Incidental Mutation 'IGL02541:Supt6'
ID |
298212 |
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 # |
IGL02541
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
78097575-78136798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 78117744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 491
(R491C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
|
AlphaFold |
Q62383 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002121
AA Change: R491C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002121 Gene: ENSMUSG00000002052 AA Change: R491C
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,113,881 (GRCm39) |
L917F |
possibly damaging |
Het |
Abca6 |
A |
T |
11: 110,103,093 (GRCm39) |
W833R |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,566,265 (GRCm39) |
V406D |
probably damaging |
Het |
Bcl9l |
T |
C |
9: 44,419,066 (GRCm39) |
V968A |
probably benign |
Het |
Bend7 |
T |
C |
2: 4,768,116 (GRCm39) |
|
probably null |
Het |
Cadm2 |
C |
A |
16: 66,679,770 (GRCm39) |
G21V |
possibly damaging |
Het |
Cadm2 |
C |
A |
16: 66,679,771 (GRCm39) |
|
probably null |
Het |
Camta1 |
G |
A |
4: 151,169,112 (GRCm39) |
T1191I |
probably benign |
Het |
Cep152 |
C |
T |
2: 125,447,274 (GRCm39) |
A425T |
probably damaging |
Het |
Cep95 |
C |
A |
11: 106,706,407 (GRCm39) |
Q554K |
probably damaging |
Het |
Cgref1 |
A |
G |
5: 31,091,502 (GRCm39) |
|
probably null |
Het |
Clock |
T |
A |
5: 76,410,519 (GRCm39) |
|
probably null |
Het |
Cmc2 |
A |
G |
8: 117,620,883 (GRCm39) |
F33L |
probably benign |
Het |
Cnksr3 |
A |
G |
10: 7,085,073 (GRCm39) |
V258A |
probably damaging |
Het |
Col6a6 |
G |
T |
9: 105,609,415 (GRCm39) |
N1624K |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,120,988 (GRCm39) |
I356T |
probably benign |
Het |
Dpy19l2 |
C |
T |
9: 24,569,943 (GRCm39) |
V337I |
probably benign |
Het |
E2f3 |
A |
T |
13: 30,100,827 (GRCm39) |
|
probably null |
Het |
Eif1ad |
A |
G |
19: 5,418,445 (GRCm39) |
|
probably benign |
Het |
Fam114a2 |
A |
T |
11: 57,390,627 (GRCm39) |
D302E |
probably benign |
Het |
Fign |
T |
C |
2: 63,809,881 (GRCm39) |
N463S |
probably benign |
Het |
Fzr1 |
T |
C |
10: 81,205,867 (GRCm39) |
T220A |
probably damaging |
Het |
Gm14496 |
G |
A |
2: 181,642,186 (GRCm39) |
R619Q |
probably benign |
Het |
Gm9966 |
T |
C |
7: 95,607,991 (GRCm39) |
I104T |
unknown |
Het |
Itgb7 |
G |
T |
15: 102,131,892 (GRCm39) |
H230Q |
probably benign |
Het |
Kif7 |
T |
C |
7: 79,360,628 (GRCm39) |
H249R |
possibly damaging |
Het |
Krtap4-2 |
T |
G |
11: 99,525,792 (GRCm39) |
Q20P |
unknown |
Het |
Mis18bp1 |
T |
C |
12: 65,208,234 (GRCm39) |
T160A |
probably damaging |
Het |
Mrps9 |
T |
C |
1: 42,901,814 (GRCm39) |
|
probably null |
Het |
Mynn |
T |
A |
3: 30,665,752 (GRCm39) |
H461Q |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,562,594 (GRCm39) |
T459A |
possibly damaging |
Het |
Niban3 |
A |
T |
8: 72,055,426 (GRCm39) |
T279S |
probably benign |
Het |
Notch1 |
C |
T |
2: 26,358,515 (GRCm39) |
D1439N |
probably benign |
Het |
Or2ag2b |
A |
G |
7: 106,417,809 (GRCm39) |
E173G |
probably benign |
Het |
Pals2 |
A |
G |
6: 50,160,707 (GRCm39) |
I323V |
probably benign |
Het |
Pcdhb3 |
A |
T |
18: 37,435,198 (GRCm39) |
D388V |
probably damaging |
Het |
Pold3 |
C |
T |
7: 99,732,879 (GRCm39) |
G417S |
probably damaging |
Het |
Pwwp3a |
G |
A |
10: 80,064,273 (GRCm39) |
|
probably null |
Het |
Rad17 |
A |
G |
13: 100,769,951 (GRCm39) |
|
probably benign |
Het |
Sh3glb1 |
T |
C |
3: 144,425,801 (GRCm39) |
D5G |
probably damaging |
Het |
Shank3 |
T |
A |
15: 89,385,613 (GRCm39) |
Y167N |
probably damaging |
Het |
Slc3a2 |
A |
T |
19: 8,685,123 (GRCm39) |
Y292* |
probably null |
Het |
Slc7a13 |
T |
A |
4: 19,839,212 (GRCm39) |
|
probably benign |
Het |
Snx18 |
A |
T |
13: 113,731,302 (GRCm39) |
I564N |
probably damaging |
Het |
Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,764,032 (GRCm39) |
D511E |
probably benign |
Het |
Trio |
A |
G |
15: 27,845,016 (GRCm39) |
|
probably benign |
Het |
Trmt12 |
T |
A |
15: 58,745,651 (GRCm39) |
W350R |
probably benign |
Het |
Ttc1 |
T |
C |
11: 43,629,648 (GRCm39) |
T173A |
probably benign |
Het |
Ttc39d |
C |
A |
17: 80,523,875 (GRCm39) |
T178K |
probably damaging |
Het |
Ufl1 |
T |
A |
4: 25,250,534 (GRCm39) |
E693V |
possibly damaging |
Het |
Vamp2 |
G |
T |
11: 68,979,977 (GRCm39) |
E16D |
unknown |
Het |
Vmn2r-ps158 |
T |
A |
7: 42,673,092 (GRCm39) |
|
probably benign |
Het |
Wdr70 |
C |
T |
15: 7,913,783 (GRCm39) |
W622* |
probably null |
Het |
Zfp28 |
C |
T |
7: 6,396,479 (GRCm39) |
Q305* |
probably null |
Het |
Zfp653 |
C |
A |
9: 21,967,079 (GRCm39) |
R602L |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,763,475 (GRCm39) |
V1374E |
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 |
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 |
2015-04-16 |