Incidental Mutation 'IGL00334:Shox2'
| ID |
6883 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shox2
|
| Ensembl Gene |
ENSMUSG00000027833 |
| Gene Name |
SHOX homeobox 2 |
| Synonyms |
Og12x, Prx3, 6330543G17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
66879060-66889104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66888774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 39
(E39G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029422]
[ENSMUST00000046542]
[ENSMUST00000065047]
[ENSMUST00000065074]
[ENSMUST00000160504]
[ENSMUST00000161726]
[ENSMUST00000162036]
[ENSMUST00000195261]
[ENSMUST00000162362]
[ENSMUST00000162439]
[ENSMUST00000162693]
[ENSMUST00000162060]
|
| AlphaFold |
P70390 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029422
AA Change: E39G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029422
Gene: ENSMUSG00000027833
AA Change: E39G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
90 |
N/A |
INTRINSIC |
|
HOX
|
140 |
202 |
1.8e-28 |
SMART |
|
low complexity region
|
258 |
273 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
310 |
327 |
3.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046542
|
| SMART Domains |
Protein: ENSMUSP00000047077
Gene: ENSMUSG00000034544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
138 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065047
|
| SMART Domains |
Protein: ENSMUSP00000066967
Gene: ENSMUSG00000034544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
109 |
N/A |
INTRINSIC |
|
coiled coil region
|
122 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065074
|
| SMART Domains |
Protein: ENSMUSP00000066797
Gene: ENSMUSG00000034544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
180 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160504
|
| SMART Domains |
Protein: ENSMUSP00000124925
Gene: ENSMUSG00000034544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161726
|
| SMART Domains |
Protein: ENSMUSP00000124347
Gene: ENSMUSG00000034544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
180 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162036
|
| SMART Domains |
Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
180 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195261
|
| SMART Domains |
Protein: ENSMUSP00000141625
Gene: ENSMUSG00000027833
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
11 |
73 |
9e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162098
|
| SMART Domains |
Protein: ENSMUSP00000123838
Gene: ENSMUSG00000027833
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
|
HOX
|
61 |
123 |
1.8e-28 |
SMART |
|
low complexity region
|
167 |
182 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
219 |
236 |
1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162362
|
| SMART Domains |
Protein: ENSMUSP00000123699
Gene: ENSMUSG00000034544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162439
|
| SMART Domains |
Protein: ENSMUSP00000124924
Gene: ENSMUSG00000027833
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
11 |
73 |
1.8e-28 |
SMART |
|
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
167 |
187 |
9.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162693
|
| SMART Domains |
Protein: ENSMUSP00000125547
Gene: ENSMUSG00000034544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
157 |
N/A |
INTRINSIC |
|
coiled coil region
|
178 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162060
|
| SMART Domains |
Protein: ENSMUSP00000125031
Gene: ENSMUSG00000027833
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
11 |
73 |
1.8e-28 |
SMART |
|
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
167 |
187 |
9.7e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygous null mice display incomplete penetrance of embryonic lethality during organogenesis and incomplete clefting of the anterior part of the palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsb |
T |
G |
13: 94,075,787 (GRCm39) |
H423Q |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,160,400 (GRCm39) |
L620I |
possibly damaging |
Het |
| Ces1f |
T |
C |
8: 93,994,620 (GRCm39) |
T264A |
probably benign |
Het |
| Clcn6 |
C |
A |
4: 148,102,359 (GRCm39) |
|
probably null |
Het |
| Cyb5r3 |
C |
A |
15: 83,044,605 (GRCm39) |
A138S |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,834 (GRCm39) |
N197Y |
probably damaging |
Het |
| Dctn2 |
A |
G |
10: 127,113,559 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,821,566 (GRCm39) |
A1197T |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,595,488 (GRCm39) |
D436G |
probably damaging |
Het |
| Drd4 |
A |
G |
7: 140,872,096 (GRCm39) |
N49S |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,205,373 (GRCm39) |
V521D |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,800 (GRCm39) |
S714P |
probably damaging |
Het |
| Glis3 |
A |
G |
19: 28,517,664 (GRCm39) |
I178T |
probably damaging |
Het |
| Gm11565 |
T |
A |
11: 99,806,021 (GRCm39) |
C138S |
possibly damaging |
Het |
| H1f8 |
T |
A |
6: 115,924,588 (GRCm39) |
|
probably benign |
Het |
| Hdx |
T |
A |
X: 110,492,578 (GRCm39) |
I623F |
probably benign |
Het |
| Huwe1 |
T |
G |
X: 150,668,623 (GRCm39) |
L843V |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,447,604 (GRCm39) |
Y86H |
probably damaging |
Het |
| Irf7 |
A |
T |
7: 140,844,553 (GRCm39) |
S157T |
probably benign |
Het |
| Jmjd4 |
T |
A |
11: 59,346,140 (GRCm39) |
M331K |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,926 (GRCm39) |
D112E |
possibly damaging |
Het |
| Mamdc2 |
A |
C |
19: 23,356,138 (GRCm39) |
Y103* |
probably null |
Het |
| Map2k3 |
T |
C |
11: 60,834,041 (GRCm39) |
V77A |
possibly damaging |
Het |
| Mideas |
G |
A |
12: 84,219,629 (GRCm39) |
R442* |
probably null |
Het |
| Mprip |
T |
A |
11: 59,639,417 (GRCm39) |
D403E |
probably benign |
Het |
| Mutyh |
T |
A |
4: 116,676,516 (GRCm39) |
V496D |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,321,042 (GRCm39) |
V2051A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,367,262 (GRCm39) |
L2575P |
probably damaging |
Het |
| Or10j5 |
T |
G |
1: 172,785,158 (GRCm39) |
S265R |
possibly damaging |
Het |
| Or51a6 |
T |
C |
7: 102,604,311 (GRCm39) |
K173E |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,277 (GRCm39) |
I66N |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,780,098 (GRCm39) |
Y89H |
probably benign |
Het |
| Poglut3 |
T |
A |
9: 53,309,330 (GRCm39) |
|
probably benign |
Het |
| Poglut3 |
C |
A |
9: 53,309,328 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,540,034 (GRCm39) |
Q594* |
probably null |
Het |
| Ptpro |
T |
G |
6: 137,371,907 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
A |
G |
10: 84,615,917 (GRCm39) |
K28E |
possibly damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,449,930 (GRCm39) |
D122V |
probably benign |
Het |
| Smr3a |
A |
C |
5: 88,155,919 (GRCm39) |
|
probably benign |
Het |
| Spmip8 |
G |
A |
8: 96,039,676 (GRCm39) |
R31H |
probably damaging |
Het |
| Taf4 |
G |
T |
2: 179,618,418 (GRCm39) |
L8M |
unknown |
Het |
| Tbkbp1 |
T |
A |
11: 97,028,474 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
G |
T |
5: 123,253,230 (GRCm39) |
E210D |
probably damaging |
Het |
| Tmem120b |
A |
T |
5: 123,253,229 (GRCm39) |
|
probably null |
Het |
| Trim21 |
C |
T |
7: 102,208,805 (GRCm39) |
V305M |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,859,439 (GRCm39) |
L353Q |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,572 (GRCm39) |
N274K |
probably benign |
Het |
|
| Other mutations in Shox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00813:Shox2
|
APN |
3 |
66,882,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01534:Shox2
|
APN |
3 |
66,885,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01583:Shox2
|
APN |
3 |
66,881,104 (GRCm39) |
unclassified |
probably benign |
|
|
R0306:Shox2
|
UTSW |
3 |
66,881,167 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0374:Shox2
|
UTSW |
3 |
66,881,184 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0625:Shox2
|
UTSW |
3 |
66,888,877 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0774:Shox2
|
UTSW |
3 |
66,881,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Shox2
|
UTSW |
3 |
66,885,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1192:Shox2
|
UTSW |
3 |
66,881,243 (GRCm39) |
nonsense |
probably null |
|
|
R2354:Shox2
|
UTSW |
3 |
66,888,822 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2518:Shox2
|
UTSW |
3 |
66,885,692 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4163:Shox2
|
UTSW |
3 |
66,881,104 (GRCm39) |
unclassified |
probably benign |
|
|
R4976:Shox2
|
UTSW |
3 |
66,881,008 (GRCm39) |
unclassified |
probably benign |
|
|
R5423:Shox2
|
UTSW |
3 |
66,881,087 (GRCm39) |
unclassified |
probably benign |
|
|
R5493:Shox2
|
UTSW |
3 |
66,888,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Shox2
|
UTSW |
3 |
66,888,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF020:Shox2
|
UTSW |
3 |
66,881,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation