Incidental Mutation 'IGL03205:Sugt1'
| ID |
413105 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sugt1
|
| Ensembl Gene |
ENSMUSG00000022024 |
| Gene Name |
SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) |
| Synonyms |
2410174K12Rik, SGT1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
79825100-79868237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79834241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 81
(A81T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054908]
|
| AlphaFold |
Q9CX34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054908
AA Change: A81T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052942
Gene: ENSMUSG00000022024
AA Change: A81T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
18 |
76 |
6.9e-14 |
PFAM |
|
Pfam:TPR_9
|
24 |
53 |
7.1e-3 |
PFAM |
|
Pfam:TPR_17
|
33 |
66 |
6.1e-7 |
PFAM |
|
Pfam:TPR_1
|
45 |
78 |
1.2e-7 |
PFAM |
|
Pfam:TPR_2
|
45 |
78 |
1.2e-6 |
PFAM |
|
Pfam:TPR_8
|
45 |
78 |
2.3e-4 |
PFAM |
|
Blast:TPR
|
80 |
112 |
1e-11 |
BLAST |
|
Pfam:CS
|
143 |
219 |
5.9e-24 |
PFAM |
|
Pfam:SGS
|
256 |
336 |
1.5e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228675
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved nuclear protein involved in kinetochore function and required for the G1/S and G2/M transitions. This protein interacts with heat shock protein 90. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene have been defined on several different chromosomes. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null embryos die prior to E8.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsph2 |
A |
T |
7: 13,290,301 (GRCm39) |
D120E |
probably damaging |
Het |
| Casp14 |
A |
G |
10: 78,549,173 (GRCm39) |
*258Q |
probably null |
Het |
| Ccdc54 |
A |
C |
16: 50,411,254 (GRCm39) |
F4C |
possibly damaging |
Het |
| Clcn4 |
C |
T |
7: 7,293,419 (GRCm39) |
V475M |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,124,194 (GRCm39) |
R1586H |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,761,873 (GRCm39) |
S453R |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,636,631 (GRCm39) |
K118E |
probably benign |
Het |
| Kif20b |
A |
T |
19: 34,936,863 (GRCm39) |
E154D |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,694,731 (GRCm39) |
V471I |
probably benign |
Het |
| Naa16 |
G |
A |
14: 79,593,952 (GRCm39) |
T371I |
possibly damaging |
Het |
| Naa20 |
A |
G |
2: 145,745,251 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or13a28 |
G |
A |
7: 140,218,073 (GRCm39) |
C153Y |
possibly damaging |
Het |
| Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
| Pmel |
A |
G |
10: 128,552,317 (GRCm39) |
T384A |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,462,487 (GRCm39) |
Y4863C |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,297,189 (GRCm39) |
V510I |
probably benign |
Het |
| Smad3 |
T |
A |
9: 63,575,148 (GRCm39) |
Y23F |
probably benign |
Het |
| Svs3b |
A |
T |
2: 164,098,181 (GRCm39) |
F47I |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,899,282 (GRCm39) |
D571G |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
C |
14: 53,797,485 (GRCm39) |
Y45H |
probably damaging |
Het |
| Zbtb5 |
A |
T |
4: 44,994,949 (GRCm39) |
M145K |
probably damaging |
Het |
|
| Other mutations in Sugt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01624:Sugt1
|
APN |
14 |
79,834,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02071:Sugt1
|
APN |
14 |
79,847,723 (GRCm39) |
nonsense |
probably null |
|
|
IGL02417:Sugt1
|
APN |
14 |
79,847,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0680:Sugt1
|
UTSW |
14 |
79,847,751 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1506:Sugt1
|
UTSW |
14 |
79,862,365 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1636:Sugt1
|
UTSW |
14 |
79,825,422 (GRCm39) |
missense |
probably benign |
|
|
R1863:Sugt1
|
UTSW |
14 |
79,846,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5253:Sugt1
|
UTSW |
14 |
79,840,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5870:Sugt1
|
UTSW |
14 |
79,846,451 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6370:Sugt1
|
UTSW |
14 |
79,847,774 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6657:Sugt1
|
UTSW |
14 |
79,844,701 (GRCm39) |
missense |
probably benign |
|
|
R6967:Sugt1
|
UTSW |
14 |
79,834,847 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7429:Sugt1
|
UTSW |
14 |
79,857,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7430:Sugt1
|
UTSW |
14 |
79,857,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9027:Sugt1
|
UTSW |
14 |
79,825,155 (GRCm39) |
start gained |
probably benign |
|
|
R9072:Sugt1
|
UTSW |
14 |
79,866,293 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9073:Sugt1
|
UTSW |
14 |
79,866,293 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9384:Sugt1
|
UTSW |
14 |
79,866,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation