Incidental Mutation 'IGL02218:Ttf2'
| ID |
284974 |
| 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 # |
IGL02218
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
100846176-100876979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100871409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 84
(E84G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076941]
|
| AlphaFold |
Q5NC05 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076941
AA Change: E84G
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: E84G
| 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
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
A |
G |
4: 126,505,838 (GRCm39) |
D122G |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,769,860 (GRCm39) |
D885G |
probably benign |
Het |
| Abcf1 |
T |
C |
17: 36,269,230 (GRCm39) |
K676R |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,492,589 (GRCm39) |
V3A |
probably benign |
Het |
| Apba2 |
C |
T |
7: 64,345,425 (GRCm39) |
T205I |
probably benign |
Het |
| Bricd5 |
C |
A |
17: 24,694,296 (GRCm39) |
Y171* |
probably null |
Het |
| Camk2d |
T |
G |
3: 126,633,802 (GRCm39) |
N441K |
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,480,808 (GRCm39) |
V94A |
probably damaging |
Het |
| Chd3 |
C |
T |
11: 69,242,920 (GRCm39) |
|
probably benign |
Het |
| Cipc |
A |
G |
12: 87,008,702 (GRCm39) |
N166S |
probably damaging |
Het |
| Cln5 |
A |
C |
14: 103,313,276 (GRCm39) |
|
probably null |
Het |
| Cnbd1 |
C |
A |
4: 18,887,739 (GRCm39) |
Q258H |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,183 (GRCm39) |
L383P |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,971 (GRCm39) |
V76A |
probably damaging |
Het |
| Dok3 |
A |
G |
13: 55,671,599 (GRCm39) |
L324P |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,761,039 (GRCm39) |
F102Y |
possibly damaging |
Het |
| Ewsr1 |
G |
A |
11: 5,020,668 (GRCm39) |
P551S |
unknown |
Het |
| Fam193a |
G |
T |
5: 34,600,932 (GRCm39) |
V346L |
possibly damaging |
Het |
| Golim4 |
A |
G |
3: 75,785,361 (GRCm39) |
S677P |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,437,952 (GRCm39) |
|
probably benign |
Het |
| Ins1 |
A |
T |
19: 52,253,121 (GRCm39) |
K20N |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,141,760 (GRCm39) |
|
probably benign |
Het |
| Jup |
G |
A |
11: 100,272,665 (GRCm39) |
T249I |
probably damaging |
Het |
| Kctd20 |
T |
A |
17: 29,176,877 (GRCm39) |
N2K |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,824,892 (GRCm39) |
|
probably benign |
Het |
| Klrb1-ps1 |
T |
C |
6: 129,106,269 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,884 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
A |
T |
1: 193,010,941 (GRCm39) |
|
probably null |
Het |
| Large1 |
A |
G |
8: 73,638,750 (GRCm39) |
W276R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,185,684 (GRCm39) |
N603D |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,391,207 (GRCm39) |
V1406A |
probably benign |
Het |
| Lrrc74a |
A |
G |
12: 86,795,822 (GRCm39) |
D265G |
probably benign |
Het |
| Lrrfip2 |
G |
A |
9: 111,048,793 (GRCm39) |
C250Y |
probably benign |
Het |
| Mbtd1 |
A |
G |
11: 93,822,629 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
A |
G |
8: 40,042,357 (GRCm39) |
V406A |
possibly damaging |
Het |
| Mtfr1l |
C |
T |
4: 134,256,491 (GRCm39) |
D225N |
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,391,954 (GRCm39) |
S796R |
possibly damaging |
Het |
| Oaf |
T |
A |
9: 43,136,219 (GRCm39) |
H119L |
probably benign |
Het |
| Or4d1 |
A |
T |
11: 87,804,889 (GRCm39) |
M281K |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,806,081 (GRCm39) |
H516L |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,387,434 (GRCm39) |
I1793F |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,394,255 (GRCm39) |
|
probably benign |
Het |
| Slc25a27 |
C |
T |
17: 43,974,964 (GRCm39) |
|
probably null |
Het |
| Slc2a2 |
A |
T |
3: 28,752,174 (GRCm39) |
E3D |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,512,292 (GRCm39) |
F14S |
probably damaging |
Het |
| Sspn |
T |
C |
6: 145,907,112 (GRCm39) |
V105A |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,100,229 (GRCm39) |
I263T |
probably damaging |
Het |
| Tek |
A |
C |
4: 94,743,574 (GRCm39) |
D863A |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,213,462 (GRCm39) |
A111V |
probably damaging |
Het |
| Tm9sf4 |
G |
T |
2: 153,046,536 (GRCm39) |
V592F |
probably benign |
Het |
| Tmem259 |
A |
G |
10: 79,814,151 (GRCm39) |
M354T |
possibly damaging |
Het |
| Ttyh3 |
T |
C |
5: 140,612,246 (GRCm39) |
E487G |
probably damaging |
Het |
| Ubtf |
C |
A |
11: 102,197,526 (GRCm39) |
E709* |
probably null |
Het |
| Vmn1r119 |
T |
C |
7: 20,745,561 (GRCm39) |
R274G |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,089,546 (GRCm39) |
Q1125R |
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 |
|
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 |
2015-04-16 |
Incidental Mutation