Incidental Mutation 'R5170:Supt5'
| ID |
397503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supt5
|
| Ensembl Gene |
ENSMUSG00000003435 |
| Gene Name |
suppressor of Ty 5 |
| Synonyms |
Supt5h, Spt5 |
| MMRRC Submission |
042750-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28314891-28338746 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28316083 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 910
(P910S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003527]
[ENSMUST00000081946]
[ENSMUST00000207563]
[ENSMUST00000209141]
|
| AlphaFold |
O55201 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003527
AA Change: P910S
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: P910S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
|
coiled coil region
|
36 |
63 |
N/A |
INTRINSIC |
|
Pfam:Spt5_N
|
73 |
170 |
8.1e-17 |
PFAM |
|
NGN
|
174 |
265 |
2.2e-14 |
SMART |
|
KOW
|
270 |
297 |
8.77e0 |
SMART |
|
KOW
|
417 |
444 |
8.69e-4 |
SMART |
|
KOW
|
469 |
496 |
9.1e-7 |
SMART |
|
KOW
|
591 |
618 |
2.46e-3 |
SMART |
|
low complexity region
|
677 |
695 |
N/A |
INTRINSIC |
|
KOW
|
697 |
724 |
3.93e-2 |
SMART |
|
CTD
|
766 |
902 |
2.09e-31 |
SMART |
|
KOW
|
1028 |
1055 |
9.69e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081946
|
| SMART Domains |
Protein: ENSMUSP00000080614
Gene: ENSMUSG00000003438
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
CPDc
|
146 |
274 |
1.33e-41 |
SMART |
|
low complexity region
|
313 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209141
AA Change: P910S
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,588,625 (GRCm38) |
I51V |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,803,197 (GRCm38) |
K559R |
probably benign |
Het |
| Arhgap30 |
A |
G |
1: 171,408,050 (GRCm38) |
D664G |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,213,650 (GRCm38) |
V798A |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,030,794 (GRCm38) |
C2237* |
probably null |
Het |
| C3 |
C |
T |
17: 57,223,938 (GRCm38) |
V388M |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,514,200 (GRCm38) |
E60K |
probably damaging |
Het |
| Cdh8 |
G |
A |
8: 99,279,550 (GRCm38) |
T135M |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 120,070,609 (GRCm38) |
A572E |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,741,791 (GRCm38) |
Y976C |
probably benign |
Het |
| Dmpk |
C |
G |
7: 19,088,019 (GRCm38) |
L301V |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,662,214 (GRCm38) |
I393V |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,857,694 (GRCm38) |
V305A |
probably benign |
Het |
| Fry |
G |
A |
5: 150,429,854 (GRCm38) |
V1779M |
probably benign |
Het |
| Gm15293 |
A |
T |
8: 21,201,680 (GRCm38) |
D26V |
probably damaging |
Het |
| Gtse1 |
T |
C |
15: 85,864,264 (GRCm38) |
|
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,235,570 (GRCm38) |
L328Q |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,730,498 (GRCm38) |
T225A |
unknown |
Het |
| Igkv4-80 |
A |
C |
6: 69,016,665 (GRCm38) |
S81A |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,887,344 (GRCm38) |
M1L |
probably benign |
Het |
| Lman1l |
G |
A |
9: 57,615,619 (GRCm38) |
R153* |
probably null |
Het |
| Myo16 |
A |
G |
8: 10,569,745 (GRCm38) |
D1432G |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,806,037 (GRCm38) |
N988I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,997,037 (GRCm38) |
A91S |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,857,279 (GRCm38) |
E773G |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,714,862 (GRCm38) |
M146K |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,123,178 (GRCm38) |
R209Q |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,400,808 (GRCm38) |
T340A |
probably damaging |
Het |
| St8sia1 |
T |
C |
6: 142,963,708 (GRCm38) |
K21E |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,794,674 (GRCm38) |
D581G |
probably benign |
Het |
| Sumo2 |
G |
A |
11: 115,534,660 (GRCm38) |
|
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,306,838 (GRCm38) |
Q158R |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 36,024,806 (GRCm38) |
H1968L |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 84,695,232 (GRCm38) |
Y220H |
probably damaging |
Het |
| Trp73 |
C |
T |
4: 154,104,838 (GRCm38) |
E60K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,787,069 (GRCm38) |
Y8026H |
probably damaging |
Het |
| Zar1l |
A |
G |
5: 150,517,585 (GRCm38) |
|
probably null |
Het |
| Zfp740 |
T |
C |
15: 102,209,205 (GRCm38) |
Y117H |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,812,957 (GRCm38) |
|
probably benign |
Het |
| Zp1 |
C |
A |
19: 10,920,554 (GRCm38) |
V8F |
possibly damaging |
Het |
|
| Other mutations in Supt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Supt5
|
APN |
7 |
28,315,382 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL01077:Supt5
|
APN |
7 |
28,323,788 (GRCm38) |
nonsense |
probably null |
|
|
IGL01477:Supt5
|
APN |
7 |
28,317,264 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01813:Supt5
|
APN |
7 |
28,323,975 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02405:Supt5
|
APN |
7 |
28,315,824 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02525:Supt5
|
APN |
7 |
28,318,947 (GRCm38) |
splice site |
probably benign |
|
|
IGL02584:Supt5
|
APN |
7 |
28,326,167 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL03387:Supt5
|
APN |
7 |
28,320,083 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0420:Supt5
|
UTSW |
7 |
28,317,329 (GRCm38) |
splice site |
probably benign |
|
|
R0715:Supt5
|
UTSW |
7 |
28,329,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1226:Supt5
|
UTSW |
7 |
28,328,747 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1655:Supt5
|
UTSW |
7 |
28,330,024 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1801:Supt5
|
UTSW |
7 |
28,317,214 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2424:Supt5
|
UTSW |
7 |
28,315,165 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R2883:Supt5
|
UTSW |
7 |
28,329,320 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R4280:Supt5
|
UTSW |
7 |
28,317,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4614:Supt5
|
UTSW |
7 |
28,325,972 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4792:Supt5
|
UTSW |
7 |
28,316,329 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4997:Supt5
|
UTSW |
7 |
28,316,037 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5041:Supt5
|
UTSW |
7 |
28,315,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5062:Supt5
|
UTSW |
7 |
28,329,015 (GRCm38) |
splice site |
probably null |
|
|
R5119:Supt5
|
UTSW |
7 |
28,316,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5687:Supt5
|
UTSW |
7 |
28,317,763 (GRCm38) |
missense |
probably benign |
0.27 |
|
R5720:Supt5
|
UTSW |
7 |
28,322,568 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5935:Supt5
|
UTSW |
7 |
28,329,475 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6032:Supt5
|
UTSW |
7 |
28,316,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6032:Supt5
|
UTSW |
7 |
28,316,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6049:Supt5
|
UTSW |
7 |
28,315,197 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7043:Supt5
|
UTSW |
7 |
28,320,010 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7085:Supt5
|
UTSW |
7 |
28,331,489 (GRCm38) |
missense |
unknown |
|
|
R7152:Supt5
|
UTSW |
7 |
28,323,900 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7201:Supt5
|
UTSW |
7 |
28,316,788 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7401:Supt5
|
UTSW |
7 |
28,323,772 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7959:Supt5
|
UTSW |
7 |
28,315,799 (GRCm38) |
missense |
probably benign |
0.43 |
|
R8181:Supt5
|
UTSW |
7 |
28,331,474 (GRCm38) |
missense |
unknown |
|
|
R8998:Supt5
|
UTSW |
7 |
28,338,423 (GRCm38) |
missense |
unknown |
|
|
R8999:Supt5
|
UTSW |
7 |
28,338,423 (GRCm38) |
missense |
unknown |
|
|
R9021:Supt5
|
UTSW |
7 |
28,317,246 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9314:Supt5
|
UTSW |
7 |
28,320,374 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9345:Supt5
|
UTSW |
7 |
28,316,987 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9477:Supt5
|
UTSW |
7 |
28,326,075 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9568:Supt5
|
UTSW |
7 |
28,315,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Supt5
|
UTSW |
7 |
28,317,031 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAACCTCCAGGAGAAGGTGC -3'
(R):5'- CAGCCATGTGAGTCCATCAG -3'
Sequencing Primer
(F):5'- GGTCATTGGACTGTAGCCAAC -3'
(R):5'- TGAGCCCGAAAAGCCCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation