Mutagenetix > Incidental Mutation

Incidental Mutation 'R0634:Sox9'

58164

Institutional Source

Beutler Lab

Gene Symbol

Sox9

Ensembl Gene

ENSMUSG00000000567

Gene Name

SRY (sex determining region Y)-box 9

Synonyms

2010306G03Rik

MMRRC Submission

038823-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112673050-112678586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112675768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 319 (Y319C)

Ref Sequence

ENSEMBL: ENSMUSP00000000579 (fasta)

Gene Model

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

AlphaFold

Q04887

Predicted Effect

probably damaging
Transcript: ENSMUST00000000579
AA Change: Y319C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000579
Gene: ENSMUSG00000000567
AA Change: Y319C

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

Meta Mutation Damage Score

0.5335

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (62/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,264,491 (GRCm39)	I2958V	possibly damaging	Het
Adam21	C	A	12: 81,607,126 (GRCm39)	W212L	probably benign	Het
Adcy2	A	C	13: 68,876,064 (GRCm39)	H479Q	possibly damaging	Het
Adcy4	T	C	14: 56,019,054 (GRCm39)	R168G	probably benign	Het
Adrm1b	C	T	3: 92,336,116 (GRCm39)	W125*	probably null	Het
Atp13a2	T	C	4: 140,734,240 (GRCm39)		probably benign	Het
C1ra	G	A	6: 124,494,464 (GRCm39)	E304K	possibly damaging	Het
Cc2d2a	A	C	5: 43,838,723 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,952,588 (GRCm39)	L1426P	probably damaging	Het
Cntn1	A	T	15: 92,212,444 (GRCm39)	R869*	probably null	Het
Creb3l2	A	T	6: 37,311,283 (GRCm39)		probably benign	Het
Crybg2	G	A	4: 133,802,615 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,276,405 (GRCm39)	F800I	probably damaging	Het
Dock6	G	A	9: 21,752,823 (GRCm39)	T330I	probably damaging	Het
Ets2	G	A	16: 95,517,200 (GRCm39)	E311K	possibly damaging	Het
Fbxo22	A	T	9: 55,122,244 (GRCm39)	Q141L	probably benign	Het
Fer	C	T	17: 64,342,503 (GRCm39)	T223M	probably benign	Het
Gtf3c1	A	T	7: 125,256,649 (GRCm39)		probably benign	Het
Gtf3c2	G	A	5: 31,317,150 (GRCm39)	R684*	probably null	Het
Hs6st3	T	A	14: 120,106,474 (GRCm39)	L294*	probably null	Het
Ighg2c	T	G	12: 113,251,584 (GRCm39)	E181A	unknown	Het
Igkv6-15	A	T	6: 70,383,763 (GRCm39)		probably benign	Het
Irag2	A	T	6: 145,120,354 (GRCm39)	H523L	probably damaging	Het
Map2k6	C	T	11: 110,385,169 (GRCm39)	R178*	probably null	Het
Meikin	T	A	11: 54,281,309 (GRCm39)	D126E	probably benign	Het
Mgst1	A	T	6: 138,133,329 (GRCm39)	T37S	probably damaging	Het
Mrc2	G	A	11: 105,238,518 (GRCm39)	V1222M	probably benign	Het
Myom2	C	A	8: 15,169,216 (GRCm39)		probably benign	Het
Negr1	A	G	3: 156,721,903 (GRCm39)	K159R	possibly damaging	Het
Nptx1	T	C	11: 119,434,127 (GRCm39)	T320A	possibly damaging	Het
Or12j3	A	T	7: 139,953,310 (GRCm39)	V71E	possibly damaging	Het
Or4p21	A	T	2: 88,276,961 (GRCm39)	M107K	probably benign	Het
Or5p66	T	C	7: 107,885,503 (GRCm39)	I277V	probably benign	Het
Pes1	C	T	11: 3,927,794 (GRCm39)		probably benign	Het
Pes1	T	G	11: 3,927,795 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,187,698 (GRCm39)	Y3537N	probably damaging	Het
Poteg	G	A	8: 27,963,615 (GRCm39)	G289R	probably benign	Het
Pramel29	A	G	4: 143,935,910 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,172,693 (GRCm39)	R59G	probably damaging	Het
Reln	A	T	5: 22,223,867 (GRCm39)	W961R	probably damaging	Het
Rhot2	G	A	17: 26,061,002 (GRCm39)	H168Y	possibly damaging	Het
Ripk3	G	T	14: 56,025,848 (GRCm39)		probably benign	Het
Samm50	A	G	15: 84,098,372 (GRCm39)		silent	Het
Sap30bp	T	C	11: 115,848,229 (GRCm39)	I117T	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Sipa1l2	A	T	8: 126,149,363 (GRCm39)	L1632*	probably null	Het
Sirt7	T	C	11: 120,512,955 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,976,934 (GRCm39)	T216A	possibly damaging	Het
Sspn	G	A	6: 145,906,877 (GRCm39)	A27T	possibly damaging	Het
Suco	A	G	1: 161,666,373 (GRCm39)	V509A	possibly damaging	Het
Svep1	C	T	4: 58,070,661 (GRCm39)	C2375Y	possibly damaging	Het
Trbv21	T	A	6: 41,179,984 (GRCm39)		probably benign	Het
Uimc1	C	T	13: 55,208,079 (GRCm39)	E455K	possibly damaging	Het
Upk3b	A	G	5: 136,068,930 (GRCm39)	T100A	possibly damaging	Het
Usp47	A	G	7: 111,707,862 (GRCm39)	N1303D	probably damaging	Het
Vav1	A	T	17: 57,610,862 (GRCm39)	D476V	probably benign	Het
Vmn1r68	A	G	7: 10,261,162 (GRCm39)	V312A	probably benign	Het
Wdr62	A	G	7: 29,969,599 (GRCm39)	V287A	probably damaging	Het
Zcchc4	C	T	5: 52,940,550 (GRCm39)	P40S	probably benign	Het
Zfp326	T	A	5: 106,034,069 (GRCm39)	Y26*	probably null	Het
Zfp592	A	G	7: 80,687,819 (GRCm39)	H915R	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
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
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'- GCTGGCAAAGTTGATCTGAAGCGAG -3'
(R):5'- TCAGCGTAGTCGTATTGCGAGC -3'

Sequencing Primer
(F):5'- TTGATCTGAAGCGAGAGGGG -3'
(R):5'- AGTGCTGCTGCTGCTCG -3'

Posted On

2013-07-11