Incidental Mutation 'R8480:Supt20'
| ID |
657461 |
| 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 |
067924-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R8480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
54600228-54636187 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 54614537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 181
(T181K)
|
| 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: T182K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131454
Gene: ENSMUSG00000027751
AA Change: T182K
| 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: T181K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
AA Change: T181K
| 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: T181K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142648
Gene: ENSMUSG00000027751
AA Change: T181K
| 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: T181K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
AA Change: T181K
| 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: T181K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
AA Change: T181K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (53/54) |
| 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 |
|---|
| Acvr1b |
G |
A |
15: 101,108,720 (GRCm39) |
V499M |
possibly damaging |
Het |
| Adam5 |
G |
A |
8: 25,294,475 (GRCm39) |
Q375* |
probably null |
Het |
| Adgrf1 |
G |
A |
17: 43,606,055 (GRCm39) |
E60K |
probably benign |
Het |
| Alb |
T |
C |
5: 90,610,630 (GRCm39) |
V70A |
probably damaging |
Het |
| Aph1b |
T |
A |
9: 66,695,709 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
G |
A |
9: 105,274,189 (GRCm39) |
R143Q |
possibly damaging |
Het |
| Aste1 |
A |
T |
9: 105,274,995 (GRCm39) |
T351S |
probably damaging |
Het |
| Bace2 |
T |
A |
16: 97,214,670 (GRCm39) |
L286Q |
probably damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,163 (GRCm39) |
G235R |
probably damaging |
Het |
| Bpnt2 |
C |
T |
4: 4,769,376 (GRCm39) |
M246I |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,848,630 (GRCm39) |
H516Q |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,842,486 (GRCm39) |
|
probably null |
Het |
| Cdh22 |
T |
A |
2: 164,988,646 (GRCm39) |
E236D |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,975,043 (GRCm39) |
D1234G |
probably benign |
Het |
| Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
| Cpt2 |
A |
G |
4: 107,764,957 (GRCm39) |
I269T |
probably damaging |
Het |
| Dcaf7 |
T |
A |
11: 105,945,619 (GRCm39) |
S323T |
probably benign |
Het |
| Ddias |
G |
T |
7: 92,508,608 (GRCm39) |
Q436K |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,972,335 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
A |
14: 68,073,859 (GRCm39) |
I294F |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,173,794 (GRCm39) |
D2306E |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,280 (GRCm39) |
D626V |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,290 (GRCm39) |
T27A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,373,568 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
A |
T |
5: 149,551,029 (GRCm39) |
W406R |
probably null |
Het |
| Ighv1-66 |
C |
T |
12: 115,557,002 (GRCm39) |
G27R |
possibly damaging |
Het |
| Krt26 |
T |
C |
11: 99,228,426 (GRCm39) |
E102G |
probably damaging |
Het |
| Krt34 |
T |
A |
11: 99,930,971 (GRCm39) |
|
probably null |
Het |
| Krt36 |
T |
C |
11: 99,993,635 (GRCm39) |
D401G |
possibly damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,518,827 (GRCm39) |
G326S |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,633,802 (GRCm39) |
N758S |
probably damaging |
Het |
| Mrtfb |
A |
T |
16: 13,202,056 (GRCm39) |
|
probably null |
Het |
| Muc4 |
C |
T |
16: 32,574,421 (GRCm39) |
T957I |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,358,743 (GRCm39) |
Y831C |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,678,859 (GRCm39) |
V829E |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,557,827 (GRCm39) |
L72F |
possibly damaging |
Het |
| Or4f14d |
A |
T |
2: 111,960,330 (GRCm39) |
D275E |
possibly damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,286,407 (GRCm39) |
V1161E |
probably damaging |
Het |
| Raver1 |
A |
G |
9: 21,001,576 (GRCm39) |
Y86H |
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,588,705 (GRCm39) |
H1035Q |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,411,284 (GRCm39) |
M814K |
probably benign |
Het |
| Sh3d19 |
T |
G |
3: 85,992,184 (GRCm39) |
W71G |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,065,529 (GRCm39) |
Y759C |
probably damaging |
Het |
| Spg11 |
G |
T |
2: 121,943,560 (GRCm39) |
D197E |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
A |
T |
7: 4,939,328 (GRCm39) |
D588V |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,244,015 (GRCm39) |
S1363R |
probably benign |
Het |
| Tbcel |
G |
A |
9: 42,375,169 (GRCm39) |
|
probably null |
Het |
| Ube2e3 |
T |
C |
2: 78,749,158 (GRCm39) |
L169P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,778,796 (GRCm39) |
F595S |
probably benign |
Het |
| Zfp473 |
G |
T |
7: 44,382,323 (GRCm39) |
P670Q |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,986,299 (GRCm39) |
A660V |
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 |
|
|
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 |
|
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'- TCCTGGTTACCAAAGTAGGCAC -3'
(R):5'- GGACTGGACTATAAGCAGTTCC -3'
Sequencing Primer
(F):5'- CTGGTTACCAAAGTAGGCACATTCTC -3'
(R):5'- GACTGGACTATAAGCAGTTCCTTGAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation