Mutagenetix > Incidental Mutation

Incidental Mutation 'R7549:Sox8'

584426

Institutional Source

Beutler Lab

Gene Symbol

Sox8

Ensembl Gene

ENSMUSG00000024176

Gene Name

SRY (sex determining region Y)-box 8

Synonyms

MMRRC Submission

045620-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7549 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25784866-25789660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25786935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 256 (Q256L)

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: Q256L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025003
Gene: ENSMUSG00000024176
AA Change: Q256L

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: 99.6%
20x: 98.6%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Adam1b	A	G	5: 121,639,981 (GRCm39)	C355R	probably damaging	Het
Adamtsl3	T	C	7: 82,223,117 (GRCm39)	L966P	probably damaging	Het
Aldh18a1	A	G	19: 40,553,291 (GRCm39)	C486R	probably damaging	Het
Aqp11	C	A	7: 97,387,284 (GRCm39)		probably benign	Het
Arhgap28	A	G	17: 68,178,961 (GRCm39)	L350P	probably damaging	Het
Art3	A	G	5: 92,551,514 (GRCm39)	Q291R	probably benign	Het
Asb15	A	G	6: 24,559,029 (GRCm39)		probably null	Het
Bmp8b	T	C	4: 122,999,448 (GRCm39)	I102T	possibly damaging	Het
Bsn	T	C	9: 107,992,014 (GRCm39)	D1246G	probably benign	Het
Cass4	G	A	2: 172,268,718 (GRCm39)	G267S	probably benign	Het
Cass4	G	T	2: 172,268,719 (GRCm39)	G267V	probably benign	Het
Ccr7	T	C	11: 99,036,727 (GRCm39)	Y65C	probably damaging	Het
Clstn2	A	C	9: 97,464,597 (GRCm39)	I186S	probably benign	Het
Cyp2r1	A	G	7: 114,153,879 (GRCm39)	I105T	possibly damaging	Het
Efr3a	T	A	15: 65,687,262 (GRCm39)		probably null	Het
Erg	A	C	16: 95,170,179 (GRCm39)		probably null	Het
Eya4	A	T	10: 22,987,557 (GRCm39)	V524E	probably damaging	Het
Farp1	C	A	14: 121,472,589 (GRCm39)	N241K	possibly damaging	Het
Fat1	A	T	8: 45,442,031 (GRCm39)	Y1111F	probably benign	Het
Fbn1	T	C	2: 125,185,947 (GRCm39)	E1607G	probably damaging	Het
Fbn2	A	T	18: 58,153,536 (GRCm39)	C2575*	probably null	Het
Fsip2	A	T	2: 82,824,337 (GRCm39)	D6690V	probably damaging	Het
Fzd4	T	C	7: 89,056,346 (GRCm39)	V131A	possibly damaging	Het
Gfral	T	A	9: 76,106,257 (GRCm39)	N110I	probably benign	Het
Glce	T	C	9: 61,968,275 (GRCm39)	D292G	probably damaging	Het
Gm19410	T	A	8: 36,266,500 (GRCm39)	I1051K	probably benign	Het
Gm5773	A	T	3: 93,680,323 (GRCm39)		probably benign	Het
Hcn3	A	T	3: 89,057,307 (GRCm39)	H430Q	probably null	Het
Hspa8	T	A	9: 40,714,255 (GRCm39)		probably null	Het
Ifna7	A	T	4: 88,734,664 (GRCm39)	D67V	possibly damaging	Het
Kif5c	T	A	2: 49,591,105 (GRCm39)	M319K	probably benign	Het
Klk7	G	T	7: 43,462,197 (GRCm39)		probably null	Het
Kmt2c	T	C	5: 25,619,968 (GRCm39)	K102E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrp1b	C	T	2: 40,765,134 (GRCm39)	M2897I		Het
Lysmd2	T	C	9: 75,544,519 (GRCm39)	S211P	probably damaging	Het
Magi1	T	G	6: 93,685,095 (GRCm39)	E761A	probably benign	Het
Mbd5	T	A	2: 49,141,355 (GRCm39)	I106N	probably damaging	Het
Mdc1	G	A	17: 36,159,749 (GRCm39)	A669T	probably null	Het
Mmp1b	A	G	9: 7,384,753 (GRCm39)	I265T	probably benign	Het
Mmp2	T	A	8: 93,563,594 (GRCm39)	L356Q	probably null	Het
Mroh8	A	G	2: 157,111,492 (GRCm39)	L154P	probably benign	Het
Muc13	T	C	16: 33,619,806 (GRCm39)	S185P	unknown	Het
Nuak1	T	A	10: 84,210,403 (GRCm39)	I562F	probably benign	Het
Obscn	C	A	11: 58,933,664 (GRCm39)		probably null	Het
Or51t4	T	C	7: 102,597,798 (GRCm39)	I42T	possibly damaging	Het
Or5w14	A	T	2: 87,542,115 (GRCm39)	M45K	probably damaging	Het
Or9k7	T	C	10: 130,046,853 (GRCm39)	M49V	probably benign	Het
Pex3	T	C	10: 13,418,414 (GRCm39)	M81V	probably benign	Het
Pex5l	T	A	3: 33,136,184 (GRCm39)	I12F	probably benign	Het
Phf3	G	T	1: 30,870,556 (GRCm39)	T164N	probably benign	Het
Phpt1	G	T	2: 25,464,844 (GRCm39)	A3E	probably benign	Het
Pja2	A	T	17: 64,616,410 (GRCm39)	L162M	probably damaging	Het
Pkdrej	T	A	15: 85,703,994 (GRCm39)	K647N	probably damaging	Het
Ppp2r1a	T	C	17: 21,182,944 (GRCm39)	S543P	possibly damaging	Het
Prdm13	C	A	4: 21,679,072 (GRCm39)	D473Y	probably damaging	Het
Prl6a1	A	T	13: 27,502,954 (GRCm39)	E183D	probably damaging	Het
Psmd3	C	T	11: 98,581,787 (GRCm39)	T304M	probably benign	Het
Ptpn5	C	T	7: 46,735,874 (GRCm39)		probably null	Het
Rassf6	T	G	5: 90,754,661 (GRCm39)	I206L	probably damaging	Het
Rif1	A	G	2: 51,968,519 (GRCm39)	H234R	possibly damaging	Het
Rint1	T	C	5: 24,020,702 (GRCm39)	V575A	probably benign	Het
Ros1	G	A	10: 52,021,930 (GRCm39)	T639I	probably damaging	Het
Ryr2	A	G	13: 11,752,871 (GRCm39)	F1817L	probably benign	Het
Ska1	T	C	18: 74,333,088 (GRCm39)	D110G	probably benign	Het
Slc25a41	G	A	17: 57,340,791 (GRCm39)	T227I	probably damaging	Het
Slc6a15	T	C	10: 103,224,998 (GRCm39)	S29P	probably benign	Het
Slc8a3	A	T	12: 81,361,544 (GRCm39)	I425K	probably benign	Het
Tars3	T	C	7: 65,297,341 (GRCm39)	V152A	probably damaging	Het
Tbx10	A	T	19: 4,046,651 (GRCm39)	T44S	probably benign	Het
Terb1	T	A	8: 105,224,716 (GRCm39)	I52F	possibly damaging	Het
Tes	AGCCGGCC	AGCC	6: 17,099,740 (GRCm39)		probably null	Het
Tgm1	A	G	14: 55,943,360 (GRCm39)	V527A	probably benign	Het
Tmed10	G	T	12: 85,391,036 (GRCm39)	Y167*	probably null	Het
Tmem165	T	G	5: 76,356,415 (GRCm39)	S318R	possibly damaging	Het
Trim9	G	T	12: 70,393,715 (GRCm39)	S76R	probably damaging	Het
Tti1	A	G	2: 157,849,088 (GRCm39)	V717A	probably damaging	Het
Vmn2r86	T	A	10: 130,282,697 (GRCm39)	I640F	probably damaging	Het
Vwf	A	G	6: 125,603,230 (GRCm39)	N860S		Het
Xirp2	A	G	2: 67,339,241 (GRCm39)	K494R	possibly damaging	Het
Zkscan4	G	A	13: 21,668,419 (GRCm39)	S319N	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
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'- AGTAGGAAGCGCCTCCATAG -3'
(R):5'- AAGCCGTTGATTTGTACCTGTG -3'

Sequencing Primer
(F):5'- GGGCAAGTACTGGTCAAA -3'
(R):5'- TACCTGTGGCAGTTACCAGG -3'

Posted On

2019-10-17