Mutagenetix > Incidental Mutation

Incidental Mutation 'R6063:Sox30'

483924

Institutional Source

Beutler Lab

Gene Symbol

Sox30

Ensembl Gene

ENSMUSG00000040489

Gene Name

SRY (sex determining region Y)-box 30

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45871137-45908821 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45882769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 600 (V600I)

Ref Sequence

ENSEMBL: ENSMUSP00000037519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049038]

AlphaFold

Q8CGW4

Predicted Effect

probably benign
Transcript: ENSMUST00000049038
AA Change: V600I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000037519
Gene: ENSMUSG00000040489
AA Change: V600I

Domain	Start	End	E-Value	Type
low complexity region	3	36	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	50	80	N/A	INTRINSIC
low complexity region	92	104	N/A	INTRINSIC
low complexity region	110	141	N/A	INTRINSIC
low complexity region	210	220	N/A	INTRINSIC
HMG	365	435	8.35e-24	SMART
low complexity region	523	539	N/A	INTRINSIC
Blast:Pept_C1	572	734	1e-92	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

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 acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]
PHENOTYPE: Male mice homozygous for a null allele are infertile with arrest of spermiogenesis and azoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,483,318 (GRCm39)	R1713C	unknown	Het
Ano6	C	T	15: 95,846,298 (GRCm39)	T512I	probably damaging	Het
Ap3s1	T	C	18: 46,887,505 (GRCm39)	V46A	probably benign	Het
Art2a	C	A	7: 101,204,413 (GRCm39)	V42F	probably damaging	Het
Asph	C	T	4: 9,531,960 (GRCm39)	V386M	probably benign	Het
B4galnt4	T	A	7: 140,644,643 (GRCm39)	D179E	probably benign	Het
Bbx	T	C	16: 50,071,730 (GRCm39)	I232V	probably benign	Het
C1ql2	A	G	1: 120,269,321 (GRCm39)	I159V	probably benign	Het
Ccar1	A	G	10: 62,612,496 (GRCm39)	V223A	possibly damaging	Het
Cd2ap	A	T	17: 43,136,802 (GRCm39)	L277I	probably benign	Het
Cfap44	G	A	16: 44,250,255 (GRCm39)	E778K	probably benign	Het
Chd3	A	T	11: 69,240,063 (GRCm39)	D1626E	probably benign	Het
Crocc	C	T	4: 140,769,032 (GRCm39)	G505S	probably benign	Het
Crocc	T	A	4: 140,773,851 (GRCm39)	Q72L	probably damaging	Het
Drosha	T	C	15: 12,834,156 (GRCm39)		probably benign	Het
Eps8l1	T	A	7: 4,474,296 (GRCm39)	S256T	possibly damaging	Het
F830045P16Rik	A	G	2: 129,316,310 (GRCm39)	V133A	probably damaging	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Fhdc1	G	A	3: 84,353,336 (GRCm39)	L630F	probably benign	Het
Gon4l	T	C	3: 88,807,306 (GRCm39)	S1667P	probably damaging	Het
Greb1l	A	C	18: 10,557,340 (GRCm39)	K1780T	probably damaging	Het
H2-Q10	C	T	17: 35,781,026 (GRCm39)	T8M	probably benign	Het
Hmcn2	A	T	2: 31,324,725 (GRCm39)	T4215S	probably benign	Het
I0C0044D17Rik	G	A	4: 98,708,576 (GRCm39)		probably benign	Het
Ifi204	A	G	1: 173,579,223 (GRCm39)	F541L	probably benign	Het
Igkv6-17	C	T	6: 70,348,764 (GRCm39)	A45V	probably damaging	Het
Intu	G	A	3: 40,608,524 (GRCm39)	A161T	probably damaging	Het
Kcnmb2	A	G	3: 32,233,141 (GRCm39)	Y73C	probably damaging	Het
Lrit1	T	C	14: 36,776,945 (GRCm39)	F22L	probably benign	Het
Lrp1b	A	T	2: 41,174,156 (GRCm39)	C699*	probably null	Het
Lrrc8d	A	G	5: 105,959,992 (GRCm39)	D134G	probably benign	Het
Map1b	T	C	13: 99,567,645 (GRCm39)	D1692G	unknown	Het
Met	C	T	6: 17,491,967 (GRCm39)	S243F	probably damaging	Het
Mlph	C	A	1: 90,855,882 (GRCm39)	H96Q	probably damaging	Het
Mycbp2	A	T	14: 103,372,582 (GRCm39)	V4088D	probably damaging	Het
Nampt	T	A	12: 32,898,658 (GRCm39)	S425T	probably damaging	Het
Nts	G	A	10: 102,320,856 (GRCm39)	H78Y	probably benign	Het
Nxf1	A	G	19: 8,745,151 (GRCm39)	E467G	possibly damaging	Het
Olfml2a	C	A	2: 38,841,155 (GRCm39)	D230E	probably benign	Het
Or4b13	C	A	2: 90,082,771 (GRCm39)	C187F	probably benign	Het
Or52n2c	C	T	7: 104,574,599 (GRCm39)	R124H	probably benign	Het
Pcsk5	A	G	19: 17,432,045 (GRCm39)		probably null	Het
Pde5a	C	A	3: 122,618,574 (GRCm39)	T629K	probably benign	Het
Plcb3	G	T	19: 6,940,202 (GRCm39)	R462S	possibly damaging	Het
Pnpla6	T	A	8: 3,574,156 (GRCm39)	M469K	probably benign	Het
Pram1	A	T	17: 33,860,386 (GRCm39)	K318*	probably null	Het
Prkd1	T	C	12: 50,388,826 (GRCm39)	R906G	probably benign	Het
Ptprh	T	A	7: 4,576,361 (GRCm39)	T300S	possibly damaging	Het
Rdh16f2	A	G	10: 127,712,743 (GRCm39)	Y247C	probably benign	Het
Rimbp3	A	G	16: 17,028,781 (GRCm39)	E735G	probably damaging	Het
Sall3	G	A	18: 81,017,470 (GRCm39)	P153S	possibly damaging	Het
Samd4b	T	A	7: 28,123,056 (GRCm39)	M1L	possibly damaging	Het
Septin12	T	C	16: 4,810,127 (GRCm39)	E136G	probably damaging	Het
Shpk	A	T	11: 73,104,270 (GRCm39)	K140*	probably null	Het
Sidt1	G	T	16: 44,079,829 (GRCm39)	F608L	probably benign	Het
Skint5	A	G	4: 113,347,842 (GRCm39)	Y1300H	probably benign	Het
Slc22a28	G	A	19: 8,094,386 (GRCm39)	P212S	probably benign	Het
Slc22a5	A	T	11: 53,758,359 (GRCm39)	F480L	possibly damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc3a1	C	T	17: 85,335,951 (GRCm39)	P31L	probably benign	Het
Slc4a7	T	C	14: 14,793,964 (GRCm38)	V1074A	possibly damaging	Het
Snx2	C	T	18: 53,342,697 (GRCm39)	Q254*	probably null	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tdpoz9	A	G	3: 93,957,408 (GRCm39)	F7L	probably benign	Het
Tdrd7	A	G	4: 46,005,486 (GRCm39)	T431A	probably benign	Het
Tenm2	A	T	11: 36,054,544 (GRCm39)		probably null	Het
Tigar	A	G	6: 127,068,164 (GRCm39)	S85P	probably benign	Het
Tnr	A	C	1: 159,740,254 (GRCm39)	M1143L	probably benign	Het
Trio	G	T	15: 27,891,465 (GRCm39)	Q429K	possibly damaging	Het
Urb1	T	C	16: 90,585,985 (GRCm39)	I452M	probably benign	Het
Uroc1	A	T	6: 90,324,910 (GRCm39)	E461V	probably benign	Het
Vax1	C	A	19: 59,157,036 (GRCm39)	R99L	unknown	Het
Xab2	A	T	8: 3,663,051 (GRCm39)	I510N	possibly damaging	Het
Zbtb34	A	T	2: 33,301,842 (GRCm39)	I233K	possibly damaging	Het
Zbtb47	A	G	9: 121,592,598 (GRCm39)	E306G	probably benign	Het
Zfp27	A	G	7: 29,593,727 (GRCm39)	F746S	probably damaging	Het
Zfp719	C	T	7: 43,239,050 (GRCm39)	Q213*	probably null	Het
Zswim6	T	C	13: 107,865,112 (GRCm39)		noncoding transcript	Het

Other mutations in Sox30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Sox30	APN	11	45,882,727 (GRCm39)	missense	possibly damaging	0.95
IGL01449:Sox30	APN	11	45,872,169 (GRCm39)	missense	probably damaging	1.00
IGL02411:Sox30	APN	11	45,871,951 (GRCm39)	nonsense	probably null
IGL02601:Sox30	APN	11	45,875,589 (GRCm39)	missense	possibly damaging	0.81
IGL02747:Sox30	APN	11	45,871,772 (GRCm39)	missense	probably benign	0.00
IGL03403:Sox30	APN	11	45,908,035 (GRCm39)	missense	probably damaging	1.00
R0104:Sox30	UTSW	11	45,872,141 (GRCm39)	missense	possibly damaging	0.93
R1450:Sox30	UTSW	11	45,908,098 (GRCm39)	missense	probably damaging	0.99
R2109:Sox30	UTSW	11	45,882,595 (GRCm39)	missense	probably damaging	0.99
R2213:Sox30	UTSW	11	45,875,679 (GRCm39)	missense	probably damaging	1.00
R3715:Sox30	UTSW	11	45,875,619 (GRCm39)	missense	probably damaging	0.99
R4111:Sox30	UTSW	11	45,908,041 (GRCm39)	missense	probably benign	0.09
R4723:Sox30	UTSW	11	45,875,592 (GRCm39)	missense	probably benign	0.03
R5014:Sox30	UTSW	11	45,882,736 (GRCm39)	missense	probably benign	0.01
R5408:Sox30	UTSW	11	45,882,694 (GRCm39)	missense	possibly damaging	0.54
R5974:Sox30	UTSW	11	45,871,900 (GRCm39)	missense	probably damaging	0.99
R6948:Sox30	UTSW	11	45,908,166 (GRCm39)	missense	probably damaging	1.00
R7242:Sox30	UTSW	11	45,875,347 (GRCm39)	splice site	probably null
R7258:Sox30	UTSW	11	45,871,379 (GRCm39)	missense	unknown
R8195:Sox30	UTSW	11	45,882,592 (GRCm39)	missense	probably benign	0.00
R9205:Sox30	UTSW	11	45,908,180 (GRCm39)	missense	probably damaging	1.00
R9605:Sox30	UTSW	11	45,875,640 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GGCCTTCCCAAACTGACATTC -3'
(R):5'- CCGTTTTCACCAGGAAAGAAATG -3'

Posted On

2017-07-14