Incidental Mutation 'IGL01118:Ttf2'
| ID |
50760 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttf2
|
| Ensembl Gene |
ENSMUSG00000033222 |
| Gene Name |
transcription termination factor, RNA polymerase II |
| Synonyms |
4632434F22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL01118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
100846176-100876979 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 100874413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076941]
|
| AlphaFold |
Q5NC05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076941
|
| SMART Domains |
Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-GRF
|
4 |
44 |
2.3e-10 |
PFAM |
|
low complexity region
|
328 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
479 |
N/A |
INTRINSIC |
|
DEXDc
|
542 |
774 |
8.6e-35 |
SMART |
|
Blast:DEXDc
|
839 |
892 |
8e-7 |
BLAST |
|
low complexity region
|
893 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
932 |
N/A |
INTRINSIC |
|
HELICc
|
999 |
1082 |
5.61e-16 |
SMART |
|
low complexity region
|
1099 |
1110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127357
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
T |
3: 124,195,058 (GRCm39) |
R539Q |
probably benign |
Het |
| Abcb1a |
G |
A |
5: 8,724,687 (GRCm39) |
R40H |
probably damaging |
Het |
| Acan |
T |
A |
7: 78,748,401 (GRCm39) |
S1057R |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,989,942 (GRCm39) |
D3742V |
probably damaging |
Het |
| Amdhd1 |
A |
T |
10: 93,367,430 (GRCm39) |
D241E |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,831,565 (GRCm39) |
Y605C |
possibly damaging |
Het |
| Dnmt3l |
T |
C |
10: 77,893,120 (GRCm39) |
F299S |
probably damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,212 (GRCm39) |
N116Y |
probably damaging |
Het |
| Ess2 |
A |
T |
16: 17,720,796 (GRCm39) |
I350N |
probably damaging |
Het |
| G6pd2 |
A |
T |
5: 61,967,406 (GRCm39) |
M394L |
probably benign |
Het |
| Gm9839 |
A |
T |
1: 32,558,924 (GRCm39) |
M386K |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
| Hgs |
T |
C |
11: 120,366,040 (GRCm39) |
V195A |
probably damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,978 (GRCm39) |
S96C |
probably damaging |
Het |
| Mgl2 |
A |
G |
11: 70,025,015 (GRCm39) |
E12G |
probably benign |
Het |
| Mup11 |
A |
T |
4: 60,615,779 (GRCm39) |
F153I |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,812 (GRCm39) |
C2057S |
probably damaging |
Het |
| Nkrf |
A |
G |
X: 36,152,410 (GRCm39) |
F624S |
probably damaging |
Het |
| Noto |
T |
C |
6: 85,401,192 (GRCm39) |
S74P |
probably benign |
Het |
| Or8k40 |
A |
G |
2: 86,584,314 (GRCm39) |
I256T |
probably benign |
Het |
| Pax8 |
T |
C |
2: 24,332,944 (GRCm39) |
|
probably benign |
Het |
| Psg28 |
A |
T |
7: 18,162,017 (GRCm39) |
V162D |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,078,264 (GRCm39) |
F776S |
probably damaging |
Het |
| Taar8a |
A |
T |
10: 23,952,759 (GRCm39) |
H121L |
probably damaging |
Het |
| Tas2r113 |
A |
G |
6: 132,870,278 (GRCm39) |
N102S |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,885,572 (GRCm39) |
T863A |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,942,206 (GRCm39) |
H611R |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,073,661 (GRCm39) |
L762Q |
probably damaging |
Het |
| Yeats2 |
T |
G |
16: 20,005,054 (GRCm39) |
S364A |
probably damaging |
Het |
| Zdhhc15 |
G |
T |
X: 103,641,712 (GRCm39) |
Q82K |
probably benign |
Het |
|
| Other mutations in Ttf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01578:Ttf2
|
APN |
3 |
100,863,511 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02218:Ttf2
|
APN |
3 |
100,871,409 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03267:Ttf2
|
APN |
3 |
100,852,120 (GRCm39) |
nonsense |
probably null |
|
|
FR4548:Ttf2
|
UTSW |
3 |
100,870,476 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Ttf2
|
UTSW |
3 |
100,870,476 (GRCm39) |
small insertion |
probably benign |
|
|
R0784:Ttf2
|
UTSW |
3 |
100,870,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0894:Ttf2
|
UTSW |
3 |
100,876,865 (GRCm39) |
splice site |
probably benign |
|
|
R2083:Ttf2
|
UTSW |
3 |
100,876,817 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2125:Ttf2
|
UTSW |
3 |
100,855,509 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2126:Ttf2
|
UTSW |
3 |
100,855,509 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2230:Ttf2
|
UTSW |
3 |
100,865,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3084:Ttf2
|
UTSW |
3 |
100,855,580 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3700:Ttf2
|
UTSW |
3 |
100,858,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3963:Ttf2
|
UTSW |
3 |
100,849,136 (GRCm39) |
unclassified |
probably benign |
|
|
R4002:Ttf2
|
UTSW |
3 |
100,855,541 (GRCm39) |
nonsense |
probably null |
|
|
R4290:Ttf2
|
UTSW |
3 |
100,870,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4833:Ttf2
|
UTSW |
3 |
100,868,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4909:Ttf2
|
UTSW |
3 |
100,861,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Ttf2
|
UTSW |
3 |
100,870,485 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5523:Ttf2
|
UTSW |
3 |
100,866,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5669:Ttf2
|
UTSW |
3 |
100,858,433 (GRCm39) |
nonsense |
probably null |
|
|
R6531:Ttf2
|
UTSW |
3 |
100,863,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6776:Ttf2
|
UTSW |
3 |
100,859,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6795:Ttf2
|
UTSW |
3 |
100,866,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Ttf2
|
UTSW |
3 |
100,876,941 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6940:Ttf2
|
UTSW |
3 |
100,876,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6958:Ttf2
|
UTSW |
3 |
100,853,248 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6962:Ttf2
|
UTSW |
3 |
100,858,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Ttf2
|
UTSW |
3 |
100,866,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7365:Ttf2
|
UTSW |
3 |
100,870,618 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7470:Ttf2
|
UTSW |
3 |
100,870,478 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7534:Ttf2
|
UTSW |
3 |
100,857,728 (GRCm39) |
splice site |
probably null |
|
|
R8023:Ttf2
|
UTSW |
3 |
100,863,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8087:Ttf2
|
UTSW |
3 |
100,871,412 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8219:Ttf2
|
UTSW |
3 |
100,869,879 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8757:Ttf2
|
UTSW |
3 |
100,857,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Ttf2
|
UTSW |
3 |
100,870,644 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8888:Ttf2
|
UTSW |
3 |
100,870,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8895:Ttf2
|
UTSW |
3 |
100,870,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8900:Ttf2
|
UTSW |
3 |
100,859,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Ttf2
|
UTSW |
3 |
100,869,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9204:Ttf2
|
UTSW |
3 |
100,869,880 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9451:Ttf2
|
UTSW |
3 |
100,852,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9622:Ttf2
|
UTSW |
3 |
100,859,918 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9704:Ttf2
|
UTSW |
3 |
100,859,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF027:Ttf2
|
UTSW |
3 |
100,870,473 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Ttf2
|
UTSW |
3 |
100,870,473 (GRCm39) |
small insertion |
probably benign |
|
|
Z1177:Ttf2
|
UTSW |
3 |
100,866,582 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation