Incidental Mutation 'R9311:Supt6'
| ID |
705570 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R9311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78097575-78136798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78116284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 693
(Y693C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
|
| AlphaFold |
Q62383 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002121
AA Change: Y693C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: Y693C
| 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 |
|
| Meta Mutation Damage Score |
0.4492 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,495,816 (GRCm39) |
I84T |
possibly damaging |
Het |
| Adad2 |
G |
T |
8: 120,341,986 (GRCm39) |
R268L |
probably damaging |
Het |
| Agxt2 |
A |
T |
15: 10,380,733 (GRCm39) |
N208I |
probably damaging |
Het |
| Brsk1 |
G |
T |
7: 4,709,722 (GRCm39) |
|
probably null |
Het |
| Cd40 |
A |
T |
2: 164,912,667 (GRCm39) |
Q235L |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,859,490 (GRCm39) |
D1137V |
unknown |
Het |
| Cln6 |
T |
C |
9: 62,757,900 (GRCm39) |
Y220H |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 96,010,794 (GRCm39) |
|
probably null |
Het |
| Cpne1 |
A |
T |
2: 155,919,723 (GRCm39) |
V277E |
probably damaging |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,735 (GRCm39) |
|
probably null |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,139 (GRCm39) |
T41A |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,369,463 (GRCm39) |
|
probably null |
Het |
| Eif4e1b |
C |
A |
13: 54,932,332 (GRCm39) |
H56N |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,823,788 (GRCm39) |
D78E |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,408,290 (GRCm39) |
D45H |
probably benign |
Het |
| Gabarap |
T |
A |
11: 69,882,549 (GRCm39) |
V4E |
probably benign |
Het |
| Gm5105 |
T |
A |
3: 137,755,418 (GRCm39) |
D56V |
unknown |
Het |
| Gosr2 |
G |
T |
11: 103,574,693 (GRCm39) |
H134Q |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,589,215 (GRCm39) |
V72A |
possibly damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,416 (GRCm39) |
V422A |
probably benign |
Het |
| Kcne4 |
C |
A |
1: 78,795,824 (GRCm39) |
D157E |
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,541,345 (GRCm39) |
N195S |
probably damaging |
Het |
| Kirrel1 |
A |
G |
3: 87,005,123 (GRCm39) |
V75A |
probably benign |
Het |
| Klkb1 |
T |
C |
8: 45,722,983 (GRCm39) |
T625A |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,838,275 (GRCm39) |
|
probably null |
Het |
| Lifr |
A |
G |
15: 7,208,418 (GRCm39) |
I599V |
possibly damaging |
Het |
| Lin52 |
A |
T |
12: 84,576,470 (GRCm39) |
E101V |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,802,680 (GRCm39) |
I130V |
probably benign |
Het |
| Liph |
C |
T |
16: 21,774,913 (GRCm39) |
R428Q |
probably damaging |
Het |
| Lrrc4c |
A |
C |
2: 97,461,080 (GRCm39) |
I569L |
possibly damaging |
Het |
| Mnat1 |
G |
A |
12: 73,214,916 (GRCm39) |
V78I |
probably benign |
Het |
| Msln |
C |
T |
17: 25,971,990 (GRCm39) |
D76N |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,463,253 (GRCm39) |
H495R |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nfu1 |
T |
C |
6: 86,986,926 (GRCm39) |
V15A |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,608,714 (GRCm39) |
S441P |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,214,090 (GRCm39) |
|
probably null |
Het |
| Or1j20 |
A |
T |
2: 36,760,405 (GRCm39) |
I276F |
probably damaging |
Het |
| Or5h27 |
A |
T |
16: 59,006,106 (GRCm39) |
C247S |
unknown |
Het |
| Or5w22 |
A |
G |
2: 87,362,358 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,583,925 (GRCm39) |
S272P |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,978,189 (GRCm39) |
V1109A |
unknown |
Het |
| Pik3c3 |
G |
A |
18: 30,445,666 (GRCm39) |
R551H |
probably benign |
Het |
| Plcb1 |
G |
A |
2: 135,189,385 (GRCm39) |
V838I |
probably benign |
Het |
| Plppr4 |
G |
T |
3: 117,119,518 (GRCm39) |
T297K |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,051,320 (GRCm39) |
I67T |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,310,539 (GRCm39) |
N312K |
probably damaging |
Het |
| Sh3glb1 |
A |
C |
3: 144,397,659 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
C |
T |
2: 130,916,013 (GRCm39) |
C1283Y |
probably damaging |
Het |
| Spns1 |
T |
C |
7: 125,972,995 (GRCm39) |
I204V |
probably damaging |
Het |
| Sprr5 |
T |
G |
3: 92,440,397 (GRCm39) |
Q14P |
unknown |
Het |
| Taar9 |
A |
G |
10: 23,985,152 (GRCm39) |
V94A |
probably damaging |
Het |
| Tchp |
T |
C |
5: 114,846,877 (GRCm39) |
S55P |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,863,029 (GRCm39) |
H678R |
possibly damaging |
Het |
| Tnr |
G |
C |
1: 159,677,663 (GRCm39) |
G16A |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,700,563 (GRCm39) |
|
probably null |
Het |
| Tpmt |
A |
G |
13: 47,185,892 (GRCm39) |
|
probably null |
Het |
| Treh |
G |
A |
9: 44,592,655 (GRCm39) |
V87I |
probably benign |
Het |
| Ttc4 |
T |
C |
4: 106,535,963 (GRCm39) |
D33G |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,703,257 (GRCm39) |
D1171G |
probably benign |
Het |
| Vmn2r61 |
G |
T |
7: 41,950,092 (GRCm39) |
L837F |
possibly damaging |
Het |
| Vmn2r86 |
T |
A |
10: 130,288,440 (GRCm39) |
N354Y |
probably damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
| Zscan4b |
C |
A |
7: 10,635,950 (GRCm39) |
V126F |
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 |
|
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 |
|
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'- TGAAAGGTAACCTTGACCTTCAC -3'
(R):5'- GCCTTGAGCTGGAAGAAGTTG -3'
Sequencing Primer
(F):5'- AAGGCCTTGGGTTAACTACC -3'
(R):5'- TTGAGCTGGAAGAAGTTGGTGGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation