Incidental Mutation 'R0478:Tfdp2'
| ID |
43205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfdp2
|
| Ensembl Gene |
ENSMUSG00000032411 |
| Gene Name |
transcription factor Dp 2 |
| Synonyms |
A330080J22Rik, DP3, DP-3, 1110029I05Rik, DP3 |
| MMRRC Submission |
038678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R0478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
96078348-96205699 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96172636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 43
(D43E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034982]
[ENSMUST00000165120]
[ENSMUST00000165768]
[ENSMUST00000179065]
[ENSMUST00000179416]
[ENSMUST00000185644]
[ENSMUST00000186609]
[ENSMUST00000188829]
[ENSMUST00000188750]
[ENSMUST00000188008]
[ENSMUST00000189606]
[ENSMUST00000190104]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034982
AA Change: D43E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000034982
Gene: ENSMUSG00000032411
AA Change: D43E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
66 |
147 |
3.8e-29 |
PFAM |
|
DP
|
154 |
298 |
1.69e-87 |
SMART |
|
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165120
|
| SMART Domains |
Protein: ENSMUSP00000132934
Gene: ENSMUSG00000032411
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
1 |
72 |
3.2e-25 |
PFAM |
|
DP
|
79 |
223 |
1.69e-87 |
SMART |
|
low complexity region
|
270 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165768
AA Change: D43E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000128260
Gene: ENSMUSG00000032411
AA Change: D43E
| Domain | Start | End | E-Value | Type |
|---|
|
E2F_TDP
|
66 |
148 |
1.39e-33 |
SMART |
|
DP
|
155 |
299 |
1.69e-87 |
SMART |
|
low complexity region
|
346 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179065
AA Change: D17E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000136817
Gene: ENSMUSG00000032411
AA Change: D17E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
40 |
121 |
3.9e-29 |
PFAM |
|
DP
|
128 |
272 |
1.69e-87 |
SMART |
|
low complexity region
|
319 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179416
AA Change: D43E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000137176
Gene: ENSMUSG00000032411
AA Change: D43E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
66 |
147 |
3.8e-29 |
PFAM |
|
DP
|
154 |
298 |
1.69e-87 |
SMART |
|
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185644
AA Change: D43E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000140061
Gene: ENSMUSG00000032411
AA Change: D43E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
66 |
147 |
3.8e-29 |
PFAM |
|
DP
|
154 |
298 |
1.69e-87 |
SMART |
|
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186609
|
| SMART Domains |
Protein: ENSMUSP00000139891
Gene: ENSMUSG00000032411
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
14 |
96 |
3.2e-27 |
PFAM |
|
DP
|
103 |
203 |
4e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188829
AA Change: D43E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000140359
Gene: ENSMUSG00000032411
AA Change: D43E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
66 |
108 |
4.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188750
AA Change: D104E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139926
Gene: ENSMUSG00000032411
AA Change: D104E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
127 |
208 |
1.3e-26 |
PFAM |
|
DP
|
215 |
359 |
8e-92 |
SMART |
|
low complexity region
|
406 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188008
|
| SMART Domains |
Protein: ENSMUSP00000139848
Gene: ENSMUSG00000032411
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
50 |
132 |
1e-26 |
PFAM |
|
DP
|
139 |
283 |
8e-92 |
SMART |
|
low complexity region
|
330 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189606
|
| SMART Domains |
Protein: ENSMUSP00000141084
Gene: ENSMUSG00000032411
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
50 |
132 |
1e-26 |
PFAM |
|
DP
|
139 |
283 |
8e-92 |
SMART |
|
low complexity region
|
330 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190104
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
All alleles(416) : Targeted, other(1) Gene trapped(415)
SNPs within 2kb(416 from dbSNP Build 128)
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| 4930556J24Rik |
T |
G |
11: 3,926,259 (GRCm39) |
|
probably benign |
Het |
| Acnat1 |
T |
G |
4: 49,450,901 (GRCm39) |
D70A |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,172,549 (GRCm39) |
V620A |
probably benign |
Het |
| Aldoart1 |
T |
A |
4: 72,770,580 (GRCm39) |
H21L |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,860,348 (GRCm39) |
V290A |
probably damaging |
Het |
| Bpifb3 |
C |
T |
2: 153,773,400 (GRCm39) |
|
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,751,750 (GRCm39) |
M235T |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,642,917 (GRCm39) |
E245G |
possibly damaging |
Het |
| Epgn |
G |
T |
5: 91,178,987 (GRCm39) |
V36L |
probably benign |
Het |
| Ets2 |
C |
A |
16: 95,517,306 (GRCm39) |
P346Q |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,044,682 (GRCm39) |
L81P |
probably damaging |
Het |
| Fancf |
A |
C |
7: 51,511,440 (GRCm39) |
L188R |
probably damaging |
Het |
| Fibin |
T |
C |
2: 110,193,079 (GRCm39) |
D21G |
possibly damaging |
Het |
| Fzd6 |
A |
G |
15: 38,897,429 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,267,299 (GRCm39) |
Q540L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,509,281 (GRCm39) |
L531Q |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,423 (GRCm39) |
V137A |
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,142,223 (GRCm39) |
A826T |
probably damaging |
Het |
| Kiz |
T |
C |
2: 146,784,078 (GRCm39) |
V537A |
possibly damaging |
Het |
| Klhl32 |
C |
T |
4: 24,792,777 (GRCm39) |
G15D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lbp |
T |
C |
2: 158,159,448 (GRCm39) |
|
probably benign |
Het |
| Mmp25 |
T |
C |
17: 23,851,756 (GRCm39) |
T318A |
probably benign |
Het |
| Mrpl50 |
A |
G |
4: 49,514,513 (GRCm39) |
C53R |
probably damaging |
Het |
| Msl3l2 |
G |
C |
10: 55,991,411 (GRCm39) |
E45D |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,681,988 (GRCm39) |
|
probably null |
Het |
| Noc3l |
A |
G |
19: 38,798,450 (GRCm39) |
|
probably null |
Het |
| Or12e7 |
T |
A |
2: 87,288,370 (GRCm39) |
V287E |
probably damaging |
Het |
| Or1x6 |
T |
C |
11: 50,939,539 (GRCm39) |
S202P |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,812,233 (GRCm39) |
S100T |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,127,175 (GRCm39) |
G1093S |
possibly damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,609,431 (GRCm39) |
S350T |
probably damaging |
Het |
| Ptk2b |
G |
T |
14: 66,450,821 (GRCm39) |
N48K |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,175,007 (GRCm39) |
L172P |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sphkap |
C |
T |
1: 83,256,432 (GRCm39) |
R152H |
probably damaging |
Het |
| St3gal1 |
T |
C |
15: 66,985,579 (GRCm39) |
Y25C |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,795,932 (GRCm39) |
F175S |
probably damaging |
Het |
| Tgm1 |
G |
A |
14: 55,937,791 (GRCm39) |
Q773* |
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,271,360 (GRCm39) |
R837S |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,103,792 (GRCm39) |
V880A |
possibly damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,535,081 (GRCm39) |
V268E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,398,788 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
G |
T |
17: 21,940,995 (GRCm39) |
E57* |
probably null |
Het |
|
| Other mutations in Tfdp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01566:Tfdp2
|
APN |
9 |
96,177,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01737:Tfdp2
|
APN |
9 |
96,182,465 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02725:Tfdp2
|
APN |
9 |
96,169,748 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02754:Tfdp2
|
APN |
9 |
96,199,592 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02975:Tfdp2
|
APN |
9 |
96,199,989 (GRCm39) |
unclassified |
probably benign |
|
|
I2289:Tfdp2
|
UTSW |
9 |
96,199,848 (GRCm39) |
nonsense |
probably null |
|
|
R0329:Tfdp2
|
UTSW |
9 |
96,188,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Tfdp2
|
UTSW |
9 |
96,188,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Tfdp2
|
UTSW |
9 |
96,199,857 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1851:Tfdp2
|
UTSW |
9 |
96,179,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2121:Tfdp2
|
UTSW |
9 |
96,177,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2432:Tfdp2
|
UTSW |
9 |
96,192,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4635:Tfdp2
|
UTSW |
9 |
96,179,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5970:Tfdp2
|
UTSW |
9 |
96,199,627 (GRCm39) |
missense |
unknown |
|
|
R7488:Tfdp2
|
UTSW |
9 |
96,179,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Tfdp2
|
UTSW |
9 |
96,192,659 (GRCm39) |
missense |
|
|
|
R8222:Tfdp2
|
UTSW |
9 |
96,192,666 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8986:Tfdp2
|
UTSW |
9 |
96,172,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9544:Tfdp2
|
UTSW |
9 |
96,169,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Tfdp2
|
UTSW |
9 |
96,169,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tfdp2
|
UTSW |
9 |
96,188,911 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTTCATGCCATATACGCATTGAC -3'
(R):5'- TGTACTCGCTTTGGAAGAACACTGTC -3'
Sequencing Primer
(F):5'- TACGCATTGACAGACGTACATTC -3'
(R):5'- GTCACAAGCTATCTACTGAAACTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation