Incidental Mutation 'R0675:Supt20'
ID |
61591 |
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 |
038860-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.939)
|
Stock # |
R0675 (G1)
|
Quality Score |
141 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
54600228-54636187 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 54614390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 169
(T169I)
|
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: T170I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131454 Gene: ENSMUSG00000027751 AA Change: T170I
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: T169I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143750 Gene: ENSMUSG00000027751 AA Change: T169I
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: T169I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142648 Gene: ENSMUSG00000027751 AA Change: T169I
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 damaging
Transcript: ENSMUST00000199674
AA Change: T169I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142948 Gene: ENSMUSG00000027751 AA Change: T169I
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: T169I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143059 Gene: ENSMUSG00000027751 AA Change: T169I
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 |
0.8697 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
97% (88/91) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
C |
T |
5: 36,024,124 (GRCm39) |
|
probably benign |
Het |
Aire |
T |
C |
10: 77,870,327 (GRCm39) |
|
probably benign |
Het |
Akap12 |
T |
C |
10: 4,303,315 (GRCm39) |
S42P |
probably benign |
Het |
Amigo1 |
T |
C |
3: 108,098,985 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
A |
G |
4: 98,921,499 (GRCm39) |
T206A |
probably benign |
Het |
Ank1 |
T |
A |
8: 23,600,400 (GRCm39) |
|
probably benign |
Het |
Ano5 |
A |
T |
7: 51,224,558 (GRCm39) |
T472S |
probably damaging |
Het |
Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
Cd200 |
T |
C |
16: 45,217,473 (GRCm39) |
I73V |
probably benign |
Het |
Cd47 |
T |
C |
16: 49,727,162 (GRCm39) |
I318T |
possibly damaging |
Het |
Cep290 |
A |
G |
10: 100,404,675 (GRCm39) |
|
probably null |
Het |
Cep350 |
A |
G |
1: 155,835,499 (GRCm39) |
S66P |
possibly damaging |
Het |
Cfap46 |
C |
T |
7: 139,255,950 (GRCm39) |
C300Y |
probably damaging |
Het |
Chd1 |
T |
A |
17: 15,978,523 (GRCm39) |
|
probably benign |
Het |
Chd5 |
C |
A |
4: 152,470,407 (GRCm39) |
T1913K |
probably benign |
Het |
Cimip3 |
T |
C |
17: 47,724,701 (GRCm39) |
E140G |
probably benign |
Het |
Clec4b1 |
A |
G |
6: 123,048,405 (GRCm39) |
Y180C |
probably damaging |
Het |
Cntnap5c |
A |
T |
17: 58,341,990 (GRCm39) |
D227V |
probably damaging |
Het |
Col19a1 |
C |
G |
1: 24,614,536 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,208,145 (GRCm39) |
M1270K |
probably benign |
Het |
Cyp2c66 |
T |
A |
19: 39,175,060 (GRCm39) |
F487I |
possibly damaging |
Het |
Dpp8 |
T |
C |
9: 64,973,784 (GRCm39) |
|
probably benign |
Het |
Duoxa1 |
A |
T |
2: 122,136,861 (GRCm39) |
|
probably benign |
Het |
Edil3 |
A |
G |
13: 89,325,399 (GRCm39) |
K263E |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,200,035 (GRCm39) |
L1013P |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,815,246 (GRCm39) |
|
probably benign |
Het |
Gab1 |
A |
G |
8: 81,496,297 (GRCm39) |
S668P |
probably damaging |
Het |
Galnt14 |
T |
C |
17: 73,852,030 (GRCm39) |
T130A |
probably damaging |
Het |
Gm10192 |
G |
A |
4: 97,071,109 (GRCm39) |
H99Y |
unknown |
Het |
Gm5592 |
A |
G |
7: 40,938,811 (GRCm39) |
T698A |
possibly damaging |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma3 |
A |
G |
11: 98,522,017 (GRCm39) |
K149R |
probably benign |
Het |
Igkv4-71 |
A |
G |
6: 69,220,411 (GRCm39) |
S29P |
probably damaging |
Het |
Igsf10 |
C |
T |
3: 59,236,015 (GRCm39) |
V1389I |
probably benign |
Het |
Ik |
T |
C |
18: 36,880,386 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
Iqsec2 |
G |
A |
X: 150,987,120 (GRCm39) |
E398K |
possibly damaging |
Het |
Jmjd6 |
A |
G |
11: 116,731,353 (GRCm39) |
V232A |
probably damaging |
Het |
Klhdc9 |
G |
A |
1: 171,187,895 (GRCm39) |
T112M |
possibly damaging |
Het |
Marcks |
A |
G |
10: 37,017,181 (GRCm39) |
|
probably benign |
Het |
Mctp2 |
T |
A |
7: 71,732,918 (GRCm39) |
T829S |
probably damaging |
Het |
Mroh2a |
C |
A |
1: 88,156,102 (GRCm39) |
A78E |
probably damaging |
Het |
Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
Mtmr14 |
A |
T |
6: 113,247,608 (GRCm39) |
H518L |
probably damaging |
Het |
Myo5c |
T |
C |
9: 75,185,571 (GRCm39) |
M978T |
probably benign |
Het |
Nlrc3 |
T |
C |
16: 3,766,775 (GRCm39) |
I1015V |
probably benign |
Het |
Nlrp5 |
C |
A |
7: 23,116,842 (GRCm39) |
Q189K |
possibly damaging |
Het |
Or1e26 |
A |
C |
11: 73,480,078 (GRCm39) |
L162R |
probably damaging |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or51f1d |
A |
G |
7: 102,700,909 (GRCm39) |
I135V |
probably benign |
Het |
Or8k35 |
T |
C |
2: 86,424,423 (GRCm39) |
I250V |
probably benign |
Het |
Otof |
T |
A |
5: 30,539,705 (GRCm39) |
Y1051F |
probably benign |
Het |
Pcdhb14 |
C |
A |
18: 37,581,392 (GRCm39) |
T166K |
possibly damaging |
Het |
Pla2g4e |
A |
G |
2: 120,030,679 (GRCm39) |
|
probably benign |
Het |
Polr3gl |
T |
C |
3: 96,489,471 (GRCm39) |
E20G |
probably damaging |
Het |
Psmd1 |
A |
G |
1: 86,009,761 (GRCm39) |
D295G |
probably benign |
Het |
Ptpn21 |
C |
A |
12: 98,654,475 (GRCm39) |
A831S |
probably benign |
Het |
Pwwp3a |
T |
A |
10: 80,065,914 (GRCm39) |
V56E |
probably damaging |
Het |
Rd3l |
T |
C |
12: 111,946,596 (GRCm39) |
D60G |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,332,660 (GRCm39) |
D2624G |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,541,066 (GRCm39) |
D347G |
probably damaging |
Het |
Sema4g |
G |
A |
19: 44,986,026 (GRCm39) |
R289H |
probably damaging |
Het |
Sema5b |
C |
T |
16: 35,480,703 (GRCm39) |
T761I |
probably benign |
Het |
Septin1 |
A |
T |
7: 126,816,171 (GRCm39) |
F86L |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,415,591 (GRCm39) |
V627A |
possibly damaging |
Het |
Slc25a46 |
C |
A |
18: 31,742,641 (GRCm39) |
G75V |
probably benign |
Het |
Slc45a2 |
T |
A |
15: 11,025,864 (GRCm39) |
Y405N |
probably damaging |
Het |
Spidr |
T |
C |
16: 15,855,498 (GRCm39) |
E339G |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,067,903 (GRCm39) |
H1770Q |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,628,140 (GRCm39) |
Y944C |
probably damaging |
Het |
Tie1 |
G |
A |
4: 118,336,966 (GRCm39) |
Q587* |
probably null |
Het |
Tmem214 |
A |
G |
5: 31,029,169 (GRCm39) |
T203A |
possibly damaging |
Het |
Tmprss15 |
C |
A |
16: 78,782,838 (GRCm39) |
S742I |
probably damaging |
Het |
Wdr87-ps |
T |
C |
7: 29,231,942 (GRCm39) |
|
noncoding transcript |
Het |
Zfhx2 |
A |
G |
14: 55,300,620 (GRCm39) |
V2377A |
probably damaging |
Het |
Zfp763 |
G |
A |
17: 33,238,774 (GRCm39) |
H124Y |
possibly damaging |
Het |
Zfp846 |
T |
C |
9: 20,504,853 (GRCm39) |
S238P |
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 |
|
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 |
|
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'- TGGGAACCATTCACTACATGGTTGC -3'
(R):5'- AGGGAACCTTGGTTTTGTCCAAGC -3'
Sequencing Primer
(F):5'- CATTCACTACATGGTTGCTTATTTTG -3'
(R):5'- GGTTTTGTCCAAGCATCCAAC -3'
|
Posted On |
2013-07-30 |