Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:Sox6'

379817

Institutional Source

Beutler Lab

Gene Symbol

Sox6

Ensembl Gene

ENSMUSG00000051910

Gene Name

SRY (sex determining region Y)-box 6

Synonyms

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4914 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115070107-115638031 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115076199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 814 (D814G)

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 damaging
Transcript: ENSMUST00000072804
AA Change: D813G

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

SMART Domains

Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: D813G

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: D771G

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

SMART Domains

Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: D771G

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: D813G

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

SMART Domains

Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: D813G

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: D773G

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

SMART Domains

Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: D773G

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: D773G

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

SMART Domains

Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: D773G

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: D814G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206034
AA Change: D772G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206369
AA Change: D814G

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

Meta Mutation Damage Score

0.2611

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,870,423 (GRCm39)	V281M	probably damaging	Het
Ap1b1	C	T	11: 4,974,400 (GRCm39)	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arhgef1	T	A	7: 24,623,264 (GRCm39)	L436Q	probably damaging	Het
Atxn2	T	A	5: 121,887,159 (GRCm39)	D276E	probably damaging	Het
AU040320	A	T	4: 126,729,469 (GRCm39)	K544*	probably null	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	G	13: 100,192,844 (GRCm39)	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cabs1	T	C	5: 88,128,296 (GRCm39)	Y316H	probably damaging	Het
Carmil2	A	G	8: 106,420,175 (GRCm39)	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,036,083 (GRCm39)	P86Q	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cemip2	G	A	19: 21,786,653 (GRCm39)	V472I	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnai3	A	G	3: 145,772,582 (GRCm39)	I488T	probably damaging	Het
Dpp4	A	T	2: 62,178,236 (GRCm39)	M632K	probably benign	Het
E030030I06Rik	G	A	10: 21,990,197 (GRCm39)	T192M	possibly damaging	Het
Ece2	C	T	16: 20,462,820 (GRCm39)	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Emc1	C	T	4: 139,102,476 (GRCm39)	R924*	probably null	Het
Etaa1	A	T	11: 17,896,532 (GRCm39)	S528R	probably benign	Het
Exoc2	A	T	13: 31,060,796 (GRCm39)	N569K	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,267,245 (GRCm39)	V329I	probably benign	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fermt1	A	G	2: 132,748,760 (GRCm39)	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,581,513 (GRCm39)	T189A	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
G6pd2	T	A	5: 61,967,672 (GRCm39)	Y482*	probably null	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gper1	A	G	5: 139,412,623 (GRCm39)	I323V	probably benign	Het
Grm5	C	A	7: 87,779,337 (GRCm39)	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,369,503 (GRCm39)	T85A	probably benign	Het
Hgsnat	A	G	8: 26,454,866 (GRCm39)	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,787,884 (GRCm39)	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,054,750 (GRCm39)	N344D	probably damaging	Het
Kif1c	A	G	11: 70,599,681 (GRCm39)	E471G	probably damaging	Het
Lalba	T	A	15: 98,380,061 (GRCm39)	N63I	probably benign	Het
Mcoln1	T	A	8: 3,557,483 (GRCm39)	L163*	probably null	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mpzl2	T	A	9: 44,955,146 (GRCm39)	D114E	probably benign	Het
Myef2	T	A	2: 124,951,659 (GRCm39)	K259*	probably null	Het
Myh8	C	A	11: 67,183,510 (GRCm39)	D740E	probably damaging	Het
Myo1b	A	T	1: 51,863,367 (GRCm39)		probably null	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Or1b1	A	T	2: 36,995,170 (GRCm39)	I164N	possibly damaging	Het
Or2h2	T	C	17: 37,396,883 (GRCm39)	Y58C	probably damaging	Het
Or2w1b	A	T	13: 21,300,567 (GRCm39)	Q235L	probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Orc1	T	C	4: 108,461,755 (GRCm39)	F584S	probably damaging	Het
Osgin1	C	A	8: 120,169,283 (GRCm39)	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,622,644 (GRCm39)	V1522L	probably benign	Het
Phactr1	A	G	13: 43,287,439 (GRCm39)	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,446,265 (GRCm39)	V14A	probably damaging	Het
Prkcd	A	T	14: 30,327,395 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,163,425 (GRCm39)	S1082G	probably benign	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,487,248 (GRCm39)	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,877,613 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slain2	T	A	5: 73,115,609 (GRCm39)	M448K	probably benign	Het
Slc25a54	T	C	3: 109,018,395 (GRCm39)	F292L	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,615,096 (GRCm39)	V334I	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Smg8	T	C	11: 86,971,536 (GRCm39)	E745G	probably damaging	Het
Smyd1	T	G	6: 71,196,321 (GRCm39)	I322L	probably benign	Het
Snx13	G	A	12: 35,182,032 (GRCm39)	V694I	possibly damaging	Het
Spag6	A	T	2: 18,750,360 (GRCm39)	I469F	probably benign	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Srprb	C	A	9: 103,079,147 (GRCm39)	V747L	possibly damaging	Het
Stam	A	G	2: 14,107,227 (GRCm39)	E16G	probably damaging	Het
Taar5	A	T	10: 23,847,468 (GRCm39)	I289F	possibly damaging	Het
Tgif1	C	T	17: 71,152,242 (GRCm39)	R70H	probably damaging	Het
Top2a	A	T	11: 98,893,786 (GRCm39)	L1036H	probably damaging	Het
Tph1	T	A	7: 46,303,283 (GRCm39)	I232F	probably damaging	Het
Ttn	T	C	2: 76,577,175 (GRCm39)	T24573A	probably damaging	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ube2n	T	A	10: 95,377,607 (GRCm39)	W129R	possibly damaging	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Vmn2r81	A	T	10: 79,106,357 (GRCm39)	K445M	probably null	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Zfp1007	A	G	5: 109,826,396 (GRCm39)	S59P	probably damaging	Het
Zfp157	T	C	5: 138,454,557 (GRCm39)	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,275,567 (GRCm39)	C228*	probably null	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	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
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'- TGTCTCACACGTTACGAAGC -3'
(R):5'- TGCTATTACTATGGCAACGACC -3'

Sequencing Primer
(F):5'- CGAAGCAATTAAGACCATTCTGCTG -3'
(R):5'- TATTACTATGGCAACGACCACACC -3'

Posted On

2016-04-15