Incidental Mutation 'IGL01578:Ttf2'
| ID |
91328 |
| 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 # |
IGL01578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
100846176-100876979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100863511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 608
(S608P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076941]
|
| AlphaFold |
Q5NC05 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076941
AA Change: S608P
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: S608P
| 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: ENSMUST00000122449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151697
|
| SMART Domains |
Protein: ENSMUSP00000119032
Gene: ENSMUSG00000033222
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
21 |
82 |
1e-20 |
BLAST |
|
low complexity region
|
105 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200506
|
| 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 |
|---|
| Arhgap28 |
G |
A |
17: 68,165,195 (GRCm39) |
T516I |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,955,192 (GRCm39) |
C3486R |
probably benign |
Het |
| Camk2g |
G |
A |
14: 20,797,922 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,300,194 (GRCm39) |
E3167G |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,095,272 (GRCm39) |
H2950Q |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,800,870 (GRCm39) |
S379T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,555,704 (GRCm39) |
H13Y |
probably damaging |
Het |
| Fam149a |
A |
T |
8: 45,803,479 (GRCm39) |
D337E |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,842,361 (GRCm39) |
|
probably benign |
Het |
| Gm6489 |
G |
T |
1: 31,326,416 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
G |
A |
4: 137,266,494 (GRCm39) |
R1885H |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,941,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,809,503 (GRCm39) |
N216K |
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,846,198 (GRCm39) |
Y37C |
probably damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,139,019 (GRCm39) |
N486S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,890,506 (GRCm39) |
L7342Q |
unknown |
Het |
| Or13l2 |
A |
T |
3: 97,318,036 (GRCm39) |
C154S |
probably damaging |
Het |
| Or56b2 |
A |
G |
7: 104,338,052 (GRCm39) |
I277V |
probably benign |
Het |
| Or8k20 |
C |
A |
2: 86,106,085 (GRCm39) |
V249F |
probably damaging |
Het |
| Pou4f2 |
A |
C |
8: 79,162,284 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,551,001 (GRCm39) |
P10S |
unknown |
Het |
| Psd2 |
A |
G |
18: 36,112,838 (GRCm39) |
T178A |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,637,038 (GRCm39) |
N391K |
probably damaging |
Het |
| Slc25a34 |
G |
T |
4: 141,349,821 (GRCm39) |
|
probably null |
Het |
| Stap2 |
A |
G |
17: 56,304,623 (GRCm39) |
S360P |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,763,969 (GRCm39) |
E129G |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,979,436 (GRCm39) |
E28D |
probably damaging |
Het |
| Tmem126a |
C |
T |
7: 90,100,750 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,711,297 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ttf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01118:Ttf2
|
APN |
3 |
100,874,413 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-12-09 |
Incidental Mutation