Incidental Mutation 'R6958:Ttf2'
| ID |
541570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttf2
|
| Ensembl Gene |
ENSMUSG00000033222 |
| Gene Name |
transcription termination factor, RNA polymerase II |
| Synonyms |
4632434F22Rik |
| MMRRC Submission |
045009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R6958 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
100846176-100876979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100853248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 975
(E975K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076941]
|
| AlphaFold |
Q5NC05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076941
AA Change: E975K
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: E975K
| 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: 99.2%
- 20x: 96.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
A |
G |
3: 145,649,558 (GRCm39) |
D159G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,992,579 (GRCm39) |
N4621S |
possibly damaging |
Het |
| Ankrd16 |
C |
T |
2: 11,784,604 (GRCm39) |
A144V |
probably damaging |
Het |
| Bhmt1b |
G |
A |
18: 87,775,046 (GRCm39) |
E190K |
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,511,176 (GRCm39) |
V2A |
probably damaging |
Het |
| Ccdc187 |
C |
T |
2: 26,179,731 (GRCm39) |
V243I |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,132,525 (GRCm39) |
I985F |
unknown |
Het |
| Cfap65 |
T |
C |
1: 74,971,058 (GRCm39) |
T87A |
possibly damaging |
Het |
| Cilp2 |
G |
A |
8: 70,335,190 (GRCm39) |
P603S |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Cpa6 |
C |
T |
1: 10,665,913 (GRCm39) |
V42M |
probably damaging |
Het |
| Cpsf4 |
A |
G |
5: 145,112,402 (GRCm39) |
I115V |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,544 (GRCm39) |
P3562Q |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,967,167 (GRCm39) |
F1664L |
probably damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,571,067 (GRCm39) |
Q69R |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,800,994 (GRCm39) |
T455A |
possibly damaging |
Het |
| Eif2ak3 |
T |
A |
6: 70,869,667 (GRCm39) |
C785S |
probably benign |
Het |
| Elk4 |
T |
A |
1: 131,945,570 (GRCm39) |
F149L |
probably damaging |
Het |
| Fgf14 |
A |
G |
14: 124,914,009 (GRCm39) |
W41R |
probably benign |
Het |
| Fmnl1 |
T |
A |
11: 103,062,140 (GRCm39) |
M1K |
probably null |
Het |
| Foxk2 |
A |
T |
11: 121,190,563 (GRCm39) |
Q568L |
probably benign |
Het |
| Fryl |
T |
G |
5: 73,231,272 (GRCm39) |
I1602L |
possibly damaging |
Het |
| Gfm2 |
A |
G |
13: 97,282,744 (GRCm39) |
I75V |
probably damaging |
Het |
| Gm3233 |
T |
A |
10: 77,595,369 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
G |
T |
4: 155,627,651 (GRCm39) |
|
probably null |
Het |
| Gphn |
G |
T |
12: 78,727,073 (GRCm39) |
V662L |
possibly damaging |
Het |
| Il3 |
A |
C |
11: 54,157,937 (GRCm39) |
V47G |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,020,673 (GRCm39) |
D401G |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,941,336 (GRCm39) |
S276T |
probably benign |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,698 (GRCm39) |
S90P |
unknown |
Het |
| Lars1 |
C |
T |
18: 42,369,704 (GRCm39) |
V394I |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrp10 |
A |
G |
14: 54,707,278 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,194,679 (GRCm39) |
C1407S |
probably benign |
Het |
| Lzts2 |
G |
T |
19: 45,012,582 (GRCm39) |
|
probably benign |
Het |
| Msantd2 |
A |
G |
9: 37,434,753 (GRCm39) |
E331G |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,394,451 (GRCm39) |
G1218S |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Nhp2 |
A |
G |
11: 51,513,934 (GRCm39) |
T118A |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,176,638 (GRCm39) |
Y972C |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,237,566 (GRCm39) |
C230S |
probably damaging |
Het |
| Or12d13 |
T |
C |
17: 37,647,308 (GRCm39) |
I272V |
probably benign |
Het |
| Or51g2 |
A |
G |
7: 102,623,091 (GRCm39) |
L36P |
possibly damaging |
Het |
| Or5w8 |
T |
C |
2: 87,688,295 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pfkfb4 |
A |
T |
9: 108,839,615 (GRCm39) |
N244I |
probably damaging |
Het |
| Pi4ka |
C |
T |
16: 17,143,091 (GRCm39) |
R24Q |
probably damaging |
Het |
| Pkd2l2 |
C |
A |
18: 34,542,543 (GRCm39) |
Y8* |
probably null |
Het |
| Pramel20 |
A |
T |
4: 143,297,829 (GRCm39) |
D83V |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,113,153 (GRCm39) |
N44K |
probably benign |
Het |
| Sds |
G |
A |
5: 120,619,537 (GRCm39) |
V149M |
probably damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,364,065 (GRCm39) |
F204L |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,506,442 (GRCm39) |
A636T |
probably benign |
Het |
| Slc27a1 |
C |
T |
8: 72,038,083 (GRCm39) |
A577V |
possibly damaging |
Het |
| Spata13 |
A |
T |
14: 60,989,300 (GRCm39) |
T319S |
possibly damaging |
Het |
| Styxl2 |
T |
A |
1: 165,935,565 (GRCm39) |
D211V |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,694,532 (GRCm39) |
D29G |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,060,899 (GRCm39) |
I110L |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,615,180 (GRCm39) |
T222A |
probably damaging |
Het |
| Trpd52l3 |
A |
T |
19: 29,981,546 (GRCm39) |
L100F |
probably damaging |
Het |
| Vmn1r193 |
T |
A |
13: 22,404,144 (GRCm39) |
|
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,235,855 (GRCm39) |
T648A |
probably benign |
Het |
| Zfp641 |
C |
T |
15: 98,190,832 (GRCm39) |
V71I |
possibly 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 |
|
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'- TTTAGATCCTCAGGGCCAGG -3'
(R):5'- CGCGTAGGCTTTATCCTCATTAG -3'
Sequencing Primer
(F):5'- GGTAAGCCAGGGATCTCACTC -3'
(R):5'- CTCATTAGGATGTCATAAGAGGAGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation