Incidental Mutation 'IGL03225:Sgtb'
| ID |
413766 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sgtb
|
| Ensembl Gene |
ENSMUSG00000042743 |
| Gene Name |
small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta |
| Synonyms |
C630001O05Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
IGL03225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
104246249-104278243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104268453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 163
(L163P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044385]
[ENSMUST00000159574]
[ENSMUST00000160322]
|
| AlphaFold |
Q8VD33 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044385
AA Change: L163P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743
AA Change: L163P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SGTA_dimer
|
3 |
64 |
2.4e-19 |
PFAM |
|
TPR
|
85 |
118 |
9.45e-6 |
SMART |
|
TPR
|
119 |
152 |
1.01e-5 |
SMART |
|
TPR
|
153 |
186 |
3.21e-8 |
SMART |
|
Blast:STI1
|
213 |
254 |
5e-9 |
BLAST |
|
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159574
AA Change: L120P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743
AA Change: L120P
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
42 |
75 |
9.45e-6 |
SMART |
|
TPR
|
76 |
109 |
1.01e-5 |
SMART |
|
TPR
|
110 |
143 |
3.21e-8 |
SMART |
|
Blast:STI1
|
170 |
207 |
5e-9 |
BLAST |
|
low complexity region
|
223 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160322
AA Change: L163P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125569
Gene: ENSMUSG00000042743
AA Change: L163P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GOF|B
|
5 |
54 |
4e-11 |
PDB |
|
Pfam:TPR_11
|
83 |
150 |
5e-23 |
PFAM |
|
Pfam:TPR_1
|
85 |
118 |
1e-8 |
PFAM |
|
Pfam:TPR_2
|
85 |
118 |
2.1e-8 |
PFAM |
|
Pfam:TPR_7
|
92 |
120 |
1.3e-4 |
PFAM |
|
Pfam:TPR_9
|
93 |
157 |
2.2e-5 |
PFAM |
|
Pfam:TPR_17
|
107 |
140 |
7.2e-8 |
PFAM |
|
Pfam:TPR_1
|
119 |
152 |
6.5e-9 |
PFAM |
|
Pfam:TPR_2
|
119 |
152 |
3.4e-5 |
PFAM |
|
Pfam:TPR_11
|
131 |
176 |
2.6e-8 |
PFAM |
|
Pfam:TPR_1
|
153 |
176 |
1.1e-4 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted(3) Gene trapped(4)
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
G |
7: 50,249,668 (GRCm39) |
K234R |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,043 (GRCm39) |
E573G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,286,386 (GRCm39) |
I673F |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,224,543 (GRCm39) |
I1431N |
probably damaging |
Het |
| Cask |
A |
G |
X: 13,531,760 (GRCm39) |
M103V |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,779,211 (GRCm39) |
Y283H |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,875,150 (GRCm39) |
E729G |
probably damaging |
Het |
| Gnb4 |
T |
C |
3: 32,641,881 (GRCm39) |
T249A |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,761 (GRCm39) |
S54P |
probably damaging |
Het |
| Krt20 |
A |
G |
11: 99,322,756 (GRCm39) |
V293A |
probably damaging |
Het |
| Lonrf1 |
A |
G |
8: 36,689,855 (GRCm39) |
V706A |
probably damaging |
Het |
| Lrrc58 |
T |
G |
16: 37,701,632 (GRCm39) |
C303W |
probably damaging |
Het |
| Mbnl2 |
A |
G |
14: 120,622,875 (GRCm39) |
T138A |
probably benign |
Het |
| Mss51 |
G |
A |
14: 20,537,205 (GRCm39) |
R88* |
probably null |
Het |
| Nup214 |
T |
A |
2: 31,924,423 (GRCm39) |
S146T |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,633 (GRCm39) |
R491H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
| Spsb3 |
T |
C |
17: 25,110,045 (GRCm39) |
I365T |
possibly damaging |
Het |
| Tmem273 |
A |
G |
14: 32,527,133 (GRCm39) |
I33M |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,902,781 (GRCm39) |
I227V |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,903,857 (GRCm39) |
T22A |
probably benign |
Het |
|
| Other mutations in Sgtb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02619:Sgtb
|
APN |
13 |
104,254,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0008:Sgtb
|
UTSW |
13 |
104,260,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Sgtb
|
UTSW |
13 |
104,265,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1556:Sgtb
|
UTSW |
13 |
104,276,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Sgtb
|
UTSW |
13 |
104,260,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6802:Sgtb
|
UTSW |
13 |
104,268,558 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6887:Sgtb
|
UTSW |
13 |
104,247,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7086:Sgtb
|
UTSW |
13 |
104,254,924 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8263:Sgtb
|
UTSW |
13 |
104,268,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8881:Sgtb
|
UTSW |
13 |
104,258,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9314:Sgtb
|
UTSW |
13 |
104,254,933 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9472:Sgtb
|
UTSW |
13 |
104,247,681 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0014:Sgtb
|
UTSW |
13 |
104,268,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0014:Sgtb
|
UTSW |
13 |
104,268,476 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Sgtb
|
UTSW |
13 |
104,268,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation