Incidental Mutation 'IGL02257:Sox9'
ID |
286639 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sox9
|
Ensembl Gene |
ENSMUSG00000000567 |
Gene Name |
SRY (sex determining region Y)-box 9 |
Synonyms |
2010306G03Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02257
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
112673050-112678586 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 112675811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 333
(H333Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000579
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000579]
|
AlphaFold |
Q04887 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000579
AA Change: H333Q
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000000579 Gene: ENSMUSG00000000567 AA Change: H333Q
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 |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
C |
T |
11: 116,486,535 (GRCm39) |
Q25* |
probably null |
Het |
Adam8 |
A |
T |
7: 139,567,561 (GRCm39) |
V394D |
possibly damaging |
Het |
Ahnak2 |
A |
G |
12: 112,748,905 (GRCm39) |
F314S |
possibly damaging |
Het |
Arsg |
T |
C |
11: 109,412,473 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
T |
G |
4: 140,733,400 (GRCm39) |
V958G |
probably benign |
Het |
Ces5a |
T |
C |
8: 94,252,226 (GRCm39) |
D218G |
probably benign |
Het |
Cntnap4 |
T |
A |
8: 113,343,126 (GRCm39) |
L63Q |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,145,606 (GRCm39) |
T655A |
possibly damaging |
Het |
Ddc |
A |
T |
11: 11,823,171 (GRCm39) |
L133* |
probably null |
Het |
Fat4 |
C |
T |
3: 39,055,288 (GRCm39) |
A4169V |
probably benign |
Het |
Gnpat |
T |
C |
8: 125,613,587 (GRCm39) |
|
probably benign |
Het |
Gpd2 |
A |
G |
2: 57,254,536 (GRCm39) |
D678G |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,107,422 (GRCm39) |
D851G |
probably benign |
Het |
Hsd11b2 |
G |
A |
8: 106,249,854 (GRCm39) |
V322I |
probably benign |
Het |
Hsd17b3 |
G |
A |
13: 64,207,276 (GRCm39) |
T255M |
probably benign |
Het |
Hsp90b1 |
T |
C |
10: 86,534,453 (GRCm39) |
S284G |
probably damaging |
Het |
Med1 |
T |
A |
11: 98,071,096 (GRCm39) |
I69L |
probably damaging |
Het |
Mmut |
C |
T |
17: 41,249,625 (GRCm39) |
T200I |
possibly damaging |
Het |
Morn3 |
T |
G |
5: 123,175,788 (GRCm39) |
D200A |
probably damaging |
Het |
Mtss1 |
A |
G |
15: 58,828,394 (GRCm39) |
V173A |
probably damaging |
Het |
Myl6b |
T |
C |
10: 128,333,210 (GRCm39) |
|
probably benign |
Het |
Nin |
A |
G |
12: 70,149,465 (GRCm39) |
V48A |
possibly damaging |
Het |
Odr4 |
A |
T |
1: 150,262,155 (GRCm39) |
I95N |
probably damaging |
Het |
Or10w1 |
G |
A |
19: 13,632,629 (GRCm39) |
V279I |
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Phlpp2 |
T |
A |
8: 110,646,731 (GRCm39) |
V529E |
possibly damaging |
Het |
Pnlip |
G |
A |
19: 58,662,306 (GRCm39) |
V151I |
probably benign |
Het |
Pus7 |
A |
C |
5: 23,967,459 (GRCm39) |
H247Q |
probably damaging |
Het |
Setd6 |
T |
C |
8: 96,443,320 (GRCm39) |
Y188H |
probably damaging |
Het |
Siglecg |
T |
C |
7: 43,061,328 (GRCm39) |
S444P |
probably benign |
Het |
Specc1 |
T |
A |
11: 62,009,243 (GRCm39) |
I333N |
probably damaging |
Het |
Tmprss11e |
G |
A |
5: 86,872,039 (GRCm39) |
T59I |
probably damaging |
Het |
Vmn2r93 |
A |
C |
17: 18,545,770 (GRCm39) |
|
probably benign |
Het |
Vrk2 |
A |
T |
11: 26,484,266 (GRCm39) |
V163D |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |