Incidental Mutation 'PIT4515001:Tle1'
ID |
556296 |
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 # |
PIT4515001 (G1)
|
Quality Score |
91.0077 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
72035379-72119156 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72117556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 35
(F35I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030095]
[ENSMUST00000072695]
[ENSMUST00000074216]
[ENSMUST00000102848]
[ENSMUST00000107337]
[ENSMUST00000137075]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030095
AA Change: F35I
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000030095 Gene: ENSMUSG00000008305 AA Change: F35I
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: F35I
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000072481 Gene: ENSMUSG00000008305 AA Change: F35I
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
AA Change: F35I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000073839 Gene: ENSMUSG00000008305 AA Change: F35I
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
AA Change: F43I
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000099912 Gene: ENSMUSG00000008305 AA Change: F43I
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 |
possibly damaging
Transcript: ENSMUST00000107337
AA Change: F35I
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102960 Gene: ENSMUSG00000008305 AA Change: F35I
Domain | Start | End | E-Value | Type |
Pfam:TLE_N
|
1 |
136 |
7.2e-80 |
PFAM |
low complexity region
|
145 |
173 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122923
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137075
AA Change: F57I
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118683 Gene: ENSMUSG00000008305 AA Change: F57I
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
Pfam:TLE_N
|
22 |
158 |
4.2e-77 |
PFAM |
low complexity region
|
167 |
195 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132550
|
Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 86.0%
- 20x: 75.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,068 (GRCm39) |
R966* |
probably null |
Het |
Adam32 |
A |
T |
8: 25,404,342 (GRCm39) |
I221K |
possibly damaging |
Het |
Adcy6 |
T |
C |
15: 98,493,027 (GRCm39) |
T880A |
probably benign |
Het |
Agpat5 |
T |
A |
8: 18,896,657 (GRCm39) |
Y28N |
probably damaging |
Het |
Atg2a |
A |
G |
19: 6,303,615 (GRCm39) |
I1125V |
probably damaging |
Het |
B4galt6 |
A |
G |
18: 20,821,524 (GRCm39) |
Y335H |
probably benign |
Het |
Bend3 |
A |
T |
10: 43,386,630 (GRCm39) |
E341V |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,028,385 (GRCm39) |
Y2351N |
probably damaging |
Het |
Ccdc136 |
T |
A |
6: 29,417,225 (GRCm39) |
V682E |
probably benign |
Het |
Ccdc142 |
T |
C |
6: 83,080,238 (GRCm39) |
C394R |
probably benign |
Het |
Cfap58 |
A |
G |
19: 48,023,122 (GRCm39) |
N845D |
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,660,024 (GRCm39) |
G890R |
unknown |
Het |
Cyp1a2 |
C |
A |
9: 57,589,242 (GRCm39) |
V191L |
probably benign |
Het |
Cyp51 |
A |
T |
5: 4,149,122 (GRCm39) |
|
probably null |
Het |
Diras2 |
T |
C |
13: 52,661,783 (GRCm39) |
S175G |
possibly damaging |
Het |
Dnah6 |
A |
G |
6: 73,091,565 (GRCm39) |
F2242S |
probably damaging |
Het |
Erg |
T |
A |
16: 95,210,619 (GRCm39) |
N78Y |
probably benign |
Het |
Fdft1 |
T |
A |
14: 63,402,032 (GRCm39) |
Q49L |
probably benign |
Het |
Frem1 |
G |
T |
4: 82,818,663 (GRCm39) |
H2183Q |
probably damaging |
Het |
Fut2 |
G |
A |
7: 45,299,890 (GRCm39) |
T294I |
probably damaging |
Het |
Gabrb1 |
A |
C |
5: 71,858,160 (GRCm39) |
D62A |
probably damaging |
Het |
Gbe1 |
T |
A |
16: 70,238,004 (GRCm39) |
Y263* |
probably null |
Het |
Gimap6 |
T |
C |
6: 48,679,502 (GRCm39) |
D178G |
probably benign |
Het |
Gss |
T |
A |
2: 155,420,261 (GRCm39) |
T147S |
probably damaging |
Het |
Hlcs |
A |
T |
16: 94,068,275 (GRCm39) |
V315E |
probably benign |
Het |
Hoxa3 |
C |
T |
6: 52,147,164 (GRCm39) |
G363E |
unknown |
Het |
Ift140 |
A |
G |
17: 25,305,834 (GRCm39) |
N807S |
probably damaging |
Het |
Iglc1 |
T |
G |
16: 18,880,701 (GRCm39) |
D40A |
|
Het |
Itga10 |
T |
A |
3: 96,569,948 (GRCm39) |
I1120N |
probably damaging |
Het |
Jak3 |
T |
C |
8: 72,132,286 (GRCm39) |
V217A |
probably benign |
Het |
Kank2 |
T |
G |
9: 21,706,179 (GRCm39) |
I280L |
probably benign |
Het |
Kcnk1 |
G |
T |
8: 126,752,081 (GRCm39) |
G229V |
probably damaging |
Het |
Kpna7 |
T |
C |
5: 144,941,862 (GRCm39) |
T143A |
probably benign |
Het |
Letmd1 |
C |
T |
15: 100,374,683 (GRCm39) |
R310C |
probably damaging |
Het |
Mga |
G |
A |
2: 119,746,985 (GRCm39) |
V379I |
probably damaging |
Het |
Mto1 |
T |
A |
9: 78,364,699 (GRCm39) |
Y313N |
probably damaging |
Het |
Muc5ac |
G |
A |
7: 141,361,153 (GRCm39) |
C1488Y |
probably damaging |
Het |
Nde1 |
T |
A |
16: 13,988,357 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
T |
C |
8: 106,805,835 (GRCm39) |
S235P |
possibly damaging |
Het |
Nup88 |
T |
C |
11: 70,835,547 (GRCm39) |
D602G |
probably benign |
Het |
Or11g25 |
T |
A |
14: 50,723,536 (GRCm39) |
M207K |
probably benign |
Het |
Or2h1b |
A |
C |
17: 37,462,270 (GRCm39) |
S198A |
probably benign |
Het |
Pcnx1 |
G |
A |
12: 82,038,561 (GRCm39) |
C1309Y |
|
Het |
Phldb1 |
A |
G |
9: 44,627,257 (GRCm39) |
I396T |
probably benign |
Het |
Pramel38 |
T |
C |
5: 94,368,831 (GRCm39) |
M442T |
probably benign |
Het |
Pramel41 |
A |
C |
5: 94,594,694 (GRCm39) |
K185Q |
probably benign |
Het |
Prss53 |
G |
A |
7: 127,487,963 (GRCm39) |
T173I |
probably benign |
Het |
Ptpn11 |
C |
A |
5: 121,302,617 (GRCm39) |
D156Y |
probably damaging |
Het |
Rfx8 |
A |
G |
1: 39,729,265 (GRCm39) |
Y167H |
probably benign |
Het |
Rpsa |
T |
A |
9: 119,960,214 (GRCm39) |
I259N |
probably benign |
Het |
Rrm2b |
G |
T |
15: 37,947,048 (GRCm39) |
D84E |
probably benign |
Het |
Scgb2b19 |
A |
T |
7: 32,979,036 (GRCm39) |
|
probably null |
Het |
Sik3 |
T |
C |
9: 46,120,029 (GRCm39) |
L706P |
probably damaging |
Het |
Slc4a4 |
A |
T |
5: 89,281,112 (GRCm39) |
E426D |
probably damaging |
Het |
Slc8a2 |
C |
A |
7: 15,874,504 (GRCm39) |
L251I |
possibly damaging |
Het |
Taf6 |
T |
C |
5: 138,180,504 (GRCm39) |
K287E |
probably benign |
Het |
Tiam1 |
G |
A |
16: 89,657,130 (GRCm39) |
T702I |
probably damaging |
Het |
Tle2 |
A |
G |
10: 81,422,964 (GRCm39) |
Q454R |
possibly damaging |
Het |
Tsc2 |
T |
C |
17: 24,840,121 (GRCm39) |
N425S |
probably benign |
Het |
Utp3 |
A |
G |
5: 88,702,564 (GRCm39) |
D31G |
probably benign |
Het |
Vmn1r173 |
A |
T |
7: 23,401,911 (GRCm39) |
R49* |
probably null |
Het |
Ybx2 |
T |
A |
11: 69,831,224 (GRCm39) |
V273E |
probably benign |
Het |
Zbtb22 |
G |
A |
17: 34,137,672 (GRCm39) |
A606T |
probably benign |
Het |
Zcchc8 |
A |
T |
5: 123,838,995 (GRCm39) |
D514E |
probably benign |
Het |
Zfy2 |
T |
A |
Y: 2,117,096 (GRCm39) |
I244F |
probably benign |
Het |
Zglp1 |
T |
C |
9: 20,977,485 (GRCm39) |
N110S |
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 |
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 |
|
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'- CGTGAATGACAGGGCTTAACG -3'
(R):5'- CCTCTCTAAAGTGAACCGAGG -3'
Sequencing Primer
(F):5'- TGACAGGGCTTAACGGTGACTC -3'
(R):5'- AACCGAGGGTTCTAGTTTGGGC -3'
|
Posted On |
2019-06-07 |