Incidental Mutation 'R5222:Tcf7l2'
ID |
402396 |
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 |
042795-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5222 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
55730252-55922086 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55887044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 19
(Q19R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041717]
[ENSMUST00000061496]
[ENSMUST00000111646]
[ENSMUST00000111649]
[ENSMUST00000111651]
[ENSMUST00000111652]
[ENSMUST00000111657]
[ENSMUST00000111659]
[ENSMUST00000142291]
[ENSMUST00000111653]
[ENSMUST00000111656]
[ENSMUST00000111658]
[ENSMUST00000111662]
[ENSMUST00000111654]
[ENSMUST00000148666]
[ENSMUST00000153888]
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000133008
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127653
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126434
|
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: 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: 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: 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 |
|
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: 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: 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: 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: 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: ENSMUST00000148666
AA Change: Q19R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119759 Gene: ENSMUSG00000024985 AA Change: Q19R
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: ENSMUST00000143334
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145249
|
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 |
|
Meta Mutation Damage Score |
0.0608 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (52/53) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
C |
A |
1: 159,872,178 (GRCm39) |
|
noncoding transcript |
Het |
Acad11 |
G |
A |
9: 103,974,576 (GRCm39) |
A515T |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,539,730 (GRCm39) |
Y43C |
probably damaging |
Het |
Arhgef33 |
A |
G |
17: 80,644,743 (GRCm39) |
Y24C |
probably damaging |
Het |
Cd40 |
G |
C |
2: 164,908,464 (GRCm39) |
S180T |
probably benign |
Het |
Cenpc1 |
A |
T |
5: 86,185,606 (GRCm39) |
S302T |
possibly damaging |
Het |
Cit |
C |
A |
5: 116,090,602 (GRCm39) |
T932K |
probably benign |
Het |
Col19a1 |
A |
C |
1: 24,598,721 (GRCm39) |
|
probably null |
Het |
Dapk3 |
A |
G |
10: 81,028,294 (GRCm39) |
E288G |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,437,192 (GRCm39) |
F1002S |
probably damaging |
Het |
Dgke |
G |
T |
11: 88,941,220 (GRCm39) |
T321K |
probably benign |
Het |
Ebf2 |
T |
G |
14: 67,551,043 (GRCm39) |
|
probably benign |
Het |
Enpp7 |
A |
G |
11: 118,881,788 (GRCm39) |
D311G |
probably benign |
Het |
Epm2a |
A |
G |
10: 11,324,493 (GRCm39) |
E194G |
probably damaging |
Het |
Esf1 |
A |
G |
2: 140,000,503 (GRCm39) |
Y428H |
possibly damaging |
Het |
Esyt2 |
T |
C |
12: 116,282,446 (GRCm39) |
F132S |
probably damaging |
Het |
Gm5455 |
T |
C |
13: 110,441,494 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
T |
A |
11: 57,080,623 (GRCm39) |
V202E |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Mark1 |
A |
T |
1: 184,660,288 (GRCm39) |
F123I |
probably damaging |
Het |
Nectin4 |
T |
A |
1: 171,212,825 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
A |
11: 58,934,971 (GRCm39) |
T5220S |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2l13 |
A |
C |
16: 19,305,680 (GRCm39) |
I31L |
probably benign |
Het |
Or2p2 |
T |
A |
13: 21,256,739 (GRCm39) |
H244L |
probably damaging |
Het |
Pdcd1 |
A |
T |
1: 93,980,175 (GRCm39) |
V14E |
probably damaging |
Het |
Pmel |
A |
G |
10: 128,554,853 (GRCm39) |
|
probably null |
Het |
Pramel28 |
T |
A |
4: 143,691,362 (GRCm39) |
I454F |
possibly damaging |
Het |
Prrx1 |
C |
T |
1: 163,089,542 (GRCm39) |
R95Q |
probably damaging |
Het |
Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
Ptprq |
A |
G |
10: 107,498,425 (GRCm39) |
I884T |
probably damaging |
Het |
Rad17 |
G |
A |
13: 100,770,399 (GRCm39) |
T216I |
possibly damaging |
Het |
Rif1 |
T |
C |
2: 51,967,032 (GRCm39) |
I107T |
probably benign |
Het |
Rpp14 |
T |
C |
14: 8,087,513 (GRCm38) |
L69P |
probably damaging |
Het |
Rtel1 |
G |
T |
2: 180,988,776 (GRCm39) |
|
probably benign |
Het |
Sap130 |
C |
T |
18: 31,799,756 (GRCm39) |
T362M |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,644,268 (GRCm39) |
|
probably null |
Het |
Sec31a |
G |
T |
5: 100,530,754 (GRCm39) |
T243N |
probably benign |
Het |
Slc5a9 |
T |
A |
4: 111,755,808 (GRCm39) |
H30L |
possibly damaging |
Het |
Slco6b1 |
T |
A |
1: 96,925,216 (GRCm39) |
|
noncoding transcript |
Het |
Smarca4 |
A |
G |
9: 21,567,002 (GRCm39) |
D694G |
probably benign |
Het |
Spaca6 |
A |
G |
17: 18,058,367 (GRCm39) |
T213A |
probably benign |
Het |
Tagap |
C |
A |
17: 8,152,473 (GRCm39) |
Q553K |
possibly damaging |
Het |
Tagap |
A |
T |
17: 8,152,474 (GRCm39) |
Q553L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,709,197 (GRCm39) |
|
probably benign |
Het |
Ubr7 |
A |
T |
12: 102,741,964 (GRCm39) |
R399S |
probably benign |
Het |
Uspl1 |
C |
A |
5: 149,150,911 (GRCm39) |
Q690K |
possibly damaging |
Het |
Vps8 |
T |
A |
16: 21,400,298 (GRCm39) |
Y853* |
probably null |
Het |
Vrk3 |
A |
T |
7: 44,409,220 (GRCm39) |
Q129L |
possibly damaging |
Het |
Wapl |
T |
A |
14: 34,458,642 (GRCm39) |
C901* |
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 |
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 |
|
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'- GTCCCATCTTGAAGGTACAGAG -3'
(R):5'- CTGCACTGACCATTCATTCTGG -3'
Sequencing Primer
(F):5'- GCTATTATGTACCCCAGGGA -3'
(R):5'- GCACTGACCATTCATTCTGGTTTTG -3'
|
Posted On |
2016-07-22 |