Incidental Mutation 'R3749:Supt16'
| ID |
310111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supt16
|
| Ensembl Gene |
ENSMUSG00000035726 |
| Gene Name |
SPT16, facilitates chromatin remodeling subunit |
| Synonyms |
Spt16, Fact140, Supt16h, Cdc68 |
| MMRRC Submission |
040734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R3749 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52397876-52434696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52417596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 306
(L306P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046709]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046709
AA Change: L306P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
AA Change: L306P
| Domain | Start | End | E-Value | Type |
|---|
|
FACT-Spt16_Nlob
|
5 |
168 |
2.95e-87 |
SMART |
|
Pfam:Peptidase_M24
|
181 |
411 |
2.9e-35 |
PFAM |
|
low complexity region
|
435 |
449 |
N/A |
INTRINSIC |
|
coiled coil region
|
462 |
493 |
N/A |
INTRINSIC |
|
SPT16
|
529 |
689 |
3.38e-96 |
SMART |
|
Rtt106
|
806 |
896 |
1.61e-38 |
SMART |
|
low complexity region
|
926 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
988 |
N/A |
INTRINSIC |
|
coiled coil region
|
994 |
1023 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5719 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
| Adam19 |
A |
T |
11: 46,028,437 (GRCm39) |
D690V |
probably benign |
Het |
| Ankib1 |
G |
T |
5: 3,784,097 (GRCm39) |
P293Q |
probably damaging |
Het |
| Arhgap19 |
T |
A |
19: 41,762,518 (GRCm39) |
E461V |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,445,936 (GRCm39) |
N319K |
possibly damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,155,252 (GRCm39) |
V1164A |
probably benign |
Het |
| Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
| Colq |
A |
T |
14: 31,271,410 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
C |
A |
12: 72,017,940 (GRCm39) |
D716E |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
| Faap24 |
A |
T |
7: 35,092,437 (GRCm39) |
V160D |
possibly damaging |
Het |
| Gpc1 |
C |
A |
1: 92,785,304 (GRCm39) |
C414* |
probably null |
Het |
| Igkv9-120 |
G |
A |
6: 68,026,985 (GRCm39) |
A7T |
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,376,798 (GRCm39) |
C391S |
probably null |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Lrp10 |
A |
T |
14: 54,706,723 (GRCm39) |
N520I |
possibly damaging |
Het |
| Marchf6 |
A |
G |
15: 31,462,160 (GRCm39) |
V856A |
probably benign |
Het |
| Mfsd1 |
T |
C |
3: 67,490,286 (GRCm39) |
S46P |
probably benign |
Het |
| Mme |
T |
A |
3: 63,250,961 (GRCm39) |
V334E |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,474,890 (GRCm39) |
T642A |
probably benign |
Het |
| Olfm1 |
C |
T |
2: 28,098,100 (GRCm39) |
T54I |
probably damaging |
Het |
| Or10c1 |
G |
A |
17: 37,522,691 (GRCm39) |
R18C |
possibly damaging |
Het |
| Or6c3b |
C |
T |
10: 129,527,830 (GRCm39) |
V27I |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,357,837 (GRCm39) |
Y701C |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
| Scn2a |
T |
G |
2: 65,544,115 (GRCm39) |
V832G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc25a25 |
G |
T |
2: 32,310,392 (GRCm39) |
N122K |
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,002,267 (GRCm39) |
|
probably benign |
Het |
| Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,223,466 (GRCm39) |
D114G |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,004 (GRCm39) |
I436T |
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
| Tpi1 |
T |
A |
6: 124,789,754 (GRCm39) |
S130C |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,584,350 (GRCm39) |
H22253Y |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,295,084 (GRCm39) |
V38E |
probably benign |
Het |
| Vmn1r158 |
A |
C |
7: 22,489,639 (GRCm39) |
L190W |
probably damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
| Wnt2 |
T |
C |
6: 18,023,167 (GRCm39) |
I161V |
probably benign |
Het |
| Zdhhc25 |
C |
T |
15: 88,485,226 (GRCm39) |
S187L |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zkscan1 |
T |
C |
5: 138,099,703 (GRCm39) |
S476P |
probably damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,647,118 (GRCm39) |
Y945H |
probably damaging |
Het |
|
| Other mutations in Supt16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Supt16
|
APN |
14 |
52,399,255 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL00985:Supt16
|
APN |
14 |
52,399,148 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01160:Supt16
|
APN |
14 |
52,420,589 (GRCm39) |
missense |
probably benign |
|
|
IGL01328:Supt16
|
APN |
14 |
52,414,489 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01329:Supt16
|
APN |
14 |
52,414,489 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01413:Supt16
|
APN |
14 |
52,414,489 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01414:Supt16
|
APN |
14 |
52,414,489 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01535:Supt16
|
APN |
14 |
52,414,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01765:Supt16
|
APN |
14 |
52,417,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01976:Supt16
|
APN |
14 |
52,419,764 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02422:Supt16
|
APN |
14 |
52,417,000 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02449:Supt16
|
APN |
14 |
52,411,263 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02516:Supt16
|
APN |
14 |
52,421,421 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02831:Supt16
|
APN |
14 |
52,408,335 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03112:Supt16
|
APN |
14 |
52,413,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03406:Supt16
|
APN |
14 |
52,415,598 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7336_Supt16_529
|
UTSW |
14 |
52,408,948 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
watercolor
|
UTSW |
14 |
52,408,338 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0332:Supt16
|
UTSW |
14 |
52,418,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0385:Supt16
|
UTSW |
14 |
52,414,175 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0389:Supt16
|
UTSW |
14 |
52,411,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0422:Supt16
|
UTSW |
14 |
52,421,453 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1101:Supt16
|
UTSW |
14 |
52,408,896 (GRCm39) |
missense |
probably null |
0.81 |
|
R1212:Supt16
|
UTSW |
14 |
52,411,581 (GRCm39) |
nonsense |
probably null |
|
|
R1487:Supt16
|
UTSW |
14 |
52,414,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1494:Supt16
|
UTSW |
14 |
52,409,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1566:Supt16
|
UTSW |
14 |
52,414,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1652:Supt16
|
UTSW |
14 |
52,414,637 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1913:Supt16
|
UTSW |
14 |
52,415,592 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2220:Supt16
|
UTSW |
14 |
52,409,601 (GRCm39) |
nonsense |
probably null |
|
|
R2344:Supt16
|
UTSW |
14 |
52,415,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3430:Supt16
|
UTSW |
14 |
52,412,816 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3746:Supt16
|
UTSW |
14 |
52,417,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4010:Supt16
|
UTSW |
14 |
52,401,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4108:Supt16
|
UTSW |
14 |
52,400,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4109:Supt16
|
UTSW |
14 |
52,400,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Supt16
|
UTSW |
14 |
52,411,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Supt16
|
UTSW |
14 |
52,420,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5309:Supt16
|
UTSW |
14 |
52,400,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Supt16
|
UTSW |
14 |
52,411,601 (GRCm39) |
splice site |
probably null |
|
|
R5895:Supt16
|
UTSW |
14 |
52,401,979 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5941:Supt16
|
UTSW |
14 |
52,419,653 (GRCm39) |
missense |
probably benign |
|
|
R5993:Supt16
|
UTSW |
14 |
52,415,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Supt16
|
UTSW |
14 |
52,408,338 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6254:Supt16
|
UTSW |
14 |
52,408,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Supt16
|
UTSW |
14 |
52,417,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6667:Supt16
|
UTSW |
14 |
52,409,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Supt16
|
UTSW |
14 |
52,408,907 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7063:Supt16
|
UTSW |
14 |
52,409,505 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7276:Supt16
|
UTSW |
14 |
52,414,458 (GRCm39) |
missense |
probably benign |
|
|
R7336:Supt16
|
UTSW |
14 |
52,408,948 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7344:Supt16
|
UTSW |
14 |
52,411,028 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7384:Supt16
|
UTSW |
14 |
52,418,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7411:Supt16
|
UTSW |
14 |
52,415,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Supt16
|
UTSW |
14 |
52,411,013 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7633:Supt16
|
UTSW |
14 |
52,434,556 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8024:Supt16
|
UTSW |
14 |
52,408,332 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8197:Supt16
|
UTSW |
14 |
52,411,542 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8201:Supt16
|
UTSW |
14 |
52,408,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8285:Supt16
|
UTSW |
14 |
52,418,540 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8508:Supt16
|
UTSW |
14 |
52,419,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8531:Supt16
|
UTSW |
14 |
52,410,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8797:Supt16
|
UTSW |
14 |
52,409,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8872:Supt16
|
UTSW |
14 |
52,411,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9048:Supt16
|
UTSW |
14 |
52,418,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9743:Supt16
|
UTSW |
14 |
52,408,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Supt16
|
UTSW |
14 |
52,418,994 (GRCm39) |
missense |
probably null |
0.21 |
|
Z1177:Supt16
|
UTSW |
14 |
52,400,742 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTTGTGGTATCGAAGACCG -3'
(R):5'- ATGCTGTGTGCCGATGATAC -3'
Sequencing Primer
(F):5'- TCGAAGACCGAAGTCAGTGTCTTC -3'
(R):5'- TGCCGATGATACTTTCCTGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation