Incidental Mutation 'IGL01013:Tcf7l2'
ID |
54095 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01013
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
55730252-55922086 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 55908059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118661
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041717]
[ENSMUST00000061496]
[ENSMUST00000111646]
[ENSMUST00000111653]
[ENSMUST00000111654]
[ENSMUST00000111656]
[ENSMUST00000111657]
[ENSMUST00000111662]
[ENSMUST00000111659]
[ENSMUST00000111658]
[ENSMUST00000153888]
[ENSMUST00000148666]
[ENSMUST00000142291]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041717
|
SMART Domains |
Protein: ENSMUSP00000042950 Gene: ENSMUSG00000024985
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
|
SMART Domains |
Protein: ENSMUSP00000050081 Gene: ENSMUSG00000024985
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: ENSMUST00000111646
|
SMART Domains |
Protein: ENSMUSP00000107273 Gene: ENSMUSG00000024985
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: ENSMUST00000111653
|
SMART Domains |
Protein: ENSMUSP00000107280 Gene: ENSMUSG00000024985
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
|
SMART Domains |
Protein: ENSMUSP00000107281 Gene: ENSMUSG00000024985
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: ENSMUST00000111656
|
SMART Domains |
Protein: ENSMUSP00000107283 Gene: ENSMUSG00000024985
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: ENSMUST00000111657
|
SMART Domains |
Protein: ENSMUSP00000107284 Gene: ENSMUSG00000024985
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: ENSMUST00000111662
|
SMART Domains |
Protein: ENSMUSP00000107291 Gene: ENSMUSG00000024985
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
|
SMART Domains |
Protein: ENSMUSP00000107287 Gene: ENSMUSG00000024985
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: ENSMUST00000111658
|
SMART Domains |
Protein: ENSMUSP00000107286 Gene: ENSMUSG00000024985
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 benign
Transcript: ENSMUST00000127233
|
SMART Domains |
Protein: ENSMUSP00000123428 Gene: ENSMUSG00000024985
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 benign
Transcript: ENSMUST00000153888
|
SMART Domains |
Protein: ENSMUSP00000118661 Gene: ENSMUSG00000024985
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 |
noncoding transcript
Transcript: ENSMUST00000145249
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143334
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148666
|
SMART Domains |
Protein: ENSMUSP00000119759 Gene: ENSMUSG00000024985
Domain | Start | End | E-Value | Type |
Pfam:CTNNB1_binding
|
10 |
106 |
5.7e-39 |
PFAM |
HMG
|
196 |
265 |
1.02e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142291
|
SMART Domains |
Protein: ENSMUSP00000118042 Gene: ENSMUSG00000024985
Domain | Start | End | E-Value | Type |
Pfam:CTNNB1_binding
|
1 |
76 |
5e-40 |
PFAM |
SCOP:d1j46a_
|
164 |
178 |
5e-3 |
SMART |
|
Coding Region Coverage |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
T |
A |
5: 77,034,053 (GRCm39) |
E499D |
possibly damaging |
Het |
Abca1 |
A |
T |
4: 53,038,185 (GRCm39) |
L2059* |
probably null |
Het |
Ankar |
T |
A |
1: 72,690,148 (GRCm39) |
I1228F |
possibly damaging |
Het |
Appl1 |
A |
T |
14: 26,671,433 (GRCm39) |
Y340N |
possibly damaging |
Het |
Atp8b4 |
C |
A |
2: 126,165,007 (GRCm39) |
R1103L |
probably benign |
Het |
B4galt6 |
A |
G |
18: 20,822,070 (GRCm39) |
V308A |
probably damaging |
Het |
Ccdc162 |
G |
A |
10: 41,457,335 (GRCm39) |
P1534L |
probably benign |
Het |
Ccdc78 |
A |
G |
17: 26,008,028 (GRCm39) |
E313G |
possibly damaging |
Het |
Cep57l1 |
G |
A |
10: 41,616,865 (GRCm39) |
R141* |
probably null |
Het |
Cpsf1 |
G |
A |
15: 76,483,497 (GRCm39) |
Q883* |
probably null |
Het |
Crot |
A |
G |
5: 9,043,575 (GRCm39) |
Y16H |
probably benign |
Het |
Cyld |
T |
G |
8: 89,468,990 (GRCm39) |
L587R |
probably damaging |
Het |
Fam114a1 |
G |
A |
5: 65,188,738 (GRCm39) |
|
probably null |
Het |
Fam89b |
G |
T |
19: 5,779,397 (GRCm39) |
D53E |
probably benign |
Het |
Fig4 |
T |
C |
10: 41,143,782 (GRCm39) |
M226V |
probably benign |
Het |
Gm10722 |
A |
T |
9: 3,002,230 (GRCm39) |
Y184F |
probably damaging |
Het |
Hp |
C |
A |
8: 110,305,653 (GRCm39) |
|
probably benign |
Het |
Igsf9b |
G |
T |
9: 27,245,600 (GRCm39) |
R1189L |
probably damaging |
Het |
Ilf3 |
A |
G |
9: 21,310,987 (GRCm39) |
N620D |
possibly damaging |
Het |
Jakmip3 |
A |
C |
7: 138,619,302 (GRCm39) |
E228A |
possibly damaging |
Het |
Kpna3 |
A |
T |
14: 61,607,966 (GRCm39) |
I413K |
probably damaging |
Het |
Letm1 |
A |
T |
5: 33,919,934 (GRCm39) |
C202S |
possibly damaging |
Het |
Lmod2 |
C |
A |
6: 24,604,134 (GRCm39) |
Q370K |
probably damaging |
Het |
Map4k5 |
T |
C |
12: 69,874,300 (GRCm39) |
|
probably benign |
Het |
Mcidas |
T |
A |
13: 113,134,119 (GRCm39) |
|
probably benign |
Het |
Mme |
A |
G |
3: 63,235,281 (GRCm39) |
|
probably null |
Het |
Mrc1 |
T |
C |
2: 14,333,236 (GRCm39) |
W1306R |
probably damaging |
Het |
Mthfd1l |
C |
A |
10: 3,980,716 (GRCm39) |
Q473K |
probably damaging |
Het |
Muc6 |
A |
T |
7: 141,234,333 (GRCm39) |
C719* |
probably null |
Het |
Nsun7 |
T |
C |
5: 66,440,944 (GRCm39) |
I355T |
possibly damaging |
Het |
Padi6 |
A |
G |
4: 140,456,314 (GRCm39) |
L560P |
probably damaging |
Het |
Parl |
C |
A |
16: 20,101,540 (GRCm39) |
A285S |
possibly damaging |
Het |
Pclo |
A |
T |
5: 14,843,848 (GRCm39) |
M4795L |
unknown |
Het |
Polr2f |
A |
G |
15: 79,030,329 (GRCm39) |
Y56C |
probably damaging |
Het |
Rasgrp2 |
A |
T |
19: 6,454,413 (GRCm39) |
H152L |
probably damaging |
Het |
Rpl10l |
T |
C |
12: 66,331,001 (GRCm39) |
D44G |
probably benign |
Het |
Slc25a16 |
A |
G |
10: 62,780,212 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
G |
A |
2: 127,074,392 (GRCm39) |
E1411K |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,515,891 (GRCm39) |
R3Q |
probably damaging |
Het |
Tbc1d32 |
G |
T |
10: 56,078,055 (GRCm39) |
|
probably null |
Het |
Tnrc6c |
G |
T |
11: 117,612,855 (GRCm39) |
V498L |
probably benign |
Het |
Tymp |
G |
A |
15: 89,260,513 (GRCm39) |
H102Y |
probably damaging |
Het |
Wdr76 |
T |
C |
2: 121,365,978 (GRCm39) |
S492P |
probably benign |
Het |
Zc3h12d |
T |
C |
10: 7,715,720 (GRCm39) |
I41T |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2013-06-28 |