Incidental Mutation 'R9018:Tle3'
| ID |
686141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle3
|
| Ensembl Gene |
ENSMUSG00000032280 |
| Gene Name |
transducin-like enhancer of split 3 |
| Synonyms |
2610103N05Rik, ESG, Grg3a, Grg3b |
| MMRRC Submission |
068848-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9018 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
61279648-61325779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61319750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 506
(I506N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034820]
[ENSMUST00000159050]
[ENSMUST00000159386]
[ENSMUST00000159630]
[ENSMUST00000160882]
[ENSMUST00000161207]
[ENSMUST00000161689]
[ENSMUST00000161993]
[ENSMUST00000162127]
[ENSMUST00000162583]
[ENSMUST00000162973]
[ENSMUST00000178113]
|
| AlphaFold |
Q08122 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034820
AA Change: I506N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034820
Gene: ENSMUSG00000032280
AA Change: I506N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
4.3e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
468 |
505 |
2.96e-2 |
SMART |
|
WD40
|
511 |
552 |
4.48e-2 |
SMART |
|
WD40
|
557 |
596 |
2.84e-4 |
SMART |
|
WD40
|
599 |
638 |
7.55e-9 |
SMART |
|
WD40
|
641 |
679 |
3.07e1 |
SMART |
|
WD40
|
681 |
720 |
4.18e-2 |
SMART |
|
WD40
|
721 |
761 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159050
AA Change: I509N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125032
Gene: ENSMUSG00000032280
AA Change: I509N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
2.1e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
471 |
508 |
2.96e-2 |
SMART |
|
WD40
|
514 |
555 |
4.48e-2 |
SMART |
|
WD40
|
560 |
599 |
2.84e-4 |
SMART |
|
WD40
|
602 |
641 |
7.55e-9 |
SMART |
|
WD40
|
644 |
682 |
3.07e1 |
SMART |
|
WD40
|
684 |
723 |
4.18e-2 |
SMART |
|
WD40
|
724 |
764 |
1.79e-1 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000125049
Gene: ENSMUSG00000032280
AA Change: I502N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
2.1e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
464 |
501 |
2.96e-2 |
SMART |
|
WD40
|
507 |
548 |
4.48e-2 |
SMART |
|
WD40
|
553 |
592 |
2.84e-4 |
SMART |
|
WD40
|
595 |
634 |
7.55e-9 |
SMART |
|
WD40
|
637 |
675 |
3.07e1 |
SMART |
|
WD40
|
677 |
716 |
4.18e-2 |
SMART |
|
WD40
|
717 |
757 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159630
AA Change: I454N
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123723
Gene: ENSMUSG00000032280
AA Change: I454N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
79 |
1.7e-43 |
PFAM |
|
low complexity region
|
104 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
245 |
N/A |
INTRINSIC |
|
WD40
|
416 |
453 |
2.96e-2 |
SMART |
|
WD40
|
459 |
500 |
4.48e-2 |
SMART |
|
WD40
|
505 |
544 |
2.84e-4 |
SMART |
|
WD40
|
547 |
586 |
7.55e-9 |
SMART |
|
WD40
|
589 |
627 |
3.07e1 |
SMART |
|
WD40
|
629 |
668 |
4.18e-2 |
SMART |
|
WD40
|
669 |
709 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160882
AA Change: I524N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124131
Gene: ENSMUSG00000032280
AA Change: I524N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
146 |
4.8e-76 |
PFAM |
|
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
312 |
N/A |
INTRINSIC |
|
WD40
|
486 |
523 |
2.96e-2 |
SMART |
|
WD40
|
529 |
570 |
4.48e-2 |
SMART |
|
WD40
|
575 |
614 |
2.84e-4 |
SMART |
|
WD40
|
617 |
656 |
7.55e-9 |
SMART |
|
WD40
|
659 |
697 |
3.07e1 |
SMART |
|
WD40
|
699 |
738 |
4.18e-2 |
SMART |
|
WD40
|
739 |
779 |
1.79e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161207
AA Change: I504N
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124557
Gene: ENSMUSG00000032280
AA Change: I504N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
129 |
1e-73 |
PFAM |
|
low complexity region
|
154 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
295 |
N/A |
INTRINSIC |
|
WD40
|
466 |
503 |
2.96e-2 |
SMART |
|
WD40
|
509 |
550 |
4.48e-2 |
SMART |
|
WD40
|
555 |
594 |
2.84e-4 |
SMART |
|
WD40
|
597 |
636 |
7.55e-9 |
SMART |
|
WD40
|
639 |
677 |
3.07e1 |
SMART |
|
WD40
|
679 |
718 |
4.18e-2 |
SMART |
|
WD40
|
719 |
759 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161689
AA Change: I458N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125011
Gene: ENSMUSG00000032280
AA Change: I458N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
80 |
4.8e-44 |
PFAM |
|
low complexity region
|
105 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
|
WD40
|
420 |
457 |
2.96e-2 |
SMART |
|
WD40
|
463 |
504 |
4.48e-2 |
SMART |
|
WD40
|
509 |
548 |
2.84e-4 |
SMART |
|
WD40
|
551 |
590 |
7.55e-9 |
SMART |
|
WD40
|
593 |
631 |
3.07e1 |
SMART |
|
WD40
|
633 |
672 |
4.18e-2 |
SMART |
|
WD40
|
673 |
713 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161993
|
| SMART Domains |
Protein: ENSMUSP00000124432
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
135 |
2e-77 |
PFAM |
|
low complexity region
|
160 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162127
AA Change: I444N
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124150
Gene: ENSMUSG00000032280
AA Change: I444N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
83 |
1.2e-37 |
PFAM |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
249 |
N/A |
INTRINSIC |
|
WD40
|
406 |
443 |
2.96e-2 |
SMART |
|
WD40
|
449 |
490 |
4.48e-2 |
SMART |
|
WD40
|
495 |
534 |
2.84e-4 |
SMART |
|
WD40
|
537 |
576 |
7.55e-9 |
SMART |
|
WD40
|
579 |
617 |
3.07e1 |
SMART |
|
WD40
|
619 |
658 |
4.18e-2 |
SMART |
|
WD40
|
659 |
699 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162583
AA Change: I511N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124977
Gene: ENSMUSG00000032280
AA Change: I511N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
3.9e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
473 |
510 |
2.96e-2 |
SMART |
|
WD40
|
516 |
557 |
4.48e-2 |
SMART |
|
WD40
|
562 |
601 |
2.84e-4 |
SMART |
|
WD40
|
604 |
643 |
7.55e-9 |
SMART |
|
WD40
|
646 |
684 |
3.07e1 |
SMART |
|
WD40
|
686 |
725 |
4.18e-2 |
SMART |
|
WD40
|
726 |
766 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162973
AA Change: I514N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124173
Gene: ENSMUSG00000032280
AA Change: I514N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
3.9e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
476 |
513 |
2.96e-2 |
SMART |
|
WD40
|
519 |
560 |
4.48e-2 |
SMART |
|
WD40
|
565 |
604 |
2.84e-4 |
SMART |
|
WD40
|
607 |
646 |
7.55e-9 |
SMART |
|
WD40
|
649 |
687 |
3.07e1 |
SMART |
|
WD40
|
689 |
728 |
4.18e-2 |
SMART |
|
WD40
|
729 |
769 |
1.79e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178113
AA Change: I525N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136010
Gene: ENSMUSG00000032280
AA Change: I525N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
143 |
6e-73 |
PFAM |
|
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
313 |
N/A |
INTRINSIC |
|
WD40
|
487 |
524 |
2.96e-2 |
SMART |
|
WD40
|
530 |
571 |
4.48e-2 |
SMART |
|
WD40
|
576 |
615 |
2.84e-4 |
SMART |
|
WD40
|
618 |
657 |
7.55e-9 |
SMART |
|
WD40
|
660 |
698 |
3.07e1 |
SMART |
|
WD40
|
700 |
739 |
4.18e-2 |
SMART |
|
WD40
|
740 |
780 |
1.79e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (77/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homzoygous for a gene trap allele exhibit embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,918,532 (GRCm39) |
E1552G |
probably damaging |
Het |
| Abca14 |
A |
T |
7: 119,888,763 (GRCm39) |
K1236N |
probably benign |
Het |
| Adam3 |
A |
T |
8: 25,184,292 (GRCm39) |
Y569* |
probably null |
Het |
| Adgrb2 |
A |
G |
4: 129,907,659 (GRCm39) |
T998A |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,098,993 (GRCm39) |
H166Q |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,606,264 (GRCm39) |
G1219S |
probably null |
Het |
| Ankrd11 |
A |
G |
8: 123,622,251 (GRCm39) |
S534P |
probably damaging |
Het |
| Atn1 |
C |
T |
6: 124,722,661 (GRCm39) |
E805K |
unknown |
Het |
| Bsn |
T |
C |
9: 107,994,488 (GRCm39) |
T596A |
probably benign |
Het |
| Cacnb4 |
C |
T |
2: 52,324,706 (GRCm39) |
R452Q |
probably benign |
Het |
| Cdc123 |
C |
A |
2: 5,849,683 (GRCm39) |
A13S |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,847,083 (GRCm39) |
G1609S |
possibly damaging |
Het |
| Cp |
T |
A |
3: 20,043,316 (GRCm39) |
C1035S |
probably damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,742,836 (GRCm39) |
C1383S |
probably damaging |
Het |
| Derl3 |
G |
A |
10: 75,729,604 (GRCm39) |
V54I |
probably benign |
Het |
| Dgcr6 |
T |
C |
16: 17,884,607 (GRCm39) |
L25P |
probably damaging |
Het |
| Dmrt2 |
A |
G |
19: 25,650,985 (GRCm39) |
E57G |
probably benign |
Het |
| Dnaaf11 |
A |
T |
15: 66,321,479 (GRCm39) |
S221T |
probably benign |
Het |
| Dst |
A |
G |
1: 34,235,140 (GRCm39) |
K3562E |
probably damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,696,014 (GRCm39) |
T415A |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbln1 |
T |
C |
15: 85,126,215 (GRCm39) |
I484T |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,542,004 (GRCm39) |
D1250E |
possibly damaging |
Het |
| Ift88 |
A |
C |
14: 57,675,702 (GRCm39) |
K72Q |
probably benign |
Het |
| Impg1 |
T |
A |
9: 80,301,474 (GRCm39) |
I228F |
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,708,091 (GRCm39) |
N799S |
possibly damaging |
Het |
| Jade1 |
T |
A |
3: 41,564,292 (GRCm39) |
C521S |
probably benign |
Het |
| Katna1 |
T |
G |
10: 7,637,040 (GRCm39) |
L397R |
probably damaging |
Het |
| Kcnj15 |
A |
C |
16: 95,097,129 (GRCm39) |
K250N |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,409,941 (GRCm39) |
I236M |
possibly damaging |
Het |
| Mapk13 |
C |
T |
17: 28,996,760 (GRCm39) |
R276C |
probably benign |
Het |
| Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
| Mindy4 |
C |
T |
6: 55,278,072 (GRCm39) |
H639Y |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,436,713 (GRCm39) |
S544P |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,582,910 (GRCm39) |
Y492H |
|
Het |
| Mybbp1a |
C |
T |
11: 72,334,420 (GRCm39) |
T225I |
probably benign |
Het |
| Myo6 |
A |
T |
9: 80,159,086 (GRCm39) |
K285I |
unknown |
Het |
| Nmd3 |
G |
A |
3: 69,647,328 (GRCm39) |
V277I |
probably benign |
Het |
| Nol9 |
G |
C |
4: 152,123,918 (GRCm39) |
R36P |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,639,712 (GRCm39) |
R13G |
possibly damaging |
Het |
| Nudt14 |
G |
A |
12: 112,902,906 (GRCm39) |
H40Y |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
| Or5b118 |
A |
T |
19: 13,448,721 (GRCm39) |
H87L |
possibly damaging |
Het |
| Or8d1b |
T |
A |
9: 38,887,687 (GRCm39) |
F238L |
probably benign |
Het |
| Pcnx4 |
T |
A |
12: 72,603,437 (GRCm39) |
F492I |
probably damaging |
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Pgghg |
A |
G |
7: 140,524,579 (GRCm39) |
I309V |
probably benign |
Het |
| Phf12 |
C |
T |
11: 77,914,510 (GRCm39) |
P651S |
possibly damaging |
Het |
| Pltp |
A |
G |
2: 164,694,410 (GRCm39) |
L199P |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,437,675 (GRCm39) |
L78I |
probably benign |
Het |
| Ppm1d |
C |
A |
11: 85,227,961 (GRCm39) |
H292Q |
probably damaging |
Het |
| Ppp2cb |
A |
C |
8: 34,105,787 (GRCm39) |
I224L |
probably benign |
Het |
| Rabggta |
A |
T |
14: 55,957,880 (GRCm39) |
I171N |
probably damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,712,132 (GRCm39) |
I740V |
probably damaging |
Het |
| Rb1cc1 |
G |
A |
1: 6,319,490 (GRCm39) |
E970K |
probably benign |
Het |
| Rnh1 |
A |
T |
7: 140,748,544 (GRCm39) |
V11D |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,315,520 (GRCm39) |
T288I |
probably benign |
Het |
| Scmh1 |
A |
G |
4: 120,362,514 (GRCm39) |
D250G |
probably benign |
Het |
| Sele |
T |
A |
1: 163,881,248 (GRCm39) |
C483S |
probably damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,174,585 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
A |
G |
10: 76,002,546 (GRCm39) |
E234G |
possibly damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,355 (GRCm39) |
L954P |
probably damaging |
Het |
| St7 |
T |
A |
6: 17,906,494 (GRCm39) |
N413K |
probably damaging |
Het |
| Stam2 |
C |
T |
2: 52,606,463 (GRCm39) |
V141I |
probably benign |
Het |
| Stim1 |
C |
T |
7: 102,060,482 (GRCm39) |
T175I |
probably benign |
Het |
| Strap |
A |
G |
6: 137,716,811 (GRCm39) |
N130S |
probably benign |
Het |
| Stxbp2 |
A |
G |
8: 3,692,627 (GRCm39) |
|
probably benign |
Het |
| Sult3a2 |
T |
A |
10: 33,655,689 (GRCm39) |
I97F |
probably benign |
Het |
| Tbc1d32 |
A |
T |
10: 55,948,693 (GRCm39) |
N965K |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tvp23a |
A |
G |
16: 10,264,846 (GRCm39) |
S22P |
probably damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,539 (GRCm39) |
N846S |
probably damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,316,020 (GRCm39) |
N472S |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,944,864 (GRCm39) |
Q10* |
probably null |
Het |
| Zfp423 |
G |
C |
8: 88,508,381 (GRCm39) |
S654R |
probably benign |
Het |
| Zfp646 |
A |
T |
7: 127,478,243 (GRCm39) |
H140L |
probably benign |
Het |
| Zfp719 |
C |
A |
7: 43,233,489 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tle3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Tle3
|
APN |
9 |
61,316,039 (GRCm39) |
splice site |
probably benign |
|
|
IGL00671:Tle3
|
APN |
9 |
61,319,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Tle3
|
APN |
9 |
61,317,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01684:Tle3
|
APN |
9 |
61,310,728 (GRCm39) |
intron |
probably benign |
|
|
IGL02109:Tle3
|
APN |
9 |
61,320,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02386:Tle3
|
APN |
9 |
61,301,941 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02517:Tle3
|
APN |
9 |
61,322,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Tle3
|
APN |
9 |
61,301,981 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03103:Tle3
|
APN |
9 |
61,300,524 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0391:Tle3
|
UTSW |
9 |
61,323,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Tle3
|
UTSW |
9 |
61,317,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0621:Tle3
|
UTSW |
9 |
61,317,387 (GRCm39) |
nonsense |
probably null |
|
|
R1836:Tle3
|
UTSW |
9 |
61,321,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Tle3
|
UTSW |
9 |
61,318,622 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1978:Tle3
|
UTSW |
9 |
61,301,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Tle3
|
UTSW |
9 |
61,321,376 (GRCm39) |
splice site |
probably null |
|
|
R4242:Tle3
|
UTSW |
9 |
61,314,705 (GRCm39) |
missense |
probably benign |
|
|
R4587:Tle3
|
UTSW |
9 |
61,281,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4811:Tle3
|
UTSW |
9 |
61,281,279 (GRCm39) |
unclassified |
probably benign |
|
|
R4877:Tle3
|
UTSW |
9 |
61,280,781 (GRCm39) |
intron |
probably benign |
|
|
R4913:Tle3
|
UTSW |
9 |
61,281,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Tle3
|
UTSW |
9 |
61,314,771 (GRCm39) |
splice site |
probably null |
|
|
R5745:Tle3
|
UTSW |
9 |
61,322,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Tle3
|
UTSW |
9 |
61,314,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5917:Tle3
|
UTSW |
9 |
61,316,190 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6000:Tle3
|
UTSW |
9 |
61,281,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Tle3
|
UTSW |
9 |
61,309,206 (GRCm39) |
splice site |
probably null |
|
|
R7210:Tle3
|
UTSW |
9 |
61,319,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Tle3
|
UTSW |
9 |
61,320,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7545:Tle3
|
UTSW |
9 |
61,301,984 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7698:Tle3
|
UTSW |
9 |
61,320,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Tle3
|
UTSW |
9 |
61,314,410 (GRCm39) |
missense |
probably benign |
|
|
R8075:Tle3
|
UTSW |
9 |
61,281,841 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8941:Tle3
|
UTSW |
9 |
61,320,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9060:Tle3
|
UTSW |
9 |
61,282,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9109:Tle3
|
UTSW |
9 |
61,319,562 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9122:Tle3
|
UTSW |
9 |
61,314,755 (GRCm39) |
unclassified |
probably benign |
|
|
R9298:Tle3
|
UTSW |
9 |
61,319,562 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGGGCAGATGCAACCTG -3'
(R):5'- AGCCTAAGAGTCATCTCCATTCG -3'
Sequencing Primer
(F):5'- GTGCCCTTCCCCCATGATG -3'
(R):5'- AGAGTCATCTCCATTCGCAGATG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation