Incidental Mutation 'R5309:Supt16'
| ID |
404742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supt16
|
| Ensembl Gene |
ENSMUSG00000035726 |
| Gene Name |
SPT16, facilitates chromatin remodeling subunit |
| Synonyms |
Spt16, Fact140, Supt16h, Cdc68 |
| MMRRC Submission |
042892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R5309 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52397876-52434696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52400155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 996
(E996G)
|
| 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 |
probably damaging
Transcript: ENSMUST00000046709
AA Change: E996G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
AA Change: E996G
| 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 |
noncoding transcript
Transcript: ENSMUST00000181823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227577
|
| 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
|
| Meta Mutation Damage Score |
0.1166 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (68/69) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,540 (GRCm39) |
Q72R |
unknown |
Het |
| Abca15 |
T |
C |
7: 119,944,592 (GRCm39) |
V409A |
probably damaging |
Het |
| Abcg3 |
A |
C |
5: 105,084,465 (GRCm39) |
C577G |
possibly damaging |
Het |
| Adamtsl5 |
A |
T |
10: 80,180,982 (GRCm39) |
|
probably benign |
Het |
| Adgrg3 |
G |
A |
8: 95,766,492 (GRCm39) |
V388I |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,753,417 (GRCm39) |
Q288R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,265,652 (GRCm39) |
T232A |
probably damaging |
Het |
| Cfap210 |
T |
C |
2: 69,617,602 (GRCm39) |
T60A |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,666,249 (GRCm39) |
E1093V |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,518,360 (GRCm39) |
L343Q |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,574,110 (GRCm39) |
H258R |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,793 (GRCm39) |
I192F |
probably damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,138,617 (GRCm39) |
V266E |
probably damaging |
Het |
| Egfr |
G |
A |
11: 16,861,703 (GRCm39) |
G1161S |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,774,207 (GRCm39) |
V201A |
probably damaging |
Het |
| Exoc7 |
C |
A |
11: 116,195,853 (GRCm39) |
E28* |
probably null |
Het |
| Fam118a |
C |
T |
15: 84,934,956 (GRCm39) |
T195M |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,003,019 (GRCm39) |
F613L |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gnal |
G |
A |
18: 67,346,178 (GRCm39) |
R219K |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,639 (GRCm39) |
E1285V |
probably benign |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,501 (GRCm39) |
S39P |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,970,481 (GRCm39) |
|
probably benign |
Het |
| Klc1 |
A |
G |
12: 111,762,055 (GRCm39) |
K575R |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,634 (GRCm39) |
V689A |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,302,559 (GRCm39) |
V825E |
probably damaging |
Het |
| Mmp9 |
T |
A |
2: 164,792,715 (GRCm39) |
|
probably benign |
Het |
| Myog |
A |
G |
1: 134,218,064 (GRCm39) |
K91E |
probably damaging |
Het |
| Nfil3 |
A |
T |
13: 53,121,656 (GRCm39) |
V416E |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,563,176 (GRCm39) |
E1314* |
probably null |
Het |
| Or4g17 |
T |
C |
2: 111,210,179 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or4k35 |
T |
G |
2: 111,100,655 (GRCm39) |
D19A |
probably benign |
Het |
| Or6c66b |
A |
C |
10: 129,377,134 (GRCm39) |
M243L |
probably benign |
Het |
| Or6c75 |
T |
A |
10: 129,337,383 (GRCm39) |
V210E |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,106,418 (GRCm39) |
V275E |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,923,352 (GRCm39) |
S520P |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,573,147 (GRCm39) |
|
probably null |
Het |
| Proz |
T |
C |
8: 13,111,049 (GRCm39) |
L7P |
probably damaging |
Het |
| Ptpn13 |
G |
A |
5: 103,688,919 (GRCm39) |
S904N |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,664,389 (GRCm39) |
L322P |
probably damaging |
Het |
| Rnf5 |
A |
G |
17: 34,820,562 (GRCm39) |
F175S |
probably benign |
Het |
| Sema4a |
G |
A |
3: 88,344,343 (GRCm39) |
S636F |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,676,708 (GRCm39) |
D193G |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 53,976,164 (GRCm39) |
V18A |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,756,958 (GRCm39) |
C269S |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,226,830 (GRCm39) |
E651G |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,194,324 (GRCm39) |
Q956* |
probably null |
Het |
| Spg21 |
A |
G |
9: 65,376,084 (GRCm39) |
I31V |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,730,716 (GRCm39) |
K268E |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,663,380 (GRCm39) |
D184G |
probably benign |
Het |
| Tmem45a2 |
T |
C |
16: 56,859,370 (GRCm39) |
D287G |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,603,513 (GRCm39) |
D627E |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,305,880 (GRCm39) |
I94N |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,296 (GRCm39) |
N139I |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,956 (GRCm39) |
I301F |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,412,799 (GRCm39) |
I629T |
probably damaging |
Het |
| Zfp949 |
A |
C |
9: 88,449,236 (GRCm39) |
T14P |
possibly 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 |
|
R3749: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 |
|
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'- AAGCCCACCTGTAGCCTATG -3'
(R):5'- CACCTGTACACGCTTTAAAGGAG -3'
Sequencing Primer
(F):5'- GGACTTACATCACGCAATGCTGTG -3'
(R):5'- CTGTACACGCTTTAAAGGAGAAAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation