Incidental Mutation 'R6032:Supt5'
| ID |
480450 |
| 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 |
044204-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28014316-28038171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28015600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 879
(Y879C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003527]
[ENSMUST00000081946]
[ENSMUST00000207563]
[ENSMUST00000209141]
|
| AlphaFold |
O55201 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003527
AA Change: Y879C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: Y879C
| 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 |
probably damaging
Transcript: ENSMUST00000209141
AA Change: Y879C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209105
|
| Meta Mutation Damage Score |
0.1651 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.0%
- 20x: 85.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2ml1 |
T |
A |
6: 128,526,799 (GRCm39) |
K1071* |
probably null |
Het |
| Abca13 |
G |
T |
11: 9,247,752 (GRCm39) |
V2500F |
possibly damaging |
Het |
| Adamdec1 |
T |
C |
14: 68,816,633 (GRCm39) |
E85G |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,264,970 (GRCm39) |
V199A |
probably benign |
Het |
| Aoc2 |
G |
A |
11: 101,216,627 (GRCm39) |
V237M |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,062,240 (GRCm39) |
R672H |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,045,513 (GRCm39) |
N886S |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Atp6v1a |
T |
C |
16: 43,927,303 (GRCm39) |
Y328C |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,267,521 (GRCm39) |
Y103C |
probably damaging |
Het |
| Crem |
C |
T |
18: 3,267,673 (GRCm39) |
R190Q |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,832,756 (GRCm39) |
S2000P |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,329,995 (GRCm39) |
T2629S |
probably benign |
Het |
| Cyp3a44 |
G |
T |
5: 145,714,756 (GRCm39) |
S465Y |
probably damaging |
Het |
| Daam2 |
A |
C |
17: 49,793,525 (GRCm39) |
F331V |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,205,443 (GRCm39) |
S146P |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
| Fam184b |
G |
A |
5: 45,740,238 (GRCm39) |
S316L |
probably benign |
Het |
| Fat2 |
G |
C |
11: 55,144,760 (GRCm39) |
T4038S |
probably damaging |
Het |
| Fbxl19 |
C |
T |
7: 127,360,437 (GRCm39) |
R439C |
probably damaging |
Het |
| Gm3454 |
T |
A |
15: 75,183,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch3 |
A |
G |
4: 133,305,617 (GRCm39) |
E284G |
probably benign |
Het |
| Grm1 |
A |
T |
10: 10,595,549 (GRCm39) |
I693N |
probably damaging |
Het |
| Gsdme |
T |
A |
6: 50,222,934 (GRCm39) |
Q127L |
probably damaging |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,937 (GRCm39) |
K458E |
probably benign |
Het |
| Kcns2 |
T |
C |
15: 34,839,080 (GRCm39) |
F148L |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,057,638 (GRCm39) |
T571A |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,469,254 (GRCm39) |
V108M |
probably damaging |
Het |
| Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,264,147 (GRCm39) |
D144E |
possibly damaging |
Het |
| Nos3 |
A |
T |
5: 24,584,809 (GRCm39) |
T738S |
probably benign |
Het |
| Nrxn2 |
A |
T |
19: 6,567,162 (GRCm39) |
T1353S |
probably damaging |
Het |
| Or2b7 |
G |
T |
13: 21,740,077 (GRCm39) |
S38R |
probably benign |
Het |
| Or4f4b |
T |
C |
2: 111,314,195 (GRCm39) |
L140P |
probably damaging |
Het |
| Or8g17 |
A |
G |
9: 38,930,261 (GRCm39) |
I192T |
probably benign |
Het |
| Pfpl |
A |
G |
19: 12,406,747 (GRCm39) |
T333A |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,284,137 (GRCm39) |
I565F |
possibly damaging |
Het |
| Ppef2 |
A |
G |
5: 92,378,383 (GRCm39) |
V604A |
probably benign |
Het |
| Pramel13 |
A |
C |
4: 144,119,598 (GRCm39) |
I323S |
possibly damaging |
Het |
| Rel |
A |
G |
11: 23,692,684 (GRCm39) |
S450P |
probably benign |
Het |
| Rpap2 |
A |
C |
5: 107,745,661 (GRCm39) |
D3A |
probably damaging |
Het |
| Shisa9 |
T |
C |
16: 11,802,772 (GRCm39) |
F110L |
possibly damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,385,784 (GRCm39) |
|
probably null |
Het |
| Slx4 |
A |
T |
16: 3,798,021 (GRCm39) |
F1454L |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,950,430 (GRCm39) |
V1198D |
possibly damaging |
Het |
| Tbx15 |
T |
C |
3: 99,259,833 (GRCm39) |
M568T |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,429,472 (GRCm39) |
H698R |
possibly damaging |
Het |
| Trappc9 |
T |
C |
15: 72,797,379 (GRCm39) |
N803D |
probably benign |
Het |
| Trim10 |
A |
T |
17: 37,182,606 (GRCm39) |
R157S |
possibly damaging |
Het |
| Wsb1 |
T |
C |
11: 79,131,025 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,365,874 (GRCm39) |
S178G |
probably benign |
Het |
| Zftraf1 |
C |
T |
15: 76,543,058 (GRCm39) |
R34Q |
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 |
|
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 |
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation