Incidental Mutation 'R0927:Tcf7l2'
ID |
80579 |
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 |
039074-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0927 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
55730252-55922086 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55907387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 340
(M340V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041717]
[ENSMUST00000061496]
[ENSMUST00000111646]
[ENSMUST00000111653]
[ENSMUST00000111654]
[ENSMUST00000111656]
[ENSMUST00000111662]
[ENSMUST00000142291]
[ENSMUST00000111657]
[ENSMUST00000148666]
[ENSMUST00000153888]
[ENSMUST00000111658]
[ENSMUST00000111659]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041717
AA Change: M335V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042950 Gene: ENSMUSG00000024985 AA Change: M335V
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 damaging
Transcript: ENSMUST00000061496
AA Change: M335V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050081 Gene: ENSMUSG00000024985 AA Change: M335V
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 damaging
Transcript: ENSMUST00000111646
AA Change: M175V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107273 Gene: ENSMUSG00000024985 AA Change: M175V
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 damaging
Transcript: ENSMUST00000111653
AA Change: M340V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000107280 Gene: ENSMUSG00000024985 AA Change: M340V
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 damaging
Transcript: ENSMUST00000111654
AA Change: M354V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107281 Gene: ENSMUSG00000024985 AA Change: M354V
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 damaging
Transcript: ENSMUST00000111656
AA Change: M335V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107283 Gene: ENSMUSG00000024985 AA Change: M335V
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 damaging
Transcript: ENSMUST00000111662
AA Change: M335V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107291 Gene: ENSMUSG00000024985 AA Change: M335V
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 |
possibly damaging
Transcript: ENSMUST00000142291
AA Change: M175V
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118042 Gene: ENSMUSG00000024985 AA Change: M175V
Domain | Start | End | E-Value | Type |
Pfam:CTNNB1_binding
|
1 |
76 |
5e-40 |
PFAM |
SCOP:d1j46a_
|
164 |
178 |
5e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111657
AA Change: M335V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107284 Gene: ENSMUSG00000024985 AA Change: M335V
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 damaging
Transcript: ENSMUST00000148666
AA Change: M205V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119759 Gene: ENSMUSG00000024985 AA Change: M205V
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 damaging
Transcript: ENSMUST00000153888
AA Change: M316V
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000118661 Gene: ENSMUSG00000024985 AA Change: M316V
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 damaging
Transcript: ENSMUST00000111658
AA Change: M359V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107286 Gene: ENSMUSG00000024985 AA Change: M359V
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 damaging
Transcript: ENSMUST00000111659
AA Change: M340V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107287 Gene: ENSMUSG00000024985 AA Change: M340V
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 |
unknown
Transcript: ENSMUST00000127233
AA Change: M327V
|
SMART Domains |
Protein: ENSMUSP00000123428 Gene: ENSMUSG00000024985 AA Change: M327V
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 |
noncoding transcript
Transcript: ENSMUST00000143334
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145249
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.7%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
C |
5: 24,607,317 (GRCm39) |
L363P |
probably damaging |
Het |
Adam12 |
T |
A |
7: 133,599,959 (GRCm39) |
H85L |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,104,621 (GRCm39) |
H341Q |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,078,160 (GRCm39) |
M688K |
probably benign |
Het |
Adam7 |
A |
G |
14: 68,754,133 (GRCm39) |
L322P |
probably damaging |
Het |
Adcy5 |
T |
A |
16: 34,976,613 (GRCm39) |
S49T |
probably benign |
Het |
Arfgap2 |
T |
C |
2: 91,104,150 (GRCm39) |
S374P |
probably benign |
Het |
Arpp19 |
G |
A |
9: 74,944,967 (GRCm39) |
|
probably benign |
Het |
Baz1a |
T |
C |
12: 54,941,773 (GRCm39) |
K1478E |
probably damaging |
Het |
Cdc27 |
G |
T |
11: 104,396,467 (GRCm39) |
A812E |
possibly damaging |
Het |
Chtf8 |
G |
A |
8: 107,612,150 (GRCm39) |
T263I |
probably damaging |
Het |
Clcn6 |
T |
C |
4: 148,113,849 (GRCm39) |
N70D |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,349,553 (GRCm39) |
T289S |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,795,840 (GRCm39) |
N177S |
probably damaging |
Het |
Edar |
G |
T |
10: 58,465,313 (GRCm39) |
|
probably null |
Het |
Enam |
T |
A |
5: 88,641,919 (GRCm39) |
N244K |
possibly damaging |
Het |
Fbxw10 |
A |
G |
11: 62,767,770 (GRCm39) |
K874E |
probably damaging |
Het |
Glra3 |
A |
G |
8: 56,578,239 (GRCm39) |
E432G |
possibly damaging |
Het |
Grin3b |
G |
A |
10: 79,807,062 (GRCm39) |
R110Q |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,845,748 (GRCm39) |
V423D |
possibly damaging |
Het |
Ifit2 |
A |
T |
19: 34,550,984 (GRCm39) |
T175S |
probably benign |
Het |
Kcnj8 |
T |
G |
6: 142,511,627 (GRCm39) |
I327L |
possibly damaging |
Het |
Kcns2 |
A |
T |
15: 34,839,242 (GRCm39) |
I202F |
probably benign |
Het |
Kif12 |
T |
C |
4: 63,087,010 (GRCm39) |
R305G |
possibly damaging |
Het |
Limch1 |
A |
G |
5: 67,154,576 (GRCm39) |
D362G |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,687,540 (GRCm39) |
I2815T |
probably damaging |
Het |
Lrrtm1 |
G |
T |
6: 77,221,843 (GRCm39) |
M433I |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,462,040 (GRCm39) |
D312G |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,344,758 (GRCm39) |
I382N |
probably damaging |
Het |
Nudt6 |
C |
T |
3: 37,459,502 (GRCm39) |
R161H |
probably benign |
Het |
Or10w1 |
T |
A |
19: 13,631,816 (GRCm39) |
W8R |
probably damaging |
Het |
Or11g2 |
A |
C |
14: 50,856,044 (GRCm39) |
M122L |
possibly damaging |
Het |
Or4m1 |
A |
T |
14: 50,558,186 (GRCm39) |
Y35* |
probably null |
Het |
Or7e166 |
C |
T |
9: 19,624,945 (GRCm39) |
A274V |
probably benign |
Het |
Pmf1 |
A |
T |
3: 88,303,369 (GRCm39) |
V64D |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,009,048 (GRCm39) |
V29D |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,380,790 (GRCm39) |
H411L |
possibly damaging |
Het |
Pramel26 |
A |
T |
4: 143,539,378 (GRCm39) |
D38E |
probably benign |
Het |
Prex1 |
C |
T |
2: 166,428,457 (GRCm39) |
A925T |
probably benign |
Het |
Pus3 |
A |
G |
9: 35,476,327 (GRCm39) |
Y72C |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,642,176 (GRCm39) |
S247P |
probably damaging |
Het |
Rnf213 |
T |
A |
11: 119,305,396 (GRCm39) |
D542E |
probably benign |
Het |
Sidt1 |
T |
C |
16: 44,063,895 (GRCm39) |
D786G |
probably benign |
Het |
Sirt6 |
A |
T |
10: 81,458,475 (GRCm39) |
D219E |
probably damaging |
Het |
Slc36a2 |
A |
T |
11: 55,072,411 (GRCm39) |
I67N |
probably damaging |
Het |
Slc47a1 |
A |
G |
11: 61,264,248 (GRCm39) |
F57S |
probably damaging |
Het |
Spg11 |
T |
A |
2: 121,924,968 (GRCm39) |
T756S |
probably damaging |
Het |
Sptbn1 |
C |
A |
11: 30,071,591 (GRCm39) |
R1447L |
probably damaging |
Het |
Thap1 |
T |
C |
8: 26,652,733 (GRCm39) |
V157A |
probably benign |
Het |
Ubash3b |
G |
A |
9: 40,934,853 (GRCm39) |
Q354* |
probably null |
Het |
Ubtd1 |
G |
A |
19: 42,020,460 (GRCm39) |
W68* |
probably null |
Het |
Wdr64 |
G |
T |
1: 175,620,647 (GRCm39) |
R793L |
probably damaging |
Het |
Zbtb24 |
C |
T |
10: 41,327,432 (GRCm39) |
T106I |
probably benign |
Het |
Zbtb26 |
T |
C |
2: 37,326,337 (GRCm39) |
N233S |
possibly damaging |
Het |
Zcchc24 |
A |
T |
14: 25,757,585 (GRCm39) |
N99K |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGAAGGAGCATGGGATCTGCTTTG -3'
(R):5'- TCCGGGCCAGCTCGTAGTATTTTG -3'
Sequencing Primer
(F):5'- GGATCTGCTTTGGGGGAAG -3'
(R):5'- ACCCATTGCTGTATCTATGACAGG -3'
|
Posted On |
2013-11-07 |