Incidental Mutation 'IGL02676:Tcf3'
| ID |
303148 |
| 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: 0.951)
|
| Stock # |
IGL02676
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80245348-80269481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80256925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 64
(G64R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020377]
[ENSMUST00000020379]
[ENSMUST00000105339]
[ENSMUST00000105340]
[ENSMUST00000105341]
[ENSMUST00000105342]
[ENSMUST00000105343]
[ENSMUST00000105345]
[ENSMUST00000105346]
[ENSMUST00000105344]
[ENSMUST00000156244]
|
| AlphaFold |
P15806 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020377
AA Change: G100R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020377
Gene: ENSMUSG00000020167
AA Change: G100R
| 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 damaging
Transcript: ENSMUST00000020379
AA Change: G100R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020379
Gene: ENSMUSG00000020167
AA Change: G100R
| 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 |
possibly damaging
Transcript: ENSMUST00000105339
AA Change: G100R
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100976
Gene: ENSMUSG00000020167
AA Change: G100R
| 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 damaging
Transcript: ENSMUST00000105340
AA Change: G100R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000100977
Gene: ENSMUSG00000020167
AA Change: G100R
| 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 |
possibly damaging
Transcript: ENSMUST00000105341
AA Change: G100R
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100978
Gene: ENSMUSG00000020167
AA Change: G100R
| 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 |
probably damaging
Transcript: ENSMUST00000105342
AA Change: G100R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000100979
Gene: ENSMUSG00000020167
AA Change: G100R
| 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 damaging
Transcript: ENSMUST00000105343
AA Change: G100R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000100980
Gene: ENSMUSG00000020167
AA Change: G100R
| 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 |
probably damaging
Transcript: ENSMUST00000105345
AA Change: G100R
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100982
Gene: ENSMUSG00000020167
AA Change: G100R
| 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 damaging
Transcript: ENSMUST00000105346
AA Change: G100R
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100983
Gene: ENSMUSG00000020167
AA Change: G100R
| 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 |
probably damaging
Transcript: ENSMUST00000105344
AA Change: G100R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000100981
Gene: ENSMUSG00000020167
AA Change: G100R
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156244
AA Change: G64R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120303
Gene: ENSMUSG00000020167
AA Change: G64R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156990
AA Change: G91R
|
| SMART Domains |
Protein: ENSMUSP00000121172
Gene: ENSMUSG00000020167
AA Change: G91R
| 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 |
noncoding transcript
Transcript: ENSMUST00000127931
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
G |
A |
18: 34,448,687 (GRCm39) |
S1827N |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,680,316 (GRCm39) |
C739S |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,977 (GRCm39) |
E2622G |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,440,530 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,027,563 (GRCm39) |
L330Q |
probably damaging |
Het |
| Clcnka |
A |
T |
4: 141,120,094 (GRCm39) |
V275E |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,135,616 (GRCm39) |
S456N |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,361 (GRCm39) |
I1909N |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,553,626 (GRCm39) |
I176T |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,346,668 (GRCm39) |
R7717G |
probably damaging |
Het |
| Eml2 |
C |
T |
7: 18,918,846 (GRCm39) |
R99* |
probably null |
Het |
| Fibin |
T |
C |
2: 110,192,929 (GRCm39) |
Q71R |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,812,501 (GRCm39) |
I2940S |
possibly damaging |
Het |
| Gabrb3 |
G |
T |
7: 57,241,112 (GRCm39) |
|
probably benign |
Het |
| Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
| Gm6483 |
C |
T |
8: 19,743,675 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl1 |
G |
A |
13: 26,953,348 (GRCm39) |
R242C |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,494,760 (GRCm39) |
T4110A |
probably benign |
Het |
| Lama2 |
T |
G |
10: 26,994,489 (GRCm39) |
M1807L |
probably benign |
Het |
| Larp4 |
T |
C |
15: 99,888,302 (GRCm39) |
V113A |
possibly damaging |
Het |
| Mkx |
T |
C |
18: 7,000,640 (GRCm39) |
T101A |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,718,491 (GRCm39) |
F15L |
probably damaging |
Het |
| Nherf2 |
A |
T |
17: 24,860,930 (GRCm39) |
V204E |
probably damaging |
Het |
| Nif3l1 |
G |
A |
1: 58,494,895 (GRCm39) |
|
probably null |
Het |
| Nop14 |
A |
G |
5: 34,796,565 (GRCm39) |
V764A |
probably damaging |
Het |
| Nosip |
C |
A |
7: 44,726,752 (GRCm39) |
A259E |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,341,300 (GRCm39) |
|
probably benign |
Het |
| Or9g20 |
T |
C |
2: 85,629,934 (GRCm39) |
I227V |
possibly damaging |
Het |
| Phospho1 |
G |
A |
11: 95,721,714 (GRCm39) |
G128D |
probably damaging |
Het |
| Ppp4r3a |
G |
A |
12: 101,008,770 (GRCm39) |
T703M |
probably benign |
Het |
| Pramel21 |
T |
C |
4: 143,342,667 (GRCm39) |
F258S |
possibly damaging |
Het |
| Pramel58 |
A |
G |
5: 94,831,730 (GRCm39) |
T246A |
possibly damaging |
Het |
| Prdm8 |
G |
A |
5: 98,334,418 (GRCm39) |
E662K |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,202 (GRCm39) |
S1775P |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,540,172 (GRCm39) |
|
probably benign |
Het |
| Rasef |
T |
C |
4: 73,677,966 (GRCm39) |
T87A |
possibly damaging |
Het |
| Scrn3 |
A |
G |
2: 73,160,215 (GRCm39) |
Q286R |
probably benign |
Het |
| Sema3d |
A |
T |
5: 12,620,945 (GRCm39) |
Q517L |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,752,413 (GRCm39) |
Y425C |
probably damaging |
Het |
| Tbk1 |
T |
C |
10: 121,403,985 (GRCm39) |
N254S |
possibly damaging |
Het |
| Tmco4 |
T |
C |
4: 138,750,380 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
A |
G |
8: 47,946,448 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,025 (GRCm39) |
I193F |
possibly damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,367,882 (GRCm39) |
T370I |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,381 (GRCm39) |
H845L |
possibly damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,285,521 (GRCm39) |
T114S |
probably benign |
Het |
| Zfp280d |
A |
T |
9: 72,242,356 (GRCm39) |
R661S |
probably damaging |
Het |
| Zranb1 |
T |
C |
7: 132,568,410 (GRCm39) |
I356T |
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 |
|
IGL03066:Tcf3
|
APN |
10 |
80,248,879 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2015-04-16 |
Incidental Mutation