Incidental Mutation 'R7761:Tcf7l2'
| ID |
597905 |
| 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 |
045817-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7761 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55730252-55922086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55914468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 454
(C454S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041717]
[ENSMUST00000061496]
[ENSMUST00000111646]
[ENSMUST00000111653]
[ENSMUST00000111654]
[ENSMUST00000111656]
[ENSMUST00000111657]
[ENSMUST00000111658]
[ENSMUST00000111659]
[ENSMUST00000111662]
[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 damaging
Transcript: ENSMUST00000111646
AA Change: C294S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107273
Gene: ENSMUSG00000024985
AA Change: C294S
| 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 damaging
Transcript: ENSMUST00000111656
AA Change: C454S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107283
Gene: ENSMUSG00000024985
AA Change: C454S
| 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: ENSMUST00000111657
AA Change: C454S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107284
Gene: ENSMUSG00000024985
AA Change: C454S
| 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 damaging
Transcript: ENSMUST00000111662
AA Change: C437S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107291
Gene: ENSMUSG00000024985
AA Change: C437S
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123428
Gene: ENSMUSG00000024985
AA Change: C429S
| 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 damaging
Transcript: ENSMUST00000153888
AA Change: C418S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118661
Gene: ENSMUSG00000024985
AA Change: C418S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (72/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,369,447 (GRCm39) |
C378Y |
probably damaging |
Het |
| Adcy6 |
A |
C |
15: 98,497,895 (GRCm39) |
L421R |
probably damaging |
Het |
| AI837181 |
A |
G |
19: 5,476,319 (GRCm39) |
T161A |
probably benign |
Het |
| Ascl2 |
A |
G |
7: 142,521,840 (GRCm39) |
S203P |
possibly damaging |
Het |
| Casq2 |
G |
T |
3: 102,052,580 (GRCm39) |
W364L |
probably damaging |
Het |
| Cdc20 |
T |
C |
4: 118,293,186 (GRCm39) |
T245A |
possibly damaging |
Het |
| Cfap99 |
C |
T |
5: 34,480,774 (GRCm39) |
Q475* |
probably null |
Het |
| Chmp2b |
G |
A |
16: 65,343,745 (GRCm39) |
T104I |
possibly damaging |
Het |
| Cimap1c |
A |
G |
9: 56,759,822 (GRCm39) |
L16P |
unknown |
Het |
| Cln3 |
A |
T |
7: 126,180,886 (GRCm39) |
Y52N |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,519,340 (GRCm39) |
Y416C |
possibly damaging |
Het |
| Creb3l3 |
T |
C |
10: 80,920,833 (GRCm39) |
D399G |
possibly damaging |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,707 (GRCm39) |
K303* |
probably null |
Het |
| Dbnl |
A |
G |
11: 5,738,597 (GRCm39) |
Q13R |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,987,648 (GRCm39) |
Q2418L |
probably damaging |
Het |
| Echs1 |
A |
T |
7: 139,692,378 (GRCm39) |
I123N |
probably damaging |
Het |
| Exd2 |
T |
C |
12: 80,522,546 (GRCm39) |
S2P |
probably damaging |
Het |
| F2rl1 |
A |
G |
13: 95,650,382 (GRCm39) |
F167L |
probably damaging |
Het |
| Fam83g |
C |
A |
11: 61,575,584 (GRCm39) |
D75E |
possibly damaging |
Het |
| Fes |
T |
C |
7: 80,030,615 (GRCm39) |
D558G |
probably damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,730,803 (GRCm39) |
|
probably null |
Het |
| Gm10283 |
A |
T |
8: 60,954,236 (GRCm39) |
|
probably null |
Het |
| Gm14410 |
T |
C |
2: 176,885,527 (GRCm39) |
N246D |
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,249 (GRCm39) |
Q59L |
probably damaging |
Het |
| Hic1 |
C |
T |
11: 75,058,200 (GRCm39) |
A230T |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,598,196 (GRCm39) |
L1702P |
possibly damaging |
Het |
| Kif13a |
A |
T |
13: 46,951,955 (GRCm39) |
Y773N |
probably benign |
Het |
| Lins1 |
A |
T |
7: 66,363,853 (GRCm39) |
R583* |
probably null |
Het |
| Lrch4 |
T |
A |
5: 137,638,025 (GRCm39) |
H102Q |
|
Het |
| Ltn1 |
T |
C |
16: 87,208,681 (GRCm39) |
T806A |
probably benign |
Het |
| Luc7l2 |
G |
A |
6: 38,531,999 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
C |
6: 15,728,055 (GRCm39) |
I25T |
unknown |
Het |
| Muc16 |
G |
T |
9: 18,491,870 (GRCm39) |
T6727N |
probably damaging |
Het |
| Nalcn |
C |
A |
14: 123,531,791 (GRCm39) |
G1353V |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,531,792 (GRCm39) |
G1353R |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,358,500 (GRCm39) |
P2476S |
probably benign |
Het |
| Nell2 |
T |
C |
15: 95,330,550 (GRCm39) |
T233A |
probably damaging |
Het |
| Nobox |
G |
A |
6: 43,281,125 (GRCm39) |
Q450* |
probably null |
Het |
| Nostrin |
T |
G |
2: 68,991,466 (GRCm39) |
L153R |
possibly damaging |
Het |
| Nup160 |
T |
C |
2: 90,533,456 (GRCm39) |
V635A |
probably benign |
Het |
| Opn4 |
T |
A |
14: 34,320,809 (GRCm39) |
M84L |
probably benign |
Het |
| Or4f14 |
T |
A |
2: 111,743,222 (GRCm39) |
T18S |
probably benign |
Het |
| Or4f53 |
T |
C |
2: 111,087,519 (GRCm39) |
S20P |
possibly damaging |
Het |
| Or4k77 |
C |
T |
2: 111,199,138 (GRCm39) |
H54Y |
probably benign |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,775,926 (GRCm39) |
I184T |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,841,884 (GRCm39) |
Q13R |
probably benign |
Het |
| Pax6 |
T |
G |
2: 105,522,036 (GRCm39) |
F231C |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,079,347 (GRCm39) |
Y30H |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,393,280 (GRCm39) |
T1872A |
probably benign |
Het |
| Pln |
T |
C |
10: 53,220,005 (GRCm39) |
S16P |
probably damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,022,080 (GRCm39) |
E308K |
probably damaging |
Het |
| Prp2 |
C |
T |
6: 132,577,306 (GRCm39) |
Q198* |
probably null |
Het |
| Ptpn20 |
T |
A |
14: 33,344,509 (GRCm39) |
S144R |
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,404,492 (GRCm39) |
F10L |
probably benign |
Het |
| Rapgefl1 |
A |
T |
11: 98,728,485 (GRCm39) |
D169V |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,460 (GRCm39) |
Y811H |
possibly damaging |
Het |
| Rcor1 |
T |
A |
12: 111,076,297 (GRCm39) |
F418L |
|
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Samd11 |
T |
C |
4: 156,332,282 (GRCm39) |
T520A |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,359,798 (GRCm39) |
T137S |
possibly damaging |
Het |
| Sgo2b |
T |
C |
8: 64,379,946 (GRCm39) |
N962S |
probably benign |
Het |
| Slc39a12 |
T |
A |
2: 14,439,141 (GRCm39) |
I465N |
probably benign |
Het |
| Spcs1 |
T |
A |
14: 30,723,607 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,860 (GRCm39) |
V2039A |
probably benign |
Het |
| Syt11 |
G |
T |
3: 88,669,778 (GRCm39) |
T38K |
possibly damaging |
Het |
| Tfap2a |
G |
C |
13: 40,878,656 (GRCm39) |
H155D |
probably benign |
Het |
| Trim46 |
T |
C |
3: 89,149,565 (GRCm39) |
K273R |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,964 (GRCm39) |
V95E |
possibly damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,741 (GRCm39) |
A467T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,550,274 (GRCm39) |
T31636A |
probably benign |
Het |
| U2surp |
A |
G |
9: 95,370,814 (GRCm39) |
V420A |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,940,826 (GRCm39) |
D31G |
probably benign |
Het |
| Vps35 |
T |
C |
8: 86,010,707 (GRCm39) |
E212G |
possibly damaging |
Het |
| Zfp1010 |
T |
C |
2: 176,957,310 (GRCm39) |
I63V |
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 |
|
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 |
|
|
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'- TAGTAACCCGGTCATTGATTTATTCCC -3'
(R):5'- AGCTGGCAGACAAGCACATC -3'
Sequencing Primer
(F):5'- CTTGTTTGTATCTCTCTCCCCC -3'
(R):5'- GACAAGCACATCCCTCGTGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation