Mutagenetix > Incidental Mutation

Incidental Mutation 'R7258:Sox30'

574710

Institutional Source

Beutler Lab

Gene Symbol

Sox30

Ensembl Gene

ENSMUSG00000040489

Gene Name

SRY (sex determining region Y)-box 30

Synonyms

MMRRC Submission

045386-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7258 (G1)

Quality Score

71.0074

Status

Validated

Chromosome

Chromosomal Location

45871137-45908821 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45871379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 78 (A78E)

Ref Sequence

ENSEMBL: ENSMUSP00000037519 (fasta)

Gene Model

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

AlphaFold

Q8CGW4

Predicted Effect

unknown
Transcript: ENSMUST00000049038
AA Change: A78E

SMART Domains

Protein: ENSMUSP00000037519
Gene: ENSMUSG00000040489
AA Change: A78E

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	C	8: 88,312,805 (GRCm39)	S197R	probably damaging	Het
Abcc12	T	C	8: 87,287,486 (GRCm39)	R120G	possibly damaging	Het
Abhd14b	A	G	9: 106,327,418 (GRCm39)	I67V	probably benign	Het
Alpk1	A	T	3: 127,518,115 (GRCm39)	V62E	probably damaging	Het
Ankar	A	G	1: 72,690,886 (GRCm39)	V1196A	probably benign	Het
Ccr5	A	T	9: 123,925,311 (GRCm39)	K305*	probably null	Het
Cdc42bpb	T	C	12: 111,292,518 (GRCm39)	H339R	probably damaging	Het
Cdhr18	A	T	14: 13,899,648 (GRCm38)	F91L		Het
Cep290	T	G	10: 100,334,970 (GRCm39)	M330R	probably benign	Het
Cyfip2	T	C	11: 46,115,004 (GRCm39)	Y901C	probably benign	Het
Ddx54	T	G	5: 120,758,812 (GRCm39)	Y352D	probably damaging	Het
Defa35	A	T	8: 21,555,245 (GRCm39)	H55L	possibly damaging	Het
Dnmt3b	T	A	2: 153,525,519 (GRCm39)		probably null	Het
Enpep	A	C	3: 129,125,724 (GRCm39)	L136R	probably benign	Het
Epb41l2	G	A	10: 25,360,185 (GRCm39)	A516T	probably damaging	Het
Frmd4a	A	T	2: 4,305,764 (GRCm39)	Q13L	probably benign	Het
Frmpd1	C	A	4: 45,269,974 (GRCm39)	D271E	possibly damaging	Het
Gbp5	T	A	3: 142,212,542 (GRCm39)	L410H	probably damaging	Het
Gipc2	T	C	3: 151,871,352 (GRCm39)	E58G	probably damaging	Het
Gm6309	A	T	5: 146,105,106 (GRCm39)	V269E	probably benign	Het
Grm5	A	T	7: 87,723,914 (GRCm39)	T735S	probably damaging	Het
H6pd	T	C	4: 150,080,819 (GRCm39)	M9V	probably benign	Het
Hmcn1	A	G	1: 150,591,574 (GRCm39)	I1875T	probably benign	Het
Hrc	T	A	7: 44,985,720 (GRCm39)	D290E	possibly damaging	Het
Iftap	T	C	2: 101,440,937 (GRCm39)	D22G	probably null	Het
Ippk	C	A	13: 49,587,338 (GRCm39)	Q136K	probably benign	Het
Kcnv1	T	C	15: 44,972,711 (GRCm39)	T391A	probably damaging	Het
Kdm5b	A	C	1: 134,548,759 (GRCm39)	E1088A	probably damaging	Het
L1td1	C	T	4: 98,625,101 (GRCm39)	A432V	probably benign	Het
Ly86	A	G	13: 37,529,473 (GRCm39)	D20G	probably benign	Het
Myo1g	A	G	11: 6,459,416 (GRCm39)	I818T	possibly damaging	Het
Nms	A	G	1: 38,986,051 (GRCm39)	T121A	probably benign	Het
Or1e31	T	G	11: 73,690,206 (GRCm39)	I126L	probably damaging	Het
Or1j4	T	A	2: 36,740,352 (GRCm39)	I98K	probably damaging	Het
Or51af1	G	C	7: 103,141,796 (GRCm39)	C96W	probably damaging	Het
Or6b3	A	T	1: 92,438,898 (GRCm39)	I284N	possibly damaging	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or8k37	T	A	2: 86,469,345 (GRCm39)	K236*	probably null	Het
Pcdhb9	T	C	18: 37,535,167 (GRCm39)	L387P	probably damaging	Het
Pcsk1	G	A	13: 75,241,305 (GRCm39)	R95H	probably damaging	Het
Pde11a	T	C	2: 75,970,250 (GRCm39)	D502G	possibly damaging	Het
Plekhg2	T	C	7: 28,064,203 (GRCm39)	D446G	probably benign	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rasal2	A	T	1: 156,985,270 (GRCm39)	L826M	probably damaging	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Sin3b	T	C	8: 73,476,836 (GRCm39)	C757R	probably benign	Het
Slc41a1	T	A	1: 131,769,780 (GRCm39)	V300D	probably benign	Het
Snorc	A	C	1: 87,402,789 (GRCm39)	I40L	probably benign	Het
Snrpa1	T	C	7: 65,719,891 (GRCm39)	F162L	probably damaging	Het
Ssc4d	G	T	5: 135,991,941 (GRCm39)	A401E	probably damaging	Het
Steap3	A	G	1: 120,171,716 (GRCm39)	F130L	possibly damaging	Het
Stx5a	A	G	19: 8,732,271 (GRCm39)		probably null	Het
Tgfbr2	A	T	9: 115,958,898 (GRCm39)	I172N	probably damaging	Het
Tgm4	A	G	9: 122,891,556 (GRCm39)	D557G	probably benign	Het
Tmprss11c	A	G	5: 86,419,272 (GRCm39)	S96P	probably damaging	Het
Trpa1	T	G	1: 14,973,473 (GRCm39)	T282P	probably damaging	Het
Uba5	A	T	9: 103,940,132 (GRCm39)	V5E	unknown	Het
Ugt2b36	A	T	5: 87,228,762 (GRCm39)	L427H	probably damaging	Het
Utp14b	T	A	1: 78,642,691 (GRCm39)	H196Q	probably benign	Het
Vmn2r44	T	A	7: 8,380,848 (GRCm39)	L348F	probably damaging	Het
Vmn2r93	T	G	17: 18,525,403 (GRCm39)	L354V	probably benign	Het
Wwc2	T	A	8: 48,296,034 (GRCm39)	N1079Y	unknown	Het
Zfp653	T	C	9: 21,977,116 (GRCm39)	D145G	probably benign	Het
Zfp777	T	C	6: 48,002,731 (GRCm39)	E453G	probably damaging	Het
Zfp936	T	A	7: 42,839,803 (GRCm39)	H423Q	probably damaging	Het
Zfyve9	A	T	4: 108,514,151 (GRCm39)	Y496N	possibly 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
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
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
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'- AAACGGCTGAGCTCACAATC -3'
(R):5'- GATGACTCCTTCTCCGATGG -3'

Sequencing Primer
(F):5'- TGAGCTCACAATCCCGGC -3'
(R):5'- TTTCAGCGCATCCCTCGGAG -3'

Posted On

2019-10-07