Incidental Mutation 'R5347:Tcf3'
ID |
422691 |
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 |
042926-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.951)
|
Stock # |
R5347 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80245348-80269481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80246045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 626
(V626A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020372]
[ENSMUST00000020377]
[ENSMUST00000020379]
[ENSMUST00000105339]
[ENSMUST00000105340]
[ENSMUST00000105341]
[ENSMUST00000105342]
[ENSMUST00000105343]
[ENSMUST00000105344]
[ENSMUST00000105345]
[ENSMUST00000105346]
|
AlphaFold |
P15806 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020372
|
SMART Domains |
Protein: ENSMUSP00000020372 Gene: ENSMUSG00000020163
Domain | Start | End | E-Value | Type |
Pfam:UCR_6-4kD
|
1 |
55 |
1.2e-36 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020377
AA Change: V627A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020377 Gene: ENSMUSG00000020167 AA Change: V627A
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: V624A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020379 Gene: ENSMUSG00000020167 AA Change: V624A
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: V623A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000100976 Gene: ENSMUSG00000020167 AA Change: V623A
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: V623A
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000100977 Gene: ENSMUSG00000020167 AA Change: V623A
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: V620A
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000100978 Gene: ENSMUSG00000020167 AA Change: V620A
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: V628A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100979 Gene: ENSMUSG00000020167 AA Change: V628A
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: V624A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000100980 Gene: ENSMUSG00000020167 AA Change: V624A
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: ENSMUST00000105344
AA Change: V625A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100981 Gene: ENSMUSG00000020167 AA Change: V625A
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: V623A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000100982 Gene: ENSMUSG00000020167 AA Change: V623A
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: V626A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100983 Gene: ENSMUSG00000020167 AA Change: V626A
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: V612A
|
SMART Domains |
Protein: ENSMUSP00000121172 Gene: ENSMUSG00000020167 AA Change: V612A
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: ENSMUST00000141683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129027
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138428
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
A |
G |
2: 48,782,166 (GRCm39) |
Y233C |
probably damaging |
Het |
Agl |
A |
G |
3: 116,584,814 (GRCm39) |
S169P |
probably damaging |
Het |
Arid1b |
C |
T |
17: 5,341,332 (GRCm39) |
Q879* |
probably null |
Het |
Bbs2 |
A |
G |
8: 94,819,178 (GRCm39) |
S64P |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,391,313 (GRCm39) |
T447A |
probably benign |
Het |
Ccdc168 |
T |
A |
1: 44,096,955 (GRCm39) |
Y1381F |
probably benign |
Het |
Ccdc169 |
A |
T |
3: 55,049,740 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
A |
G |
2: 120,560,546 (GRCm39) |
S275P |
possibly damaging |
Het |
Cdh15 |
A |
G |
8: 123,588,802 (GRCm39) |
N292S |
probably null |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Cnnm1 |
A |
G |
19: 43,430,301 (GRCm39) |
H473R |
probably benign |
Het |
Cplx4 |
G |
A |
18: 66,103,157 (GRCm39) |
|
probably benign |
Het |
Crb1 |
C |
T |
1: 139,265,109 (GRCm39) |
G103E |
probably damaging |
Het |
Dnaja3 |
T |
A |
16: 4,512,346 (GRCm39) |
V250E |
possibly damaging |
Het |
Dync2h1 |
T |
G |
9: 7,129,727 (GRCm39) |
Q1757P |
probably damaging |
Het |
Edem3 |
A |
G |
1: 151,683,202 (GRCm39) |
Q626R |
probably damaging |
Het |
Eif2b1 |
T |
C |
5: 124,716,862 (GRCm39) |
|
probably benign |
Het |
Esf1 |
T |
A |
2: 139,996,801 (GRCm39) |
K521* |
probably null |
Het |
Fbxl3 |
A |
C |
14: 103,320,730 (GRCm39) |
V239G |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,367,051 (GRCm39) |
D198G |
probably benign |
Het |
Fto |
A |
G |
8: 92,118,107 (GRCm39) |
|
probably benign |
Het |
Gm5773 |
T |
C |
3: 93,681,090 (GRCm39) |
L254P |
probably damaging |
Het |
Gm5916 |
A |
T |
9: 36,032,012 (GRCm39) |
W91R |
probably benign |
Het |
Gpam |
A |
T |
19: 55,077,269 (GRCm39) |
L174H |
probably damaging |
Het |
Grk1 |
G |
A |
8: 13,464,478 (GRCm39) |
R450Q |
probably damaging |
Het |
Hc |
G |
A |
2: 34,927,636 (GRCm39) |
A326V |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,442,511 (GRCm39) |
I1317T |
probably benign |
Het |
Hlcs |
A |
G |
16: 94,068,383 (GRCm39) |
V426A |
possibly damaging |
Het |
Ighv1-23 |
T |
C |
12: 114,728,376 (GRCm39) |
|
probably benign |
Het |
Itgax |
G |
A |
7: 127,740,474 (GRCm39) |
V754I |
probably benign |
Het |
Krt24 |
T |
A |
11: 99,173,556 (GRCm39) |
D255V |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,403,935 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
G |
T |
18: 77,454,237 (GRCm39) |
R478L |
probably damaging |
Het |
Lrrc56 |
A |
G |
7: 140,789,537 (GRCm39) |
Q518R |
probably benign |
Het |
Mbl1 |
A |
T |
14: 40,880,786 (GRCm39) |
I225F |
probably damaging |
Het |
Mmp21 |
T |
C |
7: 133,277,651 (GRCm39) |
S392G |
probably benign |
Het |
Mug2 |
T |
G |
6: 122,058,551 (GRCm39) |
F1318V |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,202,487 (GRCm39) |
N1447S |
probably null |
Het |
Nbea |
A |
C |
3: 55,948,297 (GRCm39) |
V543G |
probably damaging |
Het |
Necap1 |
A |
G |
6: 122,857,706 (GRCm39) |
I96V |
probably benign |
Het |
Nr3c2 |
T |
A |
8: 77,937,377 (GRCm39) |
M872K |
possibly damaging |
Het |
Nrf1 |
C |
T |
6: 30,118,967 (GRCm39) |
T362M |
probably benign |
Het |
Or14j2 |
T |
C |
17: 37,885,618 (GRCm39) |
E232G |
probably damaging |
Het |
Pcare |
A |
G |
17: 72,056,930 (GRCm39) |
S916P |
probably benign |
Het |
Plekhm3 |
T |
C |
1: 64,859,149 (GRCm39) |
E685G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sbk3 |
A |
T |
7: 4,970,422 (GRCm39) |
S316T |
probably benign |
Het |
Serpinb9e |
T |
C |
13: 33,441,767 (GRCm39) |
L233P |
probably damaging |
Het |
Set |
T |
A |
2: 29,959,422 (GRCm39) |
S132T |
possibly damaging |
Het |
Slc17a4 |
C |
T |
13: 24,092,800 (GRCm39) |
E11K |
possibly damaging |
Het |
Slc22a6 |
T |
A |
19: 8,595,917 (GRCm39) |
N86K |
possibly damaging |
Het |
Slco1a6 |
A |
G |
6: 142,032,325 (GRCm39) |
L600P |
probably damaging |
Het |
Sp8 |
A |
G |
12: 118,812,246 (GRCm39) |
K34E |
possibly damaging |
Het |
Spen |
T |
A |
4: 141,198,796 (GRCm39) |
E3254V |
probably benign |
Het |
Tcf12 |
G |
A |
9: 71,792,525 (GRCm39) |
P53S |
probably damaging |
Het |
Trpc4ap |
A |
G |
2: 155,514,908 (GRCm39) |
|
probably null |
Het |
Ttc3 |
T |
A |
16: 94,230,479 (GRCm39) |
V892D |
probably damaging |
Het |
Tub |
G |
T |
7: 108,625,978 (GRCm39) |
R243L |
possibly damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,473,433 (GRCm39) |
Y837C |
probably damaging |
Het |
Utp25 |
A |
T |
1: 192,810,687 (GRCm39) |
D105E |
probably benign |
Het |
Wdhd1 |
A |
T |
14: 47,506,181 (GRCm39) |
Y244* |
probably null |
Het |
Xdh |
T |
A |
17: 74,232,027 (GRCm39) |
T228S |
probably benign |
Het |
Zfp418 |
A |
C |
7: 7,185,534 (GRCm39) |
Q499P |
probably benign |
Het |
Zfpm1 |
G |
A |
8: 123,062,269 (GRCm39) |
E443K |
possibly damaging |
Het |
Zfy1 |
T |
C |
Y: 725,950 (GRCm39) |
H605R |
possibly 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 |
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 |
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'- CTCATGCTTCGATGGAGACC -3'
(R):5'- AGACCAAGCTGCTCATCCTG -3'
Sequencing Primer
(F):5'- GACCTGTCTCATCCAGAACCGTC -3'
(R):5'- AGGCGGTGCAGGTCATC -3'
|
Posted On |
2016-08-04 |