Mutagenetix > Incidental Mutation

Incidental Mutation 'R8684:Sox2'

661932

Institutional Source

Beutler Lab

Gene Symbol

Sox2

Ensembl Gene

ENSMUSG00000074637

Gene Name

SRY (sex determining region Y)-box 2

Synonyms

Sox-2, lcc, ysb

MMRRC Submission

068539-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34704554-34706610 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34705016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 151 (L151Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099151]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099151
AA Change: L151Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096755
Gene: ENSMUSG00000074637
AA Change: L151Q

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
HMG	42	112	1.8e-28	SMART
low complexity region	137	156	N/A	INTRINSIC
low complexity region	248	263	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in a similar gene in human have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (Sox2ot). [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations implant but fail to develop an egg cylinder or epiblast, and die shortly thereafter. Other mutations that affect only regulatory elements show circling behavior and deafness, inner ear defects, and a yellow coat color. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	C	T	7: 42,097,413 (GRCm39)	R27H	probably benign	Het
Abca2	T	A	2: 25,336,508 (GRCm39)	L2229Q	possibly damaging	Het
Adamts4	A	T	1: 171,086,541 (GRCm39)	T778S	probably damaging	Het
AY358078	T	G	14: 52,059,597 (GRCm39)	Y311*	probably null	Het
Catsperg1	C	T	7: 28,897,825 (GRCm39)	V181M	probably damaging	Het
Cdcp3	C	A	7: 130,837,688 (GRCm39)	S528*	probably null	Het
Cep70	A	G	9: 99,145,842 (GRCm39)	K170E	possibly damaging	Het
Coro1b	T	A	19: 4,199,527 (GRCm39)	V62E	probably damaging	Het
Dnajc11	T	C	4: 152,065,183 (GRCm39)	*560Q	probably null	Het
Eci3	T	C	13: 35,143,874 (GRCm39)	N84D	probably damaging	Het
F5	T	A	1: 164,045,111 (GRCm39)	V2133E	probably benign	Het
Fancl	C	A	11: 26,420,826 (GRCm39)	P116Q		Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,492,669 (GRCm39)		probably null	Het
Golgb1	C	T	16: 36,734,764 (GRCm39)	T1378M	possibly damaging	Het
Hdac5	T	C	11: 102,096,147 (GRCm39)	N342S	probably benign	Het
Herc3	A	G	6: 58,864,561 (GRCm39)	K732E	probably damaging	Het
Lce1e	A	T	3: 92,615,269 (GRCm39)	I26N	unknown	Het
Lingo1	T	C	9: 56,528,106 (GRCm39)	Y167C	probably damaging	Het
Loxl3	A	G	6: 83,012,566 (GRCm39)	E35G	probably benign	Het
Mmp13	A	G	9: 7,282,089 (GRCm39)	M464V	possibly damaging	Het
Mov10	T	C	3: 104,711,690 (GRCm39)	H199R	probably benign	Het
Nbas	A	G	12: 13,386,368 (GRCm39)	T765A	probably damaging	Het
Nlgn3	C	T	X: 100,363,425 (GRCm39)	R679*	probably null	Het
Nrp1	C	T	8: 129,085,885 (GRCm39)		probably benign	Het
Nup88	C	A	11: 70,860,687 (GRCm39)	V31L	probably benign	Het
Or2r11	T	C	6: 42,437,827 (GRCm39)	N42S	probably damaging	Het
Or5d39	T	C	2: 87,979,872 (GRCm39)	T164A	probably benign	Het
Or7a36	A	T	10: 78,820,212 (GRCm39)	D196V	probably benign	Het
Pah	A	G	10: 87,414,827 (GRCm39)	N393S	probably benign	Het
Peli3	T	C	19: 4,985,022 (GRCm39)	Y163C	probably damaging	Het
Rasgef1b	A	T	5: 99,524,994 (GRCm39)	M55K	probably benign	Het
Ror2	T	C	13: 53,264,302 (GRCm39)	D930G	possibly damaging	Het
Rpgrip1l	T	G	8: 92,000,329 (GRCm39)	M537L	probably benign	Het
Ryr2	A	T	13: 11,702,875 (GRCm39)	V2871E	probably damaging	Het
Smco1	A	T	16: 32,092,841 (GRCm39)	N171Y	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spink5	A	G	18: 44,143,305 (GRCm39)	E754G	probably benign	Het
Sulf1	A	T	1: 12,867,004 (GRCm39)	M63L	probably benign	Het
Traf2	A	G	2: 25,410,458 (GRCm39)	M390T	probably damaging	Het
Trav13d-4	T	C	14: 53,310,266 (GRCm39)	V16A	probably damaging	Het
Trmo	C	T	4: 46,386,251 (GRCm39)	W84*	probably null	Het
Trmo	T	C	4: 46,386,253 (GRCm39)		probably null	Het
Ttyh1	T	A	7: 4,133,791 (GRCm39)		probably benign	Het
Ush2a	A	G	1: 188,643,220 (GRCm39)	N4194S	possibly damaging	Het
Vmn2r45	T	C	7: 8,486,511 (GRCm39)	Y259C	probably damaging	Het
Vmn2r94	T	A	17: 18,497,912 (GRCm39)		probably benign	Het
Zfp101	A	G	17: 33,600,977 (GRCm39)	S260P	possibly damaging	Het

Other mutations in Sox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02578:Sox2	APN	3	34,704,745 (GRCm39)	missense	probably benign	0.37
IGL03397:Sox2	APN	3	34,704,686 (GRCm39)	missense	probably damaging	0.99
R1164:Sox2	UTSW	3	34,704,848 (GRCm39)	missense	probably damaging	1.00
R1667:Sox2	UTSW	3	34,704,568 (GRCm39)	missense	probably damaging	1.00
R1829:Sox2	UTSW	3	34,704,890 (GRCm39)	missense	probably damaging	0.99
R1925:Sox2	UTSW	3	34,704,820 (GRCm39)	nonsense	probably null
R2066:Sox2	UTSW	3	34,705,456 (GRCm39)	missense	possibly damaging	0.63
R4170:Sox2	UTSW	3	34,704,703 (GRCm39)	missense	probably damaging	0.99
R4585:Sox2	UTSW	3	34,705,193 (GRCm39)	missense	probably benign	0.02
R4586:Sox2	UTSW	3	34,705,193 (GRCm39)	missense	probably benign	0.02
R4703:Sox2	UTSW	3	34,704,862 (GRCm39)	missense	probably damaging	1.00
R5509:Sox2	UTSW	3	34,704,938 (GRCm39)	missense	probably damaging	0.98
R5549:Sox2	UTSW	3	34,705,142 (GRCm39)	missense	probably benign	0.01
R5637:Sox2	UTSW	3	34,704,677 (GRCm39)	missense	probably benign	0.03
R6494:Sox2	UTSW	3	34,705,246 (GRCm39)	missense	probably benign	0.01
R7117:Sox2	UTSW	3	34,705,075 (GRCm39)	missense	possibly damaging	0.95
R7210:Sox2	UTSW	3	34,705,306 (GRCm39)	missense	probably damaging	1.00
R7365:Sox2	UTSW	3	34,705,121 (GRCm39)	missense	possibly damaging	0.60
R7798:Sox2	UTSW	3	34,704,791 (GRCm39)	missense	probably damaging	0.96
R7801:Sox2	UTSW	3	34,704,791 (GRCm39)	missense	probably damaging	0.96
R8889:Sox2	UTSW	3	34,705,129 (GRCm39)	missense	possibly damaging	0.66
R9013:Sox2	UTSW	3	34,704,746 (GRCm39)	missense	probably damaging	1.00
X0024:Sox2	UTSW	3	34,704,838 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTGTCCGAGACCGAGAAGC -3'
(R):5'- TCATGTAGGTCTGCGAGCTG -3'

Sequencing Primer
(F):5'- AGAAGCGGCCGTTCATC -3'
(R):5'- CTGCGAGCTGGTCATGGAG -3'

Posted On

2021-03-08