Incidental Mutation 'R6988:Supt20'
| ID |
543063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supt20
|
| Ensembl Gene |
ENSMUSG00000027751 |
| Gene Name |
SPT20 SAGA complex component |
| Synonyms |
p38IP, Fam48a, p38 interacting protein, D3Ertd300e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R6988 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
54600228-54636187 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54606018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 35
(S35P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000170552]
[ENSMUST00000197502]
[ENSMUST00000199652]
[ENSMUST00000199655]
[ENSMUST00000199674]
[ENSMUST00000200439]
[ENSMUST00000200441]
|
| AlphaFold |
Q7TT00 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029315
|
| SMART Domains |
Protein: ENSMUSP00000029315
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
201 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170552
AA Change: S35P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131454
Gene: ENSMUSG00000027751
AA Change: S35P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spt20
|
63 |
229 |
6.8e-47 |
PFAM |
|
low complexity region
|
425 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197502
AA Change: S35P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
AA Change: S35P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
62 |
227 |
1.9e-43 |
PFAM |
|
low complexity region
|
424 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
680 |
N/A |
INTRINSIC |
|
coiled coil region
|
722 |
751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199652
AA Change: S35P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142648
Gene: ENSMUSG00000027751
AA Change: S35P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
181 |
1.2e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199655
AA Change: S35P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143520
Gene: ENSMUSG00000027751
AA Change: S35P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
62 |
140 |
5.3e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199674
AA Change: S35P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
AA Change: S35P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
227 |
3.3e-39 |
PFAM |
|
low complexity region
|
424 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200439
AA Change: S35P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
AA Change: S35P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
227 |
2.7e-42 |
PFAM |
|
low complexity region
|
424 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
525 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200441
|
| SMART Domains |
Protein: ENSMUSP00000143231
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
171 |
N/A |
INTRINSIC |
|
coiled coil region
|
213 |
242 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: The incompletely penetrant homozygous phenotype of a splice-site mutation may include retinal epithelium expansion over the dorsal half of the eye, exencephaly, spina bifida, gastrulation defects and/or aberrant somite and mesoderm development. A few mutants survive postnatally and appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
G |
4: 137,181,890 (GRCm39) |
L15W |
probably damaging |
Het |
| 4930550C14Rik |
G |
A |
9: 53,323,056 (GRCm39) |
V31I |
possibly damaging |
Het |
| Aadacl4fm4 |
A |
G |
4: 144,412,895 (GRCm39) |
F15S |
probably benign |
Het |
| Adgre1 |
C |
T |
17: 57,715,445 (GRCm39) |
S255F |
probably benign |
Het |
| Aff4 |
T |
G |
11: 53,289,064 (GRCm39) |
S404R |
probably damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,283,757 (GRCm39) |
|
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 97,014,757 (GRCm39) |
I1342K |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,908 (GRCm39) |
D626E |
possibly damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,616,348 (GRCm39) |
V332I |
probably benign |
Het |
| AY358078 |
A |
G |
14: 52,063,644 (GRCm39) |
E430G |
probably damaging |
Het |
| B4gat1 |
T |
A |
19: 5,090,462 (GRCm39) |
I395N |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,467,311 (GRCm39) |
I878N |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,394,868 (GRCm39) |
Q745* |
probably null |
Het |
| Ccl19 |
A |
T |
4: 42,754,885 (GRCm39) |
I87N |
probably damaging |
Het |
| Ces2g |
G |
C |
8: 105,690,540 (GRCm39) |
G107A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,324,268 (GRCm39) |
V180A |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,902,335 (GRCm39) |
T14A |
unknown |
Het |
| Dnah7a |
T |
C |
1: 53,621,784 (GRCm39) |
I1114V |
possibly damaging |
Het |
| Dnah7c |
T |
C |
1: 46,705,373 (GRCm39) |
I2462T |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,862,249 (GRCm39) |
F208S |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,417 (GRCm39) |
E3993G |
probably damaging |
Het |
| Erv3 |
C |
T |
2: 131,697,886 (GRCm39) |
D158N |
possibly damaging |
Het |
| Exoc6 |
T |
A |
19: 37,597,539 (GRCm39) |
F647I |
probably damaging |
Het |
| Fbrs |
G |
A |
7: 127,078,680 (GRCm39) |
|
probably benign |
Het |
| Fgfr1op2 |
T |
C |
6: 146,491,463 (GRCm39) |
F109L |
probably damaging |
Het |
| Fv1 |
T |
C |
4: 147,953,728 (GRCm39) |
F98S |
possibly damaging |
Het |
| H2-M10.1 |
T |
C |
17: 36,636,484 (GRCm39) |
K107E |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,256,201 (GRCm39) |
Q1436L |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,383 (GRCm39) |
Y79C |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,881 (GRCm39) |
V102I |
probably benign |
Het |
| Mnt |
C |
A |
11: 74,733,635 (GRCm39) |
|
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,852,883 (GRCm39) |
T112A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,982 (GRCm39) |
D506G |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,263,806 (GRCm39) |
R81* |
probably null |
Het |
| Or6c2 |
T |
A |
10: 129,362,542 (GRCm39) |
S149T |
probably benign |
Het |
| Or6c217 |
G |
C |
10: 129,738,278 (GRCm39) |
F100L |
probably damaging |
Het |
| Pole |
G |
T |
5: 110,477,449 (GRCm39) |
V1863F |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 144,000,577 (GRCm39) |
|
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,825,363 (GRCm39) |
K636E |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,033,754 (GRCm39) |
Y1151F |
probably benign |
Het |
| Rrad |
A |
G |
8: 105,357,268 (GRCm39) |
V93A |
probably damaging |
Het |
| Sesn3 |
A |
T |
9: 14,221,553 (GRCm39) |
R118* |
probably null |
Het |
| Slc27a3 |
T |
C |
3: 90,293,597 (GRCm39) |
N596S |
probably benign |
Het |
| Snx19 |
C |
A |
9: 30,340,231 (GRCm39) |
D456E |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,127,733 (GRCm39) |
D1759G |
possibly damaging |
Het |
| Syde2 |
G |
T |
3: 145,725,564 (GRCm39) |
R885L |
probably benign |
Het |
| Synm |
G |
A |
7: 67,383,406 (GRCm39) |
L1419F |
probably damaging |
Het |
| Tekt2 |
A |
G |
4: 126,217,236 (GRCm39) |
F221L |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,586,941 (GRCm39) |
I90T |
possibly damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trib2 |
A |
G |
12: 15,865,339 (GRCm39) |
S79P |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,900,969 (GRCm39) |
M1084V |
probably benign |
Het |
| Vmn1r181 |
T |
C |
7: 23,684,272 (GRCm39) |
F246L |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,510 (GRCm39) |
D2G |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,080,716 (GRCm39) |
E1357G |
probably benign |
Het |
| Zhx3 |
A |
G |
2: 160,621,788 (GRCm39) |
M793T |
probably benign |
Het |
|
| Other mutations in Supt20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Supt20
|
APN |
3 |
54,622,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01781:Supt20
|
APN |
3 |
54,602,626 (GRCm39) |
start codon destroyed |
probably null |
0.47 |
|
IGL02510:Supt20
|
APN |
3 |
54,622,945 (GRCm39) |
intron |
probably benign |
|
|
IGL02656:Supt20
|
APN |
3 |
54,615,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02958:Supt20
|
APN |
3 |
54,621,144 (GRCm39) |
intron |
probably benign |
|
|
IGL03036:Supt20
|
APN |
3 |
54,616,723 (GRCm39) |
nonsense |
probably null |
|
|
IGL03128:Supt20
|
APN |
3 |
54,615,708 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03164:Supt20
|
APN |
3 |
54,620,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4304:Supt20
|
UTSW |
3 |
54,635,085 (GRCm39) |
nonsense |
probably null |
|
|
FR4304:Supt20
|
UTSW |
3 |
54,635,068 (GRCm39) |
small insertion |
probably benign |
|
|
FR4304:Supt20
|
UTSW |
3 |
54,635,083 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Supt20
|
UTSW |
3 |
54,635,070 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Supt20
|
UTSW |
3 |
54,635,094 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Supt20
|
UTSW |
3 |
54,635,078 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Supt20
|
UTSW |
3 |
54,635,085 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Supt20
|
UTSW |
3 |
54,635,092 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Supt20
|
UTSW |
3 |
54,635,072 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Supt20
|
UTSW |
3 |
54,635,076 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Supt20
|
UTSW |
3 |
54,635,082 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Supt20
|
UTSW |
3 |
54,635,078 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Supt20
|
UTSW |
3 |
54,635,079 (GRCm39) |
small insertion |
probably benign |
|
|
R0383:Supt20
|
UTSW |
3 |
54,610,570 (GRCm39) |
nonsense |
probably null |
|
|
R0675:Supt20
|
UTSW |
3 |
54,614,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Supt20
|
UTSW |
3 |
54,622,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0968:Supt20
|
UTSW |
3 |
54,615,821 (GRCm39) |
intron |
probably benign |
|
|
R1075:Supt20
|
UTSW |
3 |
54,614,362 (GRCm39) |
nonsense |
probably null |
|
|
R1689:Supt20
|
UTSW |
3 |
54,619,583 (GRCm39) |
nonsense |
probably null |
|
|
R1772:Supt20
|
UTSW |
3 |
54,617,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Supt20
|
UTSW |
3 |
54,622,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1829:Supt20
|
UTSW |
3 |
54,635,079 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3236:Supt20
|
UTSW |
3 |
54,616,501 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3237:Supt20
|
UTSW |
3 |
54,616,501 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4989:Supt20
|
UTSW |
3 |
54,602,555 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5180:Supt20
|
UTSW |
3 |
54,616,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5188:Supt20
|
UTSW |
3 |
54,617,849 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5423:Supt20
|
UTSW |
3 |
54,616,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Supt20
|
UTSW |
3 |
54,620,611 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5888:Supt20
|
UTSW |
3 |
54,619,628 (GRCm39) |
missense |
probably benign |
|
|
R5995:Supt20
|
UTSW |
3 |
54,616,474 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6316:Supt20
|
UTSW |
3 |
54,635,069 (GRCm39) |
small insertion |
probably benign |
|
|
R6623:Supt20
|
UTSW |
3 |
54,625,715 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6713:Supt20
|
UTSW |
3 |
54,606,022 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6874:Supt20
|
UTSW |
3 |
54,635,175 (GRCm39) |
splice site |
probably null |
|
|
R7149:Supt20
|
UTSW |
3 |
54,635,832 (GRCm39) |
missense |
unknown |
|
|
R7592:Supt20
|
UTSW |
3 |
54,614,543 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7940:Supt20
|
UTSW |
3 |
54,620,620 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8480:Supt20
|
UTSW |
3 |
54,614,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8550:Supt20
|
UTSW |
3 |
54,623,063 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8935:Supt20
|
UTSW |
3 |
54,634,988 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9412:Supt20
|
UTSW |
3 |
54,635,069 (GRCm39) |
small deletion |
probably benign |
|
|
R9414:Supt20
|
UTSW |
3 |
54,610,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Supt20
|
UTSW |
3 |
54,623,015 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF001:Supt20
|
UTSW |
3 |
54,635,083 (GRCm39) |
small insertion |
probably benign |
|
|
RF009:Supt20
|
UTSW |
3 |
54,635,083 (GRCm39) |
small insertion |
probably benign |
|
|
RF010:Supt20
|
UTSW |
3 |
54,635,083 (GRCm39) |
small insertion |
probably benign |
|
|
RF014:Supt20
|
UTSW |
3 |
54,635,086 (GRCm39) |
small insertion |
probably benign |
|
|
RF026:Supt20
|
UTSW |
3 |
54,635,091 (GRCm39) |
nonsense |
probably null |
|
|
RF026:Supt20
|
UTSW |
3 |
54,635,068 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Supt20
|
UTSW |
3 |
54,635,087 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Supt20
|
UTSW |
3 |
54,635,068 (GRCm39) |
small insertion |
probably benign |
|
|
RF045:Supt20
|
UTSW |
3 |
54,635,087 (GRCm39) |
small insertion |
probably benign |
|
|
RF052:Supt20
|
UTSW |
3 |
54,635,086 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTAACCATGTTGAATTGGC -3'
(R):5'- TAGGGAATGTAACCACTCAGC -3'
Sequencing Primer
(F):5'- CCATGTTGAATTGGCATTGTACAG -3'
(R):5'- GGGAATGTAACCACTCAGCTTTACAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation