Incidental Mutation 'IGL01624:Sugt1'
| ID |
92632 |
| 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 # |
IGL01624
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
79825100-79868237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79834230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 77
(N77S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054908]
|
| AlphaFold |
Q9CX34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054908
AA Change: N77S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000052942
Gene: ENSMUSG00000022024
AA Change: N77S
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,341,205 (GRCm39) |
T18I |
probably damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,669 (GRCm39) |
T398A |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,542,163 (GRCm39) |
V853A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,791,066 (GRCm39) |
S2488P |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,432,814 (GRCm39) |
I578V |
probably benign |
Het |
| Atp2c2 |
A |
C |
8: 120,484,189 (GRCm39) |
R933S |
probably benign |
Het |
| Cyp26a1 |
A |
T |
19: 37,686,781 (GRCm39) |
I78F |
possibly damaging |
Het |
| Gck |
A |
G |
11: 5,853,106 (GRCm39) |
V338A |
possibly damaging |
Het |
| Ints6 |
A |
T |
14: 62,934,320 (GRCm39) |
M729K |
probably benign |
Het |
| Kank2 |
C |
A |
9: 21,691,676 (GRCm39) |
G500W |
probably damaging |
Het |
| Kansl1 |
G |
A |
11: 104,315,378 (GRCm39) |
T220I |
probably benign |
Het |
| Lgi4 |
T |
C |
7: 30,767,113 (GRCm39) |
L380P |
probably damaging |
Het |
| Lhx9 |
G |
T |
1: 138,760,521 (GRCm39) |
Y276* |
probably null |
Het |
| Lipm |
T |
A |
19: 34,098,545 (GRCm39) |
Y340N |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,533,392 (GRCm39) |
T134A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,964,153 (GRCm39) |
I1246F |
probably damaging |
Het |
| Or14j3 |
A |
T |
17: 37,900,816 (GRCm39) |
W143R |
probably benign |
Het |
| Or6c69c |
T |
A |
10: 129,910,519 (GRCm39) |
L80H |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,574 (GRCm39) |
V76A |
probably benign |
Het |
| Rbm44 |
T |
A |
1: 91,084,380 (GRCm39) |
N601K |
probably damaging |
Het |
| Rgs4 |
T |
A |
1: 169,572,047 (GRCm39) |
Y84F |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,269 (GRCm39) |
T131A |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Slitrk5 |
T |
A |
14: 111,918,526 (GRCm39) |
Y717N |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,076,203 (GRCm39) |
S770P |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,399 (GRCm39) |
W516R |
probably damaging |
Het |
| Sumf1 |
C |
T |
6: 108,130,162 (GRCm39) |
D186N |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,712,790 (GRCm39) |
L709S |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,138,812 (GRCm39) |
I163K |
probably benign |
Het |
| Upf2 |
A |
T |
2: 6,038,990 (GRCm39) |
E287D |
probably benign |
Het |
| Usp17lb |
A |
G |
7: 104,491,720 (GRCm39) |
|
probably benign |
Het |
| Vmn2r10 |
G |
A |
5: 109,154,112 (GRCm39) |
S64F |
possibly damaging |
Het |
|
| Other mutations in Sugt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02071:Sugt1
|
APN |
14 |
79,847,723 (GRCm39) |
nonsense |
probably null |
|
|
IGL02417:Sugt1
|
APN |
14 |
79,847,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03205:Sugt1
|
APN |
14 |
79,834,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation