Incidental Mutation 'R0604:Sp9'
ID |
55580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp9
|
Ensembl Gene |
ENSMUSG00000068859 |
Gene Name |
trans-acting transcription factor 9 |
Synonyms |
|
MMRRC Submission |
038793-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.689)
|
Stock # |
R0604 (G1)
|
Quality Score |
153 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
73094809-73106115 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73103982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 179
(S179T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090813]
|
AlphaFold |
Q64HY3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090813
AA Change: S179T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000088322 Gene: ENSMUSG00000068859 AA Change: S179T
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,775,451 (GRCm39) |
E302G |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adrb2 |
G |
A |
18: 62,311,586 (GRCm39) |
T413I |
possibly damaging |
Het |
Aqr |
T |
C |
2: 113,961,085 (GRCm39) |
K725R |
probably benign |
Het |
Braf |
A |
G |
6: 39,600,631 (GRCm39) |
I662T |
probably damaging |
Het |
Ccdc178 |
A |
G |
18: 22,200,500 (GRCm39) |
S435P |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,763,170 (GRCm39) |
M2332V |
possibly damaging |
Het |
Clgn |
T |
C |
8: 84,150,823 (GRCm39) |
V496A |
probably benign |
Het |
Dnah17 |
A |
C |
11: 118,012,297 (GRCm39) |
S193R |
probably benign |
Het |
Dntt |
A |
G |
19: 41,041,588 (GRCm39) |
E424G |
probably benign |
Het |
Fam149a |
A |
G |
8: 45,798,045 (GRCm39) |
L492P |
probably damaging |
Het |
Fetub |
T |
C |
16: 22,754,410 (GRCm39) |
Y126H |
possibly damaging |
Het |
Fgfr3 |
A |
T |
5: 33,890,126 (GRCm39) |
Y96F |
probably damaging |
Het |
Gm4952 |
A |
G |
19: 12,602,036 (GRCm39) |
E148G |
probably benign |
Het |
Gucy2g |
T |
A |
19: 55,191,519 (GRCm39) |
L977F |
probably benign |
Het |
Il1r1 |
T |
C |
1: 40,321,406 (GRCm39) |
V6A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,708,189 (GRCm39) |
Q832K |
probably benign |
Het |
Lats1 |
T |
A |
10: 7,588,425 (GRCm39) |
F1014Y |
probably damaging |
Het |
Mcc |
G |
A |
18: 44,606,823 (GRCm39) |
A536V |
probably damaging |
Het |
Mtrf1 |
T |
C |
14: 79,653,327 (GRCm39) |
V334A |
possibly damaging |
Het |
Or1j21 |
T |
A |
2: 36,684,119 (GRCm39) |
Y290* |
probably null |
Het |
Or2t46 |
T |
A |
11: 58,472,174 (GRCm39) |
M168K |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or4p18 |
T |
C |
2: 88,232,727 (GRCm39) |
T184A |
probably benign |
Het |
Pard6g |
A |
G |
18: 80,160,423 (GRCm39) |
S179G |
probably damaging |
Het |
Pierce1 |
C |
A |
2: 28,356,103 (GRCm39) |
R60L |
possibly damaging |
Het |
Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,290,997 (GRCm39) |
V402D |
probably damaging |
Het |
Rttn |
A |
G |
18: 88,995,882 (GRCm39) |
I222V |
probably damaging |
Het |
Tbc1d8 |
T |
A |
1: 39,444,407 (GRCm39) |
H184L |
probably damaging |
Het |
Vmn1r69 |
A |
G |
7: 10,314,581 (GRCm39) |
V50A |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,510,000 (GRCm39) |
F526L |
possibly damaging |
Het |
|
Other mutations in Sp9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03129:Sp9
|
APN |
2 |
73,103,865 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCGCCTTCAGCAGCGACTATG -3'
(R):5'- TTGCCGTACACCTTGCCACAGC -3'
Sequencing Primer
(F):5'- TTCTCCAACTcggcggc -3'
(R):5'- gctgcgcccgAAATCATAG -3'
|
Posted On |
2013-07-11 |