Mutagenetix > Incidental Mutation

Incidental Mutation 'R4692:Sox9'

354985

Institutional Source

Beutler Lab

Gene Symbol

Sox9

Ensembl Gene

ENSMUSG00000000567

Gene Name

SRY (sex determining region Y)-box 9

Synonyms

2010306G03Rik

MMRRC Submission

041943-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4692 (G1)

Quality Score

119

Status

Not validated

Chromosome

Chromosomal Location

112673050-112678586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112673803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 131 (H131Q)

Ref Sequence

ENSEMBL: ENSMUSP00000000579 (fasta)

Gene Model

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

AlphaFold

Q04887

Predicted Effect

probably benign
Transcript: ENSMUST00000000579
AA Change: H131Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000000579
Gene: ENSMUSG00000000567
AA Change: H131Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137081

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,849,882 (GRCm39)	Y230*	probably null	Het
9230104M06Rik	A	T	12: 112,963,692 (GRCm39)		probably benign	Het
Arhgap20	A	G	9: 51,697,088 (GRCm39)	D53G	probably damaging	Het
Arl2	T	C	19: 6,187,776 (GRCm39)	T54A	probably damaging	Het
Baz2a	G	A	10: 127,960,762 (GRCm39)	G1521S	probably damaging	Het
Begain	A	G	12: 108,999,818 (GRCm39)	S523P	probably damaging	Het
Car10	T	C	11: 93,075,984 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,922,140 (GRCm39)	I66V	probably benign	Het
Col14a1	T	A	15: 55,286,864 (GRCm39)	V895E	unknown	Het
Coro1b	T	C	19: 4,199,418 (GRCm39)	Y26H	probably damaging	Het
Crebbp	T	C	16: 3,932,727 (GRCm39)	E1017G	possibly damaging	Het
Cwf19l2	T	C	9: 3,428,709 (GRCm39)	S232P	probably damaging	Het
Cyp7b1	T	A	3: 18,126,728 (GRCm39)	I473F	probably damaging	Het
Efcab5	A	T	11: 77,004,507 (GRCm39)	I937N	probably damaging	Het
Fam53c	A	C	18: 34,901,743 (GRCm39)	E220A	probably damaging	Het
Gsn	A	G	2: 35,188,883 (GRCm39)	Y434C	probably damaging	Het
Igkv2-137	T	C	6: 67,532,971 (GRCm39)	S45P	possibly damaging	Het
Katnip	T	C	7: 125,466,841 (GRCm39)		probably null	Het
Kif13b	C	A	14: 65,041,024 (GRCm39)	T1704K	probably benign	Het
Mapk7	A	G	11: 61,380,068 (GRCm39)	S697P	possibly damaging	Het
Mrgpra1	T	A	7: 46,985,446 (GRCm39)	I78F	probably damaging	Het
N6amt1	T	C	16: 87,153,854 (GRCm39)	V97A	possibly damaging	Het
Oas3	T	C	5: 120,907,420 (GRCm39)	T406A	probably benign	Het
Or4f61	A	G	2: 111,923,026 (GRCm39)	S7P	probably damaging	Het
Or8c17	C	T	9: 38,179,826 (GRCm39)	Q6*	probably null	Het
Paxip1	T	C	5: 27,977,095 (GRCm39)		probably benign	Het
Pfn4	A	T	12: 4,824,486 (GRCm39)	Y71F	probably damaging	Het
Plin4	C	A	17: 56,410,762 (GRCm39)	G1090C	probably damaging	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Rbl2	T	A	8: 91,849,047 (GRCm39)	D1084E	probably damaging	Het
Robo1	T	G	16: 72,757,090 (GRCm39)	S350R	probably damaging	Het
Sbno2	A	G	10: 79,922,161 (GRCm39)	V4A	possibly damaging	Het
Sh3rf1	T	C	8: 61,806,888 (GRCm39)		probably null	Het
Smgc	T	C	15: 91,738,764 (GRCm39)	V474A	possibly damaging	Het
Snx13	A	G	12: 35,136,917 (GRCm39)	D126G	possibly damaging	Het
Spag6	T	C	2: 18,704,054 (GRCm39)	I34T	probably benign	Het
Speer2	T	A	16: 69,654,860 (GRCm39)	T202S	possibly damaging	Het
Sspo	T	A	6: 48,459,621 (GRCm39)	C3327S	probably damaging	Het
Vcpip1	G	T	1: 9,818,299 (GRCm39)	A28E	unknown	Het
Vstm5	A	T	9: 15,168,718 (GRCm39)	D94V	probably damaging	Het
Zfp329	T	C	7: 12,544,559 (GRCm39)	K322E	probably damaging	Het
Zfp932	G	A	5: 110,157,052 (GRCm39)	G250D	probably damaging	Het
Zscan26	A	G	13: 21,629,427 (GRCm39)	C359R	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
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
R9037:Sox9	UTSW	11	112,675,650 (GRCm39)	missense	probably damaging	0.99
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'- TAAGTTCCCCGTGTGCATCC -3'
(R):5'- GAGCAATCCCAAGAACTTTCTC -3'

Sequencing Primer
(F):5'- CCGTGTGCATCCGCGAG -3'
(R):5'- TCCCAAGAACTTTCTCAAAATCTG -3'

Posted On

2015-10-21