Incidental Mutation 'IGL01077:Supt5'
| ID |
51460 |
| 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 # |
IGL01077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28014316-28038171 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 28023213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 323
(W323*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003527]
[ENSMUST00000207563]
[ENSMUST00000208243]
[ENSMUST00000209141]
|
| AlphaFold |
O55201 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003527
AA Change: W323*
|
| SMART Domains |
Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: W323*
| 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 |
probably benign
Transcript: ENSMUST00000208243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208726
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209141
AA Change: W323*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209105
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
T |
1: 58,096,569 (GRCm39) |
|
probably benign |
Het |
| Arhgap4 |
A |
G |
X: 72,943,699 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
G |
10: 50,525,413 (GRCm39) |
|
probably benign |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Car10 |
T |
C |
11: 93,487,969 (GRCm39) |
I222T |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,804,054 (GRCm39) |
V55M |
probably damaging |
Het |
| Chst4 |
T |
A |
8: 110,756,597 (GRCm39) |
Y422F |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,108,220 (GRCm39) |
E185G |
probably benign |
Het |
| Dtx2 |
T |
A |
5: 136,058,057 (GRCm39) |
M454K |
possibly damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
| Ganc |
C |
T |
2: 120,276,996 (GRCm39) |
T686M |
possibly damaging |
Het |
| Gm53 |
C |
T |
11: 96,142,594 (GRCm39) |
|
noncoding transcript |
Het |
| Gria3 |
T |
C |
X: 40,677,369 (GRCm39) |
V254A |
possibly damaging |
Het |
| H2-DMb2 |
G |
T |
17: 34,367,587 (GRCm39) |
A3S |
probably damaging |
Het |
| H2-DMb2 |
A |
G |
17: 34,366,694 (GRCm39) |
Y42C |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,051,023 (GRCm39) |
I184K |
probably damaging |
Het |
| Myzap |
T |
C |
9: 71,454,042 (GRCm39) |
E343G |
probably damaging |
Het |
| Nap1l2 |
T |
C |
X: 102,228,922 (GRCm39) |
D332G |
probably benign |
Het |
| Npr1 |
T |
G |
3: 90,365,669 (GRCm39) |
D628A |
probably damaging |
Het |
| Raet1e |
T |
C |
10: 22,057,219 (GRCm39) |
L181S |
probably damaging |
Het |
| Rnf43 |
G |
T |
11: 87,622,718 (GRCm39) |
M606I |
probably benign |
Het |
| Serpinb6b |
G |
A |
13: 33,162,049 (GRCm39) |
D283N |
possibly damaging |
Het |
| Slit2 |
A |
G |
5: 48,374,785 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
A |
4: 58,068,760 (GRCm39) |
I3009F |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tll1 |
T |
C |
8: 64,523,266 (GRCm39) |
Y482C |
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,970,035 (GRCm39) |
T985I |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,071,359 (GRCm39) |
K180R |
probably damaging |
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 |
|
IGL01477:Supt5
|
APN |
7 |
28,016,689 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
2013-06-21 |
Incidental Mutation