Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:Sox30'

84572

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

45871137-45908821 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45872169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 341 (D341E)

Ref Sequence

ENSEMBL: ENSMUSP00000037519 (fasta)

Gene Model

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

AlphaFold

Q8CGW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049038
AA Change: D341E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037519
Gene: ENSMUSG00000040489
AA Change: D341E

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 73,198,693 (GRCm39)	L33F	probably benign	Het
Actr8	T	C	14: 29,712,927 (GRCm39)		probably null	Het
Aldh16a1	C	A	7: 44,791,391 (GRCm39)	A105S	probably damaging	Het
Angpt2	T	C	8: 18,760,641 (GRCm39)	T154A	probably benign	Het
BC051665	A	G	13: 60,930,518 (GRCm39)	V278A	probably damaging	Het
Cap1	T	C	4: 122,753,980 (GRCm39)	T458A	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,632,978 (GRCm39)	D408G	probably benign	Het
Fam217b	T	A	2: 178,062,943 (GRCm39)	S302R	probably damaging	Het
Fcho2	A	T	13: 98,926,315 (GRCm39)	D89E	probably benign	Het
Fnip1	C	T	11: 54,390,334 (GRCm39)	R434C	probably damaging	Het
Gga3	G	A	11: 115,479,928 (GRCm39)	T261M	probably damaging	Het
Gm21985	T	C	2: 112,169,741 (GRCm39)	F292L	probably damaging	Het
Gm43638	A	T	5: 87,634,074 (GRCm39)	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,657,748 (GRCm39)	G68E	probably damaging	Het
Katnip	T	A	7: 125,469,857 (GRCm39)	V1442D	probably damaging	Het
Lpcat2	G	A	8: 93,597,775 (GRCm39)	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,218,527 (GRCm39)	A1984T	possibly damaging	Het
Npy4r	T	A	14: 33,868,322 (GRCm39)	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,962,937 (GRCm39)	H840Q	probably damaging	Het
Or7g26	G	A	9: 19,230,529 (GRCm39)	G233D	probably damaging	Het
Osbpl2	G	T	2: 179,786,987 (GRCm39)		probably benign	Het
Pclo	T	A	5: 14,728,530 (GRCm39)		probably benign	Het
Pold4	T	C	19: 4,282,921 (GRCm39)		probably benign	Het
Ppp1r16a	A	G	15: 76,578,494 (GRCm39)		probably benign	Het
Pprc1	C	T	19: 46,053,671 (GRCm39)		probably benign	Het
Prkcg	A	G	7: 3,368,135 (GRCm39)	D343G	probably benign	Het
Scaf11	A	C	15: 96,317,007 (GRCm39)	S852R	probably benign	Het
Slc31a2	C	T	4: 62,210,933 (GRCm39)	T22I	probably damaging	Het
Tle4	A	G	19: 14,442,704 (GRCm39)	S339P	probably benign	Het
Tsg101	A	T	7: 46,558,673 (GRCm39)	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,629,630 (GRCm39)	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,631,129 (GRCm39)	S142T	probably benign	Het
Ubr4	C	A	4: 139,140,047 (GRCm39)	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,315,635 (GRCm39)	P172Q	probably damaging	Het
Usp12	T	C	5: 146,691,250 (GRCm39)	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,529,916 (GRCm39)	M287L	probably benign	Het
Vwa8	C	T	14: 79,420,428 (GRCm39)	Q1710*	probably null	Het
Wdfy4	T	A	14: 32,825,994 (GRCm39)	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,190,616 (GRCm39)	T145A	probably benign	Het
Zfp697	T	C	3: 98,334,846 (GRCm39)	C204R	probably damaging	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
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
R6063:Sox30	UTSW	11	45,882,769 (GRCm39)	missense	probably benign	0.04
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

Posted On

2013-11-11