Incidental Mutation 'R8074:Tle1'
| ID |
620396 |
| 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 |
067508-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.575)
|
| Stock # |
R8074 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
72035379-72119156 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GAA to GA
at 72057216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118513
(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 |
probably null
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,829,320 (GRCm39) |
I1380L |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,184,420 (GRCm39) |
V32A |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,780,577 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
G |
A |
9: 42,882,399 (GRCm39) |
R1482* |
probably null |
Het |
| Cd300lg |
T |
G |
11: 101,932,427 (GRCm39) |
L4R |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,426,822 (GRCm39) |
K1072M |
possibly damaging |
Het |
| Clasp1 |
G |
T |
1: 118,390,213 (GRCm39) |
M132I |
probably benign |
Het |
| Clec18a |
T |
G |
8: 111,798,230 (GRCm39) |
D489A |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,978,801 (GRCm39) |
S551P |
|
Het |
| Efna4 |
G |
A |
3: 89,242,633 (GRCm39) |
T87M |
probably benign |
Het |
| Fam229b |
T |
C |
10: 38,996,255 (GRCm39) |
R42G |
probably null |
Het |
| Gm17175 |
C |
T |
14: 51,809,080 (GRCm39) |
M95I |
probably damaging |
Het |
| Grk4 |
A |
G |
5: 34,833,482 (GRCm39) |
E96G |
probably benign |
Het |
| Helb |
A |
C |
10: 119,925,321 (GRCm39) |
F1019V |
probably benign |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,440 (GRCm39) |
V301A |
possibly damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,582 (GRCm39) |
F342L |
probably benign |
Het |
| Idua |
C |
A |
5: 108,828,441 (GRCm39) |
A265E |
possibly damaging |
Het |
| Jup |
T |
G |
11: 100,277,113 (GRCm39) |
T32P |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,715 (GRCm39) |
K1632E |
probably benign |
Het |
| Lef1 |
G |
A |
3: 130,997,954 (GRCm39) |
|
probably null |
Het |
| Lypla2 |
A |
G |
4: 135,697,112 (GRCm39) |
|
probably null |
Het |
| Mall |
A |
G |
2: 127,571,785 (GRCm39) |
M1T |
probably null |
Het |
| Mettl25 |
G |
T |
10: 105,661,941 (GRCm39) |
A343E |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,267,324 (GRCm39) |
N940S |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,908,631 (GRCm39) |
V643D |
possibly damaging |
Het |
| Nupr1 |
A |
T |
7: 126,224,109 (GRCm39) |
F70Y |
possibly damaging |
Het |
| Or1e17 |
T |
A |
11: 73,831,213 (GRCm39) |
V47D |
possibly damaging |
Het |
| Or52b4i |
A |
G |
7: 102,191,830 (GRCm39) |
H229R |
probably benign |
Het |
| Or52e8 |
A |
T |
7: 104,624,934 (GRCm39) |
I90N |
probably damaging |
Het |
| Or5ac20 |
A |
G |
16: 59,104,549 (GRCm39) |
F104L |
probably benign |
Het |
| Or8g32 |
A |
T |
9: 39,305,242 (GRCm39) |
I49F |
probably damaging |
Het |
| Or8k3 |
C |
G |
2: 86,058,473 (GRCm39) |
V281L |
possibly damaging |
Het |
| Pabpc4 |
A |
T |
4: 123,180,508 (GRCm39) |
M77L |
probably benign |
Het |
| Phactr3 |
A |
G |
2: 177,944,589 (GRCm39) |
E429G |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,549,523 (GRCm39) |
D915G |
probably damaging |
Het |
| Pramel14 |
A |
T |
4: 143,718,424 (GRCm39) |
F340I |
probably benign |
Het |
| Prkcg |
T |
A |
7: 3,372,037 (GRCm39) |
M501K |
probably damaging |
Het |
| Prkch |
G |
A |
12: 73,747,041 (GRCm39) |
A307T |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,769,581 (GRCm39) |
V428A |
possibly damaging |
Het |
| Rnf145 |
C |
A |
11: 44,448,263 (GRCm39) |
D373E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,680,257 (GRCm39) |
Q299K |
probably benign |
Het |
| Septin2 |
A |
G |
1: 93,433,283 (GRCm39) |
D315G |
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,125,435 (GRCm39) |
Y408* |
probably null |
Het |
| Siglecf |
A |
T |
7: 43,001,214 (GRCm39) |
N61Y |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,824,531 (GRCm39) |
I1334K |
probably damaging |
Het |
| Slc38a6 |
A |
T |
12: 73,391,658 (GRCm39) |
T307S |
possibly damaging |
Het |
| Spag9 |
T |
A |
11: 94,002,877 (GRCm39) |
F1129Y |
probably damaging |
Het |
| Sra1 |
G |
A |
18: 36,808,064 (GRCm39) |
A388V |
possibly damaging |
Het |
| Srpk1 |
T |
G |
17: 28,840,990 (GRCm39) |
K12T |
probably damaging |
Het |
| Stam2 |
A |
T |
2: 52,596,438 (GRCm39) |
I333K |
probably damaging |
Het |
| Tmem121b |
T |
C |
6: 120,469,869 (GRCm39) |
K283E |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,868,850 (GRCm39) |
E473G |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,922,955 (GRCm39) |
S2513T |
probably benign |
Het |
| Ttc16 |
A |
T |
2: 32,664,135 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,799,578 (GRCm39) |
C621Y |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,417,475 (GRCm39) |
M171K |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,312,904 (GRCm39) |
V658D |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,455,064 (GRCm39) |
|
probably benign |
Het |
| Vwa3a |
A |
T |
7: 120,398,321 (GRCm39) |
I941L |
probably benign |
Het |
| Zbtb24 |
A |
G |
10: 41,327,228 (GRCm39) |
D38G |
probably damaging |
Het |
| Zfp628 |
T |
C |
7: 4,923,205 (GRCm39) |
C476R |
probably damaging |
Het |
| Zfp831 |
A |
C |
2: 174,486,528 (GRCm39) |
N401T |
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 |
|
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 |
|
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'- GGGATAGCAATCATGATCCCC -3'
(R):5'- ACTCTAGCCCATGAGGTCACTC -3'
Sequencing Primer
(F):5'- GATAGCAATCATGATCCCCAATCTAG -3'
(R):5'- TGATCTTCCTCATTGGACAAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation