Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Sox8'

539309

Institutional Source

Beutler Lab

Gene Symbol

Sox8

Ensembl Gene

ENSMUSG00000024176

Gene Name

SRY (sex determining region Y)-box 8

Synonyms

MMRRC Submission

045036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25784866-25789660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25786888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 272 (V272I)

Ref Sequence

ENSEMBL: ENSMUSP00000025003 (fasta)

Gene Model

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

AlphaFold

Q04886

Predicted Effect

probably damaging
Transcript: ENSMUST00000025003
AA Change: V272I

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

SMART Domains

Protein: ENSMUSP00000025003
Gene: ENSMUSG00000024176
AA Change: V272I

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

Meta Mutation Damage Score

0.1121

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,422,390 (GRCm39)	L334I	probably damaging	Het
Akap9	T	A	5: 4,010,551 (GRCm39)	M436K	probably benign	Het
Ankmy1	A	C	1: 92,816,173 (GRCm39)	F314V	probably null	Het
Arid5b	G	A	10: 68,022,042 (GRCm39)	Q183*	probably null	Het
Atp8b4	A	T	2: 126,200,834 (GRCm39)	L778*	probably null	Het
BC024139	G	T	15: 76,004,221 (GRCm39)	N739K	probably benign	Het
Carns1	T	G	19: 4,219,912 (GRCm39)	H441P	probably benign	Het
Cby2	T	A	14: 75,830,098 (GRCm39)	T32S	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,523 (GRCm39)	W394R	probably damaging	Het
Cfap70	T	A	14: 20,459,153 (GRCm39)	I693F	probably benign	Het
Cldn3	A	G	5: 135,015,426 (GRCm39)	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,796,686 (GRCm39)	P1608L	probably benign	Het
Cr2	T	A	1: 194,853,454 (GRCm39)	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,424,512 (GRCm39)	I269F	probably damaging	Het
Dapk1	A	T	13: 60,844,256 (GRCm39)	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,759,771 (GRCm39)	L292*	probably null	Het
Dhx38	T	C	8: 110,286,231 (GRCm39)	E353G	probably benign	Het
Dnm3	T	C	1: 162,145,966 (GRCm39)		probably null	Het
Dzip3	T	C	16: 48,762,488 (GRCm39)	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,321,500 (GRCm39)	V351D	possibly damaging	Het
Epg5	T	A	18: 78,022,380 (GRCm39)	V1041E	probably benign	Het
Exoc4	A	G	6: 33,898,388 (GRCm39)	K869R	possibly damaging	Het
Fat3	C	A	9: 16,289,044 (GRCm39)	V160F	probably benign	Het
Gak	A	T	5: 108,750,816 (GRCm39)	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,360,104 (GRCm39)		probably null	Het
Gm21738	A	G	14: 19,415,933 (GRCm38)	M202T	probably benign	Het
Havcr2	C	T	11: 46,366,738 (GRCm39)	S177L	probably benign	Het
Hkdc1	G	C	10: 62,237,711 (GRCm39)	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,510,444 (GRCm39)	G200S	probably damaging	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Lair1	A	T	7: 4,058,952 (GRCm39)	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,562,293 (GRCm39)	N26D	probably damaging	Het
Lyst	T	A	13: 13,900,629 (GRCm39)	D3168E	probably benign	Het
Map6	G	A	7: 98,917,454 (GRCm39)	A76T	probably damaging	Het
Mcoln3	A	T	3: 145,843,011 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,587,312 (GRCm39)	F2718L	probably benign	Het
Nek11	C	G	9: 105,270,256 (GRCm39)		probably benign	Het
Or10n7-ps1	T	C	9: 39,597,832 (GRCm39)	E136G	unknown	Het
Or2z8	C	A	8: 72,811,574 (GRCm39)	L17I	probably benign	Het
Or4d6	A	G	19: 12,086,490 (GRCm39)	V140A	probably benign	Het
Pcdh15	A	T	10: 74,479,641 (GRCm39)	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,858,998 (GRCm39)	T18M	probably benign	Het
Per3	T	C	4: 151,128,106 (GRCm39)	M61V	possibly damaging	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,156,947 (GRCm39)	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,789,035 (GRCm39)	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prkce	G	C	17: 86,800,835 (GRCm39)	G417A	probably damaging	Het
Ptar1	A	G	19: 23,680,501 (GRCm39)	N106D	probably damaging	Het
Rbm15	C	A	3: 107,239,627 (GRCm39)	R257L	probably benign	Het
Rptor	T	G	11: 119,647,171 (GRCm39)	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257 (GRCm39)	W350R	probably damaging	Het
Ryr2	T	G	13: 11,760,487 (GRCm39)	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,820,110 (GRCm39)	V379L	possibly damaging	Het
Stard9	C	T	2: 120,533,111 (GRCm39)	H3123Y	probably benign	Het
Taar9	C	T	10: 23,984,910 (GRCm39)	E175K	possibly damaging	Het
Tinag	T	A	9: 76,908,897 (GRCm39)	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,965,687 (GRCm39)	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,118,342 (GRCm39)	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,657 (GRCm39)	Q366K	probably benign	Het
Txndc2	T	C	17: 65,945,286 (GRCm39)	D297G	probably benign	Het
Ulk4	A	G	9: 121,087,886 (GRCm39)	F269L	probably benign	Het
Vps39	A	T	2: 120,151,512 (GRCm39)	Y738*	probably null	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
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
R8262:Sox8	UTSW	17	25,786,617 (GRCm39)	missense	possibly damaging	0.89
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'- AGCTGCTCCGTCTTGATCTG -3'
(R):5'- AATATACTTTCTTCCTCAGGCCAG -3'

Sequencing Primer
(F):5'- CGTCTTGATCTGTGGCCGAAG -3'
(R):5'- TTCCTCAGGCCAGACCCATG -3'

Posted On

2018-11-06