Incidental Mutation 'R5405:Tle1'
ID |
428662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tle1
|
Ensembl Gene |
ENSMUSG00000008305 |
Gene Name |
transducin-like enhancer of split 1 |
Synonyms |
C230057C06Rik, Estm14, Grg1, Tle4l |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.575)
|
Stock # |
R5405 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
72035379-72119156 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 72057208 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 |
noncoding transcript
Transcript: ENSMUST00000132550
|
Predicted Effect |
unknown
Transcript: ENSMUST00000140154
AA Change: I131V
|
SMART Domains |
Protein: ENSMUSP00000118513 Gene: ENSMUSG00000008305 AA Change: I131V
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: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
A |
T |
6: 86,078,179 (GRCm39) |
T298S |
probably benign |
Het |
Atad2b |
G |
A |
12: 4,990,098 (GRCm39) |
R141Q |
possibly damaging |
Het |
B3glct |
A |
G |
5: 149,632,818 (GRCm39) |
Q56R |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,894,894 (GRCm39) |
Y358C |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,966,085 (GRCm39) |
E1136G |
possibly damaging |
Het |
Ceacam1 |
A |
T |
7: 25,163,290 (GRCm39) |
N314K |
probably benign |
Het |
Ces1g |
A |
T |
8: 94,032,496 (GRCm39) |
I488N |
probably benign |
Het |
Chd6 |
C |
T |
2: 160,807,310 (GRCm39) |
R1968K |
probably benign |
Het |
Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
Cyp39a1 |
C |
T |
17: 43,987,831 (GRCm39) |
A99V |
probably damaging |
Het |
Dipk1a |
C |
T |
5: 108,057,827 (GRCm39) |
V199I |
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,554,380 (GRCm39) |
S890P |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,612,018 (GRCm39) |
D620V |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,375,102 (GRCm39) |
C588* |
probably null |
Het |
Erc1 |
A |
T |
6: 119,801,905 (GRCm39) |
S37R |
probably damaging |
Het |
Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gm14443 |
T |
C |
2: 175,013,644 (GRCm39) |
I43V |
possibly damaging |
Het |
Ins2 |
C |
T |
7: 142,233,134 (GRCm39) |
R46H |
probably damaging |
Het |
Krt77 |
T |
C |
15: 101,769,523 (GRCm39) |
I413V |
probably damaging |
Het |
Lpin3 |
A |
G |
2: 160,745,849 (GRCm39) |
D660G |
probably damaging |
Het |
Mpp3 |
T |
C |
11: 101,901,047 (GRCm39) |
Q318R |
probably benign |
Het |
Mpzl2 |
T |
C |
9: 44,958,503 (GRCm39) |
S80P |
probably damaging |
Het |
Mrpl2 |
T |
C |
17: 46,960,036 (GRCm39) |
|
probably null |
Het |
Mrpl48 |
T |
C |
7: 100,209,000 (GRCm39) |
Y108C |
probably damaging |
Het |
Ndufaf7 |
C |
A |
17: 79,246,044 (GRCm39) |
F92L |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,115,383 (GRCm39) |
Y255H |
probably damaging |
Het |
Or6c8 |
T |
A |
10: 128,915,265 (GRCm39) |
D189V |
probably damaging |
Het |
Rec114 |
T |
C |
9: 58,567,624 (GRCm39) |
S121G |
probably benign |
Het |
Rnase10 |
A |
T |
14: 51,247,317 (GRCm39) |
I195F |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rreb1 |
A |
G |
13: 38,133,087 (GRCm39) |
E1754G |
probably damaging |
Het |
Sec31a |
G |
T |
5: 100,531,657 (GRCm39) |
C238* |
probably null |
Het |
Slc12a6 |
T |
C |
2: 112,169,724 (GRCm39) |
V337A |
probably damaging |
Het |
Slc25a37 |
A |
G |
14: 69,482,344 (GRCm39) |
V319A |
possibly damaging |
Het |
Slc26a10 |
T |
C |
10: 127,010,864 (GRCm39) |
Y456C |
probably benign |
Het |
Slc27a3 |
G |
A |
3: 90,294,382 (GRCm39) |
T463I |
probably benign |
Het |
Slc66a3 |
A |
G |
12: 17,043,315 (GRCm39) |
|
probably benign |
Het |
Stard9 |
T |
A |
2: 120,524,149 (GRCm39) |
D781E |
probably benign |
Het |
Tmem229b-ps |
T |
C |
10: 53,351,325 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r71 |
A |
G |
7: 85,268,622 (GRCm39) |
D275G |
probably benign |
Het |
Wdr1 |
T |
C |
5: 38,692,543 (GRCm39) |
T121A |
probably benign |
Het |
Zdhhc19 |
C |
T |
16: 32,325,869 (GRCm39) |
R240C |
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 |
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 |
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'- GCCAAACCTGACCAATGATTCTAG -3'
(R):5'- AAGTAGCAGCCTGAGTCCAG -3'
Sequencing Primer
(F):5'- CTTCAGGGGATAGCAATCATGATCC -3'
(R):5'- TCCAGGGGAATTAGGCACC -3'
|
Posted On |
2016-09-06 |