Mutagenetix > Incidental Mutation

Incidental Mutation 'R8262:Sox8'

639885

Institutional Source

Beutler Lab

Gene Symbol

Sox8

Ensembl Gene

ENSMUSG00000024176

Gene Name

SRY (sex determining region Y)-box 8

Synonyms

MMRRC Submission

067687-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25784866-25789660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25786617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 362 (D362G)

Ref Sequence

ENSEMBL: ENSMUSP00000025003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025003] [ENSMUST00000173447]

AlphaFold

Q04886

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025003
AA Change: D362G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025003
Gene: ENSMUSG00000024176
AA Change: D362G

Domain	Start	End	E-Value	Type
Pfam:Sox_N	18	86	3.8e-27	PFAM
HMG	98	168	3.86e-28	SMART
low complexity region	208	228	N/A	INTRINSIC
low complexity region	303	321	N/A	INTRINSIC
low complexity region	375	397	N/A	INTRINSIC
low complexity region	407	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173447

SMART Domains

Protein: ENSMUSP00000133403
Gene: ENSMUSG00000024176

Domain	Start	End	E-Value	Type
Pfam:Sox_N	3	87	3.3e-25	PFAM
HMG	98	168	3.86e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174560

SMART Domains

Protein: ENSMUSP00000133742
Gene: ENSMUSG00000024176

Domain	Start	End	E-Value	Type
HMG	1	66	1.19e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a 30% decrease in adult body weight due to diminished fat stores, and a reduction of several tarsals which subsequently fail to fuse. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,107,709 (GRCm39)	D358G	possibly damaging	Het
Adam26a	A	T	8: 44,022,178 (GRCm39)	C437*	probably null	Het
Arhgap10	A	T	8: 78,037,468 (GRCm39)	C587S	probably benign	Het
Bank1	G	A	3: 135,948,721 (GRCm39)	T285I	probably benign	Het
Bhlha15	C	T	5: 144,128,257 (GRCm39)	S123L	probably damaging	Het
Cacul1	T	C	19: 60,517,475 (GRCm39)	*305W	probably null	Het
Cep112	A	C	11: 108,393,977 (GRCm39)	K365T	probably damaging	Het
Chrm1	T	A	19: 8,656,453 (GRCm39)	L386Q	probably damaging	Het
Cnbp	C	A	6: 87,822,194 (GRCm39)	R110L	probably damaging	Het
Cntnap5a	A	T	1: 116,116,140 (GRCm39)	I541F	possibly damaging	Het
Dscaml1	T	G	9: 45,658,438 (GRCm39)		probably benign	Het
Enpp3	C	T	10: 24,653,824 (GRCm39)	S711N	probably damaging	Het
Eps8	G	T	6: 137,459,252 (GRCm39)	N750K	probably benign	Het
Fan1	G	T	7: 64,023,054 (GRCm39)	N66K	probably benign	Het
Fbf1	G	A	11: 116,044,845 (GRCm39)	T323I	probably benign	Het
Flg2	A	T	3: 93,127,517 (GRCm39)	N2143I	unknown	Het
Fn3k	A	C	11: 121,339,744 (GRCm39)	T169P	probably benign	Het
Fubp1	T	G	3: 151,926,356 (GRCm39)	I320R	probably damaging	Het
Gfpt2	A	T	11: 49,714,607 (GRCm39)	E335D	probably benign	Het
Gm17472	T	C	6: 42,957,968 (GRCm39)	I79T	probably benign	Het
Gpr151	C	A	18: 42,711,437 (GRCm39)	E414*	probably null	Het
Gpr179	G	A	11: 97,226,983 (GRCm39)	S1724L	probably benign	Het
Gtf2h3	C	A	5: 124,728,967 (GRCm39)	Y175*	probably null	Het
Hal	T	A	10: 93,328,369 (GRCm39)	I215N	probably damaging	Het
Htt	A	G	5: 35,053,304 (GRCm39)	T2546A	probably benign	Het
Ighv1-11	T	C	12: 114,576,077 (GRCm39)	Y46C	probably damaging	Het
Lcn4	T	C	2: 26,558,375 (GRCm39)	D170G	probably benign	Het
Lrch1	T	A	14: 75,055,935 (GRCm39)	D306V	probably damaging	Het
Mtcl1	A	C	17: 66,650,653 (GRCm39)	V1604G	probably damaging	Het
Or10g3b	T	C	14: 52,586,625 (GRCm39)	N293D	probably damaging	Het
Or3a10	A	G	11: 73,935,926 (GRCm39)	L58P	probably damaging	Het
Or4c108	T	G	2: 88,803,552 (GRCm39)	S228R	probably damaging	Het
Or4k49	T	G	2: 111,494,587 (GRCm39)	N5K	possibly damaging	Het
Or9i1b	G	A	19: 13,897,226 (GRCm39)	V281I	probably benign	Het
Ormdl2	A	G	10: 128,654,837 (GRCm39)	L125P	possibly damaging	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Pde3a	T	A	6: 141,433,527 (GRCm39)	F803Y	possibly damaging	Het
Pnpla7	C	T	2: 24,873,635 (GRCm39)	R214W	probably damaging	Het
Prtg	T	C	9: 72,813,520 (GRCm39)	V960A	probably benign	Het
Ptgdr	T	C	14: 45,090,858 (GRCm39)	E300G	probably benign	Het
Ptpru	G	T	4: 131,522,274 (GRCm39)	Y710*	probably null	Het
Pxdn	T	A	12: 30,049,195 (GRCm39)	Y620*	probably null	Het
Pycard	T	C	7: 127,592,797 (GRCm39)	D10G	possibly damaging	Het
Sh3d21	G	T	4: 126,055,775 (GRCm39)	Q160K	probably benign	Het
Slc26a7	G	A	4: 14,621,269 (GRCm39)	P39L	probably benign	Het
Snrnp200	T	A	2: 127,068,928 (GRCm39)	Y936N	probably damaging	Het
Tcp11	T	G	17: 28,286,001 (GRCm39)	N538T	probably damaging	Het
Tent2	T	C	13: 93,310,997 (GRCm39)		probably benign	Het
Tmem132e	A	C	11: 82,325,666 (GRCm39)	E222A	probably benign	Het
Trpc7	T	C	13: 56,937,602 (GRCm39)	E618G	probably benign	Het
Tsc2	G	T	17: 24,833,340 (GRCm39)	Q695K	probably benign	Het
Txlnb	C	A	10: 17,718,752 (GRCm39)	L528M	possibly damaging	Het
Vmn1r176	A	G	7: 23,534,878 (GRCm39)	Y92H	probably benign	Het
Vmn2r85	T	A	10: 130,254,738 (GRCm39)	I649F	probably damaging	Het
Vwa8	T	C	14: 79,171,272 (GRCm39)		probably null	Het
Wrn	A	T	8: 33,814,274 (GRCm39)	I390N	probably benign	Het
Zfp493	T	A	13: 67,934,976 (GRCm39)	C310S	probably damaging	Het

Other mutations in Sox8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Sox8	APN	17	25,786,502 (GRCm39)	splice site	probably null
IGL01918:Sox8	APN	17	25,789,111 (GRCm39)	missense	probably damaging	1.00
IGL02672:Sox8	APN	17	25,787,963 (GRCm39)	missense	probably damaging	1.00
IGL03371:Sox8	APN	17	25,786,414 (GRCm39)	missense	probably damaging	1.00
R1398:Sox8	UTSW	17	25,786,857 (GRCm39)	missense	probably benign	0.01
R1673:Sox8	UTSW	17	25,786,456 (GRCm39)	missense	possibly damaging	0.77
R1742:Sox8	UTSW	17	25,786,915 (GRCm39)	missense	probably damaging	0.99
R4019:Sox8	UTSW	17	25,789,271 (GRCm39)	missense	probably damaging	1.00
R4353:Sox8	UTSW	17	25,786,309 (GRCm39)	makesense	probably null
R4466:Sox8	UTSW	17	25,787,879 (GRCm39)	missense	probably benign	0.37
R4893:Sox8	UTSW	17	25,787,963 (GRCm39)	missense	probably damaging	1.00
R4929:Sox8	UTSW	17	25,789,330 (GRCm39)	missense	probably benign	0.21
R5915:Sox8	UTSW	17	25,786,443 (GRCm39)	missense	probably damaging	1.00
R6114:Sox8	UTSW	17	25,786,494 (GRCm39)	missense	probably damaging	1.00
R6915:Sox8	UTSW	17	25,786,888 (GRCm39)	missense	probably damaging	1.00
R7030:Sox8	UTSW	17	25,789,082 (GRCm39)	critical splice donor site	probably null
R7232:Sox8	UTSW	17	25,786,514 (GRCm39)	missense	probably benign	0.01
R7549:Sox8	UTSW	17	25,786,935 (GRCm39)	missense	probably damaging	0.99
R8862:Sox8	UTSW	17	25,787,045 (GRCm39)	missense	possibly damaging	0.81
R9015:Sox8	UTSW	17	25,789,135 (GRCm39)	missense	probably damaging	1.00
R9109:Sox8	UTSW	17	25,787,813 (GRCm39)	missense	possibly damaging	0.94
R9387:Sox8	UTSW	17	25,786,338 (GRCm39)	missense	probably damaging	1.00
R9406:Sox8	UTSW	17	25,786,634 (GRCm39)	missense	probably damaging	1.00
R9646:Sox8	UTSW	17	25,786,871 (GRCm39)	missense	probably benign	0.00
Z1177:Sox8	UTSW	17	25,787,958 (GRCm39)	missense	probably damaging	1.00
Z1177:Sox8	UTSW	17	25,786,717 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATAGAGAGCCCATTGAGCAGTG -3'
(R):5'- CAGTACTTGCCCCTCAATGG -3'

Sequencing Primer
(F):5'- CATAGGGCCGACGGGATG -3'
(R):5'- GCCCCTCAATGGCCACTC -3'

Posted On

2020-07-28