Incidental Mutation 'IGL03066:Tcf3'
| ID |
409692 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcf3
|
| Ensembl Gene |
ENSMUSG00000020167 |
| Gene Name |
transcription factor 3 |
| Synonyms |
E2A, Pan1, Pan2, A1, bHLHb21, ALF2, E47, E12, Tcfe2a |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
IGL03066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80245348-80269481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80248879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 529
(D529G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020377]
[ENSMUST00000020379]
[ENSMUST00000105339]
[ENSMUST00000105340]
[ENSMUST00000105341]
[ENSMUST00000105342]
[ENSMUST00000105343]
[ENSMUST00000105346]
[ENSMUST00000105345]
[ENSMUST00000105344]
|
| AlphaFold |
P15806 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020377
AA Change: D533G
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020377
Gene: ENSMUSG00000020167
AA Change: D533G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
HLH
|
553 |
606 |
2.66e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020379
|
| SMART Domains |
Protein: ENSMUSP00000020379
Gene: ENSMUSG00000020167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
506 |
N/A |
INTRINSIC |
|
HLH
|
550 |
603 |
8.79e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105339
AA Change: D529G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100976
Gene: ENSMUSG00000020167
AA Change: D529G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
535 |
N/A |
INTRINSIC |
|
HLH
|
549 |
602 |
2.66e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105340
|
| SMART Domains |
Protein: ENSMUSP00000100977
Gene: ENSMUSG00000020167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
506 |
N/A |
INTRINSIC |
|
HLH
|
549 |
602 |
8.79e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105341
|
| SMART Domains |
Protein: ENSMUSP00000100978
Gene: ENSMUSG00000020167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
502 |
N/A |
INTRINSIC |
|
HLH
|
546 |
599 |
8.79e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105342
AA Change: D534G
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100979
Gene: ENSMUSG00000020167
AA Change: D534G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
540 |
N/A |
INTRINSIC |
|
HLH
|
554 |
607 |
2.66e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105343
|
| SMART Domains |
Protein: ENSMUSP00000100980
Gene: ENSMUSG00000020167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
506 |
N/A |
INTRINSIC |
|
HLH
|
550 |
603 |
8.79e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105346
AA Change: D532G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100983
Gene: ENSMUSG00000020167
AA Change: D532G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
538 |
N/A |
INTRINSIC |
|
HLH
|
552 |
605 |
2.66e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129027
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105345
|
| SMART Domains |
Protein: ENSMUSP00000100982
Gene: ENSMUSG00000020167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
505 |
N/A |
INTRINSIC |
|
HLH
|
549 |
602 |
8.79e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156990
|
| SMART Domains |
Protein: ENSMUSP00000121172
Gene: ENSMUSG00000020167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
HLH
|
539 |
592 |
8.79e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105344
|
| SMART Domains |
Protein: ENSMUSP00000100981
Gene: ENSMUSG00000020167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
HLH
|
551 |
604 |
8.79e-11 |
SMART |
|
| 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 E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for targeted null mutations are devoid of mature B cells, have a partial early block in T-lymphocyte development, and show high postnatal mortality. Many survivors develop T-cell lymphomas between 3 and 10 months of age. [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 |
|---|
| Brd4 |
A |
C |
17: 32,418,062 (GRCm39) |
|
probably benign |
Het |
| Cd209d |
C |
A |
8: 3,928,437 (GRCm39) |
|
probably null |
Het |
| Cela2a |
T |
A |
4: 141,548,765 (GRCm39) |
I124F |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,335,262 (GRCm39) |
N245K |
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,765,183 (GRCm39) |
F148L |
probably benign |
Het |
| Ctsj |
A |
C |
13: 61,152,302 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Cul4a |
A |
G |
8: 13,183,776 (GRCm39) |
N388S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,369,089 (GRCm39) |
T4287A |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,562,758 (GRCm39) |
C534F |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,596,001 (GRCm39) |
E49G |
probably benign |
Het |
| Fancm |
G |
T |
12: 65,171,888 (GRCm39) |
E86* |
probably null |
Het |
| Galnt17 |
A |
T |
5: 130,929,486 (GRCm39) |
S440R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lctl |
T |
G |
9: 64,025,017 (GRCm39) |
M1R |
probably null |
Het |
| Llgl1 |
A |
G |
11: 60,596,860 (GRCm39) |
T154A |
possibly damaging |
Het |
| Mink1 |
G |
T |
11: 70,499,715 (GRCm39) |
V750F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,549,595 (GRCm39) |
V950A |
possibly damaging |
Het |
| Myg1 |
G |
A |
15: 102,242,801 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,778 (GRCm39) |
I172F |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,419,305 (GRCm39) |
R57S |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,667 (GRCm39) |
H54R |
probably benign |
Het |
| Pask |
A |
T |
1: 93,258,588 (GRCm39) |
S253R |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,208 (GRCm39) |
H3253Q |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,971,523 (GRCm39) |
|
probably benign |
Het |
| Rnf169 |
G |
T |
7: 99,574,760 (GRCm39) |
R612S |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,278 (GRCm39) |
D104E |
probably benign |
Het |
| Shh |
G |
T |
5: 28,666,369 (GRCm39) |
D172E |
probably damaging |
Het |
| Sil1 |
G |
T |
18: 35,402,259 (GRCm39) |
|
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 82,992,557 (GRCm39) |
I388T |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,149,457 (GRCm39) |
Y946C |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,878,168 (GRCm39) |
I219F |
probably damaging |
Het |
| Txnip |
G |
A |
3: 96,466,934 (GRCm39) |
E203K |
probably damaging |
Het |
| Ubc |
G |
T |
5: 125,465,327 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
A |
T |
1: 128,188,591 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,268,721 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,472,574 (GRCm39) |
N49I |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,339 (GRCm39) |
I292N |
probably damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,044 (GRCm39) |
I137M |
probably benign |
Het |
|
| Other mutations in Tcf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01798:Tcf3
|
APN |
10 |
80,249,043 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02676:Tcf3
|
APN |
10 |
80,256,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Tcf3
|
UTSW |
10 |
80,248,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Tcf3
|
UTSW |
10 |
80,256,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0624:Tcf3
|
UTSW |
10 |
80,249,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Tcf3
|
UTSW |
10 |
80,246,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5034:Tcf3
|
UTSW |
10 |
80,253,377 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5144:Tcf3
|
UTSW |
10 |
80,251,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5347:Tcf3
|
UTSW |
10 |
80,246,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Tcf3
|
UTSW |
10 |
80,263,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Tcf3
|
UTSW |
10 |
80,257,450 (GRCm39) |
intron |
probably benign |
|
|
R5786:Tcf3
|
UTSW |
10 |
80,255,333 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5941:Tcf3
|
UTSW |
10 |
80,248,878 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6857:Tcf3
|
UTSW |
10 |
80,252,733 (GRCm39) |
splice site |
probably null |
|
|
R6982:Tcf3
|
UTSW |
10 |
80,253,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Tcf3
|
UTSW |
10 |
80,257,433 (GRCm39) |
missense |
unknown |
|
|
R7840:Tcf3
|
UTSW |
10 |
80,246,301 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8336:Tcf3
|
UTSW |
10 |
80,257,000 (GRCm39) |
missense |
probably benign |
|
|
R8958:Tcf3
|
UTSW |
10 |
80,246,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Tcf3
|
UTSW |
10 |
80,253,191 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9271:Tcf3
|
UTSW |
10 |
80,253,191 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9429:Tcf3
|
UTSW |
10 |
80,252,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Tcf3
|
UTSW |
10 |
80,253,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation