Incidental Mutation 'R2098:Supt6'
ID |
230383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Supt6
|
Ensembl Gene |
ENSMUSG00000002052 |
Gene Name |
SPT6, histone chaperone and transcription elongation factor |
Synonyms |
SPT6, 5131400N11Rik, Supt6h |
MMRRC Submission |
040102-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2098 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
78097575-78136798 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 78104087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
|
AlphaFold |
Q62383 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002121
|
SMART Domains |
Protein: ENSMUSP00000002121 Gene: ENSMUSG00000002052
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,927,405 (GRCm39) |
E1316G |
probably damaging |
Het |
Arhgap32 |
C |
A |
9: 32,171,207 (GRCm39) |
T1329K |
probably damaging |
Het |
Arhgef10l |
G |
C |
4: 140,306,743 (GRCm39) |
L104V |
probably damaging |
Het |
Bend3 |
T |
C |
10: 43,386,500 (GRCm39) |
S298P |
probably damaging |
Het |
Cacna1b |
C |
T |
2: 24,540,558 (GRCm39) |
V1385M |
probably damaging |
Het |
Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
Cd84 |
G |
A |
1: 171,713,148 (GRCm39) |
C291Y |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,863,457 (GRCm39) |
I113V |
probably benign |
Het |
Cfap206 |
G |
A |
4: 34,719,053 (GRCm39) |
Q318* |
probably null |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Cyth1 |
T |
A |
11: 118,084,479 (GRCm39) |
I25F |
probably damaging |
Het |
Dock2 |
A |
T |
11: 34,216,279 (GRCm39) |
N1208K |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,609,832 (GRCm39) |
S203P |
probably damaging |
Het |
Ehbp1l1 |
G |
T |
19: 5,758,686 (GRCm39) |
T1652K |
possibly damaging |
Het |
Eps8l2 |
G |
A |
7: 140,935,705 (GRCm39) |
|
probably null |
Het |
Fam3d |
T |
C |
14: 8,361,479 (GRCm38) |
I47V |
probably benign |
Het |
Gm10250 |
A |
G |
15: 5,150,296 (GRCm39) |
|
probably benign |
Het |
Gm9772 |
T |
C |
17: 22,225,618 (GRCm39) |
H94R |
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,247,420 (GRCm39) |
G1184D |
probably damaging |
Het |
Igfn1 |
T |
A |
1: 135,906,043 (GRCm39) |
D255V |
probably damaging |
Het |
Marf1 |
T |
C |
16: 13,932,064 (GRCm39) |
H1651R |
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,167,464 (GRCm39) |
V385A |
possibly damaging |
Het |
Mmp1b |
G |
A |
9: 7,386,984 (GRCm39) |
S76L |
probably benign |
Het |
Mrps2 |
C |
A |
2: 28,358,327 (GRCm39) |
T39K |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,188,808 (GRCm39) |
Y715H |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,441,055 (GRCm39) |
E392G |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,960,817 (GRCm39) |
E3374K |
probably damaging |
Het |
Or2a20 |
G |
A |
6: 43,194,437 (GRCm39) |
V197I |
probably benign |
Het |
Or4c11 |
A |
T |
2: 88,695,215 (GRCm39) |
I89F |
probably benign |
Het |
Or56a4 |
A |
G |
7: 104,806,478 (GRCm39) |
V137A |
probably benign |
Het |
Or5w13 |
A |
T |
2: 87,524,073 (GRCm39) |
M51K |
probably benign |
Het |
Pkd2 |
C |
T |
5: 104,626,768 (GRCm39) |
P317S |
probably damaging |
Het |
Prl5a1 |
T |
C |
13: 28,329,488 (GRCm39) |
S56P |
probably damaging |
Het |
Psmd1 |
A |
G |
1: 86,009,823 (GRCm39) |
|
probably null |
Het |
Ptchd3 |
T |
C |
11: 121,733,305 (GRCm39) |
C732R |
probably damaging |
Het |
Rad51c |
A |
T |
11: 87,293,589 (GRCm39) |
V71E |
probably benign |
Het |
Scn11a |
A |
T |
9: 119,621,560 (GRCm39) |
I619K |
possibly damaging |
Het |
Sgpp1 |
T |
G |
12: 75,763,284 (GRCm39) |
D299A |
probably damaging |
Het |
Slc16a4 |
C |
A |
3: 107,208,163 (GRCm39) |
Y224* |
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,378,175 (GRCm39) |
S167L |
probably damaging |
Het |
Slc6a5 |
T |
C |
7: 49,595,315 (GRCm39) |
I559T |
probably damaging |
Het |
Spire1 |
A |
G |
18: 67,636,536 (GRCm39) |
F364L |
probably damaging |
Het |
Srek1 |
G |
A |
13: 103,881,363 (GRCm39) |
T421I |
unknown |
Het |
St8sia4 |
T |
C |
1: 95,581,253 (GRCm39) |
H163R |
probably damaging |
Het |
Tas2r103 |
T |
C |
6: 133,013,560 (GRCm39) |
T169A |
probably benign |
Het |
Thrap3 |
A |
G |
4: 126,073,823 (GRCm39) |
S308P |
probably damaging |
Het |
V1rd19 |
C |
T |
7: 23,703,160 (GRCm39) |
L209F |
probably damaging |
Het |
Zfp267 |
T |
A |
3: 36,220,289 (GRCm39) |
S771T |
probably benign |
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 |
IGL02991:Supt6
|
UTSW |
11 |
78,116,179 (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 |
|
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'- ATGATACCAATGAGGCGTTAGC -3'
(R):5'- TTCACTGCCGGATCATGAAG -3'
Sequencing Primer
(F):5'- GCGTTAGCCTCAGTTCTTATGCTG -3'
(R):5'- GATCGATATTGAAAAGTTCAGTGCAG -3'
|
Posted On |
2014-09-18 |