Incidental Mutation 'IGL03129:Sp9'
| ID |
410252 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sp9
|
| Ensembl Gene |
ENSMUSG00000068859 |
| Gene Name |
trans-acting transcription factor 9 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.689)
|
| Stock # |
IGL03129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
73094809-73106115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73103865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 140
(T140A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090813]
|
| AlphaFold |
Q64HY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090813
AA Change: T140A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000088322
Gene: ENSMUSG00000068859
AA Change: T140A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
306 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
332 |
356 |
2.63e0 |
SMART |
|
ZnF_C2H2
|
362 |
386 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
5.99e-4 |
SMART |
|
low complexity region
|
416 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147133
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,238 (GRCm39) |
V403A |
probably damaging |
Het |
| Adpgk |
T |
C |
9: 59,221,088 (GRCm39) |
L298P |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,089 (GRCm39) |
D1501V |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,791,061 (GRCm39) |
Y2478* |
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,749,584 (GRCm39) |
Y417H |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,011,521 (GRCm39) |
F2511L |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,762,446 (GRCm39) |
M602V |
possibly damaging |
Het |
| Efna2 |
G |
A |
10: 80,024,346 (GRCm39) |
|
probably null |
Het |
| Fzd8 |
T |
C |
18: 9,214,270 (GRCm39) |
S451P |
probably damaging |
Het |
| Galntl6 |
A |
T |
8: 58,880,750 (GRCm39) |
D134E |
probably damaging |
Het |
| Grid2 |
T |
C |
6: 64,040,888 (GRCm39) |
S277P |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,277,716 (GRCm39) |
V91A |
possibly damaging |
Het |
| Lrp1b |
G |
A |
2: 41,202,478 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,866,696 (GRCm39) |
Y1015F |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,729,994 (GRCm39) |
C2779S |
possibly damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,524,118 (GRCm39) |
F454Y |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,684 (GRCm39) |
L213Q |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,087 (GRCm39) |
Y58F |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,248,043 (GRCm39) |
M486V |
probably benign |
Het |
| Plcg1 |
A |
C |
2: 160,616,446 (GRCm39) |
|
probably null |
Het |
| Polr1b |
G |
A |
2: 128,957,627 (GRCm39) |
V561I |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,626,770 (GRCm39) |
|
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,562,681 (GRCm39) |
K523* |
probably null |
Het |
| Prss3l |
T |
C |
6: 41,420,432 (GRCm39) |
N98S |
probably benign |
Het |
| Sema3b |
T |
A |
9: 107,476,995 (GRCm39) |
|
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,493,631 (GRCm39) |
R471G |
probably damaging |
Het |
|
| Other mutations in Sp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0604:Sp9
|
UTSW |
2 |
73,103,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0718:Sp9
|
UTSW |
2 |
73,104,171 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3423:Sp9
|
UTSW |
2 |
73,104,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3747:Sp9
|
UTSW |
2 |
73,104,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4335:Sp9
|
UTSW |
2 |
73,104,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Sp9
|
UTSW |
2 |
73,103,962 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4875:Sp9
|
UTSW |
2 |
73,103,962 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5341:Sp9
|
UTSW |
2 |
73,104,858 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5389:Sp9
|
UTSW |
2 |
73,104,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5891:Sp9
|
UTSW |
2 |
73,104,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6938:Sp9
|
UTSW |
2 |
73,103,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7092:Sp9
|
UTSW |
2 |
73,104,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7699:Sp9
|
UTSW |
2 |
73,103,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8336:Sp9
|
UTSW |
2 |
73,104,796 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8809:Sp9
|
UTSW |
2 |
73,104,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8900:Sp9
|
UTSW |
2 |
73,103,863 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9057:Sp9
|
UTSW |
2 |
73,103,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Sp9
|
UTSW |
2 |
73,103,839 (GRCm39) |
nonsense |
probably null |
|
|
R9335:Sp9
|
UTSW |
2 |
73,104,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9462:Sp9
|
UTSW |
2 |
73,104,243 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1088:Sp9
|
UTSW |
2 |
73,103,574 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Sp9
|
UTSW |
2 |
73,103,800 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation