Incidental Mutation 'IGL02379:Supt6'
| ID |
291268 |
| 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 # |
IGL02379
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78097575-78136798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78116195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 723
(V723M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
|
| AlphaFold |
Q62383 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002121
AA Change: V723M
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: V723M
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,760,106 (GRCm39) |
I996F |
probably damaging |
Het |
| Adamts9 |
T |
A |
6: 92,774,014 (GRCm39) |
D1133V |
probably damaging |
Het |
| Adi1 |
T |
A |
12: 28,729,466 (GRCm39) |
D106E |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,572,740 (GRCm39) |
F837S |
probably damaging |
Het |
| Alb |
T |
A |
5: 90,613,738 (GRCm39) |
D207E |
probably benign |
Het |
| Alms1 |
T |
G |
6: 85,606,615 (GRCm39) |
V2286G |
probably damaging |
Het |
| Alpl |
G |
A |
4: 137,469,869 (GRCm39) |
A485V |
probably damaging |
Het |
| Antxrl |
C |
A |
14: 33,778,492 (GRCm39) |
|
probably null |
Het |
| Apc |
C |
T |
18: 34,431,798 (GRCm39) |
T417I |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,312,799 (GRCm39) |
D390G |
probably damaging |
Het |
| Asph |
G |
A |
4: 9,474,980 (GRCm39) |
P582S |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,992,980 (GRCm39) |
L825Q |
probably benign |
Het |
| Bhlha15 |
T |
A |
5: 144,128,159 (GRCm39) |
N90K |
probably damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,552,835 (GRCm39) |
Y1043F |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,635,242 (GRCm39) |
D47G |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,627,619 (GRCm39) |
M451L |
probably benign |
Het |
| Csnk1g3 |
T |
C |
18: 54,066,564 (GRCm39) |
S346P |
probably benign |
Het |
| Cspg4 |
G |
T |
9: 56,799,893 (GRCm39) |
|
probably benign |
Het |
| Ctr9 |
A |
G |
7: 110,650,726 (GRCm39) |
K884E |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,471,556 (GRCm39) |
C813* |
probably null |
Het |
| Fn3k |
A |
T |
11: 121,325,950 (GRCm39) |
T46S |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,121,282 (GRCm39) |
R89G |
probably benign |
Het |
| Gpr174 |
T |
C |
X: 106,337,084 (GRCm39) |
F299L |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,706,266 (GRCm39) |
D312G |
probably damaging |
Het |
| Il36b |
A |
G |
2: 24,044,650 (GRCm39) |
S17G |
probably benign |
Het |
| Kcna5 |
G |
T |
6: 126,511,472 (GRCm39) |
P219T |
probably damaging |
Het |
| Kcnh2 |
A |
C |
5: 24,531,636 (GRCm39) |
V425G |
probably damaging |
Het |
| Klk1b5 |
A |
G |
7: 43,500,246 (GRCm39) |
N278S |
probably damaging |
Het |
| Mars2 |
T |
A |
1: 55,277,212 (GRCm39) |
W272R |
probably damaging |
Het |
| Msl3l2 |
C |
A |
10: 55,992,017 (GRCm39) |
S247R |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,216,925 (GRCm39) |
E1144G |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,357,688 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,644 (GRCm39) |
K743E |
probably damaging |
Het |
| Nyap2 |
C |
T |
1: 81,065,147 (GRCm39) |
T53I |
probably damaging |
Het |
| Odad4 |
A |
T |
11: 100,457,809 (GRCm39) |
N471Y |
possibly damaging |
Het |
| Or10ag58 |
T |
C |
2: 87,265,668 (GRCm39) |
V279A |
probably benign |
Het |
| Or52z12 |
T |
C |
7: 103,234,099 (GRCm39) |
V290A |
possibly damaging |
Het |
| Peli2 |
A |
G |
14: 48,405,755 (GRCm39) |
H60R |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,232,844 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,022,529 (GRCm39) |
D1157G |
probably damaging |
Het |
| Pip4k2a |
C |
T |
2: 18,870,922 (GRCm39) |
|
probably null |
Het |
| Raf1 |
A |
T |
6: 115,621,509 (GRCm39) |
D23E |
probably benign |
Het |
| Rhox10 |
G |
A |
X: 37,155,733 (GRCm39) |
R87H |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,376,345 (GRCm39) |
T449A |
possibly damaging |
Het |
| Serpina3a |
T |
A |
12: 104,084,919 (GRCm39) |
S105T |
probably benign |
Het |
| Slc12a9 |
T |
G |
5: 137,319,691 (GRCm39) |
Q608P |
probably damaging |
Het |
| Smg6 |
C |
A |
11: 74,944,751 (GRCm39) |
P167T |
probably damaging |
Het |
| Spata7 |
C |
T |
12: 98,600,519 (GRCm39) |
T44I |
probably damaging |
Het |
| Spink12 |
C |
T |
18: 44,239,575 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stag2 |
C |
T |
X: 41,339,474 (GRCm39) |
T754I |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,778,832 (GRCm39) |
D614G |
possibly damaging |
Het |
| Vps39 |
T |
A |
2: 120,154,089 (GRCm39) |
K624N |
probably benign |
Het |
| Vwa5b1 |
A |
T |
4: 138,340,170 (GRCm39) |
L29Q |
probably damaging |
Het |
| Wtap |
G |
A |
17: 13,188,336 (GRCm39) |
A188V |
probably benign |
Het |
| Zc3hc1 |
A |
G |
6: 30,390,974 (GRCm39) |
F5L |
probably benign |
Het |
| Zfp655 |
C |
T |
5: 145,180,765 (GRCm39) |
P208S |
probably benign |
Het |
| Zswim3 |
A |
T |
2: 164,662,602 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation