Incidental Mutation 'R6887:Sgtb'
| ID |
537008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgtb
|
| Ensembl Gene |
ENSMUSG00000042743 |
| Gene Name |
small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta |
| Synonyms |
C630001O05Rik |
| MMRRC Submission |
044981-MU
|
| Accession Numbers |
NCBI RefSeq: NM_144838.1; MGI:2444615
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R6887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
104109741-104141735 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104111151 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 13
(W13R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044385]
[ENSMUST00000109315]
[ENSMUST00000159574]
[ENSMUST00000160322]
[ENSMUST00000224945]
|
| AlphaFold |
Q8VD33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044385
AA Change: M21T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743
AA Change: M21T
| 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 benign
Transcript: ENSMUST00000109315
|
| SMART Domains |
Protein: ENSMUSP00000104938
Gene: ENSMUSG00000021710
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M3
|
251 |
701 |
1.8e-158 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159574
AA Change: W13R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743
AA Change: W13R
| 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 benign
Transcript: ENSMUST00000160322
AA Change: M21T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125569
Gene: ENSMUSG00000042743
AA Change: M21T
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224945
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
All alleles(7) : Targeted(3) Gene trapped(4)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 79,092,483 (GRCm38) |
V543I |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,298,590 (GRCm38) |
I1104V |
possibly damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,542,733 (GRCm38) |
I681F |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,528,701 (GRCm38) |
M2004L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,659,768 (GRCm38) |
S785P |
possibly damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,723,698 (GRCm38) |
I242N |
probably damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,519,144 (GRCm38) |
L966P |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,738,451 (GRCm38) |
T547A |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,505,811 (GRCm38) |
F753S |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,078,653 (GRCm38) |
S252P |
possibly damaging |
Het |
| Cep63 |
A |
G |
9: 102,625,927 (GRCm38) |
|
probably benign |
Het |
| Chrna5 |
G |
T |
9: 55,005,133 (GRCm38) |
V302L |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,261,071 (GRCm38) |
T374A |
probably damaging |
Het |
| Dmtf1 |
T |
G |
5: 9,137,149 (GRCm38) |
D140A |
probably damaging |
Het |
| Exosc8 |
C |
T |
3: 54,733,699 (GRCm38) |
V39M |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,463,315 (GRCm38) |
S677A |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,563,389 (GRCm38) |
Y93H |
probably damaging |
Het |
| Hrc |
T |
C |
7: 45,335,664 (GRCm38) |
F80L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,189,820 (GRCm38) |
T139A |
possibly damaging |
Het |
| Kdr |
T |
G |
5: 75,968,451 (GRCm38) |
R178S |
probably benign |
Het |
| Lrrc61 |
A |
C |
6: 48,568,432 (GRCm38) |
N63T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,325,237 (GRCm38) |
A1219V |
possibly damaging |
Het |
| Neto1 |
T |
C |
18: 86,498,635 (GRCm38) |
V359A |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,281,836 (GRCm38) |
I364T |
probably benign |
Het |
| Nisch |
C |
T |
14: 31,185,344 (GRCm38) |
|
probably benign |
Het |
| Olfr1373 |
C |
A |
11: 52,145,352 (GRCm38) |
M59I |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,155,675 (GRCm38) |
D1333G |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,861,910 (GRCm38) |
V134F |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,852,231 (GRCm38) |
Y406C |
probably damaging |
Het |
| Robo4 |
G |
C |
9: 37,402,067 (GRCm38) |
E6Q |
possibly damaging |
Het |
| Scnn1g |
C |
A |
7: 121,760,444 (GRCm38) |
S383R |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,544,806 (GRCm38) |
|
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,151,811 (GRCm38) |
Q732* |
probably null |
Het |
| Tek |
T |
A |
4: 94,804,944 (GRCm38) |
C247S |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,176,838 (GRCm38) |
D91E |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,333,157 (GRCm38) |
L326P |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,690,827 (GRCm38) |
C770S |
probably damaging |
Het |
| Wdr31 |
C |
T |
4: 62,457,565 (GRCm38) |
G58R |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,266,449 (GRCm38) |
I54T |
probably damaging |
Het |
|
| Other mutations in Sgtb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02619:Sgtb
|
APN |
13 |
104,118,414 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03225:Sgtb
|
APN |
13 |
104,131,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
P0008:Sgtb
|
UTSW |
13 |
104,124,274 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0044:Sgtb
|
UTSW |
13 |
104,129,260 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1556:Sgtb
|
UTSW |
13 |
104,139,776 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2143:Sgtb
|
UTSW |
13 |
104,124,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6802:Sgtb
|
UTSW |
13 |
104,132,050 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7086:Sgtb
|
UTSW |
13 |
104,118,416 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8263:Sgtb
|
UTSW |
13 |
104,132,184 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8881:Sgtb
|
UTSW |
13 |
104,121,538 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9314:Sgtb
|
UTSW |
13 |
104,118,425 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9472:Sgtb
|
UTSW |
13 |
104,111,173 (GRCm38) |
missense |
probably benign |
0.09 |
|
X0014:Sgtb
|
UTSW |
13 |
104,131,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0014:Sgtb
|
UTSW |
13 |
104,131,968 (GRCm38) |
nonsense |
probably null |
|
|
Z1088:Sgtb
|
UTSW |
13 |
104,131,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTCTGGACCCTTTAAAGAGAG -3'
(R):5'- AGCCGTTCTGCTGCTTAAAC -3'
Sequencing Primer
(F):5'- TTCTGGACCCTTTAAAGAGAGAAAAG -3'
(R):5'- TGTTCCCATGATGAAAAACTTCCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation