Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00957:Sox6'

27878

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 #

IGL00957

Quality Score

Status

Chromosome

Chromosomal Location

115070107-115638031 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115376327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 135 (K135R)

Ref Sequence

ENSEMBL: ENSMUSP00000145931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072804] [ENSMUST00000106612] [ENSMUST00000166207] [ENSMUST00000166877] [ENSMUST00000169129] [ENSMUST00000205405] [ENSMUST00000206369] [ENSMUST00000206034] [ENSMUST00000206123]

AlphaFold

P40645

Predicted Effect

probably damaging
Transcript: ENSMUST00000072804
AA Change: K135R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: K135R

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: K135R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: K135R

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: K135R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: K135R

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: K135R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: K135R

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: K135R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: K135R

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: K135R

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: K135R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206034
AA Change: K135R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206573

Predicted Effect

probably benign
Transcript: ENSMUST00000206123

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,573,470 (GRCm39)	I246N	probably benign	Het
Adora1	A	G	1: 134,130,951 (GRCm39)	L240P	probably damaging	Het
Ago4	C	T	4: 126,410,926 (GRCm39)	V188I	probably benign	Het
Ccdc138	T	A	10: 58,364,838 (GRCm39)		probably benign	Het
Cpeb4	A	G	11: 31,823,204 (GRCm39)	Y306C	probably damaging	Het
Ctsz	T	C	2: 174,269,771 (GRCm39)	E272G	probably damaging	Het
Dst	G	A	1: 34,267,488 (GRCm39)	V5155I	probably benign	Het
Fabp12	C	T	3: 10,315,273 (GRCm39)		probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hpcal1	G	A	12: 17,837,591 (GRCm39)	E142K	probably benign	Het
Hspa4	G	A	11: 53,171,514 (GRCm39)	T230I	probably benign	Het
Htt	T	C	5: 34,964,068 (GRCm39)	V387A	probably benign	Het
Loxl3	A	G	6: 83,025,747 (GRCm39)		probably benign	Het
Lrrc30	G	A	17: 67,939,499 (GRCm39)	S27L	probably benign	Het
Mtpn	A	G	6: 35,516,547 (GRCm39)		probably benign	Het
Mug2	A	G	6: 122,017,613 (GRCm39)	Y450C	probably damaging	Het
Ncl	A	G	1: 86,284,091 (GRCm39)		probably null	Het
Or8k23	A	T	2: 86,186,477 (GRCm39)	V83E	possibly damaging	Het
Psmd3	T	A	11: 98,576,394 (GRCm39)	S99T	probably benign	Het
Rb1cc1	G	A	1: 6,319,763 (GRCm39)	A1061T	probably damaging	Het
Rhbdd1	T	C	1: 82,318,362 (GRCm39)	Y82H	probably damaging	Het
Slc5a6	T	C	5: 31,196,279 (GRCm39)		probably benign	Het
Tasor2	T	A	13: 3,627,101 (GRCm39)	I950F	possibly damaging	Het
Tbx21	A	G	11: 96,989,920 (GRCm39)	V424A	probably benign	Het
Trpa1	A	T	1: 14,951,892 (GRCm39)	Y936N	probably damaging	Het
Ttn	G	T	2: 76,569,280 (GRCm39)	D25458E	probably damaging	Het
Zfp629	C	T	7: 127,211,896 (GRCm39)	V6M	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
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

2013-04-17