Incidental Mutation 'R1192:Shox2'
| ID |
100864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shox2
|
| Ensembl Gene |
ENSMUSG00000027833 |
| Gene Name |
SHOX homeobox 2 |
| Synonyms |
Og12x, Prx3, 6330543G17Rik |
| MMRRC Submission |
039264-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1192 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
66879060-66889104 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 66881243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 246
(Q246*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029422]
[ENSMUST00000162060]
[ENSMUST00000162439]
[ENSMUST00000195261]
|
| AlphaFold |
P70390 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029422
AA Change: Q246*
|
| SMART Domains |
Protein: ENSMUSP00000029422
Gene: ENSMUSG00000027833
AA Change: Q246*
| 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: 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 |
|
| 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: 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: ENSMUST00000195261
|
| SMART Domains |
Protein: ENSMUSP00000141625
Gene: ENSMUSG00000027833
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
11 |
73 |
9e-31 |
SMART |
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (32/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
| Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
| Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
| Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
| Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
| Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
| Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
| Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
| Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
Het |
|
| Other mutations in Shox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Shox2
|
APN |
3 |
66,888,774 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCGCGATGCTGGAGTTCTTG -3'
(R):5'- TCACGTATTCACCCACGCAGTC -3'
Sequencing Primer
(F):5'- GGAGTTCTTGCTGGTGGTC -3'
(R):5'- GAAGGGACCACCTCATTCTTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation