Incidental Mutation 'IGL03167:Tcf7l1'
| ID |
411690 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcf7l1
|
| Ensembl Gene |
ENSMUSG00000055799 |
| Gene Name |
transcription factor 7 like 1 (T cell specific, HMG box) |
| Synonyms |
Tcf3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03167
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
72603354-72766028 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72609979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 257
(M257T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069536]
[ENSMUST00000114053]
[ENSMUST00000149446]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069536
AA Change: M257T
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000069403
Gene: ENSMUSG00000055799
AA Change: M257T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
248 |
1.3e-77 |
PFAM |
|
HMG
|
342 |
412 |
3.47e-21 |
SMART |
|
low complexity region
|
418 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
545 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000081929
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101278
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114053
AA Change: M271T
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109687
Gene: ENSMUSG00000055799
AA Change: M271T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
262 |
6.9e-91 |
PFAM |
|
HMG
|
356 |
426 |
3.47e-21 |
SMART |
|
low complexity region
|
432 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
508 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
559 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141743
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149446
AA Change: M148T
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115060
Gene: ENSMUSG00000055799
AA Change: M148T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
70 |
9e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195777
|
| 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 T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]
PHENOTYPE: Animals homozygous for a targeted mutation exhibit severe embryological defects particularly affecting the cardiovascular system, nervous system, and digestive system. No homozygous embryos survive beyond E11. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
C |
6: 34,834,594 (GRCm39) |
K921T |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,679,894 (GRCm39) |
|
probably benign |
Het |
| Ankrd22 |
A |
T |
19: 34,143,174 (GRCm39) |
M1K |
probably null |
Het |
| Ano5 |
G |
A |
7: 51,235,259 (GRCm39) |
V698I |
probably damaging |
Het |
| Ccnh |
A |
G |
13: 85,345,685 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,282,635 (GRCm39) |
I771F |
probably damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,523,257 (GRCm39) |
S203P |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,288,802 (GRCm39) |
V82E |
probably damaging |
Het |
| Ffar3 |
A |
T |
7: 30,554,780 (GRCm39) |
V180E |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,700,108 (GRCm39) |
S381G |
probably benign |
Het |
| Foxf1 |
C |
A |
8: 121,811,647 (GRCm39) |
Y170* |
probably null |
Het |
| Glis1 |
A |
G |
4: 107,293,102 (GRCm39) |
D75G |
possibly damaging |
Het |
| Gpr151 |
T |
C |
18: 42,711,439 (GRCm39) |
H413R |
probably benign |
Het |
| Gtf3c1 |
T |
C |
7: 125,269,752 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 34,976,330 (GRCm39) |
F711I |
probably damaging |
Het |
| Il1rapl1 |
A |
G |
X: 85,790,867 (GRCm39) |
I691T |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,821,406 (GRCm39) |
Y579C |
probably benign |
Het |
| Lingo3 |
A |
G |
10: 80,671,178 (GRCm39) |
S251P |
probably damaging |
Het |
| Mbl1 |
T |
A |
14: 40,880,543 (GRCm39) |
S144T |
probably benign |
Het |
| Musk |
A |
T |
4: 58,366,821 (GRCm39) |
R462W |
possibly damaging |
Het |
| Mynn |
T |
C |
3: 30,663,191 (GRCm39) |
L373P |
probably damaging |
Het |
| Myoz2 |
G |
A |
3: 122,800,139 (GRCm39) |
R230* |
probably null |
Het |
| Nup35 |
A |
G |
2: 80,488,660 (GRCm39) |
|
probably benign |
Het |
| Or14a259 |
C |
T |
7: 86,013,128 (GRCm39) |
C139Y |
probably damaging |
Het |
| Or2d4 |
A |
G |
7: 106,543,852 (GRCm39) |
S119P |
probably damaging |
Het |
| Or5ak4 |
C |
T |
2: 85,161,664 (GRCm39) |
D193N |
probably benign |
Het |
| Or5m3 |
T |
A |
2: 85,838,511 (GRCm39) |
Y130* |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,843,919 (GRCm39) |
S618T |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,630,165 (GRCm39) |
|
probably benign |
Het |
| Pparg |
T |
G |
6: 115,450,188 (GRCm39) |
F396V |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,767,108 (GRCm39) |
E441G |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,450,485 (GRCm39) |
C161S |
probably benign |
Het |
| Skint5 |
C |
T |
4: 113,751,047 (GRCm39) |
E333K |
unknown |
Het |
| Slc22a8 |
C |
T |
19: 8,587,322 (GRCm39) |
P461S |
probably damaging |
Het |
| Slc38a6 |
C |
T |
12: 73,397,311 (GRCm39) |
Q318* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 178,021,291 (GRCm39) |
K512E |
probably damaging |
Het |
| Tas2r103 |
T |
A |
6: 133,013,623 (GRCm39) |
N148Y |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,788,119 (GRCm39) |
N792K |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,766,277 (GRCm39) |
V43E |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,467,195 (GRCm39) |
S475P |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,681 (GRCm39) |
V242A |
probably damaging |
Het |
| Ypel3 |
A |
T |
7: 126,379,247 (GRCm39) |
I107F |
probably damaging |
Het |
| Zfp352 |
T |
C |
4: 90,112,939 (GRCm39) |
S360P |
probably damaging |
Het |
|
| Other mutations in Tcf7l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02517:Tcf7l1
|
APN |
6 |
72,606,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0731:Tcf7l1
|
UTSW |
6 |
72,765,252 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2679:Tcf7l1
|
UTSW |
6 |
72,604,403 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2887:Tcf7l1
|
UTSW |
6 |
72,609,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Tcf7l1
|
UTSW |
6 |
72,613,382 (GRCm39) |
intron |
probably benign |
|
|
R4433:Tcf7l1
|
UTSW |
6 |
72,765,752 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4671:Tcf7l1
|
UTSW |
6 |
72,626,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5262:Tcf7l1
|
UTSW |
6 |
72,613,449 (GRCm39) |
intron |
probably benign |
|
|
R5891:Tcf7l1
|
UTSW |
6 |
72,614,034 (GRCm39) |
intron |
probably benign |
|
|
R6767:Tcf7l1
|
UTSW |
6 |
72,608,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7255:Tcf7l1
|
UTSW |
6 |
72,604,330 (GRCm39) |
splice site |
probably null |
|
|
R8206:Tcf7l1
|
UTSW |
6 |
72,604,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8996:Tcf7l1
|
UTSW |
6 |
72,765,563 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9069:Tcf7l1
|
UTSW |
6 |
72,610,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9193:Tcf7l1
|
UTSW |
6 |
72,611,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9439:Tcf7l1
|
UTSW |
6 |
72,765,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9530:Tcf7l1
|
UTSW |
6 |
72,604,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9778:Tcf7l1
|
UTSW |
6 |
72,608,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Tcf7l1
|
UTSW |
6 |
72,765,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation