Incidental Mutation 'IGL02991:Supt6'
| ID |
452937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supt6
|
| Ensembl Gene |
ENSMUSG00000002052 |
| Gene Name |
SPT6, histone chaperone and transcription elongation factor |
| Synonyms |
SPT6, 5131400N11Rik, Supt6h |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02991 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78097575-78136798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78116179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 728
(E728G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
|
| AlphaFold |
Q62383 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002121
AA Change: E728G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: E728G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Pfam:SPT6_acidic
|
37 |
127 |
8.8e-19 |
PFAM |
|
low complexity region
|
146 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
267 |
N/A |
INTRINSIC |
|
Pfam:HTH_44
|
305 |
432 |
1.3e-28 |
PFAM |
|
low complexity region
|
494 |
509 |
N/A |
INTRINSIC |
|
YqgFc
|
779 |
894 |
4.27e-21 |
SMART |
|
Pfam:HHH_7
|
935 |
1038 |
3.1e-55 |
PFAM |
|
Pfam:HHH_3
|
966 |
1036 |
5.2e-10 |
PFAM |
|
Pfam:DLD
|
1051 |
1159 |
6.8e-39 |
PFAM |
|
S1
|
1221 |
1282 |
2.8e-3 |
SMART |
|
SH2
|
1332 |
1421 |
4.12e-11 |
SMART |
|
low complexity region
|
1441 |
1454 |
N/A |
INTRINSIC |
|
Blast:SH2
|
1455 |
1517 |
9e-19 |
BLAST |
|
low complexity region
|
1586 |
1599 |
N/A |
INTRINSIC |
|
low complexity region
|
1639 |
1664 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108314
|
| Meta Mutation Damage Score |
0.4226 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
95% (73/77) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality during pre-implantation development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Adam23 |
T |
C |
1: 63,586,978 (GRCm39) |
|
probably null |
Het |
| Aptx |
C |
A |
4: 40,686,687 (GRCm39) |
G199C |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,299,294 (GRCm39) |
|
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,881,140 (GRCm39) |
T566A |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,348,713 (GRCm39) |
Q202* |
probably null |
Het |
| Cacna1h |
C |
A |
17: 25,610,286 (GRCm39) |
R740L |
possibly damaging |
Het |
| Casp8 |
T |
A |
1: 58,866,438 (GRCm39) |
N146K |
probably benign |
Het |
| Ccdc63 |
T |
C |
5: 122,246,275 (GRCm39) |
M549V |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,861,972 (GRCm39) |
S51P |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,828,398 (GRCm39) |
M1113T |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
ACC |
AC |
1: 139,164,822 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Cxcl11 |
C |
T |
5: 92,509,169 (GRCm39) |
R28H |
probably damaging |
Het |
| Defb40 |
C |
T |
8: 19,025,119 (GRCm39) |
C29Y |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Fen1 |
A |
T |
19: 10,178,026 (GRCm39) |
D139E |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,395,511 (GRCm39) |
E1846G |
probably damaging |
Het |
| Gria2 |
T |
A |
3: 80,615,116 (GRCm39) |
K455* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,614,409 (GRCm39) |
N1332K |
possibly damaging |
Het |
| Htr5b |
C |
T |
1: 121,455,756 (GRCm39) |
V55M |
probably benign |
Het |
| Ighv6-5 |
A |
T |
12: 114,380,315 (GRCm39) |
N86K |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,174,833 (GRCm39) |
V347A |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,256,162 (GRCm39) |
E876G |
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,155,279 (GRCm39) |
|
probably benign |
Het |
| Lbr |
T |
C |
1: 181,649,117 (GRCm39) |
Y334C |
probably damaging |
Het |
| Lrfn2 |
T |
C |
17: 49,377,732 (GRCm39) |
L271P |
probably damaging |
Het |
| Lss |
T |
A |
10: 76,379,745 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,132,091 (GRCm39) |
V731A |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mob3b |
T |
A |
4: 35,083,805 (GRCm39) |
Q128L |
probably benign |
Het |
| Mog |
T |
C |
17: 37,334,091 (GRCm39) |
M1V |
probably null |
Het |
| Mrpl4 |
A |
G |
9: 20,919,901 (GRCm39) |
Y284C |
probably damaging |
Het |
| Mtus2 |
T |
G |
5: 148,250,310 (GRCm39) |
V310G |
probably damaging |
Het |
| Mup11 |
ACAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCA |
4: 60,618,275 (GRCm39) |
|
probably benign |
Het |
| Odad4 |
A |
G |
11: 100,444,698 (GRCm39) |
S285G |
probably benign |
Het |
| Or10g9 |
T |
C |
9: 39,911,698 (GRCm39) |
Y275C |
probably damaging |
Het |
| Or8g55 |
T |
A |
9: 39,785,362 (GRCm39) |
S264T |
probably benign |
Het |
| Orc3 |
T |
G |
4: 34,593,083 (GRCm39) |
Q328P |
probably damaging |
Het |
| Otulinl |
T |
C |
15: 27,658,388 (GRCm39) |
S211G |
possibly damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,264 (GRCm39) |
G597C |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,675,260 (GRCm39) |
I334T |
probably damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Proz |
G |
A |
8: 13,123,490 (GRCm39) |
E254K |
probably benign |
Het |
| Psma6 |
T |
C |
12: 55,454,357 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,776,192 (GRCm39) |
V1115A |
probably damaging |
Het |
| Sfxn5 |
G |
T |
6: 85,266,190 (GRCm39) |
N102K |
possibly damaging |
Het |
| Sgo2a |
G |
T |
1: 58,054,514 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
A |
T |
18: 78,249,049 (GRCm39) |
M1K |
probably null |
Het |
| Spag5 |
T |
A |
11: 78,205,077 (GRCm39) |
L621M |
probably damaging |
Het |
| Spata31 |
A |
G |
13: 65,068,533 (GRCm39) |
Y227C |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sympk |
T |
A |
7: 18,764,502 (GRCm39) |
L69Q |
probably damaging |
Het |
| Timd4 |
T |
A |
11: 46,732,974 (GRCm39) |
|
probably benign |
Het |
| Trh |
G |
A |
6: 92,220,719 (GRCm39) |
R48W |
probably damaging |
Het |
| Trip12 |
C |
A |
1: 84,716,536 (GRCm39) |
D383Y |
probably damaging |
Het |
| Tspo2 |
T |
A |
17: 48,757,014 (GRCm39) |
I23F |
possibly damaging |
Het |
| Tspyl5 |
A |
G |
15: 33,686,989 (GRCm39) |
S319P |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,717,201 (GRCm39) |
K403E |
probably damaging |
Het |
| Vmn2r34 |
C |
A |
7: 7,675,720 (GRCm39) |
C556F |
probably damaging |
Het |
| Vps13c |
C |
A |
9: 67,821,159 (GRCm39) |
A1223E |
probably damaging |
Het |
|
| Other mutations in Supt6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Supt6
|
APN |
11 |
78,122,007 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01457:Supt6
|
APN |
11 |
78,111,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Supt6
|
APN |
11 |
78,116,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01739:Supt6
|
APN |
11 |
78,113,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01765:Supt6
|
APN |
11 |
78,112,985 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01894:Supt6
|
APN |
11 |
78,113,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01952:Supt6
|
APN |
11 |
78,116,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02067:Supt6
|
APN |
11 |
78,121,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02244:Supt6
|
APN |
11 |
78,123,623 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02267:Supt6
|
APN |
11 |
78,117,030 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02379:Supt6
|
APN |
11 |
78,116,195 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02541:Supt6
|
APN |
11 |
78,117,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02635:Supt6
|
APN |
11 |
78,103,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03347:Supt6
|
APN |
11 |
78,123,011 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02980:Supt6
|
UTSW |
11 |
78,116,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Supt6
|
UTSW |
11 |
78,099,062 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0371:Supt6
|
UTSW |
11 |
78,113,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0452:Supt6
|
UTSW |
11 |
78,117,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:Supt6
|
UTSW |
11 |
78,107,164 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0616:Supt6
|
UTSW |
11 |
78,100,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0653:Supt6
|
UTSW |
11 |
78,116,841 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0788:Supt6
|
UTSW |
11 |
78,098,598 (GRCm39) |
unclassified |
probably benign |
|
|
R1103:Supt6
|
UTSW |
11 |
78,116,299 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1282:Supt6
|
UTSW |
11 |
78,119,594 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1460:Supt6
|
UTSW |
11 |
78,113,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1508:Supt6
|
UTSW |
11 |
78,107,029 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1850:Supt6
|
UTSW |
11 |
78,110,703 (GRCm39) |
splice site |
probably benign |
|
|
R1854:Supt6
|
UTSW |
11 |
78,123,366 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1855:Supt6
|
UTSW |
11 |
78,123,366 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2054:Supt6
|
UTSW |
11 |
78,115,187 (GRCm39) |
splice site |
probably benign |
|
|
R2098:Supt6
|
UTSW |
11 |
78,104,087 (GRCm39) |
splice site |
probably null |
|
|
R2146:Supt6
|
UTSW |
11 |
78,121,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Supt6
|
UTSW |
11 |
78,098,993 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4621:Supt6
|
UTSW |
11 |
78,103,572 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4734:Supt6
|
UTSW |
11 |
78,115,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4825:Supt6
|
UTSW |
11 |
78,098,960 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5575:Supt6
|
UTSW |
11 |
78,119,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5789:Supt6
|
UTSW |
11 |
78,124,412 (GRCm39) |
missense |
unknown |
|
|
R5889:Supt6
|
UTSW |
11 |
78,103,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6296:Supt6
|
UTSW |
11 |
78,116,885 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6297:Supt6
|
UTSW |
11 |
78,116,885 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6394:Supt6
|
UTSW |
11 |
78,121,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Supt6
|
UTSW |
11 |
78,122,626 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6737:Supt6
|
UTSW |
11 |
78,122,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6751:Supt6
|
UTSW |
11 |
78,099,775 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6853:Supt6
|
UTSW |
11 |
78,123,656 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7213:Supt6
|
UTSW |
11 |
78,122,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Supt6
|
UTSW |
11 |
78,098,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7609:Supt6
|
UTSW |
11 |
78,117,777 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7776:Supt6
|
UTSW |
11 |
78,100,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8683:Supt6
|
UTSW |
11 |
78,108,727 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8895:Supt6
|
UTSW |
11 |
78,103,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9097:Supt6
|
UTSW |
11 |
78,113,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9175:Supt6
|
UTSW |
11 |
78,112,052 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9228:Supt6
|
UTSW |
11 |
78,116,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9311:Supt6
|
UTSW |
11 |
78,116,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Supt6
|
UTSW |
11 |
78,120,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Supt6
|
UTSW |
11 |
78,120,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Supt6
|
UTSW |
11 |
78,108,767 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0067:Supt6
|
UTSW |
11 |
78,123,501 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Supt6
|
UTSW |
11 |
78,102,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAAGGTAACCTTGACCTTCAC -3'
(R):5'- TCTGTCAGAACCAGAGCTTTG -3'
Sequencing Primer
(F):5'- AGGTAACCTTGACCTTCACATATCTG -3'
(R):5'- CCAGAGCTTTGTATATTTCTTCAGG -3'
|
| Posted On |
2017-01-24 |
Incidental Mutation