Incidental Mutation 'R7776:Supt6'
| ID |
598909 |
| 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 |
045832-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78097575-78136798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78100355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1486
(Y1486H)
|
| 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: Y1486H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: Y1486H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,832,214 (GRCm39) |
|
probably null |
Het |
| Abca3 |
T |
A |
17: 24,605,250 (GRCm39) |
V716D |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Alkbh1 |
A |
G |
12: 87,478,215 (GRCm39) |
V232A |
probably damaging |
Het |
| Arhgef10l |
T |
A |
4: 140,302,642 (GRCm39) |
I271F |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,407,584 (GRCm39) |
M2157K |
possibly damaging |
Het |
| Capn13 |
G |
A |
17: 73,629,049 (GRCm39) |
S586L |
probably benign |
Het |
| Cd3g |
A |
T |
9: 44,885,459 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
T |
10: 92,704,603 (GRCm39) |
Y2826N |
unknown |
Het |
| Cmas |
T |
C |
6: 142,710,283 (GRCm39) |
V134A |
probably damaging |
Het |
| Cnp |
A |
G |
11: 100,469,814 (GRCm39) |
H250R |
probably damaging |
Het |
| Dact1 |
G |
A |
12: 71,364,688 (GRCm39) |
A453T |
probably benign |
Het |
| Dcaf6 |
T |
A |
1: 165,179,623 (GRCm39) |
R506* |
probably null |
Het |
| Dph1 |
A |
G |
11: 75,081,272 (GRCm39) |
V5A |
probably benign |
Het |
| Entpd3 |
A |
G |
9: 120,387,568 (GRCm39) |
Y255C |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,811,957 (GRCm39) |
T1715S |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,539,334 (GRCm39) |
H466Q |
probably damaging |
Het |
| Fbln2 |
A |
G |
6: 91,246,181 (GRCm39) |
N1056S |
probably damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,351,502 (GRCm39) |
Q250L |
possibly damaging |
Het |
| Fignl2 |
A |
G |
15: 100,951,301 (GRCm39) |
V327A |
unknown |
Het |
| Gm10226 |
T |
A |
17: 21,910,866 (GRCm39) |
C34S |
possibly damaging |
Het |
| H2bc6 |
A |
T |
13: 23,769,938 (GRCm39) |
M1K |
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,296,960 (GRCm39) |
S436P |
possibly damaging |
Het |
| Lmnb2 |
G |
T |
10: 80,753,991 (GRCm39) |
A21E |
possibly damaging |
Het |
| Mcf2l |
A |
T |
8: 12,930,127 (GRCm39) |
E49V |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,290,942 (GRCm39) |
E76G |
|
Het |
| Naa60 |
T |
C |
16: 3,718,573 (GRCm39) |
I135T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,713 (GRCm39) |
Y4924C |
possibly damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,524,656 (GRCm39) |
I275F |
probably damaging |
Het |
| Nr3c2 |
T |
C |
8: 77,636,174 (GRCm39) |
V425A |
possibly damaging |
Het |
| Nucb2 |
T |
A |
7: 116,128,248 (GRCm39) |
D286E |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,103,420 (GRCm39) |
G755S |
probably damaging |
Het |
| Or5d41 |
T |
C |
2: 88,054,429 (GRCm39) |
T316A |
probably damaging |
Het |
| Padi2 |
T |
A |
4: 140,651,656 (GRCm39) |
D135E |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,103,034 (GRCm39) |
S742R |
probably benign |
Het |
| Pcdhgb5 |
T |
A |
18: 37,866,007 (GRCm39) |
S601T |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,826,246 (GRCm39) |
N249S |
unknown |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Prr15l |
T |
C |
11: 96,825,390 (GRCm39) |
W7R |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,368 (GRCm39) |
H1431Y |
possibly damaging |
Het |
| Rnf20 |
C |
T |
4: 49,644,592 (GRCm39) |
Q286* |
probably null |
Het |
| Rptor |
T |
C |
11: 119,783,453 (GRCm39) |
I1149T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,674,086 (GRCm39) |
I80V |
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,588,033 (GRCm39) |
D497G |
probably benign |
Het |
| Slc43a1 |
T |
A |
2: 84,671,197 (GRCm39) |
M44K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,890,035 (GRCm39) |
V841E |
possibly damaging |
Het |
| Stip1 |
T |
A |
19: 6,999,141 (GRCm39) |
H479L |
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,180,282 (GRCm39) |
D324G |
probably damaging |
Het |
| Tgif1 |
T |
A |
17: 71,158,452 (GRCm39) |
|
probably benign |
Het |
| Tmprss11f |
T |
C |
5: 86,681,605 (GRCm39) |
E216G |
probably benign |
Het |
| Tmprss7 |
C |
A |
16: 45,488,014 (GRCm39) |
A472S |
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,897,939 (GRCm39) |
F1191I |
probably benign |
Het |
| Tspan12 |
T |
A |
6: 21,836,442 (GRCm39) |
N40I |
probably damaging |
Het |
| Ttll3 |
AAGTA |
AAGTACAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
| Unc13c |
A |
T |
9: 73,602,232 (GRCm39) |
I1338N |
probably damaging |
Het |
| Vegfc |
T |
A |
8: 54,530,835 (GRCm39) |
S8T |
unknown |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,634 (GRCm39) |
Q42L |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,043,934 (GRCm39) |
I337F |
probably damaging |
Het |
| Xylb |
G |
A |
9: 119,209,766 (GRCm39) |
|
probably null |
Het |
| Zfp551 |
T |
A |
7: 12,152,569 (GRCm39) |
I55F |
probably damaging |
Het |
| Zfp972 |
T |
C |
2: 177,563,532 (GRCm39) |
N27S |
probably benign |
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 |
|
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 |
|
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'- TGACTTCACCTCACTGAGCC -3'
(R):5'- ATGTTTATTTGGTGGCCACAGC -3'
Sequencing Primer
(F):5'- ACTGAGCCAGGACCTGTGTTG -3'
(R):5'- CCTTTCGCGAAAAGCTGATTCAGAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation