,816,495 (GRCm39)	I14T	probably benign	Het
Ppp1r15a	A	G	7: 45,173,479 (GRCm39)	V443A	probably damaging	Het
Psmd1	T	G	1: 86,005,159 (GRCm39)	L198V	probably damaging	Het
Rapgef4	A	T	2: 72,056,938 (GRCm39)	I566F	possibly damaging	Het
Rbbp8	T	A	18: 11,865,269 (GRCm39)	D719E	probably damaging	Het
Siah2	T	C	3: 58,583,468 (GRCm39)	R273G	probably damaging	Het
Siglecg	C	T	7: 43,058,253 (GRCm39)	P47S	probably damaging	Het
Spata31e5	A	G	1: 28,817,712 (GRCm39)	S107P	probably benign	Het
Ttn	C	A	2: 76,555,278 (GRCm39)	A30576S	probably benign	Het
Ttyh1	A	G	7: 4,136,898 (GRCm39)		probably benign	Het
Ush2a	C	T	1: 188,648,194 (GRCm39)	R4600C	probably damaging	Het
Usp36	C	T	11: 118,167,011 (GRCm39)	V289M	probably damaging	Het

Other mutations in Sox6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-04-16