Incidental Mutation 'R5423:Supt20'
ID |
426686 |
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 |
042989-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.939)
|
Stock # |
R5423 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
54600228-54636187 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 54616746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 306
(V306E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000170552]
[ENSMUST00000178832]
[ENSMUST00000197502]
[ENSMUST00000199652]
[ENSMUST00000199674]
[ENSMUST00000200439]
[ENSMUST00000199655]
[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: V307E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131454 Gene: ENSMUSG00000027751 AA Change: V307E
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 damaging
Transcript: ENSMUST00000197502
AA Change: V306E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143750 Gene: ENSMUSG00000027751 AA Change: V306E
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 damaging
Transcript: ENSMUST00000199674
AA Change: V306E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142948 Gene: ENSMUSG00000027751 AA Change: V306E
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: V306E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000143059 Gene: ENSMUSG00000027751 AA Change: V306E
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: 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: 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 |
0.4715 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
98% (60/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,857,678 (GRCm39) |
I289T |
possibly damaging |
Het |
Ak4 |
T |
G |
4: 101,317,760 (GRCm39) |
I110S |
probably damaging |
Het |
Arhgap9 |
T |
G |
10: 127,165,418 (GRCm39) |
I609S |
probably damaging |
Het |
Arid4a |
C |
A |
12: 71,116,634 (GRCm39) |
S242* |
probably null |
Het |
Ceacam1 |
T |
G |
7: 25,173,951 (GRCm39) |
I235L |
probably benign |
Het |
Chil3 |
T |
C |
3: 106,055,978 (GRCm39) |
D365G |
probably damaging |
Het |
Ckap2 |
A |
C |
8: 22,667,212 (GRCm39) |
S216R |
probably benign |
Het |
Cyp2e1 |
G |
T |
7: 140,350,031 (GRCm39) |
V239L |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,397,431 (GRCm39) |
M3954K |
probably benign |
Het |
Ercc6l2 |
A |
T |
13: 64,020,072 (GRCm39) |
|
probably benign |
Het |
Etv5 |
T |
C |
16: 22,202,404 (GRCm39) |
D468G |
probably damaging |
Het |
Fbxo44 |
T |
A |
4: 148,238,686 (GRCm39) |
I213F |
probably benign |
Het |
Gm5084 |
A |
G |
13: 60,360,356 (GRCm39) |
|
noncoding transcript |
Het |
Gpr17 |
G |
A |
18: 32,080,694 (GRCm39) |
T123I |
probably damaging |
Het |
Grin3a |
A |
G |
4: 49,770,376 (GRCm39) |
|
probably benign |
Het |
H2-D1 |
T |
G |
17: 35,484,883 (GRCm39) |
L248R |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,577,723 (GRCm39) |
I2013V |
probably damaging |
Het |
Hp1bp3 |
A |
T |
4: 137,953,208 (GRCm39) |
D84V |
probably damaging |
Het |
Ift140 |
T |
C |
17: 25,252,059 (GRCm39) |
F33S |
probably damaging |
Het |
Inhbc |
C |
G |
10: 127,193,296 (GRCm39) |
C240S |
probably damaging |
Het |
Iqgap1 |
T |
A |
7: 80,449,610 (GRCm39) |
E62V |
probably damaging |
Het |
Kcna4 |
G |
A |
2: 107,126,151 (GRCm39) |
W295* |
probably null |
Het |
Kdm4a |
C |
T |
4: 117,996,105 (GRCm39) |
A975T |
probably damaging |
Het |
Lrrtm3 |
T |
C |
10: 63,923,931 (GRCm39) |
D412G |
possibly damaging |
Het |
Midn |
A |
C |
10: 79,991,027 (GRCm39) |
I346L |
probably benign |
Het |
Ndufa10 |
C |
T |
1: 92,390,042 (GRCm39) |
D259N |
probably benign |
Het |
Nefh |
C |
A |
11: 4,890,985 (GRCm39) |
A545S |
possibly damaging |
Het |
Prpf8 |
A |
G |
11: 75,399,784 (GRCm39) |
Y2281C |
probably damaging |
Het |
Psip1 |
G |
A |
4: 83,378,367 (GRCm39) |
|
probably benign |
Het |
Ptpro |
G |
T |
6: 137,419,705 (GRCm39) |
A184S |
probably damaging |
Het |
Rab37 |
T |
A |
11: 115,047,853 (GRCm39) |
I65K |
possibly damaging |
Het |
Rasgrp4 |
T |
C |
7: 28,844,561 (GRCm39) |
L247P |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,644,620 (GRCm39) |
V295A |
probably damaging |
Het |
Serpina3g |
A |
G |
12: 104,204,253 (GRCm39) |
|
probably benign |
Het |
Shox2 |
A |
G |
3: 66,881,087 (GRCm39) |
|
probably benign |
Het |
Skint6 |
T |
G |
4: 112,707,937 (GRCm39) |
D977A |
possibly damaging |
Het |
Slc25a23 |
C |
T |
17: 57,360,597 (GRCm39) |
V248M |
probably damaging |
Het |
Slco1a7 |
T |
A |
6: 141,690,188 (GRCm39) |
K188N |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,745,294 (GRCm39) |
D3008E |
possibly damaging |
Het |
St18 |
A |
G |
1: 6,872,840 (GRCm39) |
S192G |
possibly damaging |
Het |
T |
T |
C |
17: 8,660,597 (GRCm39) |
Y403H |
probably damaging |
Het |
Tars3 |
C |
A |
7: 65,333,567 (GRCm39) |
N588K |
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,640,907 (GRCm39) |
V1026A |
probably benign |
Het |
Trpv4 |
T |
C |
5: 114,774,506 (GRCm39) |
T193A |
probably benign |
Het |
Ubqln4 |
A |
G |
3: 88,470,506 (GRCm39) |
N326S |
probably damaging |
Het |
Uggt2 |
G |
A |
14: 119,256,898 (GRCm39) |
T1112I |
probably damaging |
Het |
Vasn |
C |
T |
16: 4,466,284 (GRCm39) |
P77L |
probably benign |
Het |
Vps9d1 |
A |
C |
8: 123,974,704 (GRCm39) |
|
probably null |
Het |
Washc4 |
C |
A |
10: 83,415,418 (GRCm39) |
Q803K |
possibly damaging |
Het |
Zcchc2 |
C |
T |
1: 105,958,430 (GRCm39) |
T967I |
probably damaging |
Het |
Zfp874a |
G |
A |
13: 67,590,473 (GRCm39) |
L404F |
possibly damaging |
Het |
Zscan30 |
T |
C |
18: 24,104,773 (GRCm39) |
|
noncoding transcript |
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 |
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'- CTTGATTTCTTACAAAAGCGGAAGG -3'
(R):5'- TAACTGAGGCTGGATTGGCG -3'
Sequencing Primer
(F):5'- AAGCAGGCCAGCATTATGAC -3'
(R):5'- TGGATTGGCGGTCCACTCAATAC -3'
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Posted On |
2016-09-01 |