Incidental Mutation 'R1689:Supt20'
ID |
189554 |
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 |
039722-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.939)
|
Stock # |
R1689 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
54600228-54636187 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 54619583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 355
(L355*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143059
(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 null
Transcript: ENSMUST00000170552
AA Change: L356*
|
SMART Domains |
Protein: ENSMUSP00000131454 Gene: ENSMUSG00000027751 AA Change: L356*
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 null
Transcript: ENSMUST00000197502
AA Change: L355*
|
SMART Domains |
Protein: ENSMUSP00000143750 Gene: ENSMUSG00000027751 AA Change: L355*
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 null
Transcript: ENSMUST00000199674
AA Change: L355*
|
SMART Domains |
Protein: ENSMUSP00000142948 Gene: ENSMUSG00000027751 AA Change: L355*
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 null
Transcript: ENSMUST00000200439
AA Change: L355*
|
SMART Domains |
Protein: ENSMUSP00000143059 Gene: ENSMUSG00000027751 AA Change: L355*
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,769,827 (GRCm39) |
K896R |
probably benign |
Het |
Adcy9 |
A |
T |
16: 4,115,426 (GRCm39) |
|
probably null |
Het |
Adgre1 |
T |
C |
17: 57,756,921 (GRCm39) |
F726S |
probably benign |
Het |
Ahctf1 |
A |
T |
1: 179,595,948 (GRCm39) |
S148T |
probably damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Ammecr1l |
C |
A |
18: 31,913,741 (GRCm39) |
A289D |
probably benign |
Het |
Amotl1 |
T |
C |
9: 14,504,518 (GRCm39) |
Y230C |
probably damaging |
Het |
Armc6 |
A |
T |
8: 70,682,187 (GRCm39) |
S65R |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,084,575 (GRCm39) |
Y1440* |
probably null |
Het |
Atf6b |
T |
A |
17: 34,869,276 (GRCm39) |
D164E |
probably damaging |
Het |
B4galt6 |
C |
T |
18: 20,839,553 (GRCm39) |
S127N |
probably benign |
Het |
Bcl11a |
A |
T |
11: 24,113,167 (GRCm39) |
Y170F |
probably damaging |
Het |
Bcl11a |
A |
T |
11: 24,114,406 (GRCm39) |
D583V |
possibly damaging |
Het |
Btnl1 |
T |
A |
17: 34,600,182 (GRCm39) |
Y228* |
probably null |
Het |
Cav2 |
A |
G |
6: 17,281,421 (GRCm39) |
H21R |
probably benign |
Het |
Celsr2 |
T |
A |
3: 108,314,620 (GRCm39) |
D1135V |
possibly damaging |
Het |
Cntnap1 |
A |
C |
11: 101,079,699 (GRCm39) |
|
probably null |
Het |
Cysltr2 |
T |
C |
14: 73,267,470 (GRCm39) |
D80G |
possibly damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dgkh |
A |
T |
14: 78,855,984 (GRCm39) |
M363K |
possibly damaging |
Het |
Eml5 |
C |
T |
12: 98,797,194 (GRCm39) |
V1112M |
probably damaging |
Het |
Entpd7 |
A |
G |
19: 43,713,915 (GRCm39) |
T425A |
probably damaging |
Het |
Ephx2 |
T |
A |
14: 66,324,475 (GRCm39) |
K373* |
probably null |
Het |
F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
Fbxw10 |
A |
T |
11: 62,750,862 (GRCm39) |
I482L |
probably damaging |
Het |
Fbxw8 |
T |
C |
5: 118,215,682 (GRCm39) |
S443G |
probably damaging |
Het |
Fdft1 |
T |
C |
14: 63,394,138 (GRCm39) |
E191G |
probably benign |
Het |
Fgd2 |
A |
G |
17: 29,582,696 (GRCm39) |
E26G |
probably benign |
Het |
Gabra4 |
T |
C |
5: 71,790,885 (GRCm39) |
|
probably null |
Het |
Gc |
A |
G |
5: 89,589,059 (GRCm39) |
|
probably null |
Het |
Heatr1 |
T |
A |
13: 12,439,506 (GRCm39) |
D1361E |
probably benign |
Het |
Hid1 |
A |
G |
11: 115,251,183 (GRCm39) |
F118L |
probably damaging |
Het |
Igsf8 |
G |
T |
1: 172,146,504 (GRCm39) |
G564W |
probably damaging |
Het |
Il12rb2 |
A |
G |
6: 67,313,744 (GRCm39) |
V4A |
probably benign |
Het |
Irak3 |
T |
C |
10: 119,982,457 (GRCm39) |
E335G |
probably damaging |
Het |
Itgb8 |
T |
G |
12: 119,134,555 (GRCm39) |
Q504P |
probably benign |
Het |
Kbtbd12 |
A |
T |
6: 88,595,567 (GRCm39) |
Y88N |
probably damaging |
Het |
Klk1b5 |
T |
C |
7: 43,869,969 (GRCm39) |
I226T |
probably damaging |
Het |
L3hypdh |
A |
T |
12: 72,131,527 (GRCm39) |
I135N |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,333,873 (GRCm39) |
T1456K |
probably benign |
Het |
Mrgprd |
C |
A |
7: 144,875,454 (GRCm39) |
Y108* |
probably null |
Het |
Muc6 |
C |
T |
7: 141,234,265 (GRCm39) |
G742D |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,522,666 (GRCm39) |
I1572F |
probably damaging |
Het |
Nceh1 |
A |
G |
3: 27,280,231 (GRCm39) |
Y126C |
probably damaging |
Het |
Or14j1 |
T |
C |
17: 38,146,495 (GRCm39) |
S202P |
possibly damaging |
Het |
Or1ak2 |
A |
G |
2: 36,827,989 (GRCm39) |
N286S |
probably damaging |
Het |
Or7d11 |
A |
T |
9: 19,966,422 (GRCm39) |
N112K |
possibly damaging |
Het |
Pacs1 |
G |
T |
19: 5,322,643 (GRCm39) |
|
probably benign |
Het |
Pappa2 |
A |
G |
1: 158,784,968 (GRCm39) |
L14P |
probably damaging |
Het |
Pdlim2 |
C |
T |
14: 70,408,688 (GRCm39) |
G176D |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,376 (GRCm39) |
K169I |
possibly damaging |
Het |
Ptpra |
T |
C |
2: 130,345,412 (GRCm39) |
F5L |
probably benign |
Het |
Qrfprl |
A |
G |
6: 65,358,591 (GRCm39) |
N105S |
possibly damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,723,552 (GRCm39) |
L2114P |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Senp2 |
T |
A |
16: 21,845,416 (GRCm39) |
Y217N |
probably damaging |
Het |
Sned1 |
C |
T |
1: 93,211,094 (GRCm39) |
R1061C |
probably damaging |
Het |
Spag16 |
C |
T |
1: 70,500,277 (GRCm39) |
T535I |
probably benign |
Het |
Tmem132b |
A |
G |
5: 125,864,678 (GRCm39) |
H928R |
possibly damaging |
Het |
Tpo |
A |
T |
12: 30,148,245 (GRCm39) |
L552H |
probably damaging |
Het |
Tsfm |
A |
T |
10: 126,864,324 (GRCm39) |
N130K |
probably damaging |
Het |
Usp48 |
T |
A |
4: 137,383,418 (GRCm39) |
|
probably null |
Het |
Vsig10 |
A |
G |
5: 117,490,825 (GRCm39) |
D544G |
probably benign |
Het |
Vsig10l |
C |
T |
7: 43,114,792 (GRCm39) |
T433I |
possibly damaging |
Het |
Wdr81 |
A |
G |
11: 75,336,422 (GRCm39) |
F1655L |
probably damaging |
Het |
Wfdc3 |
T |
A |
2: 164,576,111 (GRCm39) |
D60V |
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 |
|
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'- TGTTAAGTGCTGTGACAATGTCCAGTC -3'
(R):5'- TAGCAAGCAGCTCCTTGGTAGCTC -3'
Sequencing Primer
(F):5'- CCTTTAGTGCCATGTATATAGCAGAC -3'
(R):5'- ACTGGGATGGAGACATTTGG -3'
|
Posted On |
2014-05-14 |