Incidental Mutation 'R7259:Supt6'
| ID |
564494 |
| 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 |
045351-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7259 (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 T
at 78098442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1716
(D1716E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
[ENSMUST00000060539]
[ENSMUST00000078099]
[ENSMUST00000108317]
|
| AlphaFold |
Q62383 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002121
AA Change: D1716E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: D1716E
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0888 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
G |
13: 8,620,288 (GRCm39) |
Y258C |
probably benign |
Het |
| Aebp2 |
A |
G |
6: 140,579,494 (GRCm39) |
S244G |
probably benign |
Het |
| Agl |
A |
T |
3: 116,578,230 (GRCm39) |
Y495N |
probably damaging |
Het |
| Arhgap33 |
A |
G |
7: 30,231,625 (GRCm39) |
V120A |
probably damaging |
Het |
| Asb14 |
C |
T |
14: 26,625,412 (GRCm39) |
H256Y |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,604,132 (GRCm39) |
Y434H |
probably benign |
Het |
| Atrnl1 |
C |
T |
19: 57,924,038 (GRCm39) |
R1268* |
probably null |
Het |
| AW554918 |
A |
G |
18: 25,422,906 (GRCm39) |
|
probably null |
Het |
| Canx |
A |
G |
11: 50,192,643 (GRCm39) |
W324R |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,224,424 (GRCm39) |
E202G |
unknown |
Het |
| Crh |
C |
A |
3: 19,748,418 (GRCm39) |
A75S |
possibly damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,817,299 (GRCm39) |
|
probably null |
Het |
| Dmrta2 |
T |
A |
4: 109,839,104 (GRCm39) |
S284T |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,384,477 (GRCm39) |
V680A |
probably damaging |
Het |
| Duox2 |
G |
A |
2: 122,125,657 (GRCm39) |
R317C |
probably damaging |
Het |
| Elmod2 |
A |
G |
8: 84,048,138 (GRCm39) |
L108P |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,825,792 (GRCm39) |
S540P |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,812,474 (GRCm39) |
A2931V |
possibly damaging |
Het |
| Gipc2 |
A |
T |
3: 151,833,693 (GRCm39) |
I196K |
probably damaging |
Het |
| Gli2 |
A |
G |
1: 118,764,264 (GRCm39) |
S1296P |
probably benign |
Het |
| Gm21103 |
T |
A |
14: 17,482,882 (GRCm39) |
Q173L |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,986,546 (GRCm39) |
|
probably null |
Het |
| Grm8 |
G |
A |
6: 27,760,175 (GRCm39) |
T385I |
probably null |
Het |
| Gtf2f1 |
C |
A |
17: 57,311,562 (GRCm39) |
D283Y |
probably damaging |
Het |
| Hcar1 |
T |
A |
5: 124,017,275 (GRCm39) |
T139S |
possibly damaging |
Het |
| Hcrtr1 |
T |
A |
4: 130,029,611 (GRCm39) |
T157S |
possibly damaging |
Het |
| Htra2 |
T |
G |
6: 83,028,520 (GRCm39) |
Q436P |
possibly damaging |
Het |
| Igkv1-133 |
A |
G |
6: 67,702,522 (GRCm39) |
D80G |
probably benign |
Het |
| Il21 |
C |
A |
3: 37,281,803 (GRCm39) |
|
probably null |
Het |
| Inpp5f |
T |
A |
7: 128,271,681 (GRCm39) |
C359S |
probably benign |
Het |
| Itgb6 |
A |
T |
2: 60,480,355 (GRCm39) |
I327N |
probably damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,081,316 (GRCm39) |
T232S |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,001,532 (GRCm39) |
K266* |
probably null |
Het |
| Mcm10 |
C |
A |
2: 5,011,328 (GRCm39) |
E214D |
probably benign |
Het |
| Mefv |
T |
A |
16: 3,530,917 (GRCm39) |
I522F |
probably damaging |
Het |
| Naaladl2 |
T |
A |
3: 24,112,340 (GRCm39) |
I581F |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,440,863 (GRCm39) |
Y306N |
probably damaging |
Het |
| Opn1sw |
T |
A |
6: 29,378,911 (GRCm39) |
H247L |
probably benign |
Het |
| Or4c119 |
A |
C |
2: 88,986,854 (GRCm39) |
F222V |
probably benign |
Het |
| Or51v15-ps1 |
A |
T |
7: 103,278,966 (GRCm39) |
M67K |
probably damaging |
Het |
| Or5k1b |
T |
C |
16: 58,580,868 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or6c68 |
T |
A |
10: 129,157,663 (GRCm39) |
M57K |
probably benign |
Het |
| Pbxip1 |
C |
A |
3: 89,352,940 (GRCm39) |
F195L |
probably benign |
Het |
| Pcdh12 |
A |
T |
18: 38,414,677 (GRCm39) |
F816Y |
probably benign |
Het |
| Pi4k2b |
C |
A |
5: 52,910,587 (GRCm39) |
N290K |
probably damaging |
Het |
| Pias2 |
T |
C |
18: 77,240,416 (GRCm39) |
S598P |
possibly damaging |
Het |
| Ppfia4 |
A |
G |
1: 134,240,838 (GRCm39) |
V835A |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
| Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
| Scg2 |
T |
C |
1: 79,414,702 (GRCm39) |
Y7C |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,331,604 (GRCm39) |
V137A |
probably benign |
Het |
| Setdb1 |
G |
A |
3: 95,247,224 (GRCm39) |
T525I |
probably benign |
Het |
| Sgcg |
A |
T |
14: 61,462,666 (GRCm39) |
I227N |
probably benign |
Het |
| Slc35e4 |
A |
T |
11: 3,862,530 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
C |
T |
19: 26,631,864 (GRCm39) |
Q560* |
probably null |
Het |
| Stk10 |
A |
G |
11: 32,548,497 (GRCm39) |
N355S |
probably benign |
Het |
| Taok3 |
C |
T |
5: 117,390,608 (GRCm39) |
A523V |
probably benign |
Het |
| Tekt3 |
A |
G |
11: 62,974,592 (GRCm39) |
T304A |
possibly damaging |
Het |
| Ttc6 |
G |
T |
12: 57,622,970 (GRCm39) |
R123L |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,296,713 (GRCm39) |
|
probably null |
Het |
| Ulk2 |
A |
G |
11: 61,672,909 (GRCm39) |
L895P |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,424,645 (GRCm39) |
N1990K |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wipf1 |
A |
G |
2: 73,265,425 (GRCm39) |
S393P |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,986,946 (GRCm39) |
S184G |
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 |
|
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 |
|
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'- AACAGGTGGTTAGCACAAGC -3'
(R):5'- GAGACTTACCCTTTGTGTTCCAGG -3'
Sequencing Primer
(F):5'- TTAGCACAAGCCCGGAGTG -3'
(R):5'- TGTGTTCCAGGTCCAACAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation