Mutagenetix > Incidental Mutation

Incidental Mutation 'R9037:Sox9'

687484

Institutional Source

Beutler Lab

Gene Symbol

Sox9

Ensembl Gene

ENSMUSG00000000567

Gene Name

SRY (sex determining region Y)-box 9

Synonyms

2010306G03Rik

MMRRC Submission

068969-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9037 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112673050-112678586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112675650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 280 (S280G)

Ref Sequence

ENSEMBL: ENSMUSP00000000579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000579]

AlphaFold

Q04887

Predicted Effect

probably damaging
Transcript: ENSMUST00000000579
AA Change: S280G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000579
Gene: ENSMUSG00000000567
AA Change: S280G

Domain	Start	End	E-Value	Type
Pfam:Sox_N	22	94	9.6e-29	PFAM
HMG	104	174	2.34e-27	SMART
low complexity region	186	196	N/A	INTRINSIC
low complexity region	234	241	N/A	INTRINSIC
low complexity region	339	377	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mutant heterozygotes and conditional knockout mutants display perinatal lethality with cleft palate, hypoplasia and distortion of numerous cartilage-derived skeletal structures, and premature mineralization in many bones. Specific conditional knockout mutations are sex-reversed. [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
Ablim3	T	A	18: 61,952,066 (GRCm39)	I432F	probably benign	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Adcy1	A	G	11: 7,087,325 (GRCm39)	T400A	possibly damaging	Het
Afap1l2	A	T	19: 56,918,403 (GRCm39)		probably benign	Het
Anapc4	C	A	5: 53,021,843 (GRCm39)	Q642K	probably benign	Het
Ano8	A	G	8: 71,937,088 (GRCm39)	F160S	probably damaging	Het
Apob	T	C	12: 8,066,501 (GRCm39)	V4490A	probably benign	Het
Bcar1	A	C	8: 112,447,522 (GRCm39)	F152V	probably benign	Het
Cacna2d2	A	G	9: 107,386,395 (GRCm39)	D174G	probably benign	Het
Capn11	T	C	17: 45,950,357 (GRCm39)	K328R	probably benign	Het
Colq	C	A	14: 31,279,744 (GRCm39)		probably benign	Het
Coro1a	A	C	7: 126,299,772 (GRCm39)	M350R	probably benign	Het
Ctbp1	T	A	5: 33,424,352 (GRCm39)	M24L	probably benign	Het
Cyp2c55	T	A	19: 39,030,537 (GRCm39)	F456L	probably damaging	Het
Dnah5	A	T	15: 28,248,104 (GRCm39)	K747M	probably benign	Het
Efcab3	A	G	11: 104,803,791 (GRCm39)	D3048G	unknown	Het
Esp36	C	T	17: 38,729,840 (GRCm39)	G60D	unknown	Het
Gast	A	G	11: 100,227,436 (GRCm39)	E43G	probably damaging	Het
Gm5849	T	G	3: 90,685,155 (GRCm39)	N10T	probably benign	Het
Gulp1	T	C	1: 44,793,524 (GRCm39)	S62P	probably benign	Het
Hectd1	T	C	12: 51,832,665 (GRCm39)	D903G	possibly damaging	Het
Hk2	T	A	6: 82,720,339 (GRCm39)	I201F	probably benign	Het
Ifna2	T	C	4: 88,601,664 (GRCm39)	D118G	probably benign	Het
Ift172	T	C	5: 31,420,400 (GRCm39)	K1079E	possibly damaging	Het
Igsf9	T	C	1: 172,312,081 (GRCm39)	V9A	probably benign	Het
Ints2	G	A	11: 86,106,530 (GRCm39)	T960I	probably benign	Het
Klk12	T	C	7: 43,419,139 (GRCm39)	W35R	probably damaging	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Macf1	T	C	4: 123,365,518 (GRCm39)	N3081S	probably benign	Het
Mal2	A	G	15: 54,434,939 (GRCm39)	N12S	unknown	Het
Mgat1	T	G	11: 49,152,256 (GRCm39)	N246K	probably damaging	Het
Mpeg1	T	A	19: 12,439,190 (GRCm39)	V216E	probably damaging	Het
Mpo	A	G	11: 87,688,557 (GRCm39)		probably benign	Het
Mtmr9	T	A	14: 63,761,532 (GRCm39)	T541S	possibly damaging	Het
Or4a73	C	T	2: 89,421,051 (GRCm39)	R136Q	probably benign	Het
Or51b6b	T	A	7: 103,310,382 (GRCm39)	H25L	probably benign	Het
Or5ak25	T	C	2: 85,269,139 (GRCm39)	D121G	possibly damaging	Het
Or8k3	G	T	2: 86,059,042 (GRCm39)	T91K	probably benign	Het
P2rx6	A	G	16: 17,388,307 (GRCm39)	T328A	possibly damaging	Het
Pcdhb12	A	C	18: 37,569,229 (GRCm39)	E125A	probably benign	Het
Pde3a	C	A	6: 141,416,832 (GRCm39)	Q569K	probably damaging	Het
Pepd	A	T	7: 34,720,398 (GRCm39)	Q227L	probably benign	Het
Piezo2	T	A	18: 63,225,902 (GRCm39)	E911D	probably benign	Het
Pnpla6	A	T	8: 3,592,379 (GRCm39)	R1241*	probably null	Het
Pold1	T	C	7: 44,188,339 (GRCm39)	D513G	probably damaging	Het
Polr1d	A	T	5: 147,015,490 (GRCm39)	I58L	probably benign	Het
Ppif	T	C	14: 25,694,828 (GRCm39)	L58P	probably damaging	Het
Preb	T	C	5: 31,116,590 (GRCm39)	K101R	probably benign	Het
Psma8	G	T	18: 14,854,251 (GRCm39)	V44L	probably benign	Het
Ptf1a	A	G	2: 19,451,036 (GRCm39)	Y122C	possibly damaging	Het
Ranbp6	T	C	19: 29,790,317 (GRCm39)	T12A	probably benign	Het
Rasal3	C	A	17: 32,614,094 (GRCm39)	R587L	probably benign	Het
Rnf146	T	C	10: 29,223,676 (GRCm39)	K70R	probably benign	Het
Serpinb6b	G	T	13: 33,161,998 (GRCm39)	E266*	probably null	Het
Slc15a2	A	T	16: 36,582,725 (GRCm39)	M252K	probably benign	Het
Slc2a1	T	C	4: 118,993,494 (GRCm39)	F444L	probably damaging	Het
Spata31e4	A	G	13: 50,856,944 (GRCm39)	K861E	probably benign	Het
Trappc8	A	G	18: 20,961,539 (GRCm39)	V1243A	probably benign	Het
Trpv2	A	T	11: 62,475,231 (GRCm39)	T215S	probably damaging	Het
Ttc39a	A	G	4: 109,299,981 (GRCm39)	E490G	probably damaging	Het
Ush2a	A	T	1: 187,995,487 (GRCm39)	D86V	possibly damaging	Het
Usp24	A	G	4: 106,236,251 (GRCm39)	T980A	probably damaging	Het
Vwa7	T	C	17: 35,236,268 (GRCm39)	V74A	probably benign	Het
Zan	A	G	5: 137,452,578 (GRCm39)	V1501A	unknown	Het
Zfp105	A	G	9: 122,758,836 (GRCm39)	E169G	possibly damaging	Het
Zfp788	C	T	7: 41,298,315 (GRCm39)	T317I	probably damaging	Het

Other mutations in Sox9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Sox9	APN	11	112,675,500 (GRCm39)	missense	probably benign	0.00
IGL02257:Sox9	APN	11	112,675,811 (GRCm39)	missense	possibly damaging	0.84
IGL02935:Sox9	APN	11	112,676,175 (GRCm39)	missense	probably damaging	0.99
R0350:Sox9	UTSW	11	112,675,702 (GRCm39)	missense	probably damaging	0.99
R0634:Sox9	UTSW	11	112,675,768 (GRCm39)	missense	probably damaging	0.98
R4273:Sox9	UTSW	11	112,675,980 (GRCm39)	missense	possibly damaging	0.60
R4692:Sox9	UTSW	11	112,673,803 (GRCm39)	missense	probably benign	0.01
R5328:Sox9	UTSW	11	112,673,484 (GRCm39)	missense	probably benign	0.39
R5501:Sox9	UTSW	11	112,674,685 (GRCm39)	missense	probably damaging	1.00
R5905:Sox9	UTSW	11	112,674,646 (GRCm39)	missense	probably damaging	1.00
R6707:Sox9	UTSW	11	112,673,698 (GRCm39)	missense	probably damaging	0.99
R6834:Sox9	UTSW	11	112,674,826 (GRCm39)	missense	probably benign	0.01
R7897:Sox9	UTSW	11	112,675,635 (GRCm39)	missense	probably benign	0.22
R9485:Sox9	UTSW	11	112,673,705 (GRCm39)	missense	probably benign	0.19
R9511:Sox9	UTSW	11	112,676,001 (GRCm39)	missense	possibly damaging	0.68
R9606:Sox9	UTSW	11	112,673,416 (GRCm39)	missense	probably damaging	0.99
Z1176:Sox9	UTSW	11	112,675,948 (GRCm39)	missense	possibly damaging	0.51
Z1177:Sox9	UTSW	11	112,675,629 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- CCTAAGAGTAGGGGCTTTGC -3'
(R):5'- TGCTGCTTCGACATCCACAC -3'

Sequencing Primer
(F):5'- ACCGTTTGTCTTTCTCTTTTATGG -3'
(R):5'- ATGCCGTAACTGCCAGT -3'

Posted On

2021-11-19