Mutagenetix > Incidental Mutation

Incidental Mutation 'R9605:Sox30'

726444

Institutional Source

Beutler Lab

Gene Symbol

Sox30

Ensembl Gene

ENSMUSG00000040489

Gene Name

SRY (sex determining region Y)-box 30

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45871137-45908821 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45875640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 464 (N464S)

Ref Sequence

ENSEMBL: ENSMUSP00000037519 (fasta)

Gene Model

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

AlphaFold

Q8CGW4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049038
AA Change: N464S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037519
Gene: ENSMUSG00000040489
AA Change: N464S

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

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aatk	T	C	11: 119,902,209 (GRCm39)	E729G	possibly damaging	Het
Acaa2	A	G	18: 74,932,230 (GRCm39)	T290A	probably benign	Het
Acaca	C	T	11: 84,183,842 (GRCm39)	T1240I	probably benign	Het
Adgre1	A	G	17: 57,718,083 (GRCm39)	N365S	probably benign	Het
Adipor1	A	G	1: 134,352,553 (GRCm39)	D108G	probably damaging	Het
Aebp2	A	G	6: 140,593,736 (GRCm39)	Q462R	probably damaging	Het
Afg2a	C	T	3: 37,505,930 (GRCm39)	P670S	probably damaging	Het
Arhgef4	A	G	1: 34,761,745 (GRCm39)	T334A	unknown	Het
Art5	T	C	7: 101,746,412 (GRCm39)	E280G	probably benign	Het
Bloc1s3	A	G	7: 19,241,457 (GRCm39)	S24P	possibly damaging	Het
C2	T	A	17: 35,081,958 (GRCm39)	N720I	possibly damaging	Het
Caprin2	T	C	6: 148,744,332 (GRCm39)	D1031G	probably damaging	Het
Catsper1	A	G	19: 5,387,785 (GRCm39)	T355A	probably benign	Het
Cd19	T	A	7: 126,010,057 (GRCm39)	E398D	possibly damaging	Het
Cdca8	T	C	4: 124,830,384 (GRCm39)	E31G	probably damaging	Het
Ceacam5	G	A	7: 17,493,520 (GRCm39)	V848M	probably damaging	Het
Chd8	A	T	14: 52,457,055 (GRCm39)	L971Q	probably damaging	Het
Ciao1	G	A	2: 127,087,684 (GRCm39)	T217I	probably damaging	Het
Cldn1	A	T	16: 26,181,924 (GRCm39)	I95N	probably damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cluh	C	T	11: 74,558,772 (GRCm39)	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187 (GRCm39)	Q640L	probably benign	Het
Cspg4b	T	C	13: 113,456,503 (GRCm39)	S850P		Het
Cyp2c40	A	T	19: 39,766,443 (GRCm39)	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,674,672 (GRCm39)	M437L	probably benign	Het
D430041D05Rik	A	G	2: 104,087,189 (GRCm39)	S596P	probably benign	Het
Dagla	A	T	19: 10,233,053 (GRCm39)	V448D	probably damaging	Het
Ddx59	A	T	1: 136,344,594 (GRCm39)	E88D	probably benign	Het
Dock1	T	A	7: 134,384,141 (GRCm39)	F671I	possibly damaging	Het
Dtna	T	A	18: 23,764,454 (GRCm39)	V541D	probably damaging	Het
Eef2k	T	C	7: 120,491,170 (GRCm39)	F552S	probably damaging	Het
Erbb2	T	C	11: 98,311,746 (GRCm39)	V94A	possibly damaging	Het
Etl4	A	T	2: 20,771,345 (GRCm39)	I607F	possibly damaging	Het
Ets2	G	T	16: 95,516,121 (GRCm39)	E234*	probably null	Het
Fbp1	A	C	13: 63,019,023 (GRCm39)	V175G	probably damaging	Het
Fmn2	C	T	1: 174,436,194 (GRCm39)	Q722*	probably null	Het
Fnip1	G	T	11: 54,381,713 (GRCm39)	R288L	probably benign	Het
Ghr	G	A	15: 3,362,993 (GRCm39)	P160S	probably damaging	Het
Glipr1	A	G	10: 111,832,801 (GRCm39)	S46P	probably damaging	Het
Kif19b	A	T	5: 140,455,461 (GRCm39)	T356S	probably benign	Het
Kif9	G	A	9: 110,346,710 (GRCm39)	R616H	probably benign	Het
Krt87	G	T	15: 101,336,484 (GRCm39)	C56*	probably null	Het
Ldlr	A	G	9: 21,646,626 (GRCm39)	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,621,420 (GRCm39)	D998V	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mrc1	A	G	2: 14,324,110 (GRCm39)	N1149S	probably benign	Het
Myo1c	T	A	11: 75,559,899 (GRCm39)	V661E	probably benign	Het
N4bp2	T	C	5: 65,963,879 (GRCm39)	S643P	probably benign	Het
Nbl1	T	A	4: 138,812,608 (GRCm39)	T75S	probably benign	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nqo2	T	A	13: 34,156,361 (GRCm39)	V25E	possibly damaging	Het
Oma1	G	T	4: 103,210,726 (GRCm39)	V411L	possibly damaging	Het
Or12e13	T	G	2: 87,663,478 (GRCm39)	F32V	probably benign	Het
Or5v1	T	A	17: 37,810,331 (GRCm39)	I263N	probably damaging	Het
Or8b12i	A	G	9: 20,082,093 (GRCm39)	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427 (GRCm39)	H398Q	probably damaging	Het
Pepd	A	C	7: 34,743,218 (GRCm39)	D419A	probably benign	Het
Pikfyve	A	T	1: 65,303,561 (GRCm39)	S1694C	probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Plec	A	T	15: 76,065,213 (GRCm39)	L1619Q	unknown	Het
Polq	A	G	16: 36,843,173 (GRCm39)	I236V	probably benign	Het
Pphln1-ps1	A	G	16: 13,495,087 (GRCm39)	D62G	probably benign	Het
Prkag3	T	G	1: 74,786,378 (GRCm39)	Q189P	probably damaging	Het
Prkcg	A	T	7: 3,359,360 (GRCm39)	M136L	probably benign	Het
Ptprn2	T	C	12: 117,125,278 (GRCm39)	L604P	probably benign	Het
Rab6b	A	T	9: 103,017,601 (GRCm39)	T31S	probably benign	Het
Rnf213	A	G	11: 119,359,879 (GRCm39)	N4424S		Het
Ryr3	A	T	2: 112,491,966 (GRCm39)	L3795Q	probably damaging	Het
Scg2	A	G	1: 79,412,936 (GRCm39)	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,286,093 (GRCm39)	N416S	probably damaging	Het
Sik3	T	A	9: 46,120,117 (GRCm39)	H735Q	probably benign	Het
Slain1	A	C	14: 103,902,112 (GRCm39)	T60P		Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc46a2	A	T	4: 59,914,056 (GRCm39)	V289E	probably damaging	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spta1	A	G	1: 174,035,880 (GRCm39)	Y1062C	probably damaging	Het
Srrm3	A	G	5: 135,881,105 (GRCm39)	D135G	probably damaging	Het
Stat5b	T	A	11: 100,699,276 (GRCm39)	H25L	possibly damaging	Het
Synj2	A	G	17: 6,063,794 (GRCm39)	I513V	probably benign	Het
Syt11	T	A	3: 88,669,325 (GRCm39)	Q189L	probably benign	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Traf3ip2	T	A	10: 39,521,772 (GRCm39)	D443E	probably benign	Het
Traf6	G	T	2: 101,524,625 (GRCm39)	C235F	probably damaging	Het
Treh	A	G	9: 44,592,416 (GRCm39)	D47G	probably damaging	Het
Trpc4	C	A	3: 54,225,550 (GRCm39)	H966Q	probably benign	Het
Ttbk1	A	T	17: 46,784,516 (GRCm39)	D316E	possibly damaging	Het
Txndc16	A	T	14: 45,442,799 (GRCm39)	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,273,886 (GRCm39)		probably null	Het
Usp25	A	T	16: 76,874,046 (GRCm39)	I541F	probably damaging	Het
Xirp1	A	T	9: 119,847,274 (GRCm39)	D536E	possibly damaging	Het
Zfp51	A	G	17: 21,684,291 (GRCm39)	E302G	probably damaging	Het
Zfp648	A	T	1: 154,080,110 (GRCm39)	T90S	probably benign	Het
Zfp84	A	G	7: 29,476,264 (GRCm39)	T319A	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
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

Predicted Primers

PCR Primer
(F):5'- TAGTGCATCATGGGAGCTGG -3'
(R):5'- ATGGATCTGCTATTGCTCTGTC -3'

Sequencing Primer
(F):5'- GGAGCTGGAAAATAGACCTTTATAC -3'
(R):5'- GCTATTGCTCTGTCTCCCATTAAATG -3'

Posted On

2022-10-06