Incidental Mutation 'R5484:Tcf7l2'
| ID |
430346 |
| 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 |
043045-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5484 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55730252-55922086 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 55907940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041717]
[ENSMUST00000041717]
[ENSMUST00000061496]
[ENSMUST00000061496]
[ENSMUST00000111646]
[ENSMUST00000111646]
[ENSMUST00000111653]
[ENSMUST00000111653]
[ENSMUST00000111654]
[ENSMUST00000111654]
[ENSMUST00000111656]
[ENSMUST00000111656]
[ENSMUST00000111657]
[ENSMUST00000111657]
[ENSMUST00000111658]
[ENSMUST00000111658]
[ENSMUST00000111659]
[ENSMUST00000111659]
[ENSMUST00000111662]
[ENSMUST00000111662]
[ENSMUST00000148666]
[ENSMUST00000148666]
[ENSMUST00000153888]
[ENSMUST00000153888]
[ENSMUST00000142291]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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: 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
|
| 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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000145249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143334
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| Validation Efficiency |
97% (76/78) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,313,851 (GRCm39) |
H609R |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,074,899 (GRCm39) |
V1388E |
probably damaging |
Het |
| Alx1 |
T |
A |
10: 102,861,177 (GRCm39) |
D117V |
probably damaging |
Het |
| Ascl4 |
T |
C |
10: 85,764,401 (GRCm39) |
L16P |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,420,097 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
G |
A |
11: 58,814,651 (GRCm39) |
V444M |
probably damaging |
Het |
| Camkv |
A |
T |
9: 107,823,345 (GRCm39) |
N124Y |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,542,175 (GRCm39) |
L625P |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,612,199 (GRCm39) |
I973V |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,815,483 (GRCm39) |
D1844G |
probably benign |
Het |
| Chd7 |
G |
C |
4: 8,828,258 (GRCm39) |
K1066N |
probably damaging |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,515,827 (GRCm39) |
D409G |
probably benign |
Het |
| Cry1 |
T |
C |
10: 84,982,588 (GRCm39) |
|
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,427,689 (GRCm39) |
|
probably benign |
Het |
| Cyrib |
T |
A |
15: 63,815,056 (GRCm39) |
T139S |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,022,531 (GRCm39) |
V1623E |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,069,099 (GRCm39) |
D2477E |
possibly damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dop1a |
C |
G |
9: 86,427,341 (GRCm39) |
R2164G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,368,014 (GRCm39) |
T678A |
possibly damaging |
Het |
| Farsb |
A |
C |
1: 78,452,833 (GRCm39) |
I51S |
probably damaging |
Het |
| Gm10220 |
T |
A |
5: 26,322,930 (GRCm39) |
I161L |
possibly damaging |
Het |
| Gm10782 |
G |
T |
13: 56,510,987 (GRCm39) |
|
noncoding transcript |
Het |
| Gm12830 |
A |
T |
4: 114,702,248 (GRCm39) |
T137S |
unknown |
Het |
| Gopc |
A |
G |
10: 52,234,942 (GRCm39) |
L67P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,551,291 (GRCm39) |
I2655V |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,283,066 (GRCm39) |
Q1981* |
probably null |
Het |
| Ifi209 |
T |
A |
1: 173,468,640 (GRCm39) |
S157T |
probably benign |
Het |
| Ift56 |
T |
G |
6: 38,366,057 (GRCm39) |
C124W |
probably benign |
Het |
| Iqcf1 |
A |
T |
9: 106,379,107 (GRCm39) |
I74F |
probably damaging |
Het |
| Irf3 |
A |
T |
7: 44,649,382 (GRCm39) |
R78W |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,663,022 (GRCm39) |
D722G |
probably benign |
Het |
| Loxl1 |
A |
G |
9: 58,198,065 (GRCm39) |
V597A |
possibly damaging |
Het |
| Marveld1 |
T |
C |
19: 42,136,272 (GRCm39) |
L62P |
probably damaging |
Het |
| Mga |
T |
G |
2: 119,747,107 (GRCm39) |
D419E |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,938,463 (GRCm39) |
K251E |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,142,644 (GRCm39) |
E935G |
probably damaging |
Het |
| Nat8f2 |
C |
A |
6: 85,844,994 (GRCm39) |
A123S |
possibly damaging |
Het |
| Niban1 |
A |
G |
1: 151,593,837 (GRCm39) |
T841A |
probably benign |
Het |
| Or4d11 |
G |
A |
19: 12,013,192 (GRCm39) |
L305F |
probably benign |
Het |
| Pcdha9 |
T |
A |
18: 37,131,156 (GRCm39) |
V75E |
probably damaging |
Het |
| Pebp4 |
A |
T |
14: 70,200,991 (GRCm39) |
|
probably null |
Het |
| Pitx1 |
A |
G |
13: 55,974,166 (GRCm39) |
S222P |
probably benign |
Het |
| Plekhg3 |
G |
A |
12: 76,625,174 (GRCm39) |
V1339M |
possibly damaging |
Het |
| Plekhs1 |
C |
T |
19: 56,468,260 (GRCm39) |
S276L |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,932 (GRCm39) |
T700A |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,048,412 (GRCm39) |
|
probably null |
Het |
| Pms2 |
T |
C |
5: 143,864,943 (GRCm39) |
I675T |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,577,888 (GRCm39) |
L268P |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,248,025 (GRCm39) |
T33A |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,882,346 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,085,941 (GRCm39) |
P1383Q |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,244,569 (GRCm39) |
C758S |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,317,160 (GRCm39) |
|
probably benign |
Het |
| Slc13a2 |
G |
A |
11: 78,295,648 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,278,631 (GRCm39) |
Y126H |
probably damaging |
Het |
| Strip2 |
C |
A |
6: 29,917,154 (GRCm39) |
|
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,805,230 (GRCm39) |
T440A |
probably damaging |
Het |
| Tgfb1 |
A |
C |
7: 25,387,574 (GRCm39) |
D94A |
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,797 (GRCm39) |
C968R |
probably damaging |
Het |
| Tmem176b |
T |
A |
6: 48,811,467 (GRCm39) |
M61L |
probably benign |
Het |
| Tmem258 |
A |
G |
19: 10,184,689 (GRCm39) |
|
probably null |
Het |
| Tpr |
T |
C |
1: 150,302,639 (GRCm39) |
L1379S |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,383,123 (GRCm39) |
D157G |
possibly damaging |
Het |
| Wfdc8 |
T |
C |
2: 164,439,649 (GRCm39) |
I244M |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,466,921 (GRCm39) |
S97P |
probably benign |
Het |
| Zfp655 |
T |
C |
5: 145,180,445 (GRCm39) |
V101A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,299,277 (GRCm39) |
S586P |
probably damaging |
Het |
| Zfp874b |
C |
T |
13: 67,629,373 (GRCm39) |
V52I |
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 |
|
|
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'- TCCTGTCATAGATACAGCAATGGG -3'
(R):5'- TTGCAGACGCCCACTATGTG -3'
Sequencing Primer
(F):5'- GATATACTTTCTATGAGGACCCCTG -3'
(R):5'- TGTGCATAAAGACTGAGTCCTCCG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation