Incidental Mutation 'R5034:Tcf3'
ID |
452846 |
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 |
042625-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R5034 (G1)
|
Quality Score |
80 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
80245348-80269481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80253377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 218
(V218A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100981
(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 benign
Transcript: ENSMUST00000020377
AA Change: V218A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000020377 Gene: ENSMUSG00000020167 AA Change: V218A
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
AA Change: V217A
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000020379 Gene: ENSMUSG00000020167 AA Change: V217A
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 benign
Transcript: ENSMUST00000105339
AA Change: V217A
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000100976 Gene: ENSMUSG00000020167 AA Change: V217A
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
AA Change: V217A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000100977 Gene: ENSMUSG00000020167 AA Change: V217A
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
AA Change: V217A
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000100978 Gene: ENSMUSG00000020167 AA Change: V217A
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 benign
Transcript: ENSMUST00000105342
AA Change: V218A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000100979 Gene: ENSMUSG00000020167 AA Change: V218A
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
AA Change: V218A
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000100980 Gene: ENSMUSG00000020167 AA Change: V218A
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: ENSMUST00000105344
AA Change: V218A
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000100981 Gene: ENSMUSG00000020167 AA Change: V218A
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 benign
Transcript: ENSMUST00000105345
AA Change: V217A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000100982 Gene: ENSMUSG00000020167 AA Change: V217A
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: ENSMUST00000105346
AA Change: V217A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000100983 Gene: ENSMUSG00000020167 AA Change: V217A
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: V209A
|
SMART Domains |
Protein: ENSMUSP00000121172 Gene: ENSMUSG00000020167 AA Change: V209A
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: ENSMUST00000129027
|
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 |
0.1646 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
97% (67/69) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,136,090 (GRCm39) |
S482T |
probably benign |
Het |
Adam6b |
G |
T |
12: 113,454,547 (GRCm39) |
G455C |
probably damaging |
Het |
Ahsg |
C |
A |
16: 22,717,650 (GRCm39) |
P237Q |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,552,193 (GRCm39) |
S1312G |
probably damaging |
Het |
Brinp3 |
C |
T |
1: 146,603,458 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,564,649 (GRCm39) |
H1677R |
probably damaging |
Het |
Cops7a |
A |
G |
6: 124,939,583 (GRCm39) |
|
probably null |
Het |
Csmd2 |
G |
A |
4: 127,952,901 (GRCm39) |
A117T |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,492,683 (GRCm39) |
R3153G |
possibly damaging |
Het |
Dctn4 |
A |
G |
18: 60,685,956 (GRCm39) |
N342D |
probably benign |
Het |
Dennd5a |
A |
T |
7: 109,499,004 (GRCm39) |
I953N |
probably damaging |
Het |
Dmwd |
T |
C |
7: 18,814,219 (GRCm39) |
S290P |
probably damaging |
Het |
Dsc1 |
T |
A |
18: 20,228,084 (GRCm39) |
Y424F |
possibly damaging |
Het |
Far2 |
C |
A |
6: 148,074,939 (GRCm39) |
L391M |
probably benign |
Het |
Foxd3 |
G |
A |
4: 99,545,327 (GRCm39) |
G156S |
probably damaging |
Het |
Galk2 |
A |
T |
2: 125,771,495 (GRCm39) |
E173D |
probably benign |
Het |
Hcar1 |
T |
C |
5: 124,017,732 (GRCm39) |
|
probably benign |
Het |
Hsd17b11 |
C |
T |
5: 104,166,087 (GRCm39) |
V91M |
possibly damaging |
Het |
Ighv1-77 |
C |
T |
12: 115,825,494 (GRCm39) |
C115Y |
probably damaging |
Het |
Ighv9-2 |
A |
G |
12: 114,073,025 (GRCm39) |
F9S |
probably damaging |
Het |
Kdm6b |
A |
G |
11: 69,292,736 (GRCm39) |
|
probably benign |
Het |
Kif21a |
T |
A |
15: 90,852,561 (GRCm39) |
R890W |
probably null |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Magel2 |
A |
T |
7: 62,029,616 (GRCm39) |
H840L |
unknown |
Het |
Mrgpra4 |
A |
G |
7: 47,631,317 (GRCm39) |
F95L |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,104,440 (GRCm39) |
L1436P |
probably damaging |
Het |
Nf1 |
C |
T |
11: 79,334,976 (GRCm39) |
P943S |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,952,502 (GRCm39) |
R4153* |
probably null |
Het |
Oosp2 |
T |
C |
19: 11,628,899 (GRCm39) |
I67M |
probably damaging |
Het |
Or5m13b |
C |
A |
2: 85,753,891 (GRCm39) |
S93Y |
probably damaging |
Het |
Pcdh9 |
T |
A |
14: 93,564,285 (GRCm39) |
D1023V |
probably benign |
Het |
Pcdhb14 |
T |
C |
18: 37,581,859 (GRCm39) |
S322P |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,151,231 (GRCm39) |
D285G |
probably benign |
Het |
Pde5a |
G |
C |
3: 122,646,235 (GRCm39) |
G809R |
probably damaging |
Het |
Pde5a |
G |
T |
3: 122,646,236 (GRCm39) |
G809V |
probably damaging |
Het |
Pphln1 |
T |
C |
15: 93,350,010 (GRCm39) |
V120A |
probably benign |
Het |
Rictor |
T |
C |
15: 6,797,576 (GRCm39) |
S311P |
probably damaging |
Het |
Rilpl1 |
T |
C |
5: 124,631,887 (GRCm39) |
D153G |
probably damaging |
Het |
Rmdn3 |
G |
T |
2: 118,978,058 (GRCm39) |
A181E |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,301,633 (GRCm39) |
V369M |
probably damaging |
Het |
Scyl1 |
T |
A |
19: 5,810,022 (GRCm39) |
R601S |
probably benign |
Het |
Sdcbp |
G |
A |
4: 6,393,118 (GRCm39) |
|
probably null |
Het |
Septin8 |
A |
G |
11: 53,425,265 (GRCm39) |
T53A |
probably damaging |
Het |
Sfpq |
A |
G |
4: 126,917,462 (GRCm39) |
|
probably benign |
Het |
Slc35b3 |
A |
G |
13: 39,127,134 (GRCm39) |
Y163H |
probably damaging |
Het |
Sra1 |
A |
G |
18: 36,812,048 (GRCm39) |
|
probably null |
Het |
Sspo |
A |
T |
6: 48,457,757 (GRCm39) |
N3231Y |
possibly damaging |
Het |
Tgm3 |
T |
C |
2: 129,879,404 (GRCm39) |
V332A |
possibly damaging |
Het |
Tmprss11f |
C |
T |
5: 86,739,243 (GRCm39) |
|
probably benign |
Het |
Trbv4 |
A |
G |
6: 41,036,624 (GRCm39) |
T50A |
probably benign |
Het |
Trdv2-2 |
C |
A |
14: 54,198,882 (GRCm39) |
Y57* |
probably null |
Het |
Trim50 |
T |
C |
5: 135,396,147 (GRCm39) |
V365A |
possibly damaging |
Het |
Ubash3b |
T |
C |
9: 40,941,036 (GRCm39) |
Q245R |
probably benign |
Het |
Ulk3 |
T |
A |
9: 57,501,047 (GRCm39) |
V338E |
possibly damaging |
Het |
Usf3 |
A |
C |
16: 44,036,762 (GRCm39) |
K414T |
probably damaging |
Het |
Usp48 |
C |
T |
4: 137,334,068 (GRCm39) |
R161* |
probably null |
Het |
Vps18 |
A |
T |
2: 119,123,787 (GRCm39) |
D238V |
probably benign |
Het |
Vps35l |
T |
C |
7: 118,390,611 (GRCm39) |
V368A |
probably damaging |
Het |
Zfp354c |
T |
C |
11: 50,705,866 (GRCm39) |
E403G |
probably benign |
Het |
Zscan18 |
A |
G |
7: 12,508,072 (GRCm39) |
V476A |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACCTACCATGCGATCCTG -3'
(R):5'- CATTAGGTTTCTAGGACCTCCAG -3'
Sequencing Primer
(F):5'- ATGCGATCCTGCTGCTG -3'
(R):5'- TCCAGGGCCTAGGCATG -3'
|
Posted On |
2017-01-19 |