Incidental Mutation 'IGL00985:Supt16'
| ID |
29008 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Supt16
|
| Ensembl Gene |
ENSMUSG00000035726 |
| Gene Name |
suppressor of Ty 16 |
| Synonyms |
Supt16h, Spt16, Fact140, Cdc68 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL00985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52160414-52197416 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52161691 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1044
(K1044E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046709]
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181017]
[ENSMUST00000181401]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046709
AA Change: K1044E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
AA Change: K1044E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111600
|
| SMART Domains |
Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
|
coiled coil region
|
499 |
542 |
N/A |
INTRINSIC |
|
C2
|
602 |
707 |
1.08e-2 |
SMART |
|
coiled coil region
|
746 |
795 |
N/A |
INTRINSIC |
|
Blast:C2
|
958 |
1086 |
1e-37 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111603
|
| SMART Domains |
Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
|
coiled coil region
|
499 |
543 |
N/A |
INTRINSIC |
|
Pfam:C2-C2_1
|
582 |
721 |
1.9e-49 |
PFAM |
|
C2
|
764 |
869 |
7.3e-5 |
SMART |
|
coiled coil region
|
910 |
999 |
N/A |
INTRINSIC |
|
Blast:C2
|
1162 |
1290 |
2e-37 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180646
|
| SMART Domains |
Protein: ENSMUSP00000137751
Gene: ENSMUSG00000057132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180901
|
| SMART Domains |
Protein: ENSMUSP00000137826
Gene: ENSMUSG00000057132
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
179 |
223 |
N/A |
INTRINSIC |
|
coiled coil region
|
274 |
363 |
N/A |
INTRINSIC |
|
Blast:C2
|
526 |
654 |
2e-38 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181017
|
| SMART Domains |
Protein: ENSMUSP00000137900
Gene: ENSMUSG00000057132
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
Blast:C2
|
126 |
254 |
2e-41 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181401
|
| SMART Domains |
Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
|
coiled coil region
|
499 |
547 |
N/A |
INTRINSIC |
|
Pfam:DUF3250
|
605 |
710 |
2.8e-46 |
PFAM |
|
C2
|
753 |
858 |
1.08e-2 |
SMART |
|
coiled coil region
|
899 |
988 |
N/A |
INTRINSIC |
|
Blast:C2
|
1151 |
1279 |
1e-37 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227577
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630091E08Rik |
G |
T |
7: 98,543,918 (GRCm38) |
|
noncoding transcript |
Het |
| Abca15 |
G |
A |
7: 120,397,018 (GRCm38) |
G1389E |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,134,600 (GRCm38) |
V92A |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,977,547 (GRCm38) |
S540G |
probably benign |
Het |
| Aplnr |
A |
T |
2: 85,137,663 (GRCm38) |
Y344F |
probably benign |
Het |
| Atm |
A |
T |
9: 53,459,816 (GRCm38) |
V2241E |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,567,161 (GRCm38) |
|
probably benign |
Het |
| Cnpy1 |
A |
T |
5: 28,209,154 (GRCm38) |
Y91* |
probably null |
Het |
| Cobl |
C |
A |
11: 12,254,843 (GRCm38) |
G613W |
probably damaging |
Het |
| Csn1s2a |
T |
C |
5: 87,784,580 (GRCm38) |
S121P |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,203,278 (GRCm38) |
Y871F |
unknown |
Het |
| Gapvd1 |
T |
A |
2: 34,695,563 (GRCm38) |
D1008V |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,978,335 (GRCm38) |
L515P |
probably damaging |
Het |
| Igfl3 |
T |
C |
7: 18,180,075 (GRCm38) |
|
probably null |
Het |
| Kmt2b |
A |
T |
7: 30,579,927 (GRCm38) |
V1470E |
probably damaging |
Het |
| Mcc |
A |
T |
18: 44,491,239 (GRCm38) |
L413Q |
probably damaging |
Het |
| Mia2 |
G |
A |
12: 59,188,360 (GRCm38) |
G610D |
probably damaging |
Het |
| Mlst8 |
A |
T |
17: 24,477,313 (GRCm38) |
D147E |
probably damaging |
Het |
| Muc19 |
G |
T |
15: 91,886,749 (GRCm38) |
|
noncoding transcript |
Het |
| Mybpc3 |
A |
G |
2: 91,135,359 (GRCm38) |
E1172G |
probably benign |
Het |
| Niban3 |
T |
C |
8: 71,604,863 (GRCm38) |
|
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,644,789 (GRCm38) |
L557Q |
probably damaging |
Het |
| P3h3 |
T |
C |
6: 124,845,589 (GRCm38) |
T540A |
probably benign |
Het |
| Phc3 |
T |
A |
3: 30,914,197 (GRCm38) |
I897F |
probably benign |
Het |
| Plekhh2 |
G |
A |
17: 84,563,928 (GRCm38) |
V205I |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,410,746 (GRCm38) |
K506E |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,743,789 (GRCm38) |
T450K |
probably damaging |
Het |
| Retnlg |
G |
A |
16: 48,874,325 (GRCm38) |
R112H |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 33,932,101 (GRCm38) |
V101A |
probably damaging |
Het |
| Serinc5 |
A |
G |
13: 92,706,271 (GRCm38) |
T410A |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,465,969 (GRCm38) |
V553A |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,841,187 (GRCm38) |
W317R |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,821,737 (GRCm38) |
T268A |
probably benign |
Het |
| Tarbp1 |
A |
T |
8: 126,459,161 (GRCm38) |
L431I |
probably damaging |
Het |
| Tas2r124 |
C |
T |
6: 132,755,529 (GRCm38) |
T267I |
probably benign |
Het |
| Tm7sf3 |
C |
T |
6: 146,606,194 (GRCm38) |
V457I |
possibly damaging |
Het |
| Tmem132c |
A |
T |
5: 127,504,866 (GRCm38) |
S382C |
probably damaging |
Het |
| Tmprss7 |
C |
A |
16: 45,662,322 (GRCm38) |
C582F |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,597,131 (GRCm38) |
E1694G |
probably damaging |
Het |
| Txndc2 |
G |
T |
17: 65,638,549 (GRCm38) |
S211Y |
possibly damaging |
Het |
| Ubr3 |
A |
C |
2: 70,003,431 (GRCm38) |
T205P |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,401,515 (GRCm38) |
G741D |
probably damaging |
Het |
| Vps8 |
G |
A |
16: 21,477,584 (GRCm38) |
|
probably benign |
Het |
| Wdr19 |
G |
A |
5: 65,252,299 (GRCm38) |
D1127N |
probably benign |
Het |
| Zim1 |
T |
A |
7: 6,682,760 (GRCm38) |
Y83F |
possibly damaging |
Het |
|
| Other mutations in Supt16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Supt16
|
APN |
14 |
52,161,798 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL01160:Supt16
|
APN |
14 |
52,183,132 (GRCm38) |
missense |
probably benign |
|
|
IGL01328:Supt16
|
APN |
14 |
52,177,032 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL01329:Supt16
|
APN |
14 |
52,177,032 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL01413:Supt16
|
APN |
14 |
52,177,032 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL01414:Supt16
|
APN |
14 |
52,177,032 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL01535:Supt16
|
APN |
14 |
52,177,190 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01765:Supt16
|
APN |
14 |
52,180,223 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01976:Supt16
|
APN |
14 |
52,182,307 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL02422:Supt16
|
APN |
14 |
52,179,543 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02449:Supt16
|
APN |
14 |
52,173,806 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02516:Supt16
|
APN |
14 |
52,183,964 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL02831:Supt16
|
APN |
14 |
52,170,878 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL03112:Supt16
|
APN |
14 |
52,176,398 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03406:Supt16
|
APN |
14 |
52,178,141 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7336_Supt16_529
|
UTSW |
14 |
52,171,491 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
watercolor
|
UTSW |
14 |
52,170,881 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0332:Supt16
|
UTSW |
14 |
52,181,157 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0385:Supt16
|
UTSW |
14 |
52,176,718 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0389:Supt16
|
UTSW |
14 |
52,174,113 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0422:Supt16
|
UTSW |
14 |
52,183,996 (GRCm38) |
missense |
probably benign |
0.26 |
|
R1101:Supt16
|
UTSW |
14 |
52,171,439 (GRCm38) |
missense |
probably null |
0.81 |
|
R1212:Supt16
|
UTSW |
14 |
52,174,124 (GRCm38) |
nonsense |
probably null |
|
|
R1487:Supt16
|
UTSW |
14 |
52,176,608 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1494:Supt16
|
UTSW |
14 |
52,172,459 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1566:Supt16
|
UTSW |
14 |
52,176,655 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1652:Supt16
|
UTSW |
14 |
52,177,180 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1913:Supt16
|
UTSW |
14 |
52,178,135 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R2220:Supt16
|
UTSW |
14 |
52,172,144 (GRCm38) |
nonsense |
probably null |
|
|
R2344:Supt16
|
UTSW |
14 |
52,178,118 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3430:Supt16
|
UTSW |
14 |
52,175,359 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3746:Supt16
|
UTSW |
14 |
52,180,139 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3749:Supt16
|
UTSW |
14 |
52,180,139 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4010:Supt16
|
UTSW |
14 |
52,164,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4108:Supt16
|
UTSW |
14 |
52,162,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4109:Supt16
|
UTSW |
14 |
52,162,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4597:Supt16
|
UTSW |
14 |
52,173,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5117:Supt16
|
UTSW |
14 |
52,183,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5309:Supt16
|
UTSW |
14 |
52,162,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5695:Supt16
|
UTSW |
14 |
52,174,144 (GRCm38) |
splice site |
probably null |
|
|
R5895:Supt16
|
UTSW |
14 |
52,164,522 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5941:Supt16
|
UTSW |
14 |
52,182,196 (GRCm38) |
missense |
probably benign |
|
|
R5993:Supt16
|
UTSW |
14 |
52,178,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6197:Supt16
|
UTSW |
14 |
52,170,881 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6254:Supt16
|
UTSW |
14 |
52,170,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6381:Supt16
|
UTSW |
14 |
52,179,546 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6667:Supt16
|
UTSW |
14 |
52,172,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7000:Supt16
|
UTSW |
14 |
52,171,450 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7063:Supt16
|
UTSW |
14 |
52,172,048 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7276:Supt16
|
UTSW |
14 |
52,177,001 (GRCm38) |
missense |
probably benign |
|
|
R7336:Supt16
|
UTSW |
14 |
52,171,491 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7344:Supt16
|
UTSW |
14 |
52,173,571 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7384:Supt16
|
UTSW |
14 |
52,181,162 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7411:Supt16
|
UTSW |
14 |
52,178,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7586:Supt16
|
UTSW |
14 |
52,173,556 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7633:Supt16
|
UTSW |
14 |
52,197,099 (GRCm38) |
missense |
probably benign |
0.38 |
|
R8024:Supt16
|
UTSW |
14 |
52,170,875 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8197:Supt16
|
UTSW |
14 |
52,174,085 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8201:Supt16
|
UTSW |
14 |
52,170,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8285:Supt16
|
UTSW |
14 |
52,181,083 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8508:Supt16
|
UTSW |
14 |
52,181,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8531:Supt16
|
UTSW |
14 |
52,172,563 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8797:Supt16
|
UTSW |
14 |
52,172,503 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8872:Supt16
|
UTSW |
14 |
52,174,087 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9048:Supt16
|
UTSW |
14 |
52,181,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9743:Supt16
|
UTSW |
14 |
52,171,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Supt16
|
UTSW |
14 |
52,181,537 (GRCm38) |
missense |
probably null |
0.21 |
|
Z1177:Supt16
|
UTSW |
14 |
52,163,285 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2013-04-17 |
Incidental Mutation