Incidental Mutation 'R7534:Ttf2'
| ID |
585956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttf2
|
| Ensembl Gene |
ENSMUSG00000033222 |
| Gene Name |
transcription termination factor, RNA polymerase II |
| Synonyms |
4632434F22Rik |
| MMRRC Submission |
045606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R7534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100846176-100876979 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 100857728 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 null
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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
A |
C |
17: 35,390,390 (GRCm39) |
M120R |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,727,982 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,450,015 (GRCm39) |
S2304P |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,502,777 (GRCm39) |
C632S |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,705,860 (GRCm39) |
N1527S |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,801,319 (GRCm39) |
L1363P |
probably damaging |
Het |
| Cacna1g |
G |
A |
11: 94,301,904 (GRCm39) |
P2037S |
probably benign |
Het |
| Cdc27 |
A |
G |
11: 104,399,240 (GRCm39) |
L724S |
probably damaging |
Het |
| Cttnbp2 |
C |
T |
6: 18,420,764 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,421,580 (GRCm39) |
A280V |
probably benign |
Het |
| Dclk3 |
G |
A |
9: 111,297,286 (GRCm39) |
G277R |
probably benign |
Het |
| Ddr1 |
A |
G |
17: 35,993,514 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
C |
1: 46,809,227 (GRCm39) |
D3515A |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,672,172 (GRCm39) |
T49M |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,631,060 (GRCm39) |
F40I |
probably damaging |
Het |
| Fancd2os |
T |
C |
6: 113,574,601 (GRCm39) |
H135R |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,509,875 (GRCm39) |
I1446V |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,856,545 (GRCm39) |
Y584* |
probably null |
Het |
| Galnt16 |
A |
T |
12: 80,643,909 (GRCm39) |
L442F |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,432,973 (GRCm39) |
|
probably benign |
Het |
| Ggta1 |
C |
T |
2: 35,292,440 (GRCm39) |
R289Q |
probably damaging |
Het |
| Gm11564 |
T |
C |
11: 99,706,347 (GRCm39) |
T28A |
unknown |
Het |
| Hcn1 |
A |
G |
13: 118,111,961 (GRCm39) |
T642A |
unknown |
Het |
| Hhat |
A |
T |
1: 192,408,612 (GRCm39) |
L173H |
probably damaging |
Het |
| Hook1 |
T |
G |
4: 95,905,834 (GRCm39) |
I585S |
probably benign |
Het |
| Ighg1 |
A |
T |
12: 113,293,349 (GRCm39) |
S114T |
|
Het |
| Kmt2d |
G |
A |
15: 98,749,899 (GRCm39) |
P2598L |
unknown |
Het |
| Macc1 |
A |
T |
12: 119,411,254 (GRCm39) |
H674L |
probably benign |
Het |
| Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,188 (GRCm39) |
M71K |
probably benign |
Het |
| Or7e170 |
A |
G |
9: 19,795,472 (GRCm39) |
V43A |
probably benign |
Het |
| Or9g3 |
A |
C |
2: 85,589,803 (GRCm39) |
L306V |
probably benign |
Het |
| Pnliprp2 |
T |
A |
19: 58,763,574 (GRCm39) |
S408T |
probably benign |
Het |
| Ppara |
A |
C |
15: 85,661,927 (GRCm39) |
Y56S |
probably benign |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,816 (GRCm39) |
C114R |
probably benign |
Het |
| Pycard |
C |
T |
7: 127,592,657 (GRCm39) |
V57I |
probably damaging |
Het |
| Relch |
G |
A |
1: 105,668,748 (GRCm39) |
R993Q |
probably benign |
Het |
| Rin3 |
T |
G |
12: 102,317,200 (GRCm39) |
Y143D |
unknown |
Het |
| Slc12a7 |
A |
G |
13: 73,912,187 (GRCm39) |
|
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,957,440 (GRCm39) |
R444H |
probably damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,433,361 (GRCm39) |
I25N |
probably benign |
Het |
| Uqcrc2 |
A |
G |
7: 120,240,912 (GRCm39) |
T115A |
possibly damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,230 (GRCm39) |
R328* |
probably null |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,040 (GRCm39) |
Y269F |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,995,030 (GRCm39) |
Y118C |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,766,611 (GRCm39) |
V374A |
probably damaging |
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 |
|
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 |
|
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'- GAGGTTTACCAGTGGAATCCAGC -3'
(R):5'- GTTCATTATACATCCTGTTGGGGC -3'
Sequencing Primer
(F):5'- TGTTCTCCTCAGCAAAAGGC -3'
(R):5'- GCTGTTTCCATTGTTCCTGTAAAATG -3'
|
| Posted On |
2019-10-18 |
Incidental Mutation