Incidental Mutation 'R0140:Tle1'
| ID |
22244 |
| 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 |
038425-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.575)
|
| Stock # |
R0140 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
72035379-72119156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72038422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 702
(H702Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030095]
[ENSMUST00000072695]
[ENSMUST00000074216]
[ENSMUST00000102848]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030095
AA Change: H705Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: H705Y
| 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
AA Change: H695Y
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: H695Y
| 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 |
possibly damaging
Transcript: ENSMUST00000074216
AA Change: H695Y
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: H695Y
| 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 damaging
Transcript: ENSMUST00000102848
AA Change: H702Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: H702Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000123259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132550
|
| Meta Mutation Damage Score |
0.2789 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 9330161L09Rik |
T |
C |
12: 103,373,587 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
T |
G |
2: 25,328,097 (GRCm39) |
|
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,401,379 (GRCm39) |
K13R |
probably benign |
Het |
| Arhgap15 |
C |
A |
2: 44,212,779 (GRCm39) |
F416L |
probably damaging |
Het |
| Arhgef26 |
C |
G |
3: 62,355,666 (GRCm39) |
T746R |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,408,379 (GRCm39) |
T2422I |
probably benign |
Het |
| Atp4a |
C |
G |
7: 30,419,526 (GRCm39) |
R659G |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,063,399 (GRCm39) |
D348E |
probably benign |
Het |
| Blnk |
A |
T |
19: 40,928,668 (GRCm39) |
S285T |
probably damaging |
Het |
| Calr3 |
C |
T |
8: 73,188,732 (GRCm39) |
|
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,208,120 (GRCm39) |
V1124D |
probably benign |
Het |
| Ccdc40 |
G |
A |
11: 119,155,125 (GRCm39) |
G1122S |
probably benign |
Het |
| Ccdc69 |
C |
A |
11: 54,941,325 (GRCm39) |
C196F |
possibly damaging |
Het |
| Cdhr3 |
T |
G |
12: 33,130,412 (GRCm39) |
N141T |
probably benign |
Het |
| Cdk4 |
T |
C |
10: 126,900,214 (GRCm39) |
V37A |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,305,249 (GRCm39) |
R2110K |
probably benign |
Het |
| Clcn7 |
A |
G |
17: 25,372,728 (GRCm39) |
Y437C |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,579,474 (GRCm39) |
F1917S |
probably damaging |
Het |
| Cps1 |
T |
G |
1: 67,219,275 (GRCm39) |
S872A |
probably benign |
Het |
| Crebbp |
G |
T |
16: 3,935,363 (GRCm39) |
T842N |
probably damaging |
Het |
| Dennd2d |
G |
A |
3: 106,399,799 (GRCm39) |
V234I |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,523 (GRCm39) |
M130V |
possibly damaging |
Het |
| Fbxw24 |
G |
T |
9: 109,434,482 (GRCm39) |
L373I |
possibly damaging |
Het |
| Fubp3 |
T |
C |
2: 31,498,196 (GRCm39) |
Y359H |
probably damaging |
Het |
| Gm19684 |
T |
C |
17: 36,438,319 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
C |
T |
3: 93,238,800 (GRCm39) |
Q3013* |
probably null |
Het |
| Il12rb1 |
T |
C |
8: 71,272,415 (GRCm39) |
|
probably benign |
Het |
| Lepr |
A |
T |
4: 101,625,264 (GRCm39) |
D473V |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,940,004 (GRCm39) |
Y820* |
probably null |
Het |
| Nfil3 |
G |
A |
13: 53,121,681 (GRCm39) |
Q408* |
probably null |
Het |
| Nolc1 |
G |
A |
19: 46,069,817 (GRCm39) |
|
probably benign |
Het |
| Npbwr1 |
A |
C |
1: 5,986,840 (GRCm39) |
Y225D |
probably damaging |
Het |
| Nrip3 |
T |
C |
7: 109,361,022 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
A |
C |
3: 87,685,875 (GRCm39) |
L749R |
probably damaging |
Het |
| Or10ag53 |
A |
G |
2: 87,082,969 (GRCm39) |
I229M |
probably damaging |
Het |
| Or2b11 |
A |
G |
11: 59,461,804 (GRCm39) |
L254P |
probably damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,463 (GRCm39) |
V242D |
probably damaging |
Het |
| Or52a24 |
A |
G |
7: 103,381,349 (GRCm39) |
D72G |
probably damaging |
Het |
| Or6c211 |
G |
T |
10: 129,505,557 (GRCm39) |
T277N |
probably damaging |
Het |
| Paox |
A |
T |
7: 139,713,971 (GRCm39) |
T244S |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,014 (GRCm39) |
D669E |
possibly damaging |
Het |
| Pggt1b |
A |
G |
18: 46,391,150 (GRCm39) |
|
probably null |
Het |
| Phkg1 |
T |
A |
5: 129,893,449 (GRCm39) |
I334F |
probably benign |
Het |
| Phtf1 |
A |
T |
3: 103,894,876 (GRCm39) |
R208W |
probably null |
Het |
| Pnliprp2 |
A |
T |
19: 58,754,795 (GRCm39) |
I280F |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,694,147 (GRCm39) |
M1V |
probably null |
Het |
| Prcp |
A |
G |
7: 92,577,819 (GRCm39) |
T328A |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,532 (GRCm39) |
N541K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,486,315 (GRCm39) |
F315L |
possibly damaging |
Het |
| Septin2 |
A |
G |
1: 93,429,361 (GRCm39) |
R237G |
probably damaging |
Het |
| Setd6 |
T |
A |
8: 96,442,737 (GRCm39) |
L58Q |
probably damaging |
Het |
| Sipa1l1 |
G |
A |
12: 82,442,974 (GRCm39) |
V755I |
probably damaging |
Het |
| Slc16a12 |
G |
T |
19: 34,650,104 (GRCm39) |
|
probably benign |
Het |
| Slk |
G |
A |
19: 47,610,774 (GRCm39) |
D815N |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,074,439 (GRCm39) |
|
probably benign |
Het |
| Tbc1d15 |
T |
A |
10: 115,056,124 (GRCm39) |
I283F |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,545,259 (GRCm39) |
I2425T |
possibly damaging |
Het |
| Tmc6 |
A |
G |
11: 117,657,077 (GRCm39) |
|
probably benign |
Het |
| Tmem268 |
G |
A |
4: 63,496,096 (GRCm39) |
R179H |
possibly damaging |
Het |
| Tmem9 |
A |
G |
1: 135,961,900 (GRCm39) |
K165R |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,796,558 (GRCm39) |
|
probably null |
Het |
| Tufm |
C |
T |
7: 126,089,003 (GRCm39) |
P88S |
probably damaging |
Het |
| Ubqln1 |
A |
G |
13: 58,341,103 (GRCm39) |
I216T |
probably damaging |
Het |
| Urad |
T |
G |
5: 147,259,141 (GRCm39) |
M1L |
probably benign |
Het |
| Utp6 |
A |
G |
11: 79,847,551 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
C |
T |
2: 27,163,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r55 |
G |
T |
7: 12,402,104 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Wwox |
T |
G |
8: 115,433,027 (GRCm39) |
V231G |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,482,678 (GRCm39) |
N1618K |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,790,377 (GRCm39) |
M2110I |
possibly 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 |
|
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 |
|
|
R8350:Tle1
|
UTSW |
4 |
72,057,203 (GRCm39) |
intron |
probably benign |
|
|
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'- TCATTGCCCTCCAAACTTCAGAGC -3'
(R):5'- GGCAGATTAAACCCACTTTTCGACCC -3'
Sequencing Primer
(F):5'- GAGACACACATTACTCTTCTCTGAG -3'
(R):5'- GCTTACTCCACTTGCTGACG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation