Incidental Mutation 'R1078:Tcf7l2'
| ID |
85763 |
| 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 |
039164-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1078 (G1)
|
| Quality Score |
154 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
55730252-55922086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55731627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 127
(T127A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041717]
[ENSMUST00000061496]
[ENSMUST00000111649]
[ENSMUST00000111651]
[ENSMUST00000111652]
[ENSMUST00000111653]
[ENSMUST00000111654]
[ENSMUST00000111662]
[ENSMUST00000111659]
[ENSMUST00000153888]
[ENSMUST00000111657]
[ENSMUST00000111656]
[ENSMUST00000111658]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041717
AA Change: T127A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000042950
Gene: ENSMUSG00000024985
AA Change: T127A
| 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 benign
Transcript: ENSMUST00000061496
AA Change: T127A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000050081
Gene: ENSMUSG00000024985
AA Change: T127A
| 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 benign
Transcript: ENSMUST00000111649
AA Change: T127A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000107276
Gene: ENSMUSG00000024985
AA Change: T127A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
236 |
2.5e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111651
AA Change: T127A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000107278
Gene: ENSMUSG00000024985
AA Change: T127A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
284 |
2.3e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111652
AA Change: T127A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107279
Gene: ENSMUSG00000024985
AA Change: T127A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
259 |
9.1e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111653
AA Change: T127A
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107280
Gene: ENSMUSG00000024985
AA Change: T127A
| 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 benign
Transcript: ENSMUST00000111654
AA Change: T127A
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107281
Gene: ENSMUSG00000024985
AA Change: T127A
| 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 benign
Transcript: ENSMUST00000111662
AA Change: T127A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000107291
Gene: ENSMUSG00000024985
AA Change: T127A
| 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 benign
Transcript: ENSMUST00000111659
AA Change: T127A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107287
Gene: ENSMUSG00000024985
AA Change: T127A
| 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 benign
Transcript: ENSMUST00000153888
AA Change: T85A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118661
Gene: ENSMUSG00000024985
AA Change: T85A
| 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 benign
Transcript: ENSMUST00000111657
AA Change: T127A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107284
Gene: ENSMUSG00000024985
AA Change: T127A
| 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 benign
Transcript: ENSMUST00000111656
AA Change: T127A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000107283
Gene: ENSMUSG00000024985
AA Change: T127A
| 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 benign
Transcript: ENSMUST00000111658
AA Change: T127A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107286
Gene: ENSMUSG00000024985
AA Change: T127A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTNNB1_binding
|
1 |
259 |
4.5e-93 |
PFAM |
|
HMG
|
350 |
420 |
1.16e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133008
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000127233
AA Change: T119A
|
| SMART Domains |
Protein: ENSMUSP00000123428
Gene: ENSMUSG00000024985
AA Change: T119A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.4%
|
| Validation Efficiency |
96% (53/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,145,698 (GRCm39) |
T138A |
unknown |
Het |
| Abi3bp |
T |
C |
16: 56,474,444 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
T |
7: 80,728,348 (GRCm39) |
M493L |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,060 (GRCm39) |
A20V |
unknown |
Het |
| Bms1 |
T |
C |
6: 118,382,182 (GRCm39) |
D452G |
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,184,389 (GRCm39) |
T3A |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,208,238 (GRCm39) |
V95A |
possibly damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,534,966 (GRCm39) |
K60E |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,144,542 (GRCm39) |
H318R |
probably damaging |
Het |
| Dlgap5 |
G |
A |
14: 47,637,023 (GRCm39) |
T485M |
probably damaging |
Het |
| Dsp |
C |
T |
13: 38,367,082 (GRCm39) |
|
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,894,538 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
A |
T |
7: 18,913,687 (GRCm39) |
Y168F |
probably benign |
Het |
| Entrep1 |
T |
A |
19: 23,950,939 (GRCm39) |
R547S |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,883,388 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
C |
A |
16: 12,948,061 (GRCm39) |
A336D |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,037,235 (GRCm39) |
L3629S |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,664,833 (GRCm39) |
R925H |
probably damaging |
Het |
| Gfi1b |
A |
T |
2: 28,503,877 (GRCm39) |
W108R |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,746,508 (GRCm39) |
P108L |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,026,696 (GRCm39) |
F140I |
probably damaging |
Het |
| Hyal2 |
T |
A |
9: 107,449,445 (GRCm39) |
H400Q |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,902,585 (GRCm39) |
Y371H |
probably damaging |
Het |
| Il22b |
T |
G |
10: 118,126,056 (GRCm39) |
*180C |
probably null |
Het |
| Kdm2b |
T |
C |
5: 123,099,604 (GRCm39) |
T118A |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,821,557 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,157,910 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,388,457 (GRCm39) |
P2323T |
unknown |
Het |
| Lrrc38 |
A |
G |
4: 143,077,088 (GRCm39) |
Y117C |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,291,281 (GRCm39) |
V1024A |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,612,637 (GRCm39) |
N904S |
possibly damaging |
Het |
| Or12d13 |
T |
A |
17: 37,647,917 (GRCm39) |
I69F |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,690 (GRCm39) |
H243R |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,437 (GRCm39) |
V194A |
possibly damaging |
Het |
| Pld4 |
A |
T |
12: 112,729,876 (GRCm39) |
I53F |
probably benign |
Het |
| Plekhg4 |
T |
A |
8: 106,108,309 (GRCm39) |
C1117* |
probably null |
Het |
| Prss39 |
G |
A |
1: 34,541,167 (GRCm39) |
E224K |
probably benign |
Het |
| Psme1 |
G |
T |
14: 55,818,107 (GRCm39) |
G149V |
probably damaging |
Het |
| Sanbr |
A |
C |
11: 23,561,762 (GRCm39) |
I358S |
probably benign |
Het |
| Soat2 |
T |
A |
15: 102,061,573 (GRCm39) |
|
probably null |
Het |
| Stab2 |
C |
T |
10: 86,742,997 (GRCm39) |
|
probably null |
Het |
| Tcp1 |
T |
C |
17: 13,142,091 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,899,434 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
T |
C |
6: 97,150,261 (GRCm39) |
D482G |
probably damaging |
Het |
| Trim66 |
G |
T |
7: 109,071,526 (GRCm39) |
P591H |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,178,347 (GRCm39) |
S108P |
probably benign |
Het |
| Unc79 |
T |
G |
12: 103,041,112 (GRCm39) |
M715R |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,383,175 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
G |
10: 12,331,310 (GRCm39) |
|
probably null |
Het |
| Zfp830 |
T |
C |
11: 82,656,165 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R6077:Tcf7l2
|
UTSW |
19 |
55,905,868 (GRCm39) |
nonsense |
probably null |
|
|
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'- GGCTGCGAAAACTTGTAACCGTG -3'
(R):5'- GTTCAGATTGGCACCCCAACAGAG -3'
Sequencing Primer
(F):5'- ctcggggggACACTTGC -3'
(R):5'- AAAGGCTCCCCGAATCGTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation