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 |
TCF4B, mTcf-4B, mTcf-4E, TCF4E, Tcf4, Tcf-4 |
| 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 |
55741810-55933654 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55898612 bp (GRCm38)
|
| 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]
[ENSMUST00000111653]
[ENSMUST00000111654]
[ENSMUST00000111656]
[ENSMUST00000111657]
[ENSMUST00000111658]
[ENSMUST00000111659]
[ENSMUST00000148666]
[ENSMUST00000142291]
[ENSMUST00000153888]
[ENSMUST00000111662]
|
| 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 |
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: 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: 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: 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: ENSMUST00000133008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126434
|
| 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: 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: 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: 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 |
|
| 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: 160,044,608 |
|
noncoding transcript |
Het |
| Acad11 |
G |
A |
9: 104,097,377 |
A515T |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,676,334 |
Y43C |
probably damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,337,314 |
Y24C |
probably damaging |
Het |
| Cd40 |
G |
C |
2: 165,066,544 |
S180T |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,037,747 |
S302T |
possibly damaging |
Het |
| Cit |
C |
A |
5: 115,952,543 |
T932K |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,559,640 |
|
probably null |
Het |
| Dapk3 |
A |
G |
10: 81,192,460 |
E288G |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 61,984,158 |
F1002S |
probably damaging |
Het |
| Dgke |
G |
T |
11: 89,050,394 |
T321K |
probably benign |
Het |
| Ebf2 |
T |
G |
14: 67,313,594 |
|
probably benign |
Het |
| Enpp7 |
A |
G |
11: 118,990,962 |
D311G |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,448,749 |
E194G |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 140,158,583 |
Y428H |
possibly damaging |
Het |
| Esyt2 |
T |
C |
12: 116,318,826 |
F132S |
probably damaging |
Het |
| Gm13101 |
T |
A |
4: 143,964,792 |
I454F |
possibly damaging |
Het |
| Gm5455 |
T |
C |
13: 110,304,960 |
|
noncoding transcript |
Het |
| Gria1 |
T |
A |
11: 57,189,797 |
V202E |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,669,198 |
L351I |
probably benign |
Het |
| Mark1 |
A |
T |
1: 184,928,091 |
F123I |
probably damaging |
Het |
| Nectin4 |
T |
A |
1: 171,385,257 |
|
probably null |
Het |
| Obscn |
T |
A |
11: 59,044,145 |
T5220S |
possibly damaging |
Het |
| Olfr1 |
AGCGGTCGTAGGC |
AGC |
11: 73,395,654 |
|
probably null |
Het |
| Olfr1370 |
T |
A |
13: 21,072,569 |
H244L |
probably damaging |
Het |
| Olfr166 |
A |
C |
16: 19,486,930 |
I31L |
probably benign |
Het |
| Pdcd1 |
A |
T |
1: 94,052,450 |
V14E |
probably damaging |
Het |
| Pmel |
A |
G |
10: 128,718,984 |
|
probably null |
Het |
| Prrx1 |
C |
T |
1: 163,261,973 |
R95Q |
probably damaging |
Het |
| Pstpip2 |
T |
A |
18: 77,874,332 |
Y267* |
probably null |
Het |
| Ptprq |
A |
G |
10: 107,662,564 |
I884T |
probably damaging |
Het |
| Rad17 |
G |
A |
13: 100,633,891 |
T216I |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 52,077,020 |
I107T |
probably benign |
Het |
| Rpp14 |
T |
C |
14: 8,087,513 |
L69P |
probably damaging |
Het |
| Rtel1 |
G |
T |
2: 181,346,983 |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,666,703 |
T362M |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,815,202 |
|
probably null |
Het |
| Sec31a |
G |
T |
5: 100,382,895 |
T243N |
probably benign |
Het |
| Slc5a9 |
T |
A |
4: 111,898,611 |
H30L |
possibly damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,997,491 |
|
noncoding transcript |
Het |
| Smarca4 |
A |
G |
9: 21,655,706 |
D694G |
probably benign |
Het |
| Spaca6 |
A |
G |
17: 17,838,105 |
T213A |
probably benign |
Het |
| Tagap |
C |
A |
17: 7,933,641 |
Q553K |
possibly damaging |
Het |
| Tagap |
A |
T |
17: 7,933,642 |
Q553L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,878,853 |
|
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,775,705 |
R399S |
probably benign |
Het |
| Uspl1 |
C |
A |
5: 149,214,101 |
Q690K |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,581,548 |
Y853* |
probably null |
Het |
| Vrk3 |
A |
T |
7: 44,759,796 |
Q129L |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,736,685 |
C901* |
probably null |
Het |
|
| Other mutations in Tcf7l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Tcf7l2
|
APN |
19 |
55917421 |
missense |
probably damaging |
1.00 |
|
IGL01013:Tcf7l2
|
APN |
19 |
55919627 |
splice site |
probably benign |
|
|
IGL02871:Tcf7l2
|
APN |
19 |
55918997 |
missense |
probably damaging |
1.00 |
|
banned
|
UTSW |
19 |
55931432 |
critical splice acceptor site |
probably null |
|
|
Notable
|
UTSW |
19 |
55926740 |
missense |
unknown |
|
|
PIT4468001:Tcf7l2
|
UTSW |
19 |
55742388 |
missense |
probably damaging |
1.00 |
|
R0927:Tcf7l2
|
UTSW |
19 |
55918955 |
missense |
probably damaging |
1.00 |
|
R1078:Tcf7l2
|
UTSW |
19 |
55743195 |
missense |
probably benign |
0.19 |
|
R4580:Tcf7l2
|
UTSW |
19 |
55919036 |
missense |
probably damaging |
1.00 |
|
R4721:Tcf7l2
|
UTSW |
19 |
55931454 |
missense |
possibly damaging |
0.89 |
|
R4814:Tcf7l2
|
UTSW |
19 |
55924072 |
nonsense |
probably null |
|
|
R4957:Tcf7l2
|
UTSW |
19 |
55931432 |
critical splice acceptor site |
probably null |
|
|
R5484:Tcf7l2
|
UTSW |
19 |
55919508 |
splice site |
probably null |
|
|
R5808:Tcf7l2
|
UTSW |
19 |
55908541 |
missense |
probably damaging |
1.00 |
|
R5914:Tcf7l2
|
UTSW |
19 |
55898560 |
missense |
probably benign |
0.00 |
|
R6077:Tcf7l2
|
UTSW |
19 |
55917436 |
nonsense |
probably null |
|
|
R6116:Tcf7l2
|
UTSW |
19 |
55919014 |
missense |
probably damaging |
1.00 |
|
R6861:Tcf7l2
|
UTSW |
19 |
55742523 |
missense |
probably damaging |
1.00 |
|
R6970:Tcf7l2
|
UTSW |
19 |
55755048 |
missense |
probably benign |
0.44 |
|
R7009:Tcf7l2
|
UTSW |
19 |
55894733 |
critical splice donor site |
probably null |
|
|
R7382:Tcf7l2
|
UTSW |
19 |
55926740 |
missense |
unknown |
|
|
R7669:Tcf7l2
|
UTSW |
19 |
55924543 |
nonsense |
probably null |
|
|
R7761:Tcf7l2
|
UTSW |
19 |
55926036 |
missense |
probably damaging |
1.00 |
|
R7823:Tcf7l2
|
UTSW |
19 |
55743089 |
missense |
possibly damaging |
0.73 |
|
R7952:Tcf7l2
|
UTSW |
19 |
55898557 |
start codon destroyed |
probably benign |
0.00 |
|
R8753:Tcf7l2
|
UTSW |
19 |
55931763 |
missense |
possibly damaging |
0.60 |
|
R9333:Tcf7l2
|
UTSW |
19 |
55931496 |
nonsense |
probably null |
|
|
R9342:Tcf7l2
|
UTSW |
19 |
55743085 |
missense |
probably benign |
|
|
R9395:Tcf7l2
|
UTSW |
19 |
55931768 |
nonsense |
probably null |
|
|
R9610:Tcf7l2
|
UTSW |
19 |
55910606 |
missense |
probably null |
1.00 |
|
R9611:Tcf7l2
|
UTSW |
19 |
55910606 |
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 |
Incidental Mutation