Incidental Mutation 'R6857:Tcf3'
ID |
543685 |
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 |
044959-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R6857 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
80245348-80269481 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 80252733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000020377 Gene: ENSMUSG00000020167
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
|
SMART Domains |
Protein: ENSMUSP00000020379 Gene: ENSMUSG00000020167
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 null
Transcript: ENSMUST00000105339
|
SMART Domains |
Protein: ENSMUSP00000100976 Gene: ENSMUSG00000020167
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
|
SMART Domains |
Protein: ENSMUSP00000100977 Gene: ENSMUSG00000020167
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 null
Transcript: ENSMUST00000105341
|
SMART Domains |
Protein: ENSMUSP00000100978 Gene: ENSMUSG00000020167
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
|
SMART Domains |
Protein: ENSMUSP00000100979 Gene: ENSMUSG00000020167
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
|
SMART Domains |
Protein: ENSMUSP00000100980 Gene: ENSMUSG00000020167
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
|
SMART Domains |
Protein: ENSMUSP00000100981 Gene: ENSMUSG00000020167
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
|
SMART Domains |
Protein: ENSMUSP00000100982 Gene: ENSMUSG00000020167
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
|
SMART Domains |
Protein: ENSMUSP00000100983 Gene: ENSMUSG00000020167
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: ENSMUST00000156244
|
SMART Domains |
Protein: ENSMUSP00000120303 Gene: ENSMUSG00000020167
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000156990
|
SMART Domains |
Protein: ENSMUSP00000121172 Gene: ENSMUSG00000020167
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (58/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
G |
11: 110,110,514 (GRCm39) |
L545P |
possibly damaging |
Het |
Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
Ahnak |
C |
T |
19: 9,014,532 (GRCm39) |
Q119* |
probably null |
Het |
Anxa10 |
C |
A |
8: 62,514,051 (GRCm39) |
A239S |
probably benign |
Het |
B020011L13Rik |
A |
T |
1: 117,729,018 (GRCm39) |
H175L |
probably benign |
Het |
Best2 |
A |
G |
8: 85,734,452 (GRCm39) |
V422A |
probably benign |
Het |
Cc2d2b |
T |
C |
19: 40,759,309 (GRCm39) |
F298S |
possibly damaging |
Het |
Cd38 |
T |
A |
5: 44,063,540 (GRCm39) |
M211K |
probably damaging |
Het |
Cd3d |
T |
G |
9: 44,896,902 (GRCm39) |
M92R |
probably damaging |
Het |
Cdk5rap2 |
C |
A |
4: 70,163,633 (GRCm39) |
E1474* |
probably null |
Het |
Clvs1 |
A |
G |
4: 9,449,433 (GRCm39) |
K341E |
probably benign |
Het |
Copg2 |
G |
T |
6: 30,840,533 (GRCm39) |
D112E |
possibly damaging |
Het |
Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 49,997,902 (GRCm39) |
N697Y |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,624,981 (GRCm39) |
S3803P |
possibly damaging |
Het |
Ecpas |
T |
A |
4: 58,814,065 (GRCm39) |
D1347V |
probably damaging |
Het |
Epx |
T |
A |
11: 87,760,781 (GRCm39) |
K384* |
probably null |
Het |
Fam135a |
G |
C |
1: 24,053,870 (GRCm39) |
D1222E |
probably damaging |
Het |
Fndc1 |
T |
A |
17: 7,991,002 (GRCm39) |
H898L |
unknown |
Het |
Gapvd1 |
A |
G |
2: 34,618,389 (GRCm39) |
I190T |
probably damaging |
Het |
Hax1 |
T |
G |
3: 89,904,759 (GRCm39) |
S122R |
probably damaging |
Het |
Hdac9 |
T |
G |
12: 34,443,362 (GRCm39) |
M272L |
probably benign |
Het |
Itgb7 |
T |
C |
15: 102,131,900 (GRCm39) |
S228G |
probably damaging |
Het |
Itpr2 |
C |
A |
6: 146,298,517 (GRCm39) |
E315* |
probably null |
Het |
Kctd8 |
T |
C |
5: 69,454,045 (GRCm39) |
N331D |
probably benign |
Het |
Ky |
G |
A |
9: 102,419,631 (GRCm39) |
G546E |
probably damaging |
Het |
Lao1 |
T |
C |
4: 118,821,023 (GRCm39) |
|
probably null |
Het |
Mtmr12 |
T |
A |
15: 12,263,918 (GRCm39) |
W427R |
probably damaging |
Het |
Mxra8 |
A |
G |
4: 155,927,593 (GRCm39) |
K434E |
possibly damaging |
Het |
Myh4 |
T |
C |
11: 67,140,711 (GRCm39) |
C676R |
possibly damaging |
Het |
Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
Or5w17 |
A |
T |
2: 87,583,831 (GRCm39) |
C169S |
probably damaging |
Het |
Or8b50 |
T |
C |
9: 38,518,307 (GRCm39) |
L182P |
probably benign |
Het |
Or8k35 |
A |
T |
2: 86,424,608 (GRCm39) |
L188H |
probably damaging |
Het |
Paqr5 |
G |
T |
9: 61,883,370 (GRCm39) |
H41N |
probably damaging |
Het |
Plekha8 |
T |
C |
6: 54,606,920 (GRCm39) |
L405P |
probably damaging |
Het |
Plpbp |
A |
G |
8: 27,535,454 (GRCm39) |
N79S |
possibly damaging |
Het |
Plxnd1 |
G |
T |
6: 115,970,724 (GRCm39) |
A348E |
probably benign |
Het |
Prdm9 |
T |
C |
17: 15,764,518 (GRCm39) |
Q754R |
probably benign |
Het |
Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
Rgs12 |
A |
T |
5: 35,187,366 (GRCm39) |
K213* |
probably null |
Het |
Serpina3m |
T |
C |
12: 104,355,585 (GRCm39) |
L84P |
probably damaging |
Het |
Tab2 |
T |
C |
10: 7,796,177 (GRCm39) |
T102A |
possibly damaging |
Het |
Tagln3 |
G |
T |
16: 45,544,599 (GRCm39) |
A24E |
probably benign |
Het |
Tanc2 |
A |
G |
11: 105,801,114 (GRCm39) |
E1110G |
possibly damaging |
Het |
Tmem14a |
T |
C |
1: 21,299,769 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,748,275 (GRCm39) |
E4258V |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,213,362 (GRCm39) |
D5104N |
possibly damaging |
Het |
Ugt2b37 |
C |
G |
5: 87,388,705 (GRCm39) |
A503P |
probably damaging |
Het |
Unc45b |
A |
G |
11: 82,804,038 (GRCm39) |
I72V |
probably benign |
Het |
Vmn1r88 |
A |
T |
7: 12,912,258 (GRCm39) |
M205L |
possibly damaging |
Het |
Vmn2r109 |
C |
T |
17: 20,760,932 (GRCm39) |
M808I |
probably benign |
Het |
Wdr72 |
G |
T |
9: 74,062,323 (GRCm39) |
V490L |
probably damaging |
Het |
Zfp1004 |
G |
T |
2: 150,033,982 (GRCm39) |
C132F |
probably damaging |
Het |
Zfp998 |
A |
T |
13: 66,580,161 (GRCm39) |
H107Q |
probably benign |
Het |
Zgrf1 |
T |
A |
3: 127,375,096 (GRCm39) |
V785E |
probably damaging |
Het |
Zswim7 |
A |
T |
11: 62,171,955 (GRCm39) |
|
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 |
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 |
|
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 |
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'- AATGAGGCTACCAGAAGTCCCC -3'
(R):5'- TGAAAGCCTCCTAGGTGAGC -3'
Sequencing Primer
(F):5'- CACTGCCACTGCCCAGG -3'
(R):5'- AGCCTACACCTGGGGTTTG -3'
|
Posted On |
2019-05-10 |