Mutagenetix > Incidental Mutation

Incidental Mutation 'R6549:Sox6'

521441

Institutional Source

Beutler Lab

Gene Symbol

Sox6

Ensembl Gene

ENSMUSG00000051910

Gene Name

SRY (sex determining region Y)-box 6

Synonyms

MMRRC Submission

044674-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6549 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115070107-115638031 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115085927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 680 (I680T)

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

possibly damaging
Transcript: ENSMUST00000072804
AA Change: I679T

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: I679T

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

possibly damaging
Transcript: ENSMUST00000106612
AA Change: I637T

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: I637T

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

possibly damaging
Transcript: ENSMUST00000166207
AA Change: I679T

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: I679T

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

possibly damaging
Transcript: ENSMUST00000166877
AA Change: I639T

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: I639T

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

possibly damaging
Transcript: ENSMUST00000169129
AA Change: I639T

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: I639T

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

possibly damaging
Transcript: ENSMUST00000205405
AA Change: I680T

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206034
AA Change: I638T

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206369
AA Change: I680T

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	T	C	9: 53,404,477 (GRCm39)	D1288G	probably benign	Het
Atxn7	T	C	14: 14,013,087 (GRCm38)	S2P	probably damaging	Het
C1rl	T	A	6: 124,485,487 (GRCm39)	I286N	probably benign	Het
Ccdc54	T	C	16: 50,410,388 (GRCm39)	R293G	possibly damaging	Het
Cndp1	A	T	18: 84,654,309 (GRCm39)	I85K	probably benign	Het
Col25a1	A	G	3: 129,976,444 (GRCm39)	T110A	probably benign	Het
Defb8	G	T	8: 19,497,560 (GRCm39)	P17Q	probably damaging	Het
Dnah1	A	T	14: 30,991,340 (GRCm39)	L3146Q	probably damaging	Het
Espn	A	T	4: 152,215,525 (GRCm39)	M1K	probably null	Het
Gm9922	C	A	14: 101,966,893 (GRCm39)		probably benign	Het
Hycc2	T	C	1: 58,578,759 (GRCm39)	I264V	probably benign	Het
Ldb3	A	G	14: 34,263,854 (GRCm39)	M545T	probably damaging	Het
Or8k30	A	T	2: 86,339,726 (GRCm39)	I308L	probably benign	Het
Piezo1	G	A	8: 123,227,002 (GRCm39)	H420Y		Het
Primpol	A	T	8: 47,058,185 (GRCm39)	L115I	probably damaging	Het
Pus10	G	A	11: 23,679,075 (GRCm39)		probably null	Het
Rictor	C	G	15: 6,825,656 (GRCm39)	A1689G	probably damaging	Het
Scn2a	A	G	2: 65,595,018 (GRCm39)	N1956D	probably benign	Het
Scn4a	T	C	11: 106,234,791 (GRCm39)	D384G	probably damaging	Het
Sell	A	G	1: 163,893,198 (GRCm39)	D138G	probably damaging	Het
Slc4a7	T	A	14: 14,748,564 (GRCm38)	F327L	probably damaging	Het
Synj1	A	G	16: 90,735,565 (GRCm39)	S1463P	probably benign	Het
Vmn1r31	A	T	6: 58,449,648 (GRCm39)	N72K	possibly damaging	Het
Vmn2r77	A	G	7: 86,450,065 (GRCm39)	I104V	probably benign	Het
Zfp988	G	A	4: 147,416,310 (GRCm39)	C248Y	probably benign	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
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
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'- TCCAATGCACATGCTAGGAG -3'
(R):5'- GGATTCCTGAGCAAAATCTGTAAGG -3'

Sequencing Primer
(F):5'- CCTTTCCTGGGAAGGGGAG -3'
(R):5'- CCTGAGCAAAATCTGTAAGGTAATG -3'

Posted On

2018-06-06