Incidental Mutation 'R5180:Supt20'
| ID |
399690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supt20
|
| Ensembl Gene |
ENSMUSG00000027751 |
| Gene Name |
SPT20 SAGA complex component |
| Synonyms |
p38IP, Fam48a, p38 interacting protein, D3Ertd300e |
| MMRRC Submission |
042760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R5180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
54600228-54636187 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 54616506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 254
(H254Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000170552]
[ENSMUST00000178832]
[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 benign
Transcript: ENSMUST00000170552
AA Change: H255Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131454
Gene: ENSMUSG00000027751
AA Change: H255Q
| 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 benign
Transcript: ENSMUST00000178832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197502
AA Change: H254Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
AA Change: H254Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000198745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199652
|
| SMART Domains |
Protein: ENSMUSP00000142648
Gene: ENSMUSG00000027751
| 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 benign
Transcript: ENSMUST00000199655
|
| SMART Domains |
Protein: ENSMUSP00000143520
Gene: ENSMUSG00000027751
| 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 benign
Transcript: ENSMUST00000199674
AA Change: H254Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
AA Change: H254Q
| 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 benign
Transcript: ENSMUST00000200439
AA Change: H254Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
AA Change: H254Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000200450
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (60/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,416,510 (GRCm39) |
T4091A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,431,535 (GRCm39) |
|
probably benign |
Het |
| Ago3 |
C |
T |
4: 126,261,544 (GRCm39) |
V435I |
probably benign |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ampd2 |
G |
T |
3: 107,986,358 (GRCm39) |
Q273K |
probably benign |
Het |
| Ankrd35 |
C |
A |
3: 96,587,789 (GRCm39) |
H109Q |
probably damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,296,695 (GRCm39) |
L153S |
possibly damaging |
Het |
| C1qtnf7 |
G |
A |
5: 43,773,156 (GRCm39) |
V152M |
probably benign |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep295 |
C |
T |
9: 15,243,416 (GRCm39) |
C1680Y |
probably benign |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,714 (GRCm39) |
I104F |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,993,899 (GRCm39) |
N434S |
unknown |
Het |
| Dab2ip |
C |
T |
2: 35,610,503 (GRCm39) |
P782L |
possibly damaging |
Het |
| Dhx34 |
C |
A |
7: 15,939,405 (GRCm39) |
G663* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,462,446 (GRCm39) |
D3715G |
probably damaging |
Het |
| Dnajc11 |
C |
T |
4: 152,054,396 (GRCm39) |
R201C |
probably damaging |
Het |
| Erf |
A |
T |
7: 24,945,690 (GRCm39) |
I27N |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,543,507 (GRCm39) |
Y380F |
probably damaging |
Het |
| Gm3336 |
A |
G |
8: 71,173,110 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,812,200 (GRCm39) |
Y152H |
probably damaging |
Het |
| Gm6899 |
A |
G |
11: 26,543,795 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
T |
C |
10: 81,380,707 (GRCm39) |
K19E |
probably benign |
Het |
| Gpr15 |
C |
A |
16: 58,538,248 (GRCm39) |
L280F |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Ino80d |
C |
A |
1: 63,125,488 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
G |
10: 119,981,687 (GRCm39) |
K406T |
probably damaging |
Het |
| Kif15 |
G |
A |
9: 122,828,275 (GRCm39) |
C634Y |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Macrod2 |
A |
T |
2: 140,237,636 (GRCm39) |
E14V |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,005,374 (GRCm39) |
D261E |
probably benign |
Het |
| Mdga1 |
A |
T |
17: 30,076,710 (GRCm39) |
|
probably benign |
Het |
| Natd1 |
G |
T |
11: 60,804,482 (GRCm39) |
R24S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
| Or5b101 |
A |
T |
19: 13,004,776 (GRCm39) |
S306T |
probably benign |
Het |
| Parp9 |
T |
A |
16: 35,774,106 (GRCm39) |
Y81* |
probably null |
Het |
| Pde4d |
A |
G |
13: 109,877,007 (GRCm39) |
N73S |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,941,872 (GRCm39) |
I129N |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,940,761 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
G |
T |
6: 146,928,819 (GRCm39) |
R813L |
probably damaging |
Het |
| Ramp3 |
T |
A |
11: 6,608,619 (GRCm39) |
L16Q |
unknown |
Het |
| Slc35a4 |
T |
C |
18: 36,815,688 (GRCm39) |
S173P |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,772,115 (GRCm39) |
V415A |
probably damaging |
Het |
| Smarcc2 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
10: 128,323,231 (GRCm39) |
|
probably benign |
Het |
| Snph |
G |
A |
2: 151,442,307 (GRCm39) |
R43W |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,869,046 (GRCm39) |
C112R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,745,008 (GRCm39) |
Y206C |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,248,504 (GRCm39) |
V1961A |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,383,948 (GRCm39) |
Y30* |
probably null |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tnfrsf1b |
C |
A |
4: 144,954,067 (GRCm39) |
C94F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,579,740 (GRCm39) |
Y23718H |
probably damaging |
Het |
| Ube2i |
T |
C |
17: 25,484,268 (GRCm39) |
|
probably benign |
Het |
| Vmn2r16 |
G |
T |
5: 109,478,391 (GRCm39) |
V49F |
probably benign |
Het |
| Vps45 |
A |
G |
3: 95,953,683 (GRCm39) |
I223T |
possibly damaging |
Het |
| Zfp955a |
T |
C |
17: 33,461,592 (GRCm39) |
Y180C |
probably benign |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
| Zscan18 |
T |
A |
7: 12,509,216 (GRCm39) |
|
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 |
|
|
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 |
|
|
R6988:Supt20
|
UTSW |
3 |
54,606,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAAAGCTTGCTGGTGTGAAAG -3'
(R):5'- AGTTACAGGGGCTCCGTTTC -3'
Sequencing Primer
(F):5'- TGCTGGTGTGAAAGTTGTATTTATAG -3'
(R):5'- AGGGGCTCCGTTTCCACATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation