Incidental Mutation 'R7609:Supt6'
ID |
588506 |
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 |
045714-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7609 (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 78117777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 480
(N480D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
|
AlphaFold |
Q62383 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002121
AA Change: N480D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000002121 Gene: ENSMUSG00000002052 AA Change: N480D
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 |
0.0588 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
96% (69/72) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,896,744 (GRCm39) |
Y288C |
probably benign |
Het |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Agl |
C |
A |
3: 116,600,928 (GRCm39) |
R24I |
possibly damaging |
Het |
Aldoart2 |
A |
G |
12: 55,612,833 (GRCm39) |
T253A |
probably benign |
Het |
Ankrd39 |
G |
A |
1: 36,578,546 (GRCm39) |
R160W |
probably damaging |
Het |
Aspscr1 |
C |
T |
11: 120,568,348 (GRCm39) |
T57M |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,792,817 (GRCm39) |
L437S |
probably benign |
Het |
Bcl9l |
T |
A |
9: 44,417,044 (GRCm39) |
L331Q |
probably damaging |
Het |
Cdhr4 |
C |
A |
9: 107,874,482 (GRCm39) |
P546T |
probably damaging |
Het |
Cfap61 |
T |
C |
2: 145,954,453 (GRCm39) |
C231R |
unknown |
Het |
Cnih4 |
T |
C |
1: 180,983,467 (GRCm39) |
L61P |
probably damaging |
Het |
Dtx4 |
A |
G |
19: 12,469,645 (GRCm39) |
Y161H |
probably damaging |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Ercc6 |
A |
G |
14: 32,288,318 (GRCm39) |
H830R |
probably benign |
Het |
Exoc7 |
T |
C |
11: 116,180,085 (GRCm39) |
N673S |
possibly damaging |
Het |
Gm12185 |
T |
C |
11: 48,806,850 (GRCm39) |
S114G |
possibly damaging |
Het |
Hsfy2 |
A |
T |
1: 56,676,310 (GRCm39) |
F76I |
probably benign |
Het |
Igsf9b |
A |
G |
9: 27,257,186 (GRCm39) |
D1413G |
probably benign |
Het |
Klk1b8 |
G |
A |
7: 43,451,603 (GRCm39) |
C198Y |
probably damaging |
Het |
Lama3 |
G |
T |
18: 12,664,891 (GRCm39) |
|
probably null |
Het |
Lce3f |
A |
T |
3: 92,900,403 (GRCm39) |
S75C |
unknown |
Het |
Ldhal6b |
T |
C |
17: 5,468,266 (GRCm39) |
M223V |
probably benign |
Het |
Magoh |
T |
C |
4: 107,744,409 (GRCm39) |
V126A |
possibly damaging |
Het |
Mc1r |
A |
T |
8: 124,135,032 (GRCm39) |
I262F |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,010,591 (GRCm39) |
I629T |
probably damaging |
Het |
Mkrn2os |
A |
G |
6: 115,563,687 (GRCm39) |
V116A |
possibly damaging |
Het |
Mtcl3 |
A |
T |
10: 29,024,224 (GRCm39) |
D380V |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,415,466 (GRCm39) |
V2804D |
possibly damaging |
Het |
Myo15a |
T |
C |
11: 60,379,637 (GRCm39) |
V279A |
|
Het |
Nhlrc2 |
A |
G |
19: 56,583,328 (GRCm39) |
I600V |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,335,356 (GRCm39) |
Q2183R |
probably benign |
Het |
Obscn |
C |
T |
11: 58,891,125 (GRCm39) |
E7136K |
unknown |
Het |
Or10ag56 |
T |
C |
2: 87,139,853 (GRCm39) |
V260A |
probably benign |
Het |
Or5p4 |
T |
A |
7: 107,680,753 (GRCm39) |
F251I |
probably damaging |
Het |
Or8c9 |
A |
C |
9: 38,241,520 (GRCm39) |
L209F |
possibly damaging |
Het |
Or8g37 |
C |
T |
9: 39,731,583 (GRCm39) |
T216I |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,230,546 (GRCm39) |
I141T |
possibly damaging |
Het |
Pde4dip |
C |
A |
3: 97,622,881 (GRCm39) |
V1443F |
possibly damaging |
Het |
Pdgfra |
T |
C |
5: 75,327,382 (GRCm39) |
V193A |
probably benign |
Het |
Phf3 |
T |
C |
1: 30,844,582 (GRCm39) |
Y1459C |
probably benign |
Het |
Pias4 |
A |
T |
10: 80,993,860 (GRCm39) |
|
probably null |
Het |
Plcg2 |
A |
G |
8: 118,284,852 (GRCm39) |
N159S |
probably benign |
Het |
Plekha7 |
T |
C |
7: 115,763,681 (GRCm39) |
D307G |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,990,240 (GRCm39) |
K491E |
probably benign |
Het |
Rbpjl |
A |
T |
2: 164,247,734 (GRCm39) |
R62S |
probably benign |
Het |
Rgs11 |
T |
C |
17: 26,426,415 (GRCm39) |
S245P |
probably damaging |
Het |
Ripor3 |
G |
A |
2: 167,826,490 (GRCm39) |
A685V |
possibly damaging |
Het |
Rnase9 |
G |
A |
14: 51,276,940 (GRCm39) |
P13S |
possibly damaging |
Het |
Saxo5 |
A |
T |
8: 3,526,057 (GRCm39) |
H70L |
probably benign |
Het |
Scin |
C |
T |
12: 40,174,588 (GRCm39) |
C165Y |
probably damaging |
Het |
Senp7 |
T |
C |
16: 55,932,000 (GRCm39) |
W100R |
probably benign |
Het |
Slc26a2 |
T |
C |
18: 61,331,532 (GRCm39) |
D633G |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,283,545 (GRCm39) |
P446S |
probably damaging |
Het |
Spag17 |
T |
A |
3: 100,002,911 (GRCm39) |
C1878* |
probably null |
Het |
Ssc5d |
A |
G |
7: 4,930,575 (GRCm39) |
E129G |
possibly damaging |
Het |
Tbk1 |
A |
G |
10: 121,388,406 (GRCm39) |
L590S |
probably damaging |
Het |
Tmem63a |
T |
A |
1: 180,780,539 (GRCm39) |
|
probably null |
Het |
Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
Trio |
A |
G |
15: 27,912,728 (GRCm39) |
S109P |
unknown |
Het |
Tsga10 |
A |
T |
1: 37,843,974 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,626,107 (GRCm39) |
L14984* |
probably null |
Het |
Tyr |
T |
C |
7: 87,133,092 (GRCm39) |
T325A |
probably benign |
Het |
U2surp |
A |
T |
9: 95,367,732 (GRCm39) |
|
probably null |
Het |
Uba6 |
C |
A |
5: 86,294,934 (GRCm39) |
K368N |
probably benign |
Het |
Upb1 |
A |
G |
10: 75,272,035 (GRCm39) |
T283A |
probably benign |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Vmn1r31 |
A |
G |
6: 58,449,455 (GRCm39) |
Y137H |
probably damaging |
Het |
Wdtc1 |
T |
C |
4: 133,023,748 (GRCm39) |
K541R |
probably damaging |
Het |
Wrn |
A |
G |
8: 33,800,741 (GRCm39) |
I624T |
possibly damaging |
Het |
Zfp804b |
T |
A |
5: 6,820,066 (GRCm39) |
D999V |
possibly damaging |
Het |
Zmym4 |
T |
A |
4: 126,819,588 (GRCm39) |
H105L |
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 |
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'- ACCTGGGAACAAAATTTGAGACC -3'
(R):5'- CTTAGCTGTGCTTGAGCTGAAG -3'
Sequencing Primer
(F):5'- ATTTGAGACCAGTCAGCTCTTG -3'
(R):5'- GCTGAAGCTAGGAACTATTGTATGAC -3'
|
Posted On |
2019-10-24 |