Incidental Mutation 'R7152:Supt5'
ID |
554198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Supt5
|
Ensembl Gene |
ENSMUSG00000003435 |
Gene Name |
suppressor of Ty 5, DSIF elongation factor subunit |
Synonyms |
Spt5, Supt5h |
MMRRC Submission |
045254-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7152 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28014316-28038171 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28023325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 318
(M318T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003527]
[ENSMUST00000207563]
[ENSMUST00000208243]
[ENSMUST00000209141]
|
AlphaFold |
O55201 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003527
AA Change: M318T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000003527 Gene: ENSMUSG00000003435 AA Change: M318T
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 |
probably benign
Transcript: ENSMUST00000208243
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209141
AA Change: M318T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Meta Mutation Damage Score |
0.0630 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btnl10 |
A |
G |
11: 58,813,223 (GRCm39) |
N284S |
probably benign |
Het |
Casz1 |
C |
G |
4: 148,985,748 (GRCm39) |
|
probably benign |
Het |
Cdkn2c |
A |
T |
4: 109,522,235 (GRCm39) |
F37I |
probably damaging |
Het |
Cdyl2 |
T |
C |
8: 117,351,066 (GRCm39) |
K22E |
probably damaging |
Het |
Cers1 |
T |
C |
8: 70,770,901 (GRCm39) |
W104R |
probably damaging |
Het |
Cgrrf1 |
T |
A |
14: 47,090,934 (GRCm39) |
Y223* |
probably null |
Het |
Cited2 |
C |
A |
10: 17,600,134 (GRCm39) |
N147K |
probably benign |
Het |
Clip2 |
A |
T |
5: 134,525,095 (GRCm39) |
L904Q |
probably damaging |
Het |
Cntln |
T |
C |
4: 84,802,937 (GRCm39) |
V79A |
possibly damaging |
Het |
Cntnap1 |
C |
T |
11: 101,068,152 (GRCm39) |
R55W |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,455,384 (GRCm39) |
F477L |
|
Het |
Ctnna2 |
T |
A |
6: 76,957,807 (GRCm39) |
T481S |
possibly damaging |
Het |
Ddx17 |
T |
C |
15: 79,414,464 (GRCm39) |
T570A |
possibly damaging |
Het |
Epha7 |
A |
G |
4: 28,935,826 (GRCm39) |
K483E |
possibly damaging |
Het |
Eps8l2 |
A |
T |
7: 140,935,678 (GRCm39) |
I150F |
possibly damaging |
Het |
Esyt1 |
A |
G |
10: 128,351,629 (GRCm39) |
S827P |
possibly damaging |
Het |
Fbxl13 |
T |
A |
5: 21,787,065 (GRCm39) |
I291F |
possibly damaging |
Het |
Foxd3 |
A |
C |
4: 99,545,562 (GRCm39) |
H234P |
probably benign |
Het |
Ggta1 |
T |
A |
2: 35,292,711 (GRCm39) |
M199L |
probably benign |
Het |
H3c13 |
A |
G |
3: 96,176,254 (GRCm39) |
D82G |
probably benign |
Het |
Ighv5-15 |
T |
C |
12: 113,790,317 (GRCm39) |
E101G |
probably benign |
Het |
Igkv8-18 |
T |
C |
6: 70,333,205 (GRCm39) |
L49P |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,371,368 (GRCm39) |
|
probably null |
Het |
Klhl36 |
C |
T |
8: 120,596,953 (GRCm39) |
T218M |
probably benign |
Het |
Ltn1 |
A |
G |
16: 87,224,529 (GRCm39) |
F65S |
probably damaging |
Het |
Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Ndst3 |
T |
A |
3: 123,346,305 (GRCm39) |
I642F |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,153,557 (GRCm39) |
D2456G |
probably damaging |
Het |
Nphp1 |
A |
G |
2: 127,595,899 (GRCm39) |
M522T |
probably benign |
Het |
Or51k1 |
T |
A |
7: 103,661,226 (GRCm39) |
M228L |
probably benign |
Het |
Or8k33 |
C |
T |
2: 86,383,673 (GRCm39) |
S265N |
probably benign |
Het |
Pam |
T |
A |
1: 97,813,465 (GRCm39) |
M322L |
probably damaging |
Het |
Pcdhgb1 |
C |
A |
18: 37,814,854 (GRCm39) |
H448Q |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,247,194 (GRCm39) |
|
probably null |
Het |
Pgm3 |
A |
T |
9: 86,449,593 (GRCm39) |
D142E |
probably benign |
Het |
Pomgnt2 |
C |
T |
9: 121,812,589 (GRCm39) |
G64D |
probably damaging |
Het |
Sds |
A |
T |
5: 120,619,716 (GRCm39) |
|
probably null |
Het |
Sirpb1b |
G |
T |
3: 15,607,230 (GRCm39) |
Q351K |
probably benign |
Het |
Slc2a12 |
T |
A |
10: 22,541,453 (GRCm39) |
M436K |
probably benign |
Het |
Slc9a5 |
G |
A |
8: 106,095,025 (GRCm39) |
G872D |
probably benign |
Het |
Stxbp2 |
T |
G |
8: 3,682,583 (GRCm39) |
S57R |
probably benign |
Het |
Sult2a6 |
T |
A |
7: 13,956,445 (GRCm39) |
D272V |
probably benign |
Het |
Tdpoz3 |
T |
C |
3: 93,733,772 (GRCm39) |
V149A |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,869,871 (GRCm39) |
S124T |
possibly damaging |
Het |
Tssc4 |
T |
A |
7: 142,624,139 (GRCm39) |
V149D |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
Vmn1r37 |
T |
C |
6: 66,708,883 (GRCm39) |
Y170H |
probably benign |
Het |
Vnn3 |
T |
A |
10: 23,727,513 (GRCm39) |
V11E |
possibly damaging |
Het |
Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,674,839 (GRCm39) |
V1963A |
possibly damaging |
Het |
Zfp324 |
C |
A |
7: 12,700,198 (GRCm39) |
A19E |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,325,888 (GRCm39) |
S784G |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTACCATCAAGCAAGAGCAGG -3'
(R):5'- TGGGAGTTGTAAGCAAGCCTG -3'
Sequencing Primer
(F):5'- TCTCCAGGTGCGCTCAC -3'
(R):5'- AGTTGTAAGCAAGCCTGTTTCTTC -3'
|
Posted On |
2019-05-15 |