Incidental Mutation 'IGL01739:Supt6'
| ID |
105795 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01739
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78097575-78136798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78113013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 977
(I977F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
|
| AlphaFold |
Q62383 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002121
AA Change: I977F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: I977F
| 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 |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
G |
T |
7: 43,906,210 (GRCm39) |
Y88* |
probably null |
Het |
| Aftph |
T |
C |
11: 20,676,994 (GRCm39) |
D205G |
probably damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,423,793 (GRCm39) |
I758V |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,591,513 (GRCm39) |
|
probably null |
Het |
| Auts2 |
T |
C |
5: 131,469,056 (GRCm39) |
T754A |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,966,216 (GRCm39) |
M4048V |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,024,870 (GRCm39) |
|
probably null |
Het |
| Cmpk1 |
C |
T |
4: 114,822,121 (GRCm39) |
A143T |
probably benign |
Het |
| Cstf2t |
C |
A |
19: 31,060,536 (GRCm39) |
P24Q |
probably damaging |
Het |
| Cwc22 |
A |
G |
2: 77,757,640 (GRCm39) |
S163P |
probably damaging |
Het |
| Dnaaf11 |
T |
A |
15: 66,321,326 (GRCm39) |
M272L |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,534,278 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
A |
4: 88,289,043 (GRCm39) |
I1279N |
unknown |
Het |
| Gp5 |
T |
C |
16: 30,127,459 (GRCm39) |
D405G |
possibly damaging |
Het |
| Guf1 |
C |
A |
5: 69,718,501 (GRCm39) |
N213K |
probably damaging |
Het |
| Hacd4 |
T |
C |
4: 88,341,285 (GRCm39) |
T145A |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,681,399 (GRCm39) |
M1005T |
probably benign |
Het |
| Mast4 |
T |
A |
13: 102,910,781 (GRCm39) |
T621S |
probably damaging |
Het |
| Mme |
T |
C |
3: 63,247,534 (GRCm39) |
M273T |
possibly damaging |
Het |
| Mos |
A |
G |
4: 3,871,816 (GRCm39) |
|
probably benign |
Het |
| Msln |
C |
T |
17: 25,969,004 (GRCm39) |
|
probably null |
Het |
| Mtg1 |
A |
T |
7: 139,730,149 (GRCm39) |
Q315L |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,105,354 (GRCm39) |
E1048G |
probably damaging |
Het |
| Ndufa9 |
C |
T |
6: 126,821,777 (GRCm39) |
G66D |
probably damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,086,333 (GRCm39) |
K44R |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,165,272 (GRCm39) |
M636K |
probably benign |
Het |
| Or12d12 |
A |
T |
17: 37,610,673 (GRCm39) |
F213L |
probably benign |
Het |
| Or5b96 |
T |
A |
19: 12,867,513 (GRCm39) |
T143S |
probably benign |
Het |
| Pde4b |
A |
T |
4: 102,458,832 (GRCm39) |
Q496L |
probably damaging |
Het |
| Plekha6 |
T |
C |
1: 133,187,869 (GRCm39) |
V130A |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,569,834 (GRCm39) |
N139S |
probably benign |
Het |
| Rbpj-ps3 |
T |
C |
6: 46,507,694 (GRCm39) |
T19A |
probably benign |
Het |
| Scai |
A |
G |
2: 38,984,803 (GRCm39) |
|
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,947,733 (GRCm39) |
T617A |
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,576,592 (GRCm39) |
M481V |
probably benign |
Het |
| Snx5 |
A |
G |
2: 144,112,325 (GRCm39) |
L8P |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,945,152 (GRCm39) |
A123T |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,114,490 (GRCm39) |
D442G |
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,068,200 (GRCm39) |
N275K |
probably benign |
Het |
| Vmn2r50 |
A |
G |
7: 9,771,364 (GRCm39) |
F779S |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,345,482 (GRCm39) |
R2574S |
probably benign |
Het |
| Zbp1 |
T |
C |
2: 173,054,038 (GRCm39) |
E161G |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation