Incidental Mutation 'R2406:Sgta'
ID |
248013 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgta
|
Ensembl Gene |
ENSMUSG00000004937 |
Gene Name |
small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha |
Synonyms |
5330427H01Rik, Sgt, D10Ertd190e |
MMRRC Submission |
040372-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2406 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
80879909-80896015 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80887081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 61
(I61M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151678
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005067]
[ENSMUST00000218208]
[ENSMUST00000219401]
[ENSMUST00000220317]
|
AlphaFold |
Q8BJU0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005067
AA Change: I61M
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000005067 Gene: ENSMUSG00000004937 AA Change: I61M
Domain | Start | End | E-Value | Type |
Pfam:SGTA_dimer
|
3 |
64 |
2.5e-23 |
PFAM |
TPR
|
92 |
125 |
1.49e-3 |
SMART |
TPR
|
126 |
159 |
1.27e-6 |
SMART |
TPR
|
160 |
193 |
1.06e-8 |
SMART |
Blast:STI1
|
218 |
264 |
5e-16 |
BLAST |
low complexity region
|
276 |
288 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218208
AA Change: I61M
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219297
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219401
AA Change: I61M
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220202
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220317
AA Change: I61M
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
Meta Mutation Damage Score |
0.1341 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
95% (42/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased neonatal death, subfertility, decreased body size, increased brain, intestine and heart weight, decreased serum insulin-like growth factor I level, large penis, and increased testis descent. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
A |
17: 35,879,352 (GRCm39) |
V230E |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,230,064 (GRCm39) |
|
probably benign |
Het |
AW554918 |
A |
G |
18: 25,473,344 (GRCm39) |
I180V |
possibly damaging |
Het |
C9 |
T |
C |
15: 6,512,780 (GRCm39) |
S301P |
possibly damaging |
Het |
Cdc42bpb |
T |
C |
12: 111,268,558 (GRCm39) |
Q1214R |
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,697,043 (GRCm39) |
I351T |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,741,723 (GRCm39) |
E1177G |
probably damaging |
Het |
Colgalt1 |
G |
A |
8: 72,070,312 (GRCm39) |
C198Y |
probably damaging |
Het |
Dennd4b |
C |
T |
3: 90,182,795 (GRCm39) |
R871C |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,611,457 (GRCm39) |
D433V |
probably benign |
Het |
Eif4ebp1 |
A |
G |
8: 27,763,362 (GRCm39) |
I52V |
probably damaging |
Het |
Fbxw5 |
T |
C |
2: 25,394,195 (GRCm39) |
I86T |
probably damaging |
Het |
Gm10650 |
A |
G |
3: 127,833,530 (GRCm39) |
|
noncoding transcript |
Het |
Helz |
G |
A |
11: 107,577,378 (GRCm39) |
A1910T |
unknown |
Het |
Hsf2 |
C |
T |
10: 57,373,642 (GRCm39) |
T70I |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,437,447 (GRCm39) |
|
probably benign |
Het |
Kdm2a |
T |
C |
19: 4,372,546 (GRCm39) |
D933G |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,429,346 (GRCm39) |
I832T |
probably damaging |
Het |
Mapk15 |
T |
C |
15: 75,870,697 (GRCm39) |
S512P |
possibly damaging |
Het |
Mybpc2 |
A |
T |
7: 44,171,149 (GRCm39) |
I134N |
possibly damaging |
Het |
Myh4 |
A |
G |
11: 67,150,000 (GRCm39) |
E1853G |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,897,279 (GRCm39) |
V690A |
probably damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or5b97 |
A |
G |
19: 12,878,991 (GRCm39) |
V51A |
probably benign |
Het |
Pacsin2 |
A |
T |
15: 83,269,313 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
A |
T |
18: 63,155,596 (GRCm39) |
L2416Q |
probably damaging |
Het |
Pip5k1c |
T |
A |
10: 81,144,858 (GRCm39) |
I233N |
probably damaging |
Het |
Ptcd3 |
T |
C |
6: 71,865,631 (GRCm39) |
D428G |
probably damaging |
Het |
Ptprf |
T |
C |
4: 118,126,501 (GRCm39) |
D84G |
possibly damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,120,359 (GRCm39) |
D798G |
probably benign |
Het |
Setd7 |
A |
G |
3: 51,450,097 (GRCm39) |
Y110H |
probably damaging |
Het |
Shank1 |
A |
G |
7: 44,006,376 (GRCm39) |
D2031G |
possibly damaging |
Het |
Skint5 |
A |
G |
4: 113,799,864 (GRCm39) |
Y88H |
probably damaging |
Het |
Spata31f1a |
A |
T |
4: 42,851,696 (GRCm39) |
D153E |
probably benign |
Het |
Stox1 |
T |
C |
10: 62,499,945 (GRCm39) |
I872V |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,674,025 (GRCm39) |
F385L |
probably benign |
Het |
Top3a |
A |
G |
11: 60,646,838 (GRCm39) |
F258L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,780,499 (GRCm39) |
Y1084C |
probably damaging |
Het |
Ubtf |
A |
T |
11: 102,199,528 (GRCm39) |
Y504* |
probably null |
Het |
Wdfy3 |
T |
C |
5: 102,036,125 (GRCm39) |
T2098A |
probably damaging |
Het |
Wnk2 |
G |
T |
13: 49,214,964 (GRCm39) |
T1194K |
possibly damaging |
Het |
Zbtb40 |
T |
A |
4: 136,725,879 (GRCm39) |
E560V |
probably benign |
Het |
|
Other mutations in Sgta |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02946:Sgta
|
APN |
10 |
80,885,612 (GRCm39) |
splice site |
probably benign |
|
R0194:Sgta
|
UTSW |
10 |
80,886,893 (GRCm39) |
missense |
probably benign |
0.00 |
R0595:Sgta
|
UTSW |
10 |
80,884,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R1742:Sgta
|
UTSW |
10 |
80,882,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R1858:Sgta
|
UTSW |
10 |
80,884,695 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2015:Sgta
|
UTSW |
10 |
80,887,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R5305:Sgta
|
UTSW |
10 |
80,882,081 (GRCm39) |
missense |
probably damaging |
0.99 |
R5724:Sgta
|
UTSW |
10 |
80,883,522 (GRCm39) |
splice site |
probably null |
|
R9746:Sgta
|
UTSW |
10 |
80,887,118 (GRCm39) |
missense |
possibly damaging |
0.52 |
Z1176:Sgta
|
UTSW |
10 |
80,882,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1177:Sgta
|
UTSW |
10 |
80,886,918 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTTGCACAGACCCCATG -3'
(R):5'- AGATGTCAGAGCTTCCTGTGG -3'
Sequencing Primer
(F):5'- CAGCTGAGTCCTCTTCAGAG -3'
(R):5'- CTTCCTGTGGGCTCCAGTGAG -3'
|
Posted On |
2014-11-11 |