Incidental Mutation 'R2304:Sp8'
| ID |
244536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp8
|
| Ensembl Gene |
ENSMUSG00000048562 |
| Gene Name |
trans-acting transcription factor 8 |
| Synonyms |
mBtd, D930049B17Rik |
| MMRRC Submission |
040303-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
R2304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
118810064-118816311 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 118812304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 53
(S53I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063918]
[ENSMUST00000223305]
|
| AlphaFold |
Q8BMJ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063918
AA Change: S53I
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000065746
Gene: ENSMUSG00000048562
AA Change: S53I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
356 |
380 |
2.63e0 |
SMART |
|
ZnF_C2H2
|
386 |
410 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
7.9e-4 |
SMART |
|
low complexity region
|
439 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223305
AA Change: S53I
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| 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 is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutant fetuses are characterized by truncated limbs, the lack of a tail, and neural tube defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
A |
5: 8,142,366 (GRCm39) |
R806S |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,029 (GRCm39) |
K483R |
possibly damaging |
Het |
| Dcdc5 |
T |
A |
2: 106,166,488 (GRCm39) |
|
noncoding transcript |
Het |
| Dvl1 |
C |
T |
4: 155,940,041 (GRCm39) |
S391F |
probably damaging |
Het |
| Erg28 |
A |
G |
12: 85,862,937 (GRCm39) |
L125P |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm5449 |
G |
T |
13: 53,679,899 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
T |
C |
5: 143,373,595 (GRCm39) |
Y796H |
probably damaging |
Het |
| Mcrip1 |
A |
T |
11: 120,435,519 (GRCm39) |
F39I |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,502,238 (GRCm39) |
I158L |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,487,479 (GRCm39) |
N291D |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,499,879 (GRCm39) |
V1255D |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,989,551 (GRCm39) |
T1023A |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,838 (GRCm39) |
S188P |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,497,542 (GRCm39) |
E20G |
probably damaging |
Het |
| Slc13a5 |
A |
G |
11: 72,149,865 (GRCm39) |
V172A |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,023,630 (GRCm39) |
|
probably null |
Het |
| Trip11 |
A |
T |
12: 101,865,236 (GRCm39) |
F146I |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,550 (GRCm39) |
S99P |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,447,488 (GRCm39) |
I325V |
probably benign |
Het |
| Zfp786 |
A |
G |
6: 47,797,633 (GRCm39) |
L435P |
probably damaging |
Het |
|
| Other mutations in Sp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Sp8
|
APN |
12 |
118,812,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01783:Sp8
|
APN |
12 |
118,812,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02745:Sp8
|
APN |
12 |
118,813,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0506:Sp8
|
UTSW |
12 |
118,812,300 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0699:Sp8
|
UTSW |
12 |
118,812,555 (GRCm39) |
small deletion |
probably benign |
|
|
R1742:Sp8
|
UTSW |
12 |
118,813,552 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1771:Sp8
|
UTSW |
12 |
118,813,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Sp8
|
UTSW |
12 |
118,813,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Sp8
|
UTSW |
12 |
118,812,751 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1926:Sp8
|
UTSW |
12 |
118,812,964 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2159:Sp8
|
UTSW |
12 |
118,812,441 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2223:Sp8
|
UTSW |
12 |
118,813,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3777:Sp8
|
UTSW |
12 |
118,812,750 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3778:Sp8
|
UTSW |
12 |
118,812,750 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3779:Sp8
|
UTSW |
12 |
118,812,750 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4323:Sp8
|
UTSW |
12 |
118,812,171 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4360:Sp8
|
UTSW |
12 |
118,812,400 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4428:Sp8
|
UTSW |
12 |
118,812,938 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4883:Sp8
|
UTSW |
12 |
118,812,805 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4982:Sp8
|
UTSW |
12 |
118,812,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5053:Sp8
|
UTSW |
12 |
118,813,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Sp8
|
UTSW |
12 |
118,812,246 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5755:Sp8
|
UTSW |
12 |
118,812,822 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6219:Sp8
|
UTSW |
12 |
118,812,402 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7672:Sp8
|
UTSW |
12 |
118,813,070 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7793:Sp8
|
UTSW |
12 |
118,813,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8548:Sp8
|
UTSW |
12 |
118,812,910 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8990:Sp8
|
UTSW |
12 |
118,813,122 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9139:Sp8
|
UTSW |
12 |
118,812,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAACCGAGGTTGGGATCC -3'
(R):5'- ACACAGAGTAGTCGTTGGC -3'
Sequencing Primer
(F):5'- AGGTTGGGATCCACTCCTCTG -3'
(R):5'- TAGTCGTTGGCAAAGGGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation