Incidental Mutation 'R4814:Tcf7l2'
| ID |
369684 |
| 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 |
042432-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55730252-55922086 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 55912504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 478
(C478*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041717]
[ENSMUST00000061496]
[ENSMUST00000111646]
[ENSMUST00000111653]
[ENSMUST00000111654]
[ENSMUST00000111656]
[ENSMUST00000111657]
[ENSMUST00000111662]
[ENSMUST00000111658]
[ENSMUST00000111659]
[ENSMUST00000153888]
[ENSMUST00000148666]
|
| 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 null
Transcript: ENSMUST00000111653
AA Change: C464*
|
| SMART Domains |
Protein: ENSMUSP00000107280
Gene: ENSMUSG00000024985
AA Change: C464*
| 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: ENSMUST00000111654
AA Change: C478*
|
| SMART Domains |
Protein: ENSMUSP00000107281
Gene: ENSMUSG00000024985
AA Change: C478*
| 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 |
noncoding transcript
Transcript: ENSMUST00000145249
|
| 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: 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: 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: 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 |
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (79/79) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
G |
16: 56,471,116 (GRCm39) |
V587G |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,547,632 (GRCm39) |
D1002G |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,926,944 (GRCm39) |
S524P |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,254,687 (GRCm39) |
I385L |
probably benign |
Het |
| Adra1a |
C |
G |
14: 66,875,481 (GRCm39) |
A152G |
probably benign |
Het |
| Agbl4 |
A |
T |
4: 111,513,565 (GRCm39) |
Y437F |
possibly damaging |
Het |
| Amt |
A |
G |
9: 108,176,979 (GRCm39) |
T196A |
probably benign |
Het |
| Apobr |
G |
A |
7: 126,185,859 (GRCm39) |
V457M |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,956,667 (GRCm39) |
K3563E |
probably damaging |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
| Chrna9 |
T |
C |
5: 66,134,492 (GRCm39) |
W448R |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,427,466 (GRCm39) |
D224V |
probably damaging |
Het |
| Ddx10 |
C |
A |
9: 53,115,405 (GRCm39) |
R643L |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,586,896 (GRCm39) |
H200R |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,986,898 (GRCm39) |
R3182S |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Egfr |
T |
C |
11: 16,819,354 (GRCm39) |
C295R |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,281,173 (GRCm39) |
N394K |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,915,322 (GRCm39) |
|
probably null |
Het |
| Gckr |
C |
T |
5: 31,455,644 (GRCm39) |
Q66* |
probably null |
Het |
| Gm26996 |
A |
T |
6: 130,556,317 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9386 |
C |
A |
17: 81,246,141 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr6 |
A |
T |
10: 40,947,258 (GRCm39) |
M108K |
possibly damaging |
Het |
| H2-Q10 |
A |
C |
17: 35,784,481 (GRCm39) |
|
probably benign |
Het |
| Hpf1 |
A |
G |
8: 61,346,841 (GRCm39) |
D52G |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,279,377 (GRCm39) |
R989G |
probably damaging |
Het |
| Kat7 |
A |
G |
11: 95,193,949 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
G |
T |
3: 89,570,031 (GRCm39) |
V615F |
probably damaging |
Het |
| Lgi1 |
G |
T |
19: 38,289,326 (GRCm39) |
|
probably null |
Het |
| Lrrtm4 |
A |
T |
6: 80,000,117 (GRCm39) |
T510S |
possibly damaging |
Het |
| Map7d1 |
A |
G |
4: 126,128,114 (GRCm39) |
|
probably null |
Het |
| Mapt |
T |
C |
11: 104,189,786 (GRCm39) |
V252A |
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,826,260 (GRCm39) |
S223T |
possibly damaging |
Het |
| Meig1 |
T |
A |
2: 3,412,959 (GRCm39) |
I21L |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,113,684 (GRCm39) |
Y447H |
probably damaging |
Het |
| Mrpl46 |
A |
C |
7: 78,430,343 (GRCm39) |
N142K |
probably benign |
Het |
| Myo18a |
C |
A |
11: 77,750,062 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
A |
G |
2: 30,216,523 (GRCm39) |
T776A |
possibly damaging |
Het |
| Oas1h |
C |
A |
5: 121,000,728 (GRCm39) |
H113N |
probably damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,245 (GRCm39) |
T203S |
possibly damaging |
Het |
| Or7g18 |
A |
G |
9: 18,787,213 (GRCm39) |
I197V |
probably benign |
Het |
| Or7g27 |
C |
T |
9: 19,250,476 (GRCm39) |
T240M |
probably damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,817 (GRCm39) |
L144F |
possibly damaging |
Het |
| Orc3 |
T |
A |
4: 34,572,450 (GRCm39) |
|
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,329,980 (GRCm39) |
L65F |
probably damaging |
Het |
| Papola |
C |
A |
12: 105,765,912 (GRCm39) |
P4Q |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,645,022 (GRCm39) |
N151S |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,355,150 (GRCm39) |
L959P |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,080,032 (GRCm39) |
H82Q |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,768,923 (GRCm39) |
T496M |
probably benign |
Het |
| Samd9l |
T |
G |
6: 3,372,863 (GRCm39) |
Q1466P |
probably damaging |
Het |
| Serpina1a |
T |
C |
12: 103,821,022 (GRCm39) |
T342A |
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,231,470 (GRCm39) |
T36A |
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Slc35g1 |
A |
G |
19: 38,391,275 (GRCm39) |
S186G |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,350,899 (GRCm39) |
D126E |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,718,763 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
C |
A |
10: 57,687,337 (GRCm39) |
T355K |
probably damaging |
Het |
| Sntg2 |
A |
G |
12: 30,423,267 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,284 (GRCm39) |
M152L |
probably benign |
Het |
| Spats2l |
G |
T |
1: 57,977,085 (GRCm39) |
A308S |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,777,323 (GRCm39) |
|
probably benign |
Het |
| Tekt5 |
A |
G |
16: 10,200,771 (GRCm39) |
L250P |
probably damaging |
Het |
| Tmem132d |
T |
G |
5: 128,061,328 (GRCm39) |
I425L |
probably benign |
Het |
| Tmem174 |
T |
A |
13: 98,773,456 (GRCm39) |
I125F |
probably damaging |
Het |
| Trafd1 |
T |
G |
5: 121,512,079 (GRCm39) |
I404L |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,636,373 (GRCm39) |
P500S |
possibly damaging |
Het |
| Trpm6 |
T |
A |
19: 18,839,576 (GRCm39) |
N1616K |
probably benign |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,715 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,567 (GRCm39) |
I706F |
probably benign |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zfp982 |
A |
G |
4: 147,597,090 (GRCm39) |
Q149R |
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 |
|
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 |
|
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'- TAGTGATGGCAGACTGGTCC -3'
(R):5'- ACACAGAATAAGCAGGCTGTC -3'
Sequencing Primer
(F):5'- CTTCTGTCCATCCAGGGGAAGAAG -3'
(R):5'- TGTCTAAAGCCCGGTGGAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation