Incidental Mutation 'R4250:Sp7'
| ID |
321319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp7
|
| Ensembl Gene |
ENSMUSG00000060284 |
| Gene Name |
Sp7 transcription factor 7 |
| Synonyms |
Osx, osterix, 6430578P22Rik |
| MMRRC Submission |
041066-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102265038-102275498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102267327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 160
(T160S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078508]
[ENSMUST00000229464]
|
| AlphaFold |
Q8VI67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078508
AA Change: T178S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077596
Gene: ENSMUSG00000060284
AA Change: T178S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
288 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
291 |
315 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
321 |
345 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
1.1e-2 |
SMART |
|
low complexity region
|
374 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229464
AA Change: T160S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229977
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a reporter allele die within minutes of birth displaying cyanosis, respiratory distress, arrested osteoblast differentiation, and failure of endochondral and intramembranous bone formation. Mice homozygous for a knock-out allele exhibit failure of bone ossification. [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 |
|---|
| Bcl2a1d |
C |
T |
9: 88,613,706 (GRCm39) |
V23I |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,936 (GRCm39) |
L552M |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,021,890 (GRCm39) |
L319Q |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,564,726 (GRCm39) |
T296A |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,365,638 (GRCm39) |
I313L |
probably benign |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Ezr |
A |
T |
17: 7,022,196 (GRCm39) |
I94N |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,233,825 (GRCm39) |
I99S |
probably damaging |
Het |
| Hba-x |
T |
C |
11: 32,228,000 (GRCm39) |
Y155H |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,893,501 (GRCm39) |
V921D |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,949,035 (GRCm39) |
T796A |
probably damaging |
Het |
| Igkv8-26 |
G |
A |
6: 70,170,230 (GRCm39) |
V7I |
probably benign |
Het |
| Ikzf1 |
C |
T |
11: 11,704,166 (GRCm39) |
T194M |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,368 (GRCm39) |
M259V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,633,857 (GRCm39) |
Y38C |
probably damaging |
Het |
| Pilra |
A |
T |
5: 137,821,814 (GRCm39) |
S274T |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,077,869 (GRCm39) |
V27A |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,559,579 (GRCm39) |
V414A |
probably benign |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Sirt1 |
T |
A |
10: 63,172,877 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
G |
5: 31,195,062 (GRCm39) |
S512P |
probably benign |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,617 (GRCm39) |
I298V |
probably benign |
Het |
| Trmt9b |
C |
A |
8: 36,979,366 (GRCm39) |
T323K |
probably benign |
Het |
| Ttc4 |
G |
A |
4: 106,522,880 (GRCm39) |
T346I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,056 (GRCm39) |
T32977A |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 19,975,685 (GRCm39) |
K114E |
possibly damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,020 (GRCm39) |
V133A |
possibly damaging |
Het |
|
| Other mutations in Sp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00869:Sp7
|
APN |
15 |
102,267,086 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01412:Sp7
|
APN |
15 |
102,267,798 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02043:Sp7
|
APN |
15 |
102,267,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02341:Sp7
|
APN |
15 |
102,267,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0126:Sp7
|
UTSW |
15 |
102,266,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1898:Sp7
|
UTSW |
15 |
102,267,453 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4434:Sp7
|
UTSW |
15 |
102,267,536 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5472:Sp7
|
UTSW |
15 |
102,267,749 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5563:Sp7
|
UTSW |
15 |
102,267,755 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7532:Sp7
|
UTSW |
15 |
102,267,584 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7815:Sp7
|
UTSW |
15 |
102,274,822 (GRCm39) |
intron |
probably benign |
|
|
R7840:Sp7
|
UTSW |
15 |
102,267,533 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8493:Sp7
|
UTSW |
15 |
102,266,837 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8821:Sp7
|
UTSW |
15 |
102,267,227 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8962:Sp7
|
UTSW |
15 |
102,274,880 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTATTGCCAACCGCCTTG -3'
(R):5'- GGCTATGCAAATGACTACCCAC -3'
Sequencing Primer
(F):5'- GCCTTGGGCTTATAGACATCTTG -3'
(R):5'- TGGGCTCCTAGTGCCTAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation