Incidental Mutation 'R6077:Tcf7l2'
| ID |
482822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcf7l2
|
| Ensembl Gene |
ENSMUSG00000024985 |
| Gene Name |
transcription factor 7 like 2, T cell specific, HMG box |
| Synonyms |
Tcf4, TCF4E, Tcf-4, mTcf-4B, mTcf-4E, TCF4B |
| MMRRC Submission |
044238-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
55730252-55922086 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 55905868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 278
(K278*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041717]
[ENSMUST00000061496]
[ENSMUST00000111646]
[ENSMUST00000111649]
[ENSMUST00000111651]
[ENSMUST00000111652]
[ENSMUST00000111653]
[ENSMUST00000153888]
[ENSMUST00000111654]
[ENSMUST00000111656]
[ENSMUST00000111657]
[ENSMUST00000111658]
[ENSMUST00000111659]
[ENSMUST00000111662]
[ENSMUST00000142291]
[ENSMUST00000148666]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041717
AA Change: K297*
|
| SMART Domains |
Protein: ENSMUSP00000042950
Gene: ENSMUSG00000024985
AA Change: K297*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
236 |
1.5e-95 |
PFAM |
|
HMG
|
326 |
396 |
1.16e-22 |
SMART |
|
low complexity region
|
402 |
410 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000061496
AA Change: K297*
|
| SMART Domains |
Protein: ENSMUSP00000050081
Gene: ENSMUSG00000024985
AA Change: K297*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
236 |
1.7e-95 |
PFAM |
|
HMG
|
326 |
396 |
1.16e-22 |
SMART |
|
low complexity region
|
402 |
410 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111646
AA Change: K137*
|
| SMART Domains |
Protein: ENSMUSP00000107273
Gene: ENSMUSG00000024985
AA Change: K137*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
76 |
2.4e-37 |
PFAM |
|
HMG
|
166 |
236 |
1.16e-22 |
SMART |
|
low complexity region
|
242 |
250 |
N/A |
INTRINSIC |
|
c-clamp
|
278 |
298 |
2.25e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111649
|
| SMART Domains |
Protein: ENSMUSP00000107276
Gene: ENSMUSG00000024985
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
236 |
2.5e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111651
|
| SMART Domains |
Protein: ENSMUSP00000107278
Gene: ENSMUSG00000024985
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
284 |
2.3e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111652
|
| SMART Domains |
Protein: ENSMUSP00000107279
Gene: ENSMUSG00000024985
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
259 |
9.1e-93 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111653
AA Change: K302*
|
| SMART Domains |
Protein: ENSMUSP00000107280
Gene: ENSMUSG00000024985
AA Change: K302*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
236 |
2.1e-95 |
PFAM |
|
HMG
|
331 |
401 |
1.16e-22 |
SMART |
|
low complexity region
|
407 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153888
AA Change: K278*
|
| SMART Domains |
Protein: ENSMUSP00000118661
Gene: ENSMUSG00000024985
AA Change: K278*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
217 |
1.2e-64 |
PFAM |
|
HMG
|
307 |
377 |
1.16e-22 |
SMART |
|
low complexity region
|
383 |
391 |
N/A |
INTRINSIC |
|
c-clamp
|
402 |
432 |
5.29e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111654
AA Change: K316*
|
| SMART Domains |
Protein: ENSMUSP00000107281
Gene: ENSMUSG00000024985
AA Change: K316*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
259 |
4.2e-93 |
PFAM |
|
HMG
|
345 |
415 |
1.16e-22 |
SMART |
|
low complexity region
|
421 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111656
AA Change: K297*
|
| SMART Domains |
Protein: ENSMUSP00000107283
Gene: ENSMUSG00000024985
AA Change: K297*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
236 |
1.5e-95 |
PFAM |
|
HMG
|
326 |
396 |
1.16e-22 |
SMART |
|
low complexity region
|
402 |
410 |
N/A |
INTRINSIC |
|
c-clamp
|
438 |
458 |
2.25e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111657
AA Change: K297*
|
| SMART Domains |
Protein: ENSMUSP00000107284
Gene: ENSMUSG00000024985
AA Change: K297*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
236 |
2.1e-95 |
PFAM |
|
HMG
|
326 |
396 |
1.16e-22 |
SMART |
|
low complexity region
|
402 |
410 |
N/A |
INTRINSIC |
|
c-clamp
|
438 |
468 |
2.08e-14 |
SMART |
|
low complexity region
|
471 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
578 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111658
AA Change: K321*
|
| SMART Domains |
Protein: ENSMUSP00000107286
Gene: ENSMUSG00000024985
AA Change: K321*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
259 |
4.5e-93 |
PFAM |
|
HMG
|
350 |
420 |
1.16e-22 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111659
AA Change: K302*
|
| SMART Domains |
Protein: ENSMUSP00000107287
Gene: ENSMUSG00000024985
AA Change: K302*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
236 |
1.7e-96 |
PFAM |
|
HMG
|
331 |
401 |
1.16e-22 |
SMART |
|
low complexity region
|
407 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111662
AA Change: K297*
|
| SMART Domains |
Protein: ENSMUSP00000107291
Gene: ENSMUSG00000024985
AA Change: K297*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
236 |
1.7e-103 |
PFAM |
|
HMG
|
326 |
396 |
1.16e-22 |
SMART |
|
low complexity region
|
402 |
410 |
N/A |
INTRINSIC |
|
c-clamp
|
421 |
442 |
1.23e-2 |
SMART |
|
c-clamp
|
446 |
476 |
1.35e-13 |
SMART |
|
low complexity region
|
479 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127233
AA Change: K289*
|
| SMART Domains |
Protein: ENSMUSP00000123428
Gene: ENSMUSG00000024985
AA Change: K289*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
229 |
9.3e-98 |
PFAM |
|
HMG
|
319 |
389 |
1.16e-22 |
SMART |
|
low complexity region
|
395 |
403 |
N/A |
INTRINSIC |
|
c-clamp
|
414 |
434 |
2.25e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142291
AA Change: K137*
|
| SMART Domains |
Protein: ENSMUSP00000118042
Gene: ENSMUSG00000024985
AA Change: K137*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
76 |
5e-40 |
PFAM |
|
SCOP:d1j46a_
|
164 |
178 |
5e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148666
AA Change: K167*
|
| SMART Domains |
Protein: ENSMUSP00000119759
Gene: ENSMUSG00000024985
AA Change: K167*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
10 |
106 |
5.7e-39 |
PFAM |
|
HMG
|
196 |
265 |
1.02e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145249
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
PHENOTYPE: Animals homozygous for a targeted mutation exhibit intestinal epithelia abnormalities and die shortly after birth. Mice heterozygous for some mutations display abnormalities in glucose homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
T |
11: 100,410,583 (GRCm39) |
V132I |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,133,081 (GRCm39) |
L1335* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,454,595 (GRCm39) |
S301P |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,525 (GRCm39) |
Y21C |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,071 (GRCm39) |
S112R |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,382,058 (GRCm39) |
|
probably null |
Het |
| Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
| C2cd4d |
A |
T |
3: 94,271,615 (GRCm39) |
R294W |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,220,875 (GRCm39) |
I352V |
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,803,969 (GRCm39) |
S547R |
probably benign |
Het |
| Cdyl2 |
G |
T |
8: 117,316,129 (GRCm39) |
N286K |
probably damaging |
Het |
| Fam186a |
C |
A |
15: 99,840,584 (GRCm39) |
V1887L |
possibly damaging |
Het |
| Fat4 |
C |
T |
3: 39,056,951 (GRCm39) |
R4216C |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,740,663 (GRCm39) |
W361R |
probably damaging |
Het |
| Helz2 |
G |
A |
2: 180,874,831 (GRCm39) |
P1888S |
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,651,833 (GRCm39) |
F840L |
possibly damaging |
Het |
| Kansl2 |
T |
C |
15: 98,429,312 (GRCm39) |
D146G |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,746 (GRCm39) |
V297A |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,982,618 (GRCm39) |
T720A |
possibly damaging |
Het |
| Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
| Large2 |
C |
T |
2: 92,196,915 (GRCm39) |
R423K |
probably benign |
Het |
| Lgals3bp |
A |
G |
11: 118,290,568 (GRCm39) |
V13A |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,837 (GRCm39) |
I381V |
probably benign |
Het |
| Mastl |
A |
T |
2: 23,045,806 (GRCm39) |
I23N |
probably damaging |
Het |
| Mettl23 |
T |
C |
11: 116,739,728 (GRCm39) |
V1A |
possibly damaging |
Het |
| Mindy2 |
A |
G |
9: 70,538,363 (GRCm39) |
V324A |
probably damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,501,845 (GRCm39) |
L633Q |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,102,273 (GRCm39) |
E855K |
probably damaging |
Het |
| Nin |
C |
T |
12: 70,066,006 (GRCm39) |
A2026T |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Or2w1 |
A |
T |
13: 21,317,463 (GRCm39) |
I173F |
probably benign |
Het |
| Otulin |
T |
C |
15: 27,611,696 (GRCm39) |
T166A |
probably benign |
Het |
| P2ry14 |
T |
A |
3: 59,022,798 (GRCm39) |
R230W |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,162,073 (GRCm39) |
E83G |
probably damaging |
Het |
| Raet1e |
C |
A |
10: 22,057,887 (GRCm39) |
T218N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Safb |
G |
A |
17: 56,909,956 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,527,940 (GRCm39) |
N850I |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,381 (GRCm39) |
D297G |
possibly damaging |
Het |
| Tesmin |
T |
C |
19: 3,439,260 (GRCm39) |
V104A |
possibly damaging |
Het |
| Tiam1 |
A |
G |
16: 89,594,918 (GRCm39) |
|
probably null |
Het |
| Tmc4 |
T |
C |
7: 3,670,526 (GRCm39) |
T522A |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,408,141 (GRCm39) |
I274F |
possibly damaging |
Het |
| Topbp1 |
A |
G |
9: 103,210,189 (GRCm39) |
K916E |
probably damaging |
Het |
| Trdv1 |
A |
G |
14: 54,119,513 (GRCm39) |
D58G |
probably benign |
Het |
| Ube2g2 |
G |
T |
10: 77,458,139 (GRCm39) |
|
probably benign |
Het |
| Unc5d |
G |
T |
8: 29,165,335 (GRCm39) |
Q747K |
possibly damaging |
Het |
| Xpo6 |
A |
G |
7: 125,709,124 (GRCm39) |
V819A |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,412,559 (GRCm39) |
|
probably benign |
Het |
| Zfp317 |
T |
A |
9: 19,558,184 (GRCm39) |
W133R |
probably benign |
Het |
|
| Other mutations in Tcf7l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Tcf7l2
|
APN |
19 |
55,905,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01013:Tcf7l2
|
APN |
19 |
55,908,059 (GRCm39) |
splice site |
probably benign |
|
|
IGL02871:Tcf7l2
|
APN |
19 |
55,907,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
banned
|
UTSW |
19 |
55,919,864 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Notable
|
UTSW |
19 |
55,915,172 (GRCm39) |
missense |
unknown |
|
|
PIT4468001:Tcf7l2
|
UTSW |
19 |
55,730,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0927:Tcf7l2
|
UTSW |
19 |
55,907,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1078:Tcf7l2
|
UTSW |
19 |
55,731,627 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4580:Tcf7l2
|
UTSW |
19 |
55,907,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Tcf7l2
|
UTSW |
19 |
55,919,886 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4814:Tcf7l2
|
UTSW |
19 |
55,912,504 (GRCm39) |
nonsense |
probably null |
|
|
R4957:Tcf7l2
|
UTSW |
19 |
55,919,864 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5222:Tcf7l2
|
UTSW |
19 |
55,887,044 (GRCm39) |
missense |
probably benign |
|
|
R5484:Tcf7l2
|
UTSW |
19 |
55,907,940 (GRCm39) |
splice site |
probably null |
|
|
R5808:Tcf7l2
|
UTSW |
19 |
55,896,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Tcf7l2
|
UTSW |
19 |
55,886,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6116:Tcf7l2
|
UTSW |
19 |
55,907,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Tcf7l2
|
UTSW |
19 |
55,730,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Tcf7l2
|
UTSW |
19 |
55,743,480 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7009:Tcf7l2
|
UTSW |
19 |
55,883,165 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7382:Tcf7l2
|
UTSW |
19 |
55,915,172 (GRCm39) |
missense |
unknown |
|
|
R7669:Tcf7l2
|
UTSW |
19 |
55,912,975 (GRCm39) |
nonsense |
probably null |
|
|
R7761:Tcf7l2
|
UTSW |
19 |
55,914,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Tcf7l2
|
UTSW |
19 |
55,731,521 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7952:Tcf7l2
|
UTSW |
19 |
55,886,989 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
|
R8753:Tcf7l2
|
UTSW |
19 |
55,920,195 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9333:Tcf7l2
|
UTSW |
19 |
55,919,928 (GRCm39) |
nonsense |
probably null |
|
|
R9342:Tcf7l2
|
UTSW |
19 |
55,731,517 (GRCm39) |
missense |
probably benign |
|
|
R9395:Tcf7l2
|
UTSW |
19 |
55,920,200 (GRCm39) |
nonsense |
probably null |
|
|
R9610:Tcf7l2
|
UTSW |
19 |
55,899,038 (GRCm39) |
missense |
probably null |
1.00 |
|
R9611:Tcf7l2
|
UTSW |
19 |
55,899,038 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGTTTCATATGCCTTGGG -3'
(R):5'- AGAGCATTTCCTCCGGATGG -3'
Sequencing Primer
(F):5'- CTTTCATGTGAATGTTACTGCGC -3'
(R):5'- ATTTCCTCCGGATGGACCAGATG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation