Incidental Mutation 'R8350:Tle1'
| ID |
660208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle1
|
| Ensembl Gene |
ENSMUSG00000008305 |
| Gene Name |
transducin-like enhancer of split 1 |
| Synonyms |
C230057C06Rik, Estm14, Grg1, Tle4l |
| MMRRC Submission |
067868-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.575)
|
| Stock # |
R8350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
72035379-72119156 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 72057203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030095]
[ENSMUST00000072695]
[ENSMUST00000074216]
[ENSMUST00000102848]
[ENSMUST00000140154]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030095
|
| SMART Domains |
Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
143 |
9.1e-77 |
PFAM |
|
low complexity region
|
155 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
|
WD40
|
484 |
521 |
4.18e-2 |
SMART |
|
WD40
|
527 |
568 |
1.03e-1 |
SMART |
|
WD40
|
573 |
612 |
9.38e-5 |
SMART |
|
WD40
|
615 |
654 |
1.14e-8 |
SMART |
|
WD40
|
657 |
695 |
3.07e1 |
SMART |
|
WD40
|
697 |
736 |
8.96e-2 |
SMART |
|
WD40
|
737 |
777 |
4.14e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072695
|
| SMART Domains |
Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
2.6e-78 |
PFAM |
|
low complexity region
|
145 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
412 |
N/A |
INTRINSIC |
|
WD40
|
474 |
511 |
4.18e-2 |
SMART |
|
WD40
|
517 |
558 |
1.03e-1 |
SMART |
|
WD40
|
563 |
602 |
9.38e-5 |
SMART |
|
WD40
|
605 |
644 |
1.14e-8 |
SMART |
|
WD40
|
647 |
685 |
3.07e1 |
SMART |
|
WD40
|
687 |
726 |
8.96e-2 |
SMART |
|
WD40
|
727 |
767 |
4.14e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074216
|
| SMART Domains |
Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
1.3e-78 |
PFAM |
|
low complexity region
|
145 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
412 |
N/A |
INTRINSIC |
|
WD40
|
474 |
511 |
4.18e-2 |
SMART |
|
WD40
|
517 |
558 |
1.03e-1 |
SMART |
|
WD40
|
563 |
602 |
9.38e-5 |
SMART |
|
WD40
|
605 |
644 |
1.14e-8 |
SMART |
|
WD40
|
647 |
685 |
3.07e1 |
SMART |
|
WD40
|
687 |
726 |
8.96e-2 |
SMART |
|
WD40
|
727 |
767 |
4.14e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102848
|
| SMART Domains |
Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
144 |
1.3e-76 |
PFAM |
|
low complexity region
|
153 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
419 |
N/A |
INTRINSIC |
|
WD40
|
481 |
518 |
4.18e-2 |
SMART |
|
WD40
|
524 |
565 |
1.03e-1 |
SMART |
|
WD40
|
570 |
609 |
9.38e-5 |
SMART |
|
WD40
|
612 |
651 |
1.14e-8 |
SMART |
|
WD40
|
654 |
692 |
3.07e1 |
SMART |
|
WD40
|
694 |
733 |
8.96e-2 |
SMART |
|
WD40
|
734 |
774 |
4.14e-1 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140154
AA Change: K132N
|
| SMART Domains |
Protein: ENSMUSP00000118513
Gene: ENSMUSG00000008305
AA Change: K132N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
51 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
G |
T |
5: 8,978,578 (GRCm39) |
|
probably null |
Het |
| Adam29 |
A |
G |
8: 56,325,224 (GRCm39) |
V410A |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,850,815 (GRCm39) |
T575A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,804,353 (GRCm39) |
K877E |
possibly damaging |
Het |
| Arpin |
A |
T |
7: 79,581,615 (GRCm39) |
I35N |
possibly damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcas1 |
T |
C |
2: 170,248,220 (GRCm39) |
N234D |
possibly damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,783,668 (GRCm39) |
G649E |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,322,181 (GRCm39) |
L516Q |
probably damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,512,494 (GRCm39) |
V90L |
probably benign |
Het |
| Cyb5b |
A |
G |
8: 107,896,552 (GRCm39) |
Y91C |
possibly damaging |
Het |
| Cystm1 |
T |
C |
18: 36,526,303 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,327,231 (GRCm39) |
Q727K |
probably damaging |
Het |
| Dpf3 |
G |
A |
12: 83,397,625 (GRCm39) |
R80C |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,127,667 (GRCm39) |
T882M |
probably damaging |
Het |
| Fam136a |
A |
G |
6: 86,345,795 (GRCm39) |
K104R |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,793,614 (GRCm39) |
V1172A |
probably benign |
Het |
| Foxc1 |
C |
T |
13: 31,991,548 (GRCm39) |
Q120* |
probably null |
Het |
| Grin1 |
G |
A |
2: 25,188,323 (GRCm39) |
R448C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,238,949 (GRCm39) |
P411S |
probably damaging |
Het |
| Irgq |
T |
A |
7: 24,233,165 (GRCm39) |
D335E |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,503,960 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,602,947 (GRCm39) |
E874G |
probably damaging |
Het |
| Lrp8 |
A |
G |
4: 107,704,661 (GRCm39) |
N168D |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,824,973 (GRCm39) |
C1529* |
probably null |
Het |
| Mau2 |
A |
T |
8: 70,495,242 (GRCm39) |
Y32N |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,227,998 (GRCm39) |
N638K |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,300,200 (GRCm39) |
D1611E |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,805 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
G |
8: 22,603,688 (GRCm39) |
V138A |
probably damaging |
Het |
| Opcml |
A |
T |
9: 28,813,463 (GRCm39) |
E251D |
probably benign |
Het |
| Or13c7e-ps1 |
T |
A |
4: 43,782,175 (GRCm39) |
I52F |
probably benign |
Het |
| Or1j14 |
T |
A |
2: 36,418,176 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,717,260 (GRCm39) |
M274L |
probably benign |
Het |
| Pde1b |
A |
T |
15: 103,411,901 (GRCm39) |
M1L |
probably benign |
Het |
| Pias1 |
G |
A |
9: 62,859,266 (GRCm39) |
H72Y |
probably damaging |
Het |
| Postn |
G |
A |
3: 54,277,679 (GRCm39) |
V225I |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,353,483 (GRCm39) |
V661A |
probably benign |
Het |
| Ptpn1 |
T |
A |
2: 167,816,161 (GRCm39) |
F225Y |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,868,898 (GRCm39) |
V1425M |
probably damaging |
Het |
| Rbfox1 |
C |
A |
16: 7,094,954 (GRCm39) |
S111R |
probably benign |
Het |
| Rbm24 |
T |
C |
13: 46,572,676 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
G |
4: 121,027,954 (GRCm39) |
K224T |
probably damaging |
Het |
| Scgb2b3 |
G |
A |
7: 31,061,485 (GRCm39) |
L5F |
probably damaging |
Het |
| Sdr42e2 |
T |
C |
7: 120,419,873 (GRCm39) |
L206P |
probably damaging |
Het |
| Serpinb9g |
A |
G |
13: 33,676,854 (GRCm39) |
E212G |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,257,146 (GRCm39) |
Y524C |
probably damaging |
Het |
| Sh3pxd2a |
C |
A |
19: 47,258,277 (GRCm39) |
E475D |
probably null |
Het |
| Skil |
A |
G |
3: 31,151,603 (GRCm39) |
T42A |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,311,207 (GRCm39) |
V203A |
probably damaging |
Het |
| Sugp2 |
C |
T |
8: 70,695,641 (GRCm39) |
R205* |
probably null |
Het |
| Tmem63c |
T |
A |
12: 87,119,660 (GRCm39) |
L318Q |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,717,759 (GRCm39) |
I248V |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,741 (GRCm39) |
C707* |
probably null |
Het |
| Xdh |
C |
T |
17: 74,241,837 (GRCm39) |
G154D |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,355,713 (GRCm39) |
D3491E |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,341,869 (GRCm39) |
L77P |
probably damaging |
Het |
| Zer1 |
C |
T |
2: 29,991,862 (GRCm39) |
E653K |
probably damaging |
Het |
| Zfyve27 |
T |
C |
19: 42,167,911 (GRCm39) |
V151A |
probably benign |
Het |
| Zim1 |
T |
A |
7: 6,685,064 (GRCm39) |
S129C |
probably damaging |
Het |
|
| Other mutations in Tle1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Tle1
|
APN |
4 |
72,087,355 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00972:Tle1
|
APN |
4 |
72,040,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Tle1
|
APN |
4 |
72,088,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01737:Tle1
|
APN |
4 |
72,116,058 (GRCm39) |
splice site |
probably benign |
|
|
IGL01798:Tle1
|
APN |
4 |
72,055,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Tle1
|
APN |
4 |
72,040,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Tle1
|
UTSW |
4 |
72,118,239 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
BB016:Tle1
|
UTSW |
4 |
72,118,239 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
PIT4515001:Tle1
|
UTSW |
4 |
72,117,556 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0140:Tle1
|
UTSW |
4 |
72,038,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Tle1
|
UTSW |
4 |
72,043,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0603:Tle1
|
UTSW |
4 |
72,036,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Tle1
|
UTSW |
4 |
72,044,679 (GRCm39) |
splice site |
probably benign |
|
|
R0786:Tle1
|
UTSW |
4 |
72,117,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0939:Tle1
|
UTSW |
4 |
72,036,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1297:Tle1
|
UTSW |
4 |
72,043,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Tle1
|
UTSW |
4 |
72,058,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Tle1
|
UTSW |
4 |
72,058,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Tle1
|
UTSW |
4 |
72,059,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Tle1
|
UTSW |
4 |
72,038,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Tle1
|
UTSW |
4 |
72,117,556 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3713:Tle1
|
UTSW |
4 |
72,044,659 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4367:Tle1
|
UTSW |
4 |
72,036,400 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4379:Tle1
|
UTSW |
4 |
72,036,400 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4380:Tle1
|
UTSW |
4 |
72,036,400 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4655:Tle1
|
UTSW |
4 |
72,063,581 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4662:Tle1
|
UTSW |
4 |
72,055,335 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4731:Tle1
|
UTSW |
4 |
72,043,256 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4732:Tle1
|
UTSW |
4 |
72,043,256 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4733:Tle1
|
UTSW |
4 |
72,043,256 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4812:Tle1
|
UTSW |
4 |
72,063,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5066:Tle1
|
UTSW |
4 |
72,076,504 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5288:Tle1
|
UTSW |
4 |
72,060,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Tle1
|
UTSW |
4 |
72,060,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5405:Tle1
|
UTSW |
4 |
72,057,208 (GRCm39) |
intron |
probably benign |
|
|
R5579:Tle1
|
UTSW |
4 |
72,058,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Tle1
|
UTSW |
4 |
72,043,208 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5762:Tle1
|
UTSW |
4 |
72,038,372 (GRCm39) |
splice site |
probably null |
|
|
R6617:Tle1
|
UTSW |
4 |
72,059,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6750:Tle1
|
UTSW |
4 |
72,040,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7077:Tle1
|
UTSW |
4 |
72,076,612 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7153:Tle1
|
UTSW |
4 |
72,057,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7156:Tle1
|
UTSW |
4 |
72,088,953 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7266:Tle1
|
UTSW |
4 |
72,057,924 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7316:Tle1
|
UTSW |
4 |
72,036,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7478:Tle1
|
UTSW |
4 |
72,055,349 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7523:Tle1
|
UTSW |
4 |
72,063,655 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7736:Tle1
|
UTSW |
4 |
72,117,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7862:Tle1
|
UTSW |
4 |
72,117,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7863:Tle1
|
UTSW |
4 |
72,059,529 (GRCm39) |
missense |
probably null |
0.68 |
|
R7929:Tle1
|
UTSW |
4 |
72,118,239 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8074:Tle1
|
UTSW |
4 |
72,057,216 (GRCm39) |
frame shift |
probably null |
|
|
R8233:Tle1
|
UTSW |
4 |
72,043,181 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8315:Tle1
|
UTSW |
4 |
72,044,428 (GRCm39) |
nonsense |
probably null |
|
|
R8494:Tle1
|
UTSW |
4 |
72,043,241 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8512:Tle1
|
UTSW |
4 |
72,040,670 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8919:Tle1
|
UTSW |
4 |
72,076,525 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9171:Tle1
|
UTSW |
4 |
72,043,232 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9192:Tle1
|
UTSW |
4 |
72,036,753 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9391:Tle1
|
UTSW |
4 |
72,116,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Tle1
|
UTSW |
4 |
72,040,596 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9481:Tle1
|
UTSW |
4 |
72,044,504 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9497:Tle1
|
UTSW |
4 |
72,071,135 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAACCTGACCAATGATTCTAG -3'
(R):5'- AAGTAGCAGCCTGAGTCCAG -3'
Sequencing Primer
(F):5'- CTTCAGGGGATAGCAATCATGATCC -3'
(R):5'- TCCAGGGGAATTAGGCACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation