Incidental Mutation 'R4662:Tle1'
| ID |
352920 |
| 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 |
042011-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.575)
|
| Stock # |
R4662 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
72035379-72119156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 72055335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 446
(I446L)
|
| 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
AA Change: I449L
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: I449L
| 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: I439L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: I439L
| 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: I439L
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: I439L
| 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 |
possibly damaging
Transcript: ENSMUST00000102848
AA Change: I446L
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: I446L
| 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: ENSMUST00000132550
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140154
|
| SMART Domains |
Protein: ENSMUSP00000118513
Gene: ENSMUSG00000008305
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
T |
6: 91,891,939 (GRCm39) |
Q67L |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,080,116 (GRCm39) |
Y36F |
probably benign |
Het |
| Adrb1 |
A |
G |
19: 56,711,206 (GRCm39) |
T135A |
probably damaging |
Het |
| Ark2n |
T |
A |
18: 77,762,186 (GRCm39) |
Q42L |
probably benign |
Het |
| Asxl2 |
G |
T |
12: 3,477,193 (GRCm39) |
W13L |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,710,298 (GRCm39) |
S436P |
possibly damaging |
Het |
| Calb2 |
A |
G |
8: 110,894,709 (GRCm39) |
F21L |
probably benign |
Het |
| Camk2a |
T |
C |
18: 61,074,411 (GRCm39) |
Y39H |
probably damaging |
Het |
| Cavin2 |
T |
C |
1: 51,340,510 (GRCm39) |
S396P |
probably benign |
Het |
| Cfdp1 |
A |
G |
8: 112,557,577 (GRCm39) |
F188S |
probably benign |
Het |
| Chek2 |
T |
A |
5: 111,014,908 (GRCm39) |
V459D |
probably damaging |
Het |
| Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
| Cobl |
A |
G |
11: 12,203,672 (GRCm39) |
V1003A |
probably benign |
Het |
| Ctsll3 |
A |
G |
13: 60,947,416 (GRCm39) |
F257L |
possibly damaging |
Het |
| Dnajc13 |
A |
C |
9: 104,084,957 (GRCm39) |
F819V |
probably damaging |
Het |
| Dram1 |
C |
A |
10: 88,161,246 (GRCm39) |
V208L |
probably damaging |
Het |
| Dynlt1b |
A |
G |
17: 6,699,279 (GRCm39) |
T10A |
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,727,390 (GRCm39) |
V1244E |
probably damaging |
Het |
| Ethe1 |
G |
A |
7: 24,293,405 (GRCm39) |
S17N |
probably benign |
Het |
| Foxi1 |
T |
C |
11: 34,157,578 (GRCm39) |
D149G |
probably damaging |
Het |
| Fzd9 |
T |
C |
5: 135,278,475 (GRCm39) |
E470G |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,753,072 (GRCm39) |
F56L |
probably damaging |
Het |
| Hao1 |
G |
A |
2: 134,364,947 (GRCm39) |
R227* |
probably null |
Het |
| Hyal1 |
G |
A |
9: 107,456,420 (GRCm39) |
R369H |
probably damaging |
Het |
| Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
| Kcna2 |
T |
A |
3: 107,012,733 (GRCm39) |
I438N |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,388,054 (GRCm39) |
C3331* |
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,424,623 (GRCm39) |
I656V |
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,883,162 (GRCm39) |
C439Y |
probably damaging |
Het |
| N4bp2l2 |
T |
C |
5: 150,574,160 (GRCm39) |
D85G |
probably damaging |
Het |
| Nr1h2 |
A |
G |
7: 44,199,855 (GRCm39) |
Y355H |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,868,167 (GRCm39) |
I322V |
probably benign |
Het |
| Nup153 |
A |
C |
13: 46,840,750 (GRCm39) |
L273V |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,890,422 (GRCm39) |
L7370P |
unknown |
Het |
| Or1a1 |
T |
C |
11: 74,086,542 (GRCm39) |
I71T |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,980,222 (GRCm39) |
I43F |
probably damaging |
Het |
| Or5k15 |
A |
G |
16: 58,710,287 (GRCm39) |
C99R |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,551,916 (GRCm39) |
D2041N |
probably damaging |
Het |
| Ptdss1 |
A |
G |
13: 67,081,675 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ptprs |
G |
T |
17: 56,724,666 (GRCm39) |
T1118K |
probably damaging |
Het |
| Pygb |
C |
T |
2: 150,657,036 (GRCm39) |
T329I |
probably benign |
Het |
| Rhoh |
T |
A |
5: 66,050,157 (GRCm39) |
D142E |
probably benign |
Het |
| Saraf |
C |
A |
8: 34,635,616 (GRCm39) |
A306E |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,181,332 (GRCm39) |
I64V |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,320,582 (GRCm39) |
W1333R |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,289 (GRCm39) |
T651S |
possibly damaging |
Het |
| Skint3 |
C |
A |
4: 112,134,863 (GRCm39) |
Y345* |
probably null |
Het |
| Slc1a7 |
T |
A |
4: 107,864,751 (GRCm39) |
N263K |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,789,267 (GRCm39) |
R1236C |
probably damaging |
Het |
| Tbx21 |
T |
C |
11: 96,992,393 (GRCm39) |
N226S |
probably benign |
Het |
| Thada |
A |
G |
17: 84,743,078 (GRCm39) |
L782P |
probably damaging |
Het |
| Trgv1 |
T |
A |
13: 19,524,503 (GRCm39) |
L76I |
possibly damaging |
Het |
| Triobp |
A |
G |
15: 78,877,469 (GRCm39) |
D1621G |
probably damaging |
Het |
| Trpm2 |
G |
C |
10: 77,773,972 (GRCm39) |
A481G |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,685,595 (GRCm39) |
M2240L |
probably benign |
Het |
| Usp9x |
A |
G |
X: 12,989,747 (GRCm39) |
R776G |
possibly damaging |
Homo |
| Vangl1 |
T |
C |
3: 102,074,238 (GRCm39) |
T290A |
probably benign |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,393 (GRCm39) |
I186F |
probably benign |
Het |
| Vmn2r102 |
G |
A |
17: 19,901,424 (GRCm39) |
C517Y |
probably damaging |
Het |
| Vrk2 |
G |
A |
11: 26,421,611 (GRCm39) |
T449M |
possibly damaging |
Het |
| Zfp518a |
A |
G |
19: 40,900,304 (GRCm39) |
S78G |
probably benign |
Het |
| Zscan25 |
T |
C |
5: 145,223,120 (GRCm39) |
S131P |
unknown |
Het |
| Zscan29 |
G |
A |
2: 120,997,096 (GRCm39) |
T140I |
probably benign |
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 |
|
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'- TGCAAAAGCATCTCCAGCTC -3'
(R):5'- CCACTGAACATTGCTTAGGGG -3'
Sequencing Primer
(F):5'- TCAGGAGCTCACACTCATGGAG -3'
(R):5'- CTGAACATTGCTTAGGGGATATATG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation