Incidental Mutation 'R5786:Tcf3'
ID |
448028 |
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 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.951)
|
Stock # |
R5786 (G1)
|
Quality Score |
172 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80245348-80269481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80255333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 157
(N157S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100978
(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: N157S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000020377 Gene: ENSMUSG00000020167 AA Change: N157S
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: N157S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000020379 Gene: ENSMUSG00000020167 AA Change: N157S
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: N157S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000100976 Gene: ENSMUSG00000020167 AA Change: N157S
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: N157S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000100977 Gene: ENSMUSG00000020167 AA Change: N157S
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: N157S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000100978 Gene: ENSMUSG00000020167 AA Change: N157S
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: N157S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000100979 Gene: ENSMUSG00000020167 AA Change: N157S
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: N157S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000100980 Gene: ENSMUSG00000020167 AA Change: N157S
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 benign
Transcript: ENSMUST00000105344
AA Change: N157S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000100981 Gene: ENSMUSG00000020167 AA Change: N157S
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: N157S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000100982 Gene: ENSMUSG00000020167 AA Change: N157S
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: N157S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000100983 Gene: ENSMUSG00000020167 AA Change: N157S
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 benign
Transcript: ENSMUST00000156990
AA Change: N148S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121172 Gene: ENSMUSG00000020167 AA Change: N148S
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
T |
A |
6: 40,945,122 (GRCm39) |
D200E |
probably damaging |
Het |
4930578I06Rik |
C |
A |
14: 64,210,691 (GRCm39) |
R179L |
probably damaging |
Het |
Abhd5 |
A |
G |
9: 122,192,868 (GRCm39) |
|
probably null |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
Apob |
C |
T |
12: 8,065,304 (GRCm39) |
T4091I |
possibly damaging |
Het |
Avil |
G |
A |
10: 126,852,368 (GRCm39) |
|
probably null |
Het |
Cacna1a |
T |
C |
8: 85,142,350 (GRCm39) |
|
probably benign |
Het |
Capn7 |
T |
C |
14: 31,082,102 (GRCm39) |
L436P |
probably damaging |
Het |
Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
Ccr6 |
T |
C |
17: 8,475,244 (GRCm39) |
S150P |
probably damaging |
Het |
Cd1d1 |
T |
C |
3: 86,906,095 (GRCm39) |
N60S |
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,446,641 (GRCm39) |
|
probably null |
Het |
Col15a1 |
A |
G |
4: 47,280,865 (GRCm39) |
E753G |
possibly damaging |
Het |
Col1a2 |
C |
T |
6: 4,530,223 (GRCm39) |
R699W |
unknown |
Het |
Cracd |
T |
C |
5: 77,014,043 (GRCm39) |
|
probably null |
Het |
Csf2rb |
T |
C |
15: 78,233,155 (GRCm39) |
Y821H |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,799,284 (GRCm39) |
I301T |
possibly damaging |
Het |
Dpp3 |
C |
T |
19: 4,968,350 (GRCm39) |
G241R |
possibly damaging |
Het |
Dpyd |
G |
T |
3: 119,220,886 (GRCm39) |
M952I |
probably damaging |
Het |
Dsg3 |
A |
T |
18: 20,654,628 (GRCm39) |
I111L |
possibly damaging |
Het |
Ect2 |
A |
G |
3: 27,201,102 (GRCm39) |
F123L |
probably damaging |
Het |
Ehmt2 |
G |
C |
17: 35,129,719 (GRCm39) |
D961H |
probably damaging |
Het |
Esp1 |
A |
G |
17: 41,041,809 (GRCm39) |
I34V |
probably benign |
Het |
Fam171b |
G |
A |
2: 83,708,580 (GRCm39) |
V361I |
probably benign |
Het |
Flnc |
T |
A |
6: 29,459,536 (GRCm39) |
Y2545* |
probably null |
Het |
Fmo4 |
C |
T |
1: 162,631,286 (GRCm39) |
G227D |
probably benign |
Het |
Grn |
C |
T |
11: 102,324,869 (GRCm39) |
Q153* |
probably null |
Het |
H2-DMb1 |
T |
G |
17: 34,372,408 (GRCm39) |
S12R |
possibly damaging |
Het |
Ica1 |
G |
T |
6: 8,672,391 (GRCm39) |
N203K |
possibly damaging |
Het |
Kdm4c |
C |
A |
4: 74,277,722 (GRCm39) |
T792K |
probably damaging |
Het |
Kif19a |
T |
A |
11: 114,670,049 (GRCm39) |
Y81* |
probably null |
Het |
Kifc2 |
G |
T |
15: 76,548,578 (GRCm39) |
C440F |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,537,268 (GRCm39) |
T234A |
probably benign |
Het |
Lysmd2 |
C |
A |
9: 75,542,885 (GRCm39) |
P164Q |
probably benign |
Het |
Maea |
T |
A |
5: 33,526,027 (GRCm39) |
D234E |
probably benign |
Het |
Map4k1 |
T |
A |
7: 28,699,445 (GRCm39) |
V572E |
probably damaging |
Het |
Med6 |
C |
T |
12: 81,620,733 (GRCm39) |
G166R |
probably null |
Het |
Mtmr10 |
T |
C |
7: 63,987,458 (GRCm39) |
I666T |
probably damaging |
Het |
Myh14 |
T |
A |
7: 44,262,887 (GRCm39) |
K1777M |
probably benign |
Het |
Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
Obscn |
A |
G |
11: 58,923,517 (GRCm39) |
S6461P |
probably damaging |
Het |
Or1j4 |
T |
C |
2: 36,740,061 (GRCm39) |
M1T |
probably null |
Het |
Osbpl7 |
T |
A |
11: 96,956,658 (GRCm39) |
V567E |
probably damaging |
Het |
Rad51ap2 |
A |
T |
12: 11,506,921 (GRCm39) |
D281V |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpl24 |
C |
A |
16: 55,787,516 (GRCm39) |
H59N |
possibly damaging |
Het |
Rtl1 |
G |
A |
12: 109,559,053 (GRCm39) |
L929F |
possibly damaging |
Het |
Runx3 |
C |
T |
4: 134,890,575 (GRCm39) |
T159I |
probably damaging |
Het |
Serpine2 |
T |
C |
1: 79,794,637 (GRCm39) |
I99V |
probably benign |
Het |
Slc12a6 |
C |
A |
2: 112,115,067 (GRCm39) |
P12Q |
probably benign |
Het |
Slc25a18 |
T |
C |
6: 120,769,035 (GRCm39) |
L184P |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,812,120 (GRCm39) |
D57G |
probably benign |
Het |
Spdye4c |
T |
A |
2: 128,438,761 (GRCm39) |
*340K |
probably null |
Het |
Srsf5 |
G |
A |
12: 80,996,311 (GRCm39) |
E162K |
possibly damaging |
Het |
Ssc5d |
T |
C |
7: 4,939,817 (GRCm39) |
V751A |
probably benign |
Het |
Tdrd7 |
T |
C |
4: 45,989,082 (GRCm39) |
V71A |
probably benign |
Het |
Tex14 |
T |
C |
11: 87,405,121 (GRCm39) |
C678R |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,868,704 (GRCm39) |
K214* |
probably null |
Het |
Vps53 |
A |
G |
11: 75,953,833 (GRCm39) |
I659T |
probably benign |
Het |
Zfp597 |
A |
T |
16: 3,684,023 (GRCm39) |
C244* |
probably null |
Het |
Zfp933 |
T |
A |
4: 147,912,864 (GRCm39) |
|
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 |
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 |
|
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'- AGTTCATGCTGTCCTAGGGGAG -3'
(R):5'- GTGCCAGTGATAGCTACAGC -3'
Sequencing Primer
(F):5'- TGTCCTAGGGGAGAGCAC -3'
(R):5'- TACAGCTGGCACCGCAG -3'
|
Posted On |
2016-12-15 |