Incidental Mutation 'R8336:Tcf3'
| ID |
644626 |
| 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 |
067729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R8336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80245348-80269481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80257000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 75
(T75A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100979
(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: T75A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020377
Gene: ENSMUSG00000020167
AA Change: T75A
| 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: T75A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020379
Gene: ENSMUSG00000020167
AA Change: T75A
| 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: T75A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100976
Gene: ENSMUSG00000020167
AA Change: T75A
| 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: T75A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100977
Gene: ENSMUSG00000020167
AA Change: T75A
| 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: T75A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100978
Gene: ENSMUSG00000020167
AA Change: T75A
| 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: T75A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100979
Gene: ENSMUSG00000020167
AA Change: T75A
| 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: T75A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100980
Gene: ENSMUSG00000020167
AA Change: T75A
| 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: T75A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000100981
Gene: ENSMUSG00000020167
AA Change: T75A
| 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: T75A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000100982
Gene: ENSMUSG00000020167
AA Change: T75A
| 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: T75A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100983
Gene: ENSMUSG00000020167
AA Change: T75A
| 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 |
possibly damaging
Transcript: ENSMUST00000156244
AA Change: T39A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120303
Gene: ENSMUSG00000020167
AA Change: T39A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121172
Gene: ENSMUSG00000020167
AA Change: T66A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
T |
C |
14: 64,223,545 (GRCm39) |
K77R |
probably benign |
Het |
| Acta1 |
C |
T |
8: 124,619,310 (GRCm39) |
E261K |
possibly damaging |
Het |
| Adamts19 |
A |
T |
18: 59,140,444 (GRCm39) |
I848L |
possibly damaging |
Het |
| Adck1 |
C |
A |
12: 88,335,249 (GRCm39) |
T45K |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,566,495 (GRCm39) |
F291S |
|
Het |
| BC048671 |
T |
C |
6: 90,279,849 (GRCm39) |
V24A |
probably benign |
Het |
| Brsk2 |
C |
T |
7: 141,538,211 (GRCm39) |
A119V |
probably damaging |
Het |
| Cacnb1 |
A |
G |
11: 97,894,119 (GRCm39) |
Y468H |
probably benign |
Het |
| Cep89 |
A |
T |
7: 35,127,141 (GRCm39) |
K501* |
probably null |
Het |
| Ces2a |
T |
A |
8: 105,465,665 (GRCm39) |
F306I |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,952,528 (GRCm39) |
I457F |
possibly damaging |
Het |
| Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
C |
A |
14: 26,432,220 (GRCm39) |
T444K |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,406 (GRCm39) |
S270P |
probably damaging |
Het |
| Eppk1 |
T |
TCAC |
15: 75,992,152 (GRCm39) |
|
probably null |
Het |
| Esam |
T |
A |
9: 37,448,362 (GRCm39) |
I267K |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,542,489 (GRCm39) |
V106A |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,099 (GRCm39) |
T5611A |
possibly damaging |
Het |
| Gcc2 |
A |
G |
10: 58,108,189 (GRCm39) |
D933G |
probably damaging |
Het |
| Gm16506 |
T |
A |
14: 43,964,825 (GRCm39) |
H39L |
|
Het |
| Gm5145 |
A |
T |
17: 20,790,687 (GRCm39) |
N22Y |
probably damaging |
Het |
| Gm6465 |
A |
T |
5: 11,896,780 (GRCm39) |
R50W |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,309,405 (GRCm39) |
D548E |
probably benign |
Het |
| Hnrnpl |
C |
A |
7: 28,513,462 (GRCm39) |
S178R |
possibly damaging |
Het |
| Hsp90b1 |
A |
G |
10: 86,526,968 (GRCm39) |
*803Q |
probably null |
Het |
| Kdm5a |
A |
G |
6: 120,396,407 (GRCm39) |
N1088S |
probably benign |
Het |
| Klk1b11 |
C |
T |
7: 43,425,865 (GRCm39) |
|
probably benign |
Het |
| Kmt5b |
T |
C |
19: 3,865,531 (GRCm39) |
I865T |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,372,884 (GRCm39) |
R189L |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,603,430 (GRCm39) |
S1040P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,163,902 (GRCm39) |
S2019G |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,314,815 (GRCm39) |
V545A |
possibly damaging |
Het |
| Nkd2 |
G |
T |
13: 73,969,192 (GRCm39) |
P425T |
probably damaging |
Het |
| Or5h26 |
T |
C |
16: 58,987,918 (GRCm39) |
Y196C |
possibly damaging |
Het |
| Ostm1 |
A |
G |
10: 42,572,334 (GRCm39) |
Y239C |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,874,204 (GRCm39) |
D203G |
probably benign |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,942 (GRCm39) |
Y690* |
probably null |
Het |
| Pla2r1 |
C |
A |
2: 60,253,027 (GRCm39) |
V1355F |
possibly damaging |
Het |
| Pms1 |
C |
T |
1: 53,245,985 (GRCm39) |
S518N |
probably benign |
Het |
| Rab44 |
A |
T |
17: 29,367,249 (GRCm39) |
*726C |
probably null |
Het |
| Rin1 |
A |
T |
19: 5,105,013 (GRCm39) |
H691L |
possibly damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,473,058 (GRCm39) |
Y47* |
probably null |
Het |
| Sp9 |
T |
A |
2: 73,104,796 (GRCm39) |
V450D |
possibly damaging |
Het |
| Sstr3 |
T |
C |
15: 78,424,693 (GRCm39) |
N18S |
probably damaging |
Het |
| Sugct |
T |
A |
13: 17,032,504 (GRCm39) |
Y416F |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,746,808 (GRCm39) |
V999A |
probably damaging |
Het |
| Tfap2c |
T |
A |
2: 172,399,112 (GRCm39) |
L453* |
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,762 (GRCm39) |
M515K |
probably benign |
Het |
| Vstm2a |
G |
A |
11: 16,207,801 (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 |
|
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 |
|
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'- ATAGCATCCGACTCACTGCC -3'
(R):5'- GCAGTGACCAGAACAGTTCTTCC -3'
Sequencing Primer
(F):5'- GACTCACTGCCTGCCGATC -3'
(R):5'- GTGACCAGAACAGTTCTTCCTTTGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation