Incidental Mutation 'IGL01477:Supt5'
| ID |
88499 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Supt5
|
| Ensembl Gene |
ENSMUSG00000003435 |
| Gene Name |
suppressor of Ty 5, DSIF elongation factor subunit |
| Synonyms |
Spt5, Supt5h |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01477
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28014316-28038171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28016689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 731
(H731R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003527]
[ENSMUST00000207563]
[ENSMUST00000209141]
|
| AlphaFold |
O55201 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003527
AA Change: H731R
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: H731R
| 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: ENSMUST00000207563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209105
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209141
AA Change: H731R
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
A |
G |
19: 45,967,043 (GRCm39) |
F33S |
probably damaging |
Het |
| Aven |
T |
C |
2: 112,460,277 (GRCm39) |
S132P |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,263,672 (GRCm39) |
T1233M |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,140 (GRCm39) |
E383G |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,352,985 (GRCm39) |
K432E |
possibly damaging |
Het |
| Elapor2 |
A |
T |
5: 9,487,756 (GRCm39) |
K547N |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,143,572 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
T |
C |
11: 101,667,954 (GRCm39) |
D74G |
possibly damaging |
Het |
| Glb1l |
A |
T |
1: 75,185,350 (GRCm39) |
I120N |
probably damaging |
Het |
| Grpel1 |
G |
A |
5: 36,627,986 (GRCm39) |
R89Q |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,451,635 (GRCm39) |
|
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,379,683 (GRCm39) |
H195R |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,643 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or8c17 |
T |
A |
9: 38,180,615 (GRCm39) |
S269T |
possibly damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,020,015 (GRCm39) |
K1346I |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,512,044 (GRCm39) |
V1421I |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,441 (GRCm39) |
D331G |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,345 (GRCm39) |
N856K |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,887,806 (GRCm39) |
D542G |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,635,154 (GRCm39) |
|
probably benign |
Het |
| Smarce1 |
C |
T |
11: 99,101,013 (GRCm39) |
G373E |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,368,541 (GRCm39) |
N697S |
probably damaging |
Het |
| Tmod2 |
T |
C |
9: 75,502,283 (GRCm39) |
H68R |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,691 (GRCm39) |
C354G |
probably damaging |
Het |
| Zfp277 |
A |
T |
12: 40,370,675 (GRCm39) |
Y425N |
probably benign |
Het |
|
| Other mutations in Supt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Supt5
|
APN |
7 |
28,014,807 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01077:Supt5
|
APN |
7 |
28,023,213 (GRCm39) |
nonsense |
probably null |
|
|
IGL01813:Supt5
|
APN |
7 |
28,023,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02405:Supt5
|
APN |
7 |
28,015,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02525:Supt5
|
APN |
7 |
28,018,372 (GRCm39) |
splice site |
probably benign |
|
|
IGL02584:Supt5
|
APN |
7 |
28,025,592 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03387:Supt5
|
APN |
7 |
28,019,508 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0420:Supt5
|
UTSW |
7 |
28,016,754 (GRCm39) |
splice site |
probably benign |
|
|
R0715:Supt5
|
UTSW |
7 |
28,028,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1226:Supt5
|
UTSW |
7 |
28,028,172 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1655:Supt5
|
UTSW |
7 |
28,029,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1801:Supt5
|
UTSW |
7 |
28,016,639 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2424:Supt5
|
UTSW |
7 |
28,014,590 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2883:Supt5
|
UTSW |
7 |
28,028,745 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4280:Supt5
|
UTSW |
7 |
28,016,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Supt5
|
UTSW |
7 |
28,025,397 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4792:Supt5
|
UTSW |
7 |
28,015,754 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4997:Supt5
|
UTSW |
7 |
28,015,462 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5041:Supt5
|
UTSW |
7 |
28,014,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Supt5
|
UTSW |
7 |
28,028,440 (GRCm39) |
splice site |
probably null |
|
|
R5119:Supt5
|
UTSW |
7 |
28,015,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5170:Supt5
|
UTSW |
7 |
28,015,508 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5687:Supt5
|
UTSW |
7 |
28,017,188 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5720:Supt5
|
UTSW |
7 |
28,021,993 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5935:Supt5
|
UTSW |
7 |
28,028,900 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6032:Supt5
|
UTSW |
7 |
28,015,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Supt5
|
UTSW |
7 |
28,015,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6049:Supt5
|
UTSW |
7 |
28,014,622 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7043:Supt5
|
UTSW |
7 |
28,019,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7085:Supt5
|
UTSW |
7 |
28,030,914 (GRCm39) |
missense |
unknown |
|
|
R7152:Supt5
|
UTSW |
7 |
28,023,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7201:Supt5
|
UTSW |
7 |
28,016,213 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7401:Supt5
|
UTSW |
7 |
28,023,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7959:Supt5
|
UTSW |
7 |
28,015,224 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8181:Supt5
|
UTSW |
7 |
28,030,899 (GRCm39) |
missense |
unknown |
|
|
R8998:Supt5
|
UTSW |
7 |
28,037,848 (GRCm39) |
missense |
unknown |
|
|
R8999:Supt5
|
UTSW |
7 |
28,037,848 (GRCm39) |
missense |
unknown |
|
|
R9021:Supt5
|
UTSW |
7 |
28,016,671 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9314:Supt5
|
UTSW |
7 |
28,019,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9345:Supt5
|
UTSW |
7 |
28,016,412 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9477:Supt5
|
UTSW |
7 |
28,025,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9568:Supt5
|
UTSW |
7 |
28,014,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Supt5
|
UTSW |
7 |
28,016,456 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2013-11-18 |
Incidental Mutation