Incidental Mutation 'R5041:Supt5'
| ID |
393211 |
| 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 |
042631-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5041 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28014316-28038171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28014805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1024
(L1024Q)
|
| 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: L1024Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: L1024Q
| 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: L1024Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207879
|
| Meta Mutation Damage Score |
0.6710 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,550,711 (GRCm39) |
F667S |
probably benign |
Het |
| Akna |
A |
G |
4: 63,305,381 (GRCm39) |
Y462H |
possibly damaging |
Het |
| Anxa11 |
G |
T |
14: 25,875,188 (GRCm39) |
E278* |
probably null |
Het |
| Ap3s2 |
T |
C |
7: 79,570,267 (GRCm39) |
Y20C |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,096,317 (GRCm38) |
|
probably null |
Het |
| AW551984 |
T |
C |
9: 39,511,894 (GRCm39) |
Y39C |
probably damaging |
Het |
| Becn1 |
A |
T |
11: 101,179,662 (GRCm39) |
S442T |
probably benign |
Het |
| Bhlhe40 |
C |
T |
6: 108,639,546 (GRCm39) |
T108I |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,432,593 (GRCm39) |
D252G |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,990 (GRCm39) |
S391P |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,892,746 (GRCm39) |
N814Y |
probably damaging |
Het |
| Ddx3y |
T |
A |
Y: 1,266,611 (GRCm39) |
Y282F |
probably benign |
Het |
| Ddx56 |
A |
G |
11: 6,214,178 (GRCm39) |
V357A |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,278,878 (GRCm39) |
C534W |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,636,097 (GRCm39) |
N621D |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,336,327 (GRCm39) |
I1624N |
possibly damaging |
Het |
| Htr7 |
A |
C |
19: 36,034,467 (GRCm39) |
W63G |
probably benign |
Het |
| Ly6g6c |
T |
A |
17: 35,284,428 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,290,839 (GRCm39) |
|
probably null |
Het |
| Mfrp |
A |
G |
9: 44,013,575 (GRCm39) |
D62G |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,478,085 (GRCm39) |
Y173C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,683 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,265 (GRCm39) |
C168* |
probably null |
Het |
| Or51h7 |
T |
C |
7: 102,591,785 (GRCm39) |
|
probably null |
Het |
| Pcf11 |
G |
A |
7: 92,307,613 (GRCm39) |
P852S |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,520,260 (GRCm39) |
V4A |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,327,071 (GRCm39) |
I63V |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,287,572 (GRCm39) |
F619L |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,087,880 (GRCm39) |
Q247L |
probably damaging |
Het |
| Spmap2l |
A |
G |
5: 77,203,928 (GRCm39) |
T319A |
probably benign |
Het |
| Spns3 |
G |
T |
11: 72,427,373 (GRCm39) |
Q306K |
possibly damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,941 (GRCm39) |
V188A |
possibly damaging |
Het |
| Tent4b |
CCCAACAACGCCAACAA |
CCCAACAA |
8: 88,981,878 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,237,836 (GRCm39) |
H3452Q |
probably benign |
Het |
| Usp28 |
A |
G |
9: 48,949,073 (GRCm39) |
Q864R |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,247,806 (GRCm39) |
T786A |
probably damaging |
Het |
| Yy1 |
TCACCACCACCACCACCACCACCACCACC |
TCACCACCACCACCACCACCACCACCACCACC |
12: 108,759,557 (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 |
|
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'- CCATCAATGCTCAGTAGGACCC -3'
(R):5'- AGACATGTGTACCCCTCTACC -3'
Sequencing Primer
(F):5'- TGCTCAGTAGGACCCCGGTAG -3'
(R):5'- TCACACATGCTAGGCTAGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation