Incidental Mutation 'IGL02558:Tfdp1'
| ID |
298368 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tfdp1
|
| Ensembl Gene |
ENSMUSG00000038482 |
| Gene Name |
transcription factor Dp 1 |
| Synonyms |
Drtf1, Dp1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02558
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13388751-13428448 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13419546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 92
(N92D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170909]
[ENSMUST00000209282]
[ENSMUST00000209396]
[ENSMUST00000209885]
[ENSMUST00000209945]
[ENSMUST00000210165]
[ENSMUST00000210501]
|
| AlphaFold |
Q08639 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170909
AA Change: N92D
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127952
Gene: ENSMUSG00000038482
AA Change: N92D
| Domain | Start | End | E-Value | Type |
|---|
|
E2F_TDP
|
111 |
193 |
1.51e-34 |
SMART |
|
DP
|
200 |
344 |
4.07e-90 |
SMART |
|
low complexity region
|
395 |
410 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209282
AA Change: N92D
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209396
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209885
AA Change: N92D
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209945
AA Change: N28D
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210165
AA Change: N34D
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210501
AA Change: N92D
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210518
|
| 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 a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced expansion of the ectoplacental cone and chorion, small yolk sacs, and impaired endoreduplication in trophoblast giant cells. Mutants die by embryonic day 12.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
C |
5: 3,632,194 (GRCm39) |
*25C |
probably null |
Het |
| Abca13 |
T |
C |
11: 9,349,387 (GRCm39) |
Y3654H |
probably damaging |
Het |
| Ankle1 |
T |
C |
8: 71,861,636 (GRCm39) |
F438S |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,469,390 (GRCm39) |
R1080S |
probably damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,921,252 (GRCm39) |
N380Y |
probably damaging |
Het |
| Ccr8 |
A |
T |
9: 119,923,724 (GRCm39) |
I280F |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,107,786 (GRCm39) |
T535A |
probably benign |
Het |
| Cep162 |
G |
T |
9: 87,107,779 (GRCm39) |
T537N |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,964 (GRCm39) |
D35G |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,175,827 (GRCm39) |
S530N |
probably damaging |
Het |
| Col9a3 |
A |
T |
2: 180,248,599 (GRCm39) |
|
probably null |
Het |
| Csf3r |
T |
C |
4: 125,931,928 (GRCm39) |
|
probably benign |
Het |
| Csk |
C |
T |
9: 57,537,546 (GRCm39) |
E123K |
probably benign |
Het |
| Csrnp3 |
G |
A |
2: 65,852,573 (GRCm39) |
E322K |
probably damaging |
Het |
| Ddx11 |
A |
T |
17: 66,455,667 (GRCm39) |
I663F |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,996,336 (GRCm39) |
M2667L |
possibly damaging |
Het |
| Foxred1 |
T |
C |
9: 35,121,429 (GRCm39) |
K40E |
probably damaging |
Het |
| Gata2 |
C |
T |
6: 88,176,762 (GRCm39) |
P74S |
probably benign |
Het |
| Gdf10 |
T |
G |
14: 33,645,937 (GRCm39) |
C29G |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,482,848 (GRCm39) |
E3133G |
probably benign |
Het |
| Ints8 |
G |
A |
4: 11,218,771 (GRCm39) |
R784W |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 102,982,144 (GRCm39) |
E1392G |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,781,816 (GRCm39) |
|
noncoding transcript |
Het |
| Myom2 |
A |
T |
8: 15,164,237 (GRCm39) |
D1044V |
probably benign |
Het |
| Nphp4 |
G |
T |
4: 152,639,988 (GRCm39) |
R958L |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,166,859 (GRCm39) |
P293S |
probably damaging |
Het |
| Or10ag60 |
T |
C |
2: 87,437,903 (GRCm39) |
I57T |
probably benign |
Het |
| Or1e17 |
A |
T |
11: 73,831,651 (GRCm39) |
H193L |
probably benign |
Het |
| Plxdc2 |
A |
G |
2: 16,674,409 (GRCm39) |
|
probably benign |
Het |
| Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
| Siglec1 |
G |
T |
2: 130,916,915 (GRCm39) |
S1113R |
possibly damaging |
Het |
| Sirpa |
A |
G |
2: 129,471,989 (GRCm39) |
E472G |
probably damaging |
Het |
| Slc39a4 |
G |
T |
15: 76,498,403 (GRCm39) |
L345M |
probably damaging |
Het |
| Snx27 |
C |
T |
3: 94,410,188 (GRCm39) |
R496Q |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,527,388 (GRCm39) |
H1215R |
possibly damaging |
Het |
| Stau1 |
A |
G |
2: 166,792,768 (GRCm39) |
Y371H |
probably benign |
Het |
| Sult2a1 |
A |
C |
7: 13,566,520 (GRCm39) |
W152G |
probably benign |
Het |
| Syt16 |
A |
T |
12: 74,281,832 (GRCm39) |
K319* |
probably null |
Het |
| Tcf7 |
T |
A |
11: 52,144,797 (GRCm39) |
|
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
|
| Other mutations in Tfdp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
gangly
|
UTSW |
8 |
13,407,038 (GRCm39) |
splice site |
probably null |
|
|
PIT1430001:Tfdp1
|
UTSW |
8 |
13,422,526 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1139:Tfdp1
|
UTSW |
8 |
13,423,000 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1264:Tfdp1
|
UTSW |
8 |
13,423,837 (GRCm39) |
splice site |
probably benign |
|
|
R1485:Tfdp1
|
UTSW |
8 |
13,420,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1967:Tfdp1
|
UTSW |
8 |
13,423,039 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4849:Tfdp1
|
UTSW |
8 |
13,423,895 (GRCm39) |
missense |
probably benign |
|
|
R4965:Tfdp1
|
UTSW |
8 |
13,423,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5257:Tfdp1
|
UTSW |
8 |
13,419,529 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5258:Tfdp1
|
UTSW |
8 |
13,419,529 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5895:Tfdp1
|
UTSW |
8 |
13,407,038 (GRCm39) |
splice site |
probably null |
|
|
R6785:Tfdp1
|
UTSW |
8 |
13,427,233 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6785:Tfdp1
|
UTSW |
8 |
13,420,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6786:Tfdp1
|
UTSW |
8 |
13,420,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8144:Tfdp1
|
UTSW |
8 |
13,423,015 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9292:Tfdp1
|
UTSW |
8 |
13,420,580 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9469:Tfdp1
|
UTSW |
8 |
13,422,965 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Posted On |
2015-04-16 |
Incidental Mutation