Incidental Mutation 'R1508:Supt6'
ID |
168079 |
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 |
040869-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1508 (G1)
|
Quality Score |
223 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
78097575-78136798 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 78107029 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 null
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: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl4 |
T |
C |
4: 111,513,595 (GRCm39) |
I447T |
probably benign |
Het |
Albfm1 |
A |
G |
5: 90,729,780 (GRCm39) |
E401G |
probably benign |
Het |
Alpk2 |
C |
A |
18: 65,482,376 (GRCm39) |
G544V |
probably damaging |
Het |
Apob |
T |
C |
12: 8,061,481 (GRCm39) |
I3321T |
possibly damaging |
Het |
Ccdc47 |
C |
T |
11: 106,093,242 (GRCm39) |
D70N |
probably damaging |
Het |
Ceacam13 |
T |
A |
7: 17,744,996 (GRCm39) |
V22D |
possibly damaging |
Het |
Cep76 |
A |
G |
18: 67,756,358 (GRCm39) |
M491T |
probably damaging |
Het |
Clec4a3 |
A |
T |
6: 122,944,467 (GRCm39) |
N171I |
probably benign |
Het |
Col20a1 |
A |
G |
2: 180,634,370 (GRCm39) |
I112V |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,433,557 (GRCm39) |
L1462H |
unknown |
Het |
Cubn |
A |
G |
2: 13,431,916 (GRCm39) |
F1226L |
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,422,250 (GRCm39) |
I77K |
possibly damaging |
Het |
Dcaf1 |
A |
T |
9: 106,731,376 (GRCm39) |
T618S |
probably damaging |
Het |
Echdc3 |
A |
T |
2: 6,211,231 (GRCm39) |
S129T |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,601,503 (GRCm39) |
V272A |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,479,899 (GRCm39) |
F2982L |
probably benign |
Het |
Gm9476 |
A |
T |
10: 100,142,700 (GRCm39) |
|
noncoding transcript |
Het |
Golga1 |
A |
G |
2: 38,913,261 (GRCm39) |
M542T |
probably benign |
Het |
H2-D1 |
T |
A |
17: 35,482,844 (GRCm39) |
C125S |
probably damaging |
Het |
Jazf1 |
G |
A |
6: 52,789,166 (GRCm39) |
H103Y |
probably damaging |
Het |
Klhl12 |
T |
C |
1: 134,416,712 (GRCm39) |
V478A |
possibly damaging |
Het |
Lpcat2b |
A |
T |
5: 107,581,330 (GRCm39) |
T220S |
probably damaging |
Het |
Myocd |
C |
T |
11: 65,075,342 (GRCm39) |
C594Y |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,331,735 (GRCm39) |
E700G |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,332,678 (GRCm39) |
V251A |
possibly damaging |
Het |
Or6k2 |
T |
A |
1: 173,986,930 (GRCm39) |
M197K |
possibly damaging |
Het |
Papln |
A |
G |
12: 83,829,690 (GRCm39) |
Q937R |
probably damaging |
Het |
Pex14 |
T |
C |
4: 149,052,029 (GRCm39) |
R147G |
probably damaging |
Het |
Plppr3 |
A |
T |
10: 79,703,374 (GRCm39) |
Y37N |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,955,654 (GRCm39) |
T522A |
probably benign |
Het |
Ppp3cb |
T |
C |
14: 20,574,492 (GRCm39) |
N201S |
probably damaging |
Het |
Prf1 |
A |
G |
10: 61,139,329 (GRCm39) |
D429G |
probably damaging |
Het |
Ptprn2 |
T |
C |
12: 117,148,342 (GRCm39) |
S701P |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,268,341 (GRCm39) |
T1309I |
possibly damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,487,667 (GRCm39) |
M1647K |
probably damaging |
Het |
Skint11 |
T |
C |
4: 114,088,963 (GRCm39) |
|
probably null |
Het |
Slc8a2 |
T |
C |
7: 15,874,522 (GRCm39) |
Y257H |
probably benign |
Het |
Slfn1 |
T |
A |
11: 83,012,181 (GRCm39) |
I99N |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,349,591 (GRCm39) |
T282A |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,461,448 (GRCm39) |
D228V |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,143,072 (GRCm39) |
N1031S |
probably benign |
Het |
Tdrd1 |
G |
A |
19: 56,839,790 (GRCm39) |
E617K |
probably damaging |
Het |
Tex15 |
C |
G |
8: 34,066,880 (GRCm39) |
F2103L |
probably damaging |
Het |
Trim21 |
T |
A |
7: 102,208,783 (GRCm39) |
Q312L |
possibly damaging |
Het |
Trim56 |
C |
T |
5: 137,142,791 (GRCm39) |
A242T |
probably benign |
Het |
Usp4 |
T |
C |
9: 108,249,873 (GRCm39) |
V467A |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,589,886 (GRCm39) |
I677L |
probably benign |
Het |
Vstm4 |
T |
C |
14: 32,585,511 (GRCm39) |
V26A |
probably damaging |
Het |
Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
Zfat |
T |
A |
15: 68,050,600 (GRCm39) |
K807I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCAACCAGCAGAAACTGCTTTAC -3'
(R):5'- GCTGCTCTCTTCTGTACAAACAAGCTC -3'
Sequencing Primer
(F):5'- GCAGAAACTGCTTTACAACAGTAGAC -3'
(R):5'- cacaccagaagagggcac -3'
|
Posted On |
2014-04-13 |