Incidental Mutation 'R6940:Ttf2'
| ID |
540485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttf2
|
| Ensembl Gene |
ENSMUSG00000033222 |
| Gene Name |
transcription termination factor, RNA polymerase II |
| Synonyms |
4632434F22Rik |
| MMRRC Submission |
045054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R6940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100846176-100876979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100876831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 17
(T17A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076941]
|
| AlphaFold |
Q5NC05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076941
AA Change: T17A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: T17A
| 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 |
|
| Meta Mutation Damage Score |
0.5029 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
C |
A |
9: 54,516,381 (GRCm39) |
A667S |
probably benign |
Het |
| Ank2 |
G |
A |
3: 126,735,621 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,102,038 (GRCm39) |
L812P |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 127,839,470 (GRCm39) |
R263* |
probably null |
Het |
| Cadps2 |
A |
T |
6: 23,302,491 (GRCm39) |
V740E |
probably damaging |
Het |
| Cckbr |
T |
C |
7: 105,084,103 (GRCm39) |
V279A |
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,804,297 (GRCm39) |
S929T |
probably benign |
Het |
| Chaf1b |
G |
A |
16: 93,702,853 (GRCm39) |
R556H |
probably benign |
Het |
| Csn1s1 |
A |
T |
5: 87,822,882 (GRCm39) |
Q69L |
possibly damaging |
Het |
| Dennd1b |
T |
C |
1: 138,981,155 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,162,503 (GRCm39) |
D22G |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,670,836 (GRCm39) |
H472R |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,158,428 (GRCm39) |
R337H |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,869,386 (GRCm39) |
V691A |
possibly damaging |
Het |
| Ern2 |
T |
C |
7: 121,785,369 (GRCm39) |
R3G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,828,096 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
T |
C |
2: 90,575,858 (GRCm39) |
F20L |
unknown |
Het |
| Gtf2b |
C |
A |
3: 142,484,016 (GRCm39) |
D63E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,217,243 (GRCm39) |
Y1377C |
probably damaging |
Het |
| Klf1 |
A |
G |
8: 85,628,724 (GRCm39) |
T41A |
possibly damaging |
Het |
| Lce3d |
G |
A |
3: 92,865,541 (GRCm39) |
S52N |
unknown |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,050,135 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
C |
7: 27,008,369 (GRCm39) |
V1313G |
probably damaging |
Het |
| Morc1 |
C |
A |
16: 48,300,208 (GRCm39) |
S235* |
probably null |
Het |
| Mr1 |
T |
G |
1: 155,005,014 (GRCm39) |
*342S |
probably null |
Het |
| Muc21 |
C |
A |
17: 35,934,118 (GRCm39) |
|
probably benign |
Het |
| Nol4l |
T |
A |
2: 153,253,684 (GRCm39) |
S630C |
probably benign |
Het |
| Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,620 (GRCm39) |
I206T |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,528,987 (GRCm39) |
V1807A |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,572,681 (GRCm39) |
V354E |
possibly damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,251,823 (GRCm39) |
E355D |
probably damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,084,875 (GRCm39) |
D112G |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,457,254 (GRCm39) |
I37N |
probably damaging |
Het |
| Prox2 |
T |
C |
12: 85,141,348 (GRCm39) |
D285G |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,041,792 (GRCm39) |
S61G |
probably benign |
Het |
| Rnf214 |
T |
A |
9: 45,802,196 (GRCm39) |
T289S |
probably damaging |
Het |
| Rnf217 |
G |
T |
10: 31,381,973 (GRCm39) |
|
probably null |
Het |
| Sc5d |
A |
T |
9: 42,166,723 (GRCm39) |
M272K |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,000,626 (GRCm39) |
T542A |
possibly damaging |
Het |
| Sord |
T |
A |
2: 122,094,536 (GRCm39) |
I308N |
probably damaging |
Het |
| Syvn1 |
A |
T |
19: 6,101,214 (GRCm39) |
|
probably benign |
Het |
| Tas2r134 |
A |
G |
2: 51,518,148 (GRCm39) |
H209R |
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,272,784 (GRCm39) |
V214A |
possibly damaging |
Het |
| Trpm5 |
C |
A |
7: 142,638,547 (GRCm39) |
E322* |
probably null |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,343 (GRCm39) |
E492G |
probably benign |
Het |
| Xndc1 |
T |
C |
7: 101,727,094 (GRCm39) |
V161A |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTAGAAGGATCGGAGTGTGG -3'
(R):5'- ACTCTCCCGCTTGATTGGTG -3'
Sequencing Primer
(F):5'- GGTGAGTCCGCGTCCCAAG -3'
(R):5'- CCCGCTTGATTGGTGGAGTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation