Incidental Mutation 'R1226:Supt5'
ID |
152230 |
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 |
039295-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1226 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
28014316-28038171 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28028172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 44
(I44V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003527]
[ENSMUST00000207563]
[ENSMUST00000208243]
[ENSMUST00000209141]
|
AlphaFold |
O55201 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003527
AA Change: I192V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000003527 Gene: ENSMUSG00000003435 AA Change: I192V
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: ENSMUST00000207879
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208243
AA Change: I44V
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208367
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208726
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209141
AA Change: I192V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Abcd2 |
G |
T |
15: 91,075,246 (GRCm39) |
A189E |
probably benign |
Het |
Ahcy |
T |
C |
2: 154,906,817 (GRCm39) |
T159A |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,669,560 (GRCm39) |
V84A |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,832,748 (GRCm39) |
T1036M |
probably benign |
Het |
Ccdc187 |
G |
T |
2: 26,166,133 (GRCm39) |
S765R |
probably damaging |
Het |
Cfap210 |
A |
G |
2: 69,617,553 (GRCm39) |
M76T |
possibly damaging |
Het |
Chd1l |
G |
A |
3: 97,469,941 (GRCm39) |
R862* |
probably null |
Het |
Crmp1 |
A |
G |
5: 37,430,778 (GRCm39) |
D71G |
probably damaging |
Het |
Ctif |
CTGTGTCCGGTGT |
CTGT |
18: 75,654,650 (GRCm39) |
|
probably benign |
Het |
Ctsb |
A |
C |
14: 63,379,189 (GRCm39) |
Y267S |
probably damaging |
Het |
Cyp4a12b |
T |
A |
4: 115,290,164 (GRCm39) |
I239N |
possibly damaging |
Het |
Dna2 |
T |
C |
10: 62,796,203 (GRCm39) |
V544A |
possibly damaging |
Het |
Dnhd1 |
T |
A |
7: 105,346,106 (GRCm39) |
F2364Y |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,811,355 (GRCm39) |
E2558V |
probably damaging |
Het |
Gm10061 |
A |
C |
16: 88,948,169 (GRCm39) |
Y48S |
unknown |
Het |
Herc1 |
T |
A |
9: 66,323,545 (GRCm39) |
M1353K |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lin7a |
T |
C |
10: 107,107,780 (GRCm39) |
V20A |
probably benign |
Het |
Lsr |
T |
A |
7: 30,671,308 (GRCm39) |
I142F |
probably damaging |
Het |
Mei1 |
C |
T |
15: 81,964,285 (GRCm39) |
T275I |
possibly damaging |
Het |
Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
Mrpl32 |
A |
G |
13: 14,786,096 (GRCm39) |
I74T |
probably benign |
Het |
Nek11 |
C |
T |
9: 105,270,091 (GRCm39) |
V44I |
probably damaging |
Het |
Noa1 |
A |
G |
5: 77,455,402 (GRCm39) |
V438A |
possibly damaging |
Het |
Or5an1c |
A |
C |
19: 12,218,950 (GRCm39) |
I25R |
probably benign |
Het |
Or7g16 |
C |
T |
9: 18,727,266 (GRCm39) |
C108Y |
probably benign |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Pcdhb17 |
T |
C |
18: 37,620,313 (GRCm39) |
L701P |
probably damaging |
Het |
Pde11a |
G |
A |
2: 75,988,698 (GRCm39) |
S481L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,491,861 (GRCm39) |
I602T |
possibly damaging |
Het |
Ptprh |
T |
A |
7: 4,606,091 (GRCm39) |
R3* |
probably null |
Het |
Reln |
A |
G |
5: 22,115,864 (GRCm39) |
L3048P |
probably damaging |
Het |
Slc6a11 |
T |
A |
6: 114,171,624 (GRCm39) |
I265N |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,248,656 (GRCm39) |
S636P |
probably damaging |
Het |
Tdrd6 |
T |
A |
17: 43,937,523 (GRCm39) |
E1175V |
possibly damaging |
Het |
Tnxb |
A |
C |
17: 34,907,903 (GRCm39) |
T1316P |
probably damaging |
Het |
Ufc1 |
A |
C |
1: 171,116,810 (GRCm39) |
D119E |
probably benign |
Het |
Vmn1r220 |
A |
G |
13: 23,368,294 (GRCm39) |
F134S |
probably damaging |
Het |
Zfp106 |
A |
G |
2: 120,354,560 (GRCm39) |
S1404P |
probably damaging |
Het |
Zfp866 |
A |
G |
8: 70,218,940 (GRCm39) |
F227L |
probably damaging |
Het |
Zfyve28 |
A |
T |
5: 34,374,408 (GRCm39) |
H535Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCAGTTCCCATCATCAGTCAGC -3'
(R):5'- TCCCATACGGGGTCAAGACACATAG -3'
Sequencing Primer
(F):5'- TCAGGCAGTGGTCTTCGC -3'
(R):5'- CAACCTGTGGACTGTCAAGTG -3'
|
Posted On |
2014-01-29 |