Incidental Mutation 'R4335:Sp9'
| ID |
323724 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4335 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
73094809-73106115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73104633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 396
(V396M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090813]
|
| AlphaFold |
Q64HY3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090813
AA Change: V396M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088322
Gene: ENSMUSG00000068859
AA Change: V396M
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
| Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
| Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
| Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
| Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
| Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
| Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
| Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
| Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
| Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
| Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
| Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TGCACAGCTGTCACATCC -3'
(R):5'- ACCTCTAGGAGTCGTTGGGAC -3'
Sequencing Primer
(F):5'- TGTCACATCCCGGGCTGTG -3'
(R):5'- ACCGGTCGCAGCTTCCTTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation