Incidental Mutation 'RF010:Supt20'
ID |
603118 |
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 # |
RF010 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
54600228-54636187 bp(+) (GRCm39) |
Type of Mutation |
small insertion (2 aa in frame mutation) |
DNA Base Change (assembly) |
AGCAGC to AGCAGCGGCAGC
at 54635083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143231
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000029316]
[ENSMUST00000200441]
[ENSMUST00000197502]
[ENSMUST00000199674]
[ENSMUST00000200439]
[ENSMUST00000154787]
[ENSMUST00000153224]
|
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: ENSMUST00000029316
|
SMART Domains |
Protein: ENSMUSP00000029316 Gene: ENSMUSG00000027752
Domain | Start | End | E-Value | Type |
Pfam:RNase_PH
|
31 |
166 |
2.3e-29 |
PFAM |
Pfam:RNase_PH_C
|
191 |
258 |
8.9e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125632
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127112
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134892
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140935
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197502
|
SMART Domains |
Protein: ENSMUSP00000143750 Gene: ENSMUSG00000027751
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 benign
Transcript: ENSMUST00000199674
|
SMART Domains |
Protein: ENSMUSP00000142948 Gene: ENSMUSG00000027751
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
|
SMART Domains |
Protein: ENSMUSP00000143059 Gene: ENSMUSG00000027751
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: ENSMUST00000154787
|
SMART Domains |
Protein: ENSMUSP00000115876 Gene: ENSMUSG00000027752
Domain | Start | End | E-Value | Type |
Pfam:RNase_PH
|
19 |
106 |
5.7e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153224
|
SMART Domains |
Protein: ENSMUSP00000118780 Gene: ENSMUSG00000027752
Domain | Start | End | E-Value | Type |
Pfam:RNase_PH
|
31 |
130 |
2e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142377
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150923
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG |
GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG |
17: 35,879,473 (GRCm39) |
|
probably benign |
Het |
Acap3 |
CCTGGGCTGCTG |
CCTGGGCTGCTGCATACTGGGCTGCTG |
4: 155,989,553 (GRCm39) |
|
probably benign |
Het |
Ankrd28 |
A |
G |
14: 31,500,943 (GRCm39) |
I16T |
probably damaging |
Het |
AY761185 |
GCACTGTGGGC |
G |
8: 21,433,927 (GRCm39) |
|
probably null |
Het |
Bend3 |
T |
A |
10: 43,386,180 (GRCm39) |
F191Y |
possibly damaging |
Het |
Calhm1 |
GTGGC |
GTGGCTGTGGCTATGGC |
19: 47,129,712 (GRCm39) |
|
probably benign |
Het |
Camkv |
CGCTGCTGC |
CGC |
9: 107,825,059 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
TCTCA |
T |
5: 123,412,224 (GRCm39) |
|
probably benign |
Het |
Chga |
GCA |
GCATCA |
12: 102,527,662 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
CTCTGGCTCTGGCTCTGGCTCTG |
C |
8: 96,030,278 (GRCm39) |
|
probably null |
Het |
Cnot3 |
T |
C |
7: 3,659,068 (GRCm39) |
V438A |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,593,790 (GRCm39) |
W710R |
probably damaging |
Het |
Dyrk1a |
A |
G |
16: 94,478,422 (GRCm39) |
S404G |
probably benign |
Het |
Efhd2 |
GCCGCC |
GCCGCCTCCGCC |
4: 141,602,075 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
GTGT |
GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT |
17: 23,981,149 (GRCm39) |
|
probably null |
Het |
Fmn2 |
T |
A |
1: 174,409,581 (GRCm39) |
S605T |
unknown |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,617 (GRCm39) |
|
probably benign |
Het |
Gabre |
GCTC |
GCTCCGTCTC |
X: 71,313,666 (GRCm39) |
|
probably benign |
Het |
Gli3 |
A |
G |
13: 15,900,954 (GRCm39) |
Y1447C |
probably damaging |
Het |
Hibch |
T |
C |
1: 52,952,891 (GRCm39) |
V297A |
probably benign |
Het |
Ifi213 |
C |
G |
1: 173,409,719 (GRCm39) |
D462H |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
Lce1m |
GCTGCTGCC |
GCTGCTGCCCCCACTGCTGCC |
3: 92,925,597 (GRCm39) |
|
probably benign |
Het |
Lpo |
A |
G |
11: 87,711,928 (GRCm39) |
V43A |
probably benign |
Het |
Map1a |
A |
AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC |
2: 121,136,799 (GRCm39) |
|
probably benign |
Het |
Mapk9 |
A |
G |
11: 49,745,083 (GRCm39) |
|
probably benign |
Het |
Mep1a |
G |
A |
17: 43,797,126 (GRCm39) |
H314Y |
probably damaging |
Het |
Myh3 |
ATTAC |
ATTACTTAC |
11: 66,977,182 (GRCm39) |
|
probably null |
Het |
Myh3 |
AC |
ACTTCC |
11: 66,977,185 (GRCm39) |
|
probably null |
Het |
Nusap1 |
ACGTTAGCAGTGAGGAGCAA |
ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA |
2: 119,458,065 (GRCm39) |
|
probably benign |
Het |
Or10ag56 |
T |
A |
2: 87,139,184 (GRCm39) |
V37E |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,012,594 (GRCm39) |
Q317R |
probably benign |
Het |
Pdcd11 |
AGGAGG |
A |
19: 47,101,890 (GRCm39) |
|
probably null |
Het |
Pfkm |
T |
A |
15: 98,027,674 (GRCm39) |
I651N |
possibly damaging |
Het |
Phldb3 |
CCCCCGCCCC |
CCCCC |
7: 24,325,920 (GRCm39) |
|
probably null |
Het |
Polr1has |
CACCACCAC |
CACCACCACCACCACCACCACTACCACCAC |
17: 37,275,955 (GRCm39) |
|
probably benign |
Het |
Prkce |
T |
C |
17: 86,795,627 (GRCm39) |
V288A |
probably damaging |
Het |
Pxmp4 |
A |
G |
2: 154,434,183 (GRCm39) |
S93P |
probably damaging |
Het |
Rfc4 |
T |
C |
16: 22,946,232 (GRCm39) |
T17A |
probably benign |
Het |
Rfx4 |
CTCTCTCT |
CTCTCTCTCTCTCTCTATCTCTCT |
10: 84,694,351 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
G |
T |
2: 112,606,015 (GRCm39) |
A2415E |
probably damaging |
Het |
Sbp |
ACAAAGATGCTGACAACAAAGATGCTGACA |
ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA |
17: 24,164,325 (GRCm39) |
|
probably benign |
Het |
Sec24c |
T |
A |
14: 20,738,783 (GRCm39) |
|
probably null |
Het |
Sec63 |
C |
A |
10: 42,682,620 (GRCm39) |
A437E |
probably benign |
Het |
Six3 |
GCG |
GCGTCG |
17: 85,928,783 (GRCm39) |
|
probably benign |
Het |
Slco5a1 |
G |
A |
1: 12,942,171 (GRCm39) |
T825I |
probably damaging |
Het |
Spmap2l |
CAG |
CAGCGATCCTCCCCAGTCCCGCAAGGCGAG |
5: 77,164,274 (GRCm39) |
|
probably benign |
Het |
Stard8 |
GGA |
GGAAGA |
X: 98,110,123 (GRCm39) |
|
probably benign |
Het |
Stxbp1 |
A |
G |
2: 32,711,927 (GRCm39) |
V30A |
probably benign |
Het |
Syne1 |
T |
A |
10: 5,196,386 (GRCm39) |
D3882V |
possibly damaging |
Het |
T |
A |
G |
17: 8,660,540 (GRCm39) |
T384A |
probably benign |
Het |
Tbc1d12 |
CGGGGCGG |
CG |
19: 38,825,384 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
CAG |
CAGAAG |
18: 60,968,816 (GRCm39) |
|
probably benign |
Het |
Tcstv5 |
A |
T |
13: 120,411,582 (GRCm39) |
V8E |
probably benign |
Het |
Tfeb |
GCA |
GCAACA |
17: 48,097,019 (GRCm39) |
|
probably benign |
Het |
Tfeb |
CAG |
CAGAAG |
17: 48,097,032 (GRCm39) |
|
probably benign |
Het |
Thumpd3 |
C |
T |
6: 113,033,006 (GRCm39) |
A248V |
probably damaging |
Het |
Tlcd4 |
T |
A |
3: 121,022,533 (GRCm39) |
I103L |
probably benign |
Het |
Tmem181a |
T |
C |
17: 6,330,978 (GRCm39) |
|
probably null |
Het |
Trim41 |
A |
T |
11: 48,698,165 (GRCm39) |
H600Q |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,620,820 (GRCm39) |
C147* |
probably null |
Het |
Ttll2 |
C |
T |
17: 7,618,737 (GRCm39) |
A397T |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,079,046 (GRCm39) |
L1737Q |
probably benign |
Het |
Usp47 |
T |
A |
7: 111,692,145 (GRCm39) |
V869E |
probably damaging |
Het |
Vmn1r231 |
T |
A |
17: 21,110,255 (GRCm39) |
Q220L |
probably damaging |
Het |
Vmn2r26 |
C |
T |
6: 124,016,448 (GRCm39) |
T304I |
possibly damaging |
Het |
Wrn |
T |
C |
8: 33,778,793 (GRCm39) |
N839S |
probably benign |
Het |
Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
GGCCCAGG |
GGCCCAGGAGCACGCCCAGG |
6: 125,013,451 (GRCm39) |
|
probably benign |
Het |
Zfyve26 |
C |
T |
12: 79,302,112 (GRCm39) |
C1828Y |
probably damaging |
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 |
|
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 |
|
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'- GCTAGAATGTCCAGGAATCAGTG -3'
(R):5'- AGCTGACTGGCTTTTAACATGTC -3'
Sequencing Primer
(F):5'- TGTCCAGGAATCAGTGATATACCC -3'
(R):5'- GACTGGCTTTTAACATGTCAGACTC -3'
|
Posted On |
2019-12-04 |