Incidental Mutation 'R2054:Supt6'
ID |
226532 |
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 |
040059-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2054 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78097575-78136798 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 78115187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
|
AlphaFold |
Q62383 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002121
|
SMART Domains |
Protein: ENSMUSP00000002121 Gene: ENSMUSG00000002052
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
99% (67/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
T |
11: 99,728,562 (GRCm39) |
C94S |
possibly damaging |
Het |
A930011G23Rik |
T |
C |
5: 99,375,914 (GRCm39) |
Y432C |
probably benign |
Het |
Abtb2 |
A |
G |
2: 103,535,462 (GRCm39) |
D543G |
probably benign |
Het |
Adam9 |
A |
T |
8: 25,481,310 (GRCm39) |
V318E |
probably damaging |
Het |
Aim2 |
T |
C |
1: 173,291,548 (GRCm39) |
F318L |
probably damaging |
Het |
Apob |
A |
T |
12: 8,063,134 (GRCm39) |
D3872V |
probably damaging |
Het |
Atat1 |
T |
A |
17: 36,212,261 (GRCm39) |
R323W |
probably null |
Het |
Atp2b4 |
T |
C |
1: 133,642,907 (GRCm39) |
D1066G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,002,002 (GRCm39) |
T1316A |
probably benign |
Het |
Caskin2 |
T |
C |
11: 115,697,127 (GRCm39) |
|
probably benign |
Het |
Cblif |
G |
A |
19: 11,736,370 (GRCm39) |
V314I |
probably benign |
Het |
Ccdc54 |
T |
A |
16: 50,410,987 (GRCm39) |
N93I |
probably damaging |
Het |
Ccnd1 |
A |
C |
7: 144,491,128 (GRCm39) |
D159E |
possibly damaging |
Het |
Cnot1 |
A |
C |
8: 96,466,469 (GRCm39) |
S1589R |
possibly damaging |
Het |
Copa |
T |
A |
1: 171,946,524 (GRCm39) |
Y980* |
probably null |
Het |
Defb19 |
A |
G |
2: 152,418,090 (GRCm39) |
I82T |
possibly damaging |
Het |
Elapor2 |
C |
A |
5: 9,513,030 (GRCm39) |
T1008K |
possibly damaging |
Het |
Fiz1 |
G |
A |
7: 5,011,235 (GRCm39) |
R428C |
probably damaging |
Het |
Fnip2 |
A |
T |
3: 79,479,772 (GRCm39) |
|
probably benign |
Het |
Gabrb3 |
G |
A |
7: 57,474,241 (GRCm39) |
G408S |
probably benign |
Het |
Hao1 |
C |
T |
2: 134,340,178 (GRCm39) |
|
silent |
Het |
Hecw1 |
T |
A |
13: 14,471,998 (GRCm39) |
M557L |
probably damaging |
Het |
Itch |
A |
T |
2: 155,052,496 (GRCm39) |
I699F |
probably damaging |
Het |
Kmt2a |
T |
C |
9: 44,734,671 (GRCm39) |
|
probably benign |
Het |
Leng8 |
T |
G |
7: 4,147,289 (GRCm39) |
Y562* |
probably null |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,587,494 (GRCm39) |
N151K |
unknown |
Het |
Lrrc71 |
T |
C |
3: 87,649,980 (GRCm39) |
E316G |
probably damaging |
Het |
Mgat5 |
A |
G |
1: 127,325,344 (GRCm39) |
N404D |
probably damaging |
Het |
Mrps26 |
C |
A |
2: 130,406,087 (GRCm39) |
T100K |
probably benign |
Het |
Mtor |
A |
G |
4: 148,547,309 (GRCm39) |
T431A |
probably benign |
Het |
Mtor |
T |
A |
4: 148,550,482 (GRCm39) |
C713S |
probably benign |
Het |
Mug2 |
A |
G |
6: 122,054,451 (GRCm39) |
K1077E |
probably damaging |
Het |
Nbas |
A |
G |
12: 13,524,207 (GRCm39) |
T1688A |
probably benign |
Het |
Nek2 |
T |
C |
1: 191,553,764 (GRCm39) |
S3P |
possibly damaging |
Het |
Nell2 |
T |
C |
15: 95,332,990 (GRCm39) |
T190A |
probably benign |
Het |
Npr2 |
A |
T |
4: 43,646,560 (GRCm39) |
N636I |
probably damaging |
Het |
Orc3 |
A |
T |
4: 34,584,846 (GRCm39) |
I453K |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 81,980,448 (GRCm39) |
H865R |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,653,341 (GRCm39) |
V80A |
possibly damaging |
Het |
Phka2 |
T |
A |
X: 159,337,323 (GRCm39) |
D424E |
probably damaging |
Het |
Pkd1 |
C |
T |
17: 24,793,770 (GRCm39) |
T1819I |
probably benign |
Het |
Poglut1 |
T |
C |
16: 38,355,169 (GRCm39) |
D219G |
probably damaging |
Het |
Ppargc1a |
T |
C |
5: 51,631,130 (GRCm39) |
I500V |
possibly damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Pygm |
C |
G |
19: 6,438,185 (GRCm39) |
N163K |
probably benign |
Het |
Qrich1 |
T |
A |
9: 108,436,469 (GRCm39) |
N722K |
possibly damaging |
Het |
Reep6 |
T |
A |
10: 80,166,156 (GRCm39) |
C104* |
probably null |
Het |
Rfx8 |
A |
G |
1: 39,724,719 (GRCm39) |
V214A |
possibly damaging |
Het |
Sis |
G |
A |
3: 72,820,570 (GRCm39) |
T1398I |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,676,360 (GRCm39) |
|
probably null |
Het |
Slc7a14 |
A |
G |
3: 31,291,511 (GRCm39) |
|
probably benign |
Het |
Smc2 |
T |
A |
4: 52,462,948 (GRCm39) |
M646K |
probably benign |
Het |
Snx29 |
A |
G |
16: 11,449,356 (GRCm39) |
N165S |
probably damaging |
Het |
Tead4 |
G |
T |
6: 128,247,925 (GRCm39) |
S37R |
probably damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tex56 |
T |
A |
13: 35,108,574 (GRCm39) |
Y19N |
probably damaging |
Het |
Tff2 |
T |
C |
17: 31,362,199 (GRCm39) |
K40E |
probably benign |
Het |
Traip |
C |
T |
9: 107,840,118 (GRCm39) |
T265M |
probably benign |
Het |
Trim47 |
T |
C |
11: 115,999,109 (GRCm39) |
T256A |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,890,303 (GRCm39) |
M853V |
possibly damaging |
Het |
Tti1 |
G |
T |
2: 157,849,365 (GRCm39) |
Q625K |
possibly damaging |
Het |
Ube2n |
A |
G |
10: 95,377,128 (GRCm39) |
N31S |
probably damaging |
Het |
Vmn2r17 |
T |
C |
5: 109,600,352 (GRCm39) |
M550T |
probably damaging |
Het |
Zfp512 |
T |
A |
5: 31,622,793 (GRCm39) |
N31K |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,767,728 (GRCm39) |
V628A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTACAATGGGGATCAGAGCCG -3'
(R):5'- TGCTAACTGTTGCGCTGTTC -3'
Sequencing Primer
(F):5'- AATCTCTGCGAGTTCAAGGC -3'
(R):5'- GTTCTCTCCGTGGCTGGC -3'
|
Posted On |
2014-09-17 |