Incidental Mutation 'R6751:Supt6'
ID |
530791 |
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 |
044868-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6751 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78097575-78136798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78099775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1570
(V1570A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
[ENSMUST00000060539]
[ENSMUST00000078099]
[ENSMUST00000108317]
|
AlphaFold |
Q62383 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002121
AA Change: V1570A
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000002121 Gene: ENSMUSG00000002052 AA Change: V1570A
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 |
probably benign
Transcript: ENSMUST00000060539
|
SMART Domains |
Protein: ENSMUSP00000050319 Gene: ENSMUSG00000044122
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000078099
|
SMART Domains |
Protein: ENSMUSP00000086022 Gene: ENSMUSG00000044122
Domain | Start | End | E-Value | Type |
coiled coil region
|
92 |
121 |
N/A |
INTRINSIC |
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
low complexity region
|
198 |
212 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108314
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108317
|
SMART Domains |
Protein: ENSMUSP00000103953 Gene: ENSMUSG00000044122
Domain | Start | End | E-Value | Type |
Blast:PA2c
|
33 |
99 |
2e-12 |
BLAST |
SCOP:d1poc__
|
55 |
102 |
5e-4 |
SMART |
coiled coil region
|
179 |
208 |
N/A |
INTRINSIC |
low complexity region
|
235 |
248 |
N/A |
INTRINSIC |
low complexity region
|
285 |
299 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124772
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
95% (59/62) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 137,771,971 (GRCm39) |
N387Y |
probably damaging |
Het |
Abhd17a |
T |
C |
10: 80,422,421 (GRCm39) |
E87G |
probably damaging |
Het |
Aco1 |
T |
A |
4: 40,188,330 (GRCm39) |
|
probably null |
Het |
Adcy6 |
T |
C |
15: 98,494,086 (GRCm39) |
N817S |
probably benign |
Het |
Ak8 |
T |
A |
2: 28,599,957 (GRCm39) |
L63* |
probably null |
Het |
Arhgef28 |
G |
A |
13: 98,211,755 (GRCm39) |
S76L |
probably damaging |
Het |
Asap1 |
A |
G |
15: 63,966,261 (GRCm39) |
L891S |
possibly damaging |
Het |
Cacng5 |
C |
A |
11: 107,768,379 (GRCm39) |
M209I |
probably benign |
Het |
Casr |
T |
C |
16: 36,335,950 (GRCm39) |
I120V |
probably benign |
Het |
Ccnq |
T |
C |
11: 78,641,950 (GRCm39) |
Y180C |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,833,866 (GRCm39) |
Y1207H |
probably damaging |
Het |
Chrnb2 |
A |
T |
3: 89,668,883 (GRCm39) |
F144Y |
probably damaging |
Het |
Cyp4a14 |
T |
A |
4: 115,348,391 (GRCm39) |
H362L |
probably damaging |
Het |
Dnaaf4 |
A |
G |
9: 72,869,257 (GRCm39) |
T156A |
probably benign |
Het |
Dym |
G |
A |
18: 75,419,718 (GRCm39) |
V630M |
probably damaging |
Het |
Dync2i1 |
A |
T |
12: 116,177,076 (GRCm39) |
V842E |
possibly damaging |
Het |
Dyrk1b |
C |
A |
7: 27,886,134 (GRCm39) |
P619Q |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,831,659 (GRCm39) |
D433G |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,561,086 (GRCm39) |
S1140R |
probably damaging |
Het |
Gabra5 |
T |
C |
7: 57,068,082 (GRCm39) |
R255G |
probably damaging |
Het |
Galnt17 |
T |
A |
5: 131,110,428 (GRCm39) |
I304F |
probably damaging |
Het |
Gpc5 |
A |
G |
14: 115,607,363 (GRCm39) |
S322G |
probably benign |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,610,269 (GRCm39) |
N1467Y |
probably damaging |
Het |
Ifna6 |
T |
C |
4: 88,745,987 (GRCm39) |
L112P |
probably damaging |
Het |
Ifrd1 |
C |
T |
12: 40,253,913 (GRCm39) |
|
probably null |
Het |
Il17f |
A |
G |
1: 20,849,713 (GRCm39) |
M17T |
probably benign |
Het |
Itga11 |
G |
A |
9: 62,675,866 (GRCm39) |
V892I |
probably benign |
Het |
Nckap5l |
A |
G |
15: 99,321,042 (GRCm39) |
L1246P |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,342,243 (GRCm39) |
H467Q |
probably damaging |
Het |
Ntng2 |
A |
G |
2: 29,118,055 (GRCm39) |
V131A |
possibly damaging |
Het |
Or51r1 |
G |
A |
7: 102,227,706 (GRCm39) |
M1I |
probably null |
Het |
Or8b40 |
T |
G |
9: 38,027,271 (GRCm39) |
Y60D |
probably damaging |
Het |
Or8g37 |
T |
A |
9: 39,731,193 (GRCm39) |
V86E |
probably benign |
Het |
Or8g55 |
T |
C |
9: 39,784,976 (GRCm39) |
V135A |
probably benign |
Het |
Osbpl8 |
T |
C |
10: 111,110,874 (GRCm39) |
Y459H |
possibly damaging |
Het |
Pabpc1 |
A |
T |
15: 36,597,778 (GRCm39) |
V537D |
possibly damaging |
Het |
Pde4b |
A |
T |
4: 102,459,868 (GRCm39) |
M583L |
probably damaging |
Het |
Phlda1 |
T |
C |
10: 111,342,555 (GRCm39) |
V97A |
possibly damaging |
Het |
Pik3cb |
G |
T |
9: 98,976,574 (GRCm39) |
H174Q |
probably benign |
Het |
Plxdc2 |
A |
T |
2: 16,552,952 (GRCm39) |
I117F |
probably benign |
Het |
Psapl1 |
C |
A |
5: 36,362,303 (GRCm39) |
C298* |
probably null |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Rtkn2 |
T |
A |
10: 67,877,283 (GRCm39) |
F448I |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,500,617 (GRCm39) |
R221G |
probably damaging |
Het |
Serpina3c |
A |
G |
12: 104,117,759 (GRCm39) |
L193P |
probably damaging |
Het |
Sox12 |
T |
C |
2: 152,238,678 (GRCm39) |
Y314C |
probably damaging |
Het |
Spata31h1 |
A |
G |
10: 82,119,331 (GRCm39) |
S4560P |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,067,859 (GRCm39) |
E1772G |
probably damaging |
Het |
Synrg |
T |
C |
11: 83,872,251 (GRCm39) |
F125S |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,494,919 (GRCm39) |
I1116F |
possibly damaging |
Het |
Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
Tfap2d |
C |
A |
1: 19,173,507 (GRCm39) |
H10N |
possibly damaging |
Het |
Trpm8 |
T |
C |
1: 88,312,428 (GRCm39) |
I1103T |
possibly damaging |
Het |
Vmn1r158 |
C |
T |
7: 22,489,306 (GRCm39) |
C301Y |
probably damaging |
Het |
Vmn2r56 |
T |
C |
7: 12,428,719 (GRCm39) |
I516V |
probably benign |
Het |
Vmn2r71 |
G |
A |
7: 85,269,095 (GRCm39) |
|
probably null |
Het |
Vnn3 |
C |
T |
10: 23,745,523 (GRCm39) |
R491C |
probably benign |
Het |
Vps50 |
A |
G |
6: 3,600,274 (GRCm39) |
Y911C |
probably damaging |
Het |
Zfp772 |
C |
T |
7: 7,206,716 (GRCm39) |
R325Q |
possibly damaging |
Het |
Zranb3 |
T |
A |
1: 127,887,556 (GRCm39) |
H957L |
probably benign |
Het |
Zscan20 |
G |
T |
4: 128,479,668 (GRCm39) |
T941K |
probably damaging |
Het |
Zscan25 |
T |
A |
5: 145,227,373 (GRCm39) |
F346I |
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 |
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 |
|
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 |
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'- TCCTAGGCTCAAGCATACGATG -3'
(R):5'- ACATCAATCTTGCAGGTAGGG -3'
Sequencing Primer
(F):5'- ACCGGATCTGAGTCTATGTAGGAATG -3'
(R):5'- CATCAATCTTGCAGGTAGGGTGTTTG -3'
|
Posted On |
2018-08-01 |