Incidental Mutation 'R5144:Tcf3'
| ID |
395056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcf3
|
| Ensembl Gene |
ENSMUSG00000020167 |
| Gene Name |
transcription factor 3 |
| Synonyms |
E2A, Pan1, Pan2, A1, bHLHb21, ALF2, E47, E12, Tcfe2a |
| MMRRC Submission |
042728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R5144 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80245348-80269481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80251071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 454
(H454Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020377]
[ENSMUST00000020379]
[ENSMUST00000105339]
[ENSMUST00000105340]
[ENSMUST00000105341]
[ENSMUST00000105342]
[ENSMUST00000105343]
[ENSMUST00000105344]
[ENSMUST00000105345]
[ENSMUST00000105346]
[ENSMUST00000156244]
|
| AlphaFold |
P15806 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020377
AA Change: H458Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020377
Gene: ENSMUSG00000020167
AA Change: H458Y
| 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: H458Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020379
Gene: ENSMUSG00000020167
AA Change: H458Y
| 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: H454Y
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100976
Gene: ENSMUSG00000020167
AA Change: H454Y
| 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 |
possibly damaging
Transcript: ENSMUST00000105340
AA Change: H458Y
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000100977
Gene: ENSMUSG00000020167
AA Change: H458Y
| 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: H454Y
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100978
Gene: ENSMUSG00000020167
AA Change: H454Y
| 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: H459Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100979
Gene: ENSMUSG00000020167
AA Change: H459Y
| 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 |
possibly damaging
Transcript: ENSMUST00000105343
AA Change: H458Y
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100980
Gene: ENSMUSG00000020167
AA Change: H458Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000129027
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105344
AA Change: H459Y
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100981
Gene: ENSMUSG00000020167
AA Change: H459Y
| 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: ENSMUST00000105345
AA Change: H457Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100982
Gene: ENSMUSG00000020167
AA Change: H457Y
| 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: H457Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100983
Gene: ENSMUSG00000020167
AA Change: H457Y
| 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 |
unknown
Transcript: ENSMUST00000156990
AA Change: H446Y
|
| SMART Domains |
Protein: ENSMUSP00000121172
Gene: ENSMUSG00000020167
AA Change: H446Y
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156244
|
| SMART Domains |
Protein: ENSMUSP00000120303
Gene: ENSMUSG00000020167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0631 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
96% (47/49) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
T |
A |
2: 68,446,604 (GRCm39) |
|
probably benign |
Het |
| Arpc2 |
A |
T |
1: 74,287,367 (GRCm39) |
K62N |
probably damaging |
Het |
| B4galt5 |
C |
T |
2: 167,148,516 (GRCm39) |
E201K |
possibly damaging |
Het |
| Bub1b |
C |
T |
2: 118,445,980 (GRCm39) |
T334M |
possibly damaging |
Het |
| Ccdc71 |
T |
C |
9: 108,341,051 (GRCm39) |
V288A |
probably benign |
Het |
| Cep350 |
G |
A |
1: 155,786,896 (GRCm39) |
R1444W |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,666,623 (GRCm39) |
L605P |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,766,482 (GRCm39) |
I1813F |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,278,434 (GRCm39) |
I821V |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,847 (GRCm39) |
D43G |
probably damaging |
Het |
| Depdc7 |
T |
C |
2: 104,560,598 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dppa2 |
T |
C |
16: 48,137,666 (GRCm39) |
V216A |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,020,325 (GRCm39) |
N598K |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,162,238 (GRCm39) |
T195A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,058,895 (GRCm39) |
V1883A |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,241,935 (GRCm39) |
D150V |
probably benign |
Het |
| Kcnb1 |
T |
A |
2: 166,947,864 (GRCm39) |
Y328F |
probably damaging |
Het |
| Kcnj3 |
G |
A |
2: 55,337,059 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
G |
11: 62,240,290 (GRCm39) |
S894R |
probably damaging |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Nudt19 |
T |
C |
7: 35,254,650 (GRCm39) |
T194A |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,156 (GRCm39) |
T33S |
probably benign |
Het |
| Or8b53 |
C |
T |
9: 38,667,689 (GRCm39) |
S235L |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,784,703 (GRCm39) |
R102S |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,950,021 (GRCm39) |
N1332S |
probably benign |
Het |
| Plppr1 |
T |
A |
4: 49,319,800 (GRCm39) |
V142E |
possibly damaging |
Het |
| Prdm6 |
C |
A |
18: 53,598,110 (GRCm39) |
|
probably benign |
Het |
| Prm2 |
T |
A |
16: 10,609,732 (GRCm39) |
|
probably benign |
Het |
| Prmt3 |
T |
C |
7: 49,435,883 (GRCm39) |
S155P |
possibly damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,793 (GRCm39) |
Y481H |
probably benign |
Het |
| Rgs2 |
G |
A |
1: 143,877,437 (GRCm39) |
T206M |
probably benign |
Het |
| Slc2a8 |
C |
T |
2: 32,871,785 (GRCm39) |
R56H |
probably damaging |
Het |
| Spmip11 |
C |
A |
15: 98,483,148 (GRCm39) |
|
probably null |
Het |
| Stk35 |
T |
A |
2: 129,652,855 (GRCm39) |
M452K |
probably damaging |
Het |
| Tgm3 |
C |
T |
2: 129,890,202 (GRCm39) |
S655F |
possibly damaging |
Het |
| Tssc4 |
T |
G |
7: 142,623,770 (GRCm39) |
L26R |
probably damaging |
Het |
| Utp11 |
A |
T |
4: 124,572,695 (GRCm39) |
|
probably benign |
Het |
| Vmn1r237 |
C |
G |
17: 21,534,688 (GRCm39) |
A137G |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vps8 |
T |
C |
16: 21,378,103 (GRCm39) |
L1038P |
probably damaging |
Het |
| Wipf3 |
C |
T |
6: 54,462,660 (GRCm39) |
A290V |
probably damaging |
Het |
| Zdhhc25 |
T |
G |
15: 88,485,259 (GRCm39) |
L198R |
probably damaging |
Het |
| Zdhhc6 |
A |
T |
19: 55,302,998 (GRCm39) |
M1K |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGGTCAGCACATTCATG -3'
(R):5'- GCGATCTCCATGGGCTTTTG -3'
Sequencing Primer
(F):5'- GGCTCTAGGGTATCCAGTTCAAAC -3'
(R):5'- GCACTGACCACGAGCTTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation