Incidental Mutation 'R9694:Supt20'
| ID |
735933 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R9694 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
54600228-54636187 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 54623015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 496
(S496L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000170552]
[ENSMUST00000178832]
[ENSMUST00000197502]
[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: S496L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000131454
Gene: ENSMUSG00000027751
AA Change: S496L
| 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: S495L
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
AA Change: S495L
| 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
AA Change: S494L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
AA Change: S494L
| 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: S495L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
AA Change: S495L
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,899,573 (GRCm39) |
Y948N |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,558,972 (GRCm39) |
D229G |
probably benign |
Het |
| Adamts4 |
T |
C |
1: 171,081,530 (GRCm39) |
S395P |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,094,774 (GRCm39) |
Y567H |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,682,139 (GRCm39) |
N212D |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,597,708 (GRCm39) |
F775S |
probably damaging |
Het |
| Baz1b |
A |
T |
5: 135,273,094 (GRCm39) |
Q1406L |
probably benign |
Het |
| C030006K11Rik |
A |
T |
15: 76,607,928 (GRCm39) |
V30D |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,701,993 (GRCm39) |
V262E |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,632,803 (GRCm39) |
G183R |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,441,341 (GRCm39) |
I2257T |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,754,809 (GRCm39) |
I266T |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,923,685 (GRCm39) |
Y319* |
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,286,340 (GRCm39) |
I125F |
probably benign |
Het |
| Dcdc2c |
A |
T |
12: 28,585,553 (GRCm39) |
I80N |
|
Het |
| Dmtn |
T |
C |
14: 70,852,732 (GRCm39) |
|
probably null |
Het |
| Dock2 |
T |
C |
11: 34,218,054 (GRCm39) |
N1172S |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,818,791 (GRCm39) |
S1564P |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,080,853 (GRCm39) |
I350V |
possibly damaging |
Het |
| Eif4enif1 |
C |
T |
11: 3,170,384 (GRCm39) |
L146F |
probably damaging |
Het |
| Ergic1 |
T |
G |
17: 26,843,585 (GRCm39) |
D59E |
probably benign |
Het |
| F2rl2 |
A |
T |
13: 95,838,050 (GRCm39) |
D365V |
possibly damaging |
Het |
| Fbxl16 |
C |
T |
17: 26,036,813 (GRCm39) |
Q265* |
probably null |
Het |
| Fbxw26 |
T |
C |
9: 109,575,135 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,929,545 (GRCm39) |
Y3983F |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,966,460 (GRCm39) |
D78E |
probably benign |
Het |
| Gas2l2 |
A |
C |
11: 83,314,170 (GRCm39) |
S381A |
possibly damaging |
Het |
| Gm57858 |
A |
G |
3: 36,073,092 (GRCm39) |
S397P |
possibly damaging |
Het |
| Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
| Gxylt2 |
T |
A |
6: 100,710,174 (GRCm39) |
V105E |
probably benign |
Het |
| Hexd |
T |
C |
11: 121,107,813 (GRCm39) |
V181A |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,691 (GRCm39) |
T274A |
probably benign |
Het |
| Ik |
T |
A |
18: 36,877,840 (GRCm39) |
D5E |
probably benign |
Het |
| Ilkap |
A |
G |
1: 91,303,973 (GRCm39) |
C163R |
|
Het |
| Itpr3 |
C |
T |
17: 27,334,927 (GRCm39) |
T2147I |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,950,173 (GRCm39) |
V1418E |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
| Lmna |
CAGCACGGTGCGTGAGC |
CAGC |
3: 88,389,857 (GRCm39) |
|
probably null |
Het |
| Lvrn |
A |
T |
18: 47,033,609 (GRCm39) |
D940V |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,997,027 (GRCm39) |
R206H |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,268 (GRCm39) |
L137Q |
probably damaging |
Het |
| Npc2 |
C |
A |
12: 84,807,638 (GRCm39) |
L73F |
probably benign |
Het |
| Or11g26 |
A |
G |
14: 50,752,669 (GRCm39) |
T3A |
probably benign |
Het |
| Or52i2 |
A |
T |
7: 102,320,011 (GRCm39) |
I295F |
possibly damaging |
Het |
| Or5al1 |
T |
C |
2: 85,990,681 (GRCm39) |
E11G |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,879,021 (GRCm39) |
V41E |
probably damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,718 (GRCm39) |
I186T |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,952,565 (GRCm39) |
H533R |
probably benign |
Het |
| Pax7 |
G |
A |
4: 139,556,819 (GRCm39) |
T147M |
probably benign |
Het |
| Pdik1l |
A |
T |
4: 134,006,711 (GRCm39) |
S143T |
unknown |
Het |
| Prkg1 |
T |
G |
19: 30,764,371 (GRCm39) |
T255P |
possibly damaging |
Het |
| Prmt2 |
A |
T |
10: 76,061,213 (GRCm39) |
I91N |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,116,484 (GRCm39) |
Y932H |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 22,959,694 (GRCm39) |
I64F |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,946 (GRCm39) |
K154R |
probably damaging |
Het |
| Rab8b |
T |
C |
9: 66,826,824 (GRCm39) |
D31G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,473,378 (GRCm39) |
S768P |
probably damaging |
Het |
| Rbm5 |
A |
T |
9: 107,622,152 (GRCm39) |
D607E |
probably benign |
Het |
| Reep6 |
T |
A |
10: 80,169,393 (GRCm39) |
V131E |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,832,099 (GRCm39) |
I23F |
probably damaging |
Het |
| Rubcn |
A |
T |
16: 32,663,481 (GRCm39) |
V385D |
probably benign |
Het |
| Sall2 |
C |
T |
14: 52,552,124 (GRCm39) |
G357D |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,174,881 (GRCm39) |
L547H |
probably damaging |
Het |
| Slc16a6 |
T |
C |
11: 109,354,322 (GRCm39) |
T100A |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,800,535 (GRCm39) |
L2250P |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,876,901 (GRCm39) |
A808T |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,810,151 (GRCm39) |
T785A |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,211,535 (GRCm39) |
S199A |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,928,654 (GRCm39) |
S319R |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,626,196 (GRCm39) |
F518L |
probably damaging |
Het |
| Tdpoz3 |
T |
A |
3: 93,734,156 (GRCm39) |
V277D |
probably benign |
Het |
| Unc45a |
A |
C |
7: 79,975,403 (GRCm39) |
Y934D |
probably damaging |
Het |
| Vmn1r192 |
G |
A |
13: 22,372,119 (GRCm39) |
P34S |
probably benign |
Het |
| Wipf3 |
T |
C |
6: 54,466,004 (GRCm39) |
S421P |
possibly damaging |
Het |
| Zfp296 |
A |
G |
7: 19,314,227 (GRCm39) |
K361E |
possibly damaging |
Het |
| Zfp882 |
T |
A |
8: 72,667,915 (GRCm39) |
N247K |
probably benign |
Het |
| Zfpm2 |
A |
G |
15: 40,965,710 (GRCm39) |
T732A |
possibly 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 |
|
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 |
54,635,068 (GRCm39) |
small insertion |
probably benign |
|
|
RF026:Supt20
|
UTSW |
3 |
54,635,091 (GRCm39) |
nonsense |
probably null |
|
|
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'- CTCCAGAGGTAGCAGATGTG -3'
(R):5'- GCGACTTACACATTTTGGGTAC -3'
Sequencing Primer
(F):5'- CAGAGGTAGCAGATGTGGGTGG -3'
(R):5'- CACATTTTGGGTACACAGTACATTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation