Incidental Mutation 'R9414:Supt20'
| ID |
711927 |
| 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 # |
R9414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
54600228-54636187 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54610504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 103
(I103N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131454
(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: I103N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131454
Gene: ENSMUSG00000027751
AA Change: I103N
| 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: I102N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
AA Change: I102N
| 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: I102N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142648
Gene: ENSMUSG00000027751
AA Change: I102N
| 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: ENSMUST00000199655
AA Change: I102N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143520
Gene: ENSMUSG00000027751
AA Change: I102N
| 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: I102N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
AA Change: I102N
| 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: I102N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
AA Change: I102N
| 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: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
98% (59/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,035,100 (GRCm39) |
I689K |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,609,902 (GRCm39) |
T1076K |
probably damaging |
Het |
| Ammecr1l |
A |
G |
18: 31,904,962 (GRCm39) |
T68A |
probably benign |
Het |
| Arvcf |
A |
G |
16: 18,215,580 (GRCm39) |
E264G |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,538,514 (GRCm39) |
D1542N |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,392,395 (GRCm39) |
T512A |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,925,356 (GRCm39) |
C1213R |
probably damaging |
Het |
| Cybrd1 |
G |
T |
2: 70,948,567 (GRCm39) |
R35L |
probably damaging |
Het |
| Dcaf1 |
G |
A |
9: 106,757,158 (GRCm39) |
W1412* |
probably null |
Het |
| Eif4e |
T |
A |
3: 138,253,495 (GRCm39) |
D67E |
probably benign |
Het |
| Epb41 |
G |
A |
4: 131,702,162 (GRCm39) |
T491I |
probably damaging |
Het |
| Fez1 |
G |
A |
9: 36,779,247 (GRCm39) |
S308N |
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,887,298 (GRCm39) |
S206G |
possibly damaging |
Het |
| Flcn |
A |
T |
11: 59,684,998 (GRCm39) |
N484K |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,090,071 (GRCm39) |
|
probably null |
Het |
| Gfpt1 |
T |
A |
6: 87,062,265 (GRCm39) |
D541E |
probably benign |
Het |
| Gm5089 |
A |
G |
14: 122,673,604 (GRCm39) |
F39S |
unknown |
Het |
| Gm7694 |
C |
T |
1: 170,130,173 (GRCm39) |
G75D |
probably benign |
Het |
| Gpr15 |
A |
G |
16: 58,538,516 (GRCm39) |
L191S |
probably benign |
Het |
| Hmcn1 |
T |
G |
1: 150,545,187 (GRCm39) |
T2807P |
probably damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,783,349 (GRCm39) |
T1276A |
|
Het |
| Itgae |
G |
T |
11: 73,002,629 (GRCm39) |
A129S |
possibly damaging |
Het |
| Kcns1 |
T |
C |
2: 164,010,378 (GRCm39) |
E127G |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,282,307 (GRCm39) |
E1118G |
probably damaging |
Het |
| Lair1 |
T |
C |
7: 4,013,819 (GRCm39) |
I143V |
probably benign |
Het |
| Lcmt2 |
T |
C |
2: 120,970,621 (GRCm39) |
D154G |
possibly damaging |
Het |
| Ly9 |
T |
C |
1: 171,427,275 (GRCm39) |
T427A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,044,030 (GRCm39) |
T281A |
possibly damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,515 (GRCm39) |
F332L |
probably benign |
Het |
| Meak7 |
A |
T |
8: 120,495,081 (GRCm39) |
S226T |
probably benign |
Het |
| Mmp10 |
A |
T |
9: 7,502,489 (GRCm39) |
D32V |
probably benign |
Het |
| Mroh2a |
C |
T |
1: 88,179,096 (GRCm39) |
R1110W |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Npnt |
T |
C |
3: 132,612,116 (GRCm39) |
N300S |
probably benign |
Het |
| Or13a20 |
C |
A |
7: 140,232,263 (GRCm39) |
R124S |
probably damaging |
Het |
| Or5b95 |
T |
C |
19: 12,657,712 (GRCm39) |
V80A |
probably benign |
Het |
| Or5k15 |
G |
A |
16: 58,710,565 (GRCm39) |
T6I |
probably benign |
Het |
| Pacsin1 |
T |
C |
17: 27,926,985 (GRCm39) |
V387A |
probably damaging |
Het |
| Pald1 |
G |
T |
10: 61,178,932 (GRCm39) |
A489E |
probably benign |
Het |
| Pcnx1 |
G |
T |
12: 81,964,978 (GRCm39) |
G382W |
probably damaging |
Het |
| Pde6b |
T |
A |
5: 108,567,592 (GRCm39) |
M294K |
possibly damaging |
Het |
| Phf20 |
T |
C |
2: 156,136,167 (GRCm39) |
V662A |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,603,276 (GRCm39) |
I1149T |
possibly damaging |
Het |
| Prdx2 |
T |
C |
8: 85,697,196 (GRCm39) |
S79P |
probably damaging |
Het |
| Rab19 |
T |
C |
6: 39,360,855 (GRCm39) |
M1T |
probably null |
Het |
| Retn |
T |
G |
8: 3,706,908 (GRCm39) |
F44C |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,313,841 (GRCm39) |
W507R |
unknown |
Het |
| Rsf1 |
A |
C |
7: 97,313,765 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
C |
T |
2: 112,501,011 (GRCm39) |
E3561K |
possibly damaging |
Het |
| Scaf1 |
T |
A |
7: 44,652,716 (GRCm39) |
Y1220F |
unknown |
Het |
| Sowahc |
A |
G |
10: 59,058,491 (GRCm39) |
K209R |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,367 (GRCm39) |
E2498G |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,674,935 (GRCm39) |
N1047S |
probably benign |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tub |
T |
A |
7: 108,626,265 (GRCm39) |
I267N |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,223,507 (GRCm39) |
E594G |
probably benign |
Het |
| Vmn2r104 |
T |
A |
17: 20,250,250 (GRCm39) |
I674F |
probably damaging |
Het |
| Zbed6 |
T |
C |
1: 133,585,015 (GRCm39) |
D774G |
probably damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,964 (GRCm39) |
S215P |
probably benign |
Het |
| Zfc3h1 |
T |
G |
10: 115,249,916 (GRCm39) |
S1177A |
possibly damaging |
Het |
| Zfp646 |
G |
A |
7: 127,481,050 (GRCm39) |
A1076T |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,023 (GRCm39) |
Y322* |
probably null |
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 |
|
|
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'- ATGAGACTAAGCCTTTGAGCTGTG -3'
(R):5'- TAACCAGTGCCACAAAAGGG -3'
Sequencing Primer
(F):5'- AGTTCCAGTCACTTATGAGCTG -3'
(R):5'- GGCTGGCTTCAAACTTCCTTAAGATG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation