Mutagenetix > Incidental Mutation

Incidental Mutation 'R7798:Sox2'

600337

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

045648-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7798 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34704554-34706610 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34704791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 76 (R76H)

Ref Sequence

ENSEMBL: ENSMUSP00000096755 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000099151
AA Change: R76H

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096755
Gene: ENSMUSG00000074637
AA Change: R76H

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: 99.6%
20x: 98.7%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,932 (GRCm39)	N128I	probably damaging	Het
Abca13	A	G	11: 9,241,664 (GRCm39)	T1176A	probably benign	Het
Abca9	A	G	11: 110,029,005 (GRCm39)	V851A	probably benign	Het
Abcc6	C	A	7: 45,626,277 (GRCm39)	E1494*	probably null	Het
Adamts14	A	T	10: 61,106,952 (GRCm39)	V56E	probably damaging	Het
Adamts15	G	A	9: 30,815,939 (GRCm39)	T639M	probably damaging	Het
Albfm1	T	C	5: 90,745,370 (GRCm39)	S608P	possibly damaging	Het
Arhgap11a	A	C	2: 113,673,680 (GRCm39)	V70G	probably damaging	Het
BC051665	A	T	13: 60,932,249 (GRCm39)	D113E	probably benign	Het
Best1	T	C	19: 9,969,035 (GRCm39)	Y227C	probably damaging	Het
Camk2b	A	G	11: 5,928,399 (GRCm39)	S447P	probably benign	Het
Ccdc88a	C	A	11: 29,427,348 (GRCm39)	Q1018K	probably benign	Het
Cdhr17	T	C	5: 17,061,656 (GRCm39)	F801L	possibly damaging	Het
Cfap74	T	A	4: 155,507,079 (GRCm39)	V180D		Het
Clca3a1	T	A	3: 144,463,723 (GRCm39)	T185S	probably damaging	Het
Clca3b	T	C	3: 144,533,891 (GRCm39)	S495G	probably damaging	Het
Cyb5r2	A	T	7: 107,353,155 (GRCm39)	Y96N	possibly damaging	Het
Cyp21a1	T	C	17: 35,023,295 (GRCm39)	K27E	probably benign	Het
Cyp2ab1	T	C	16: 20,131,166 (GRCm39)	E321G	probably benign	Het
Des	T	C	1: 75,339,003 (GRCm39)	I228T	probably damaging	Het
Dis3l	G	T	9: 64,248,299 (GRCm39)	P39T	probably benign	Het
Disp2	A	C	2: 118,622,360 (GRCm39)	I1031L	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,786,757 (GRCm39)		probably null	Het
Fgf23	A	T	6: 127,050,177 (GRCm39)	D62V	probably damaging	Het
Galnt15	C	T	14: 31,751,862 (GRCm39)	T138I	possibly damaging	Het
Ggt6	A	T	11: 72,326,367 (GRCm39)		probably benign	Het
Gpr180	T	A	14: 118,391,098 (GRCm39)	V209D	probably damaging	Het
Gzma	A	T	13: 113,232,858 (GRCm39)	F78Y	probably benign	Het
Igkv8-30	A	T	6: 70,094,355 (GRCm39)	C19S	probably benign	Het
Il1r1	G	A	1: 40,349,526 (GRCm39)	V361I	probably benign	Het
Intu	T	C	3: 40,646,359 (GRCm39)	V598A	probably damaging	Het
Itpr2	A	G	6: 146,287,513 (GRCm39)	F471L	probably benign	Het
Kntc1	T	A	5: 123,924,357 (GRCm39)	V1081E	probably benign	Het
Kntc1	T	A	5: 123,957,180 (GRCm39)	V2163E	possibly damaging	Het
Macf1	T	C	4: 123,271,893 (GRCm39)	K6552E	probably damaging	Het
Marf1	T	C	16: 13,956,315 (GRCm39)	H842R	probably benign	Het
Mgat4b	A	G	11: 50,116,497 (GRCm39)	T10A	possibly damaging	Het
Muc21	C	G	17: 35,932,146 (GRCm39)	G680A	unknown	Het
Muc5ac	T	C	7: 141,347,778 (GRCm39)		probably null	Het
Nrk	CGCAGCAGCAGCAGCAGCAGC	CGCAGCAGCAGCAGCAGC	X: 137,883,426 (GRCm39)		probably benign	Het
Nsun4	T	G	4: 115,908,371 (GRCm39)	S730R	possibly damaging	Het
Or12e1	A	T	2: 87,022,636 (GRCm39)	I202L	probably benign	Het
Or12k7	A	T	2: 36,959,186 (GRCm39)	S290C	probably damaging	Het
Or1n1	T	C	2: 36,750,348 (GRCm39)	E4G	probably benign	Het
Or4f6	A	G	2: 111,838,617 (GRCm39)	F305L	probably benign	Het
Or4k15	A	T	14: 50,364,895 (GRCm39)	Y287F	probably damaging	Het
Padi3	C	T	4: 140,513,750 (GRCm39)	E653K	probably benign	Het
Pde4a	A	G	9: 21,109,959 (GRCm39)	E280G	possibly damaging	Het
Phactr3	G	A	2: 177,925,703 (GRCm39)	R326H	probably benign	Het
Prob1	G	A	18: 35,786,397 (GRCm39)	P619L	possibly damaging	Het
Ptk2	G	A	15: 73,167,224 (GRCm39)	R368W	probably damaging	Het
Rgs6	A	G	12: 83,116,293 (GRCm39)	T240A	probably benign	Het
Rpa1	A	T	11: 75,203,635 (GRCm39)	Y356N	probably damaging	Het
Rxrb	T	A	17: 34,252,579 (GRCm39)	D165E	probably damaging	Het
Sco1	A	G	11: 66,944,628 (GRCm39)	T84A	possibly damaging	Het
Sepsecs	T	C	5: 52,804,531 (GRCm39)	I380V	probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slco3a1	A	G	7: 73,968,344 (GRCm39)	S459P	probably benign	Het
Smg1	A	T	7: 117,771,162 (GRCm39)	S1503R	possibly damaging	Het
Spty2d1	G	A	7: 46,645,804 (GRCm39)	S613F	probably damaging	Het
Stab2	A	T	10: 86,793,776 (GRCm39)	Y440N	probably damaging	Het
Syn3	A	G	10: 85,916,117 (GRCm39)	Y290H	probably damaging	Het
Tex15	C	T	8: 34,071,875 (GRCm39)	S2474F	possibly damaging	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmcc1	A	T	6: 116,020,539 (GRCm39)	S304R		Het
Tmem130	T	G	5: 144,680,580 (GRCm39)	K275Q	probably damaging	Het
Tmem9	C	A	1: 135,961,927 (GRCm39)	T174K	probably damaging	Het
Ttyh3	C	T	5: 140,620,538 (GRCm39)	R233Q	probably damaging	Het
Tut7	A	T	13: 59,963,389 (GRCm39)	M323K	possibly damaging	Het
Twnk	T	C	19: 44,996,107 (GRCm39)	M180T	probably benign	Het
Ube4a	A	G	9: 44,844,629 (GRCm39)	V874A	probably damaging	Het
Ugt2a3	T	C	5: 87,475,582 (GRCm39)	N350S	probably damaging	Het
Vegfa	C	T	17: 46,342,761 (GRCm39)	G19D	probably damaging	Het
Vmn2r2	C	A	3: 64,041,518 (GRCm39)	C399F	possibly damaging	Het
Vmn2r65	G	T	7: 84,595,530 (GRCm39)	P385T	probably benign	Het
Vmn2r65	A	G	7: 84,596,192 (GRCm39)	F164S	probably 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
R7801:Sox2	UTSW	3	34,704,791 (GRCm39)	missense	probably damaging	0.96
R8684:Sox2	UTSW	3	34,705,016 (GRCm39)	missense	probably benign	0.00
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'- TAATCACAACAATCGCGGCG -3'
(R):5'- TTGCTCCAGCCGTTCATGTG -3'

Sequencing Primer
(F):5'- AGCGCCCGCATGTATAAC -3'
(R):5'- CCGTTCATGTGCGCGTAG -3'

Posted On

2019-11-26