Incidental Mutation 'R6049:Supt5'
| ID |
483445 |
| 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 |
044217-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6049 (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 28014622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1059
(I1059T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003527]
[ENSMUST00000081946]
[ENSMUST00000207563]
[ENSMUST00000209141]
|
| AlphaFold |
O55201 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003527
AA Change: I1059T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: I1059T
| 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 benign
Transcript: ENSMUST00000209141
AA Change: I1059T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209105
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
G |
A |
4: 103,088,520 (GRCm39) |
H229Y |
probably benign |
Het |
| Aadacl2fm2 |
A |
C |
3: 59,659,570 (GRCm39) |
D341A |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,439 (GRCm39) |
F500L |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,253,770 (GRCm39) |
L1190P |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,545,473 (GRCm39) |
V5604A |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,736,669 (GRCm39) |
T3072S |
possibly damaging |
Het |
| Arhgap39 |
A |
G |
15: 76,611,601 (GRCm39) |
|
probably null |
Het |
| C6 |
T |
C |
15: 4,764,654 (GRCm39) |
C117R |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,365,475 (GRCm39) |
E2206G |
probably damaging |
Het |
| Cd2bp2 |
A |
T |
7: 126,793,007 (GRCm39) |
F338L |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,803,490 (GRCm39) |
Q841L |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,997,470 (GRCm39) |
D575G |
probably damaging |
Het |
| Cplane2 |
T |
A |
4: 140,945,473 (GRCm39) |
V108D |
probably benign |
Het |
| Crat |
A |
G |
2: 30,293,553 (GRCm39) |
F63S |
probably damaging |
Het |
| Crybg3 |
T |
C |
16: 59,364,417 (GRCm39) |
T2402A |
probably benign |
Het |
| Ctsq |
A |
G |
13: 61,186,572 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,361,564 (GRCm39) |
R248G |
probably damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,899,961 (GRCm39) |
H420R |
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,472,552 (GRCm39) |
F587L |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,063,149 (GRCm39) |
K2651R |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,124,762 (GRCm39) |
I144V |
probably benign |
Het |
| Dnajc1 |
T |
C |
2: 18,236,511 (GRCm39) |
|
probably null |
Het |
| Fscb |
T |
C |
12: 64,521,094 (GRCm39) |
N124S |
possibly damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,787,641 (GRCm39) |
Y341H |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,731,395 (GRCm39) |
I1648F |
probably damaging |
Het |
| Hace1 |
A |
T |
10: 45,562,758 (GRCm39) |
N758Y |
probably damaging |
Het |
| Irs2 |
A |
C |
8: 11,056,805 (GRCm39) |
D542E |
probably benign |
Het |
| Kat6a |
T |
A |
8: 23,429,053 (GRCm39) |
H1469Q |
possibly damaging |
Het |
| Kif15 |
G |
A |
9: 122,840,687 (GRCm39) |
R36K |
probably damaging |
Het |
| Krt42 |
C |
T |
11: 100,157,886 (GRCm39) |
V193M |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,188,203 (GRCm39) |
E878V |
probably benign |
Het |
| Med18 |
G |
T |
4: 132,187,024 (GRCm39) |
D158E |
probably benign |
Het |
| Med6 |
T |
C |
12: 81,638,097 (GRCm39) |
N38S |
probably damaging |
Het |
| Mup13 |
T |
C |
4: 61,183,596 (GRCm39) |
T76A |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,448,640 (GRCm39) |
L281* |
probably null |
Het |
| Or5h23 |
A |
T |
16: 58,906,509 (GRCm39) |
C112* |
probably null |
Het |
| Or7g28 |
C |
A |
9: 19,272,640 (GRCm39) |
G4* |
probably null |
Het |
| Or9r3 |
A |
T |
10: 129,948,481 (GRCm39) |
H59Q |
probably benign |
Het |
| Pde4d |
A |
T |
13: 109,169,119 (GRCm39) |
R54* |
probably null |
Het |
| Pdpk1 |
A |
T |
17: 24,317,109 (GRCm39) |
Y251* |
probably null |
Het |
| Pdzk1 |
A |
G |
3: 96,758,979 (GRCm39) |
E128G |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,918,996 (GRCm39) |
|
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,884 (GRCm39) |
E63G |
possibly damaging |
Het |
| Prkcd |
T |
C |
14: 30,329,254 (GRCm39) |
E62G |
possibly damaging |
Het |
| Prl7b1 |
G |
T |
13: 27,790,161 (GRCm39) |
D77E |
probably benign |
Het |
| Rbck1 |
G |
T |
2: 152,165,094 (GRCm39) |
C85* |
probably null |
Het |
| Rfx3 |
A |
T |
19: 27,779,795 (GRCm39) |
M481K |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,983,906 (GRCm39) |
F159L |
probably damaging |
Het |
| Rpusd3 |
A |
C |
6: 113,394,802 (GRCm39) |
|
probably null |
Het |
| Ska1 |
T |
C |
18: 74,335,671 (GRCm39) |
T100A |
probably benign |
Het |
| Slc1a3 |
T |
C |
15: 8,675,177 (GRCm39) |
E276G |
probably damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,731,732 (GRCm39) |
Y361N |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 85,005,896 (GRCm39) |
L336S |
probably damaging |
Het |
| St7 |
A |
G |
6: 17,694,347 (GRCm39) |
D46G |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,297,926 (GRCm39) |
S1124T |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,260,185 (GRCm39) |
S54P |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tbc1d7 |
A |
C |
13: 43,312,836 (GRCm39) |
M19R |
probably damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,985,004 (GRCm39) |
N47D |
possibly damaging |
Het |
| Tgfbr3 |
C |
T |
5: 107,266,351 (GRCm39) |
A790T |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,740,324 (GRCm39) |
V1166A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,676,654 (GRCm39) |
|
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 |
|
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'- CTGACTCCTAGAGTATCAGGGAAG -3'
(R):5'- AACATCTGGAGCCCATCACG -3'
Sequencing Primer
(F):5'- GGAAATACAGAGTGATTGCCCTG -3'
(R):5'- GCCCACCAAGAACAACAAGGTAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation