Incidental Mutation 'R8958:Tcf3'
| ID |
682176 |
| 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 |
068794-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R8958 (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 80246091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 611
(K611E)
|
| 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: K612E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020377
Gene: ENSMUSG00000020167
AA Change: K612E
| 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: K609E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020379
Gene: ENSMUSG00000020167
AA Change: K609E
| 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: K608E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100976
Gene: ENSMUSG00000020167
AA Change: K608E
| 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 damaging
Transcript: ENSMUST00000105340
AA Change: K608E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100977
Gene: ENSMUSG00000020167
AA Change: K608E
| 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 damaging
Transcript: ENSMUST00000105341
AA Change: K605E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100978
Gene: ENSMUSG00000020167
AA Change: K605E
| 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: K613E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100979
Gene: ENSMUSG00000020167
AA Change: K613E
| 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 damaging
Transcript: ENSMUST00000105343
AA Change: K609E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100980
Gene: ENSMUSG00000020167
AA Change: K609E
| 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: K610E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100981
Gene: ENSMUSG00000020167
AA Change: K610E
| 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 damaging
Transcript: ENSMUST00000105345
AA Change: K608E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100982
Gene: ENSMUSG00000020167
AA Change: K608E
| 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: K611E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100983
Gene: ENSMUSG00000020167
AA Change: K611E
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121172
Gene: ENSMUSG00000020167
AA Change: K597E
| 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: 99.4%
- 20x: 97.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
T |
12: 21,399,934 (GRCm39) |
N157K |
possibly damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,848 (GRCm39) |
V412A |
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,865,190 (GRCm39) |
V11I |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,019 (GRCm39) |
D643G |
probably damaging |
Het |
| Arvcf |
A |
G |
16: 18,221,376 (GRCm39) |
Q597R |
probably damaging |
Het |
| Brdt |
T |
C |
5: 107,525,877 (GRCm39) |
V910A |
probably benign |
Het |
| Cachd1 |
A |
G |
4: 100,851,283 (GRCm39) |
D1167G |
probably benign |
Het |
| Ccdc187 |
A |
C |
2: 26,165,577 (GRCm39) |
S860A |
probably benign |
Het |
| Ccdc28a |
T |
C |
10: 18,089,926 (GRCm39) |
I113M |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,704,127 (GRCm39) |
N699S |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,385,350 (GRCm39) |
I2310K |
possibly damaging |
Het |
| Ch25h |
A |
T |
19: 34,452,414 (GRCm39) |
I38N |
probably benign |
Het |
| Chrdl2 |
C |
A |
7: 99,670,129 (GRCm39) |
P84Q |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,586,403 (GRCm39) |
Y1673N |
possibly damaging |
Het |
| Cr1l |
C |
G |
1: 194,812,243 (GRCm39) |
G27R |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 4,031,172 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,586,805 (GRCm39) |
E929K |
probably benign |
Het |
| E2f7 |
C |
A |
10: 110,601,615 (GRCm39) |
P324Q |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,411,194 (GRCm39) |
D215G |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 102,072,614 (GRCm39) |
I55T |
probably damaging |
Het |
| Fbxw14 |
A |
T |
9: 109,107,810 (GRCm39) |
L188Q |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,944 (GRCm39) |
S226P |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,275,210 (GRCm39) |
F337L |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,899,116 (GRCm39) |
C716* |
probably null |
Het |
| Gp1ba |
C |
G |
11: 70,531,730 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
C |
T |
6: 111,472,783 (GRCm39) |
S36L |
probably damaging |
Het |
| H2-M5 |
T |
A |
17: 37,299,520 (GRCm39) |
I167F |
probably damaging |
Het |
| H3c6 |
T |
C |
13: 23,746,421 (GRCm39) |
H40R |
possibly damaging |
Het |
| Hycc1 |
A |
G |
5: 24,169,934 (GRCm39) |
C472R |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ino80 |
C |
T |
2: 119,213,862 (GRCm39) |
R1236H |
probably damaging |
Het |
| Ism1 |
T |
A |
2: 139,573,995 (GRCm39) |
I115N |
possibly damaging |
Het |
| Kdm4a |
A |
G |
4: 117,999,573 (GRCm39) |
S950P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,835,592 (GRCm39) |
T1254A |
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,698,361 (GRCm39) |
K339* |
probably null |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Mkrn2os |
G |
C |
6: 115,562,317 (GRCm39) |
S215R |
probably benign |
Het |
| Myzap |
G |
T |
9: 71,457,485 (GRCm39) |
D303E |
possibly damaging |
Het |
| Naa11 |
T |
C |
5: 97,540,084 (GRCm39) |
N25D |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,354,117 (GRCm39) |
K1149* |
probably null |
Het |
| Obscn |
C |
T |
11: 58,964,158 (GRCm39) |
V3083M |
probably damaging |
Het |
| Or10d1 |
T |
C |
9: 39,484,091 (GRCm39) |
T155A |
probably benign |
Het |
| Or4k48 |
T |
C |
2: 111,476,070 (GRCm39) |
T91A |
possibly damaging |
Het |
| Parn |
T |
A |
16: 13,466,322 (GRCm39) |
E241D |
possibly damaging |
Het |
| Pax1 |
T |
A |
2: 147,210,517 (GRCm39) |
|
probably null |
Het |
| Pclo |
A |
T |
5: 14,725,369 (GRCm39) |
E1409V |
unknown |
Het |
| Pclo |
A |
G |
5: 14,763,056 (GRCm39) |
Y3843C |
unknown |
Het |
| Ppp2r3d |
A |
T |
9: 101,088,634 (GRCm39) |
M563K |
probably benign |
Het |
| Prdm1 |
T |
G |
10: 44,316,729 (GRCm39) |
K623Q |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,698,973 (GRCm39) |
V1152A |
probably benign |
Het |
| Ptx3 |
G |
A |
3: 66,128,391 (GRCm39) |
A151T |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,644,940 (GRCm39) |
S282G |
possibly damaging |
Het |
| Ros1 |
G |
T |
10: 51,972,190 (GRCm39) |
N1641K |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,181,768 (GRCm39) |
K4189R |
probably benign |
Het |
| Tmem215 |
A |
G |
4: 40,474,376 (GRCm39) |
Q151R |
probably benign |
Het |
| Trappc8 |
T |
C |
18: 21,003,667 (GRCm39) |
I254V |
probably benign |
Het |
| Trim46 |
T |
C |
3: 89,143,760 (GRCm39) |
D556G |
probably damaging |
Het |
| Wdr97 |
A |
T |
15: 76,245,694 (GRCm39) |
E1310D |
|
Het |
| Zfp513 |
C |
A |
5: 31,356,825 (GRCm39) |
R487L |
probably damaging |
Het |
| Zmpste24 |
C |
A |
4: 120,944,508 (GRCm39) |
E97* |
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 |
|
|
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 |
|
|
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'- CATCCAGAACCGTCCTGATG -3'
(R):5'- AGACCAAGCTGCTCATCCTG -3'
Sequencing Primer
(F):5'- GAACCGTCCTGATGCACCC -3'
(R):5'- AGGCGGTGCAGGTCATC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation