Incidental Mutation 'R9452:Tle1'
| ID |
714317 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.575)
|
| Stock # |
R9452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
72035379-72119156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72040596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 654
(H654Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072481
(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: H664Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: H664Q
| 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: H654Q
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: H654Q
| 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: H654Q
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: H654Q
| 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: H661Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: H661Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,612,382 (GRCm39) |
Y564C |
probably null |
Het |
| Ablim2 |
A |
T |
5: 36,015,198 (GRCm39) |
D470V |
probably benign |
Het |
| Actr10 |
T |
C |
12: 71,006,818 (GRCm39) |
|
probably null |
Het |
| Adam4 |
T |
A |
12: 81,467,071 (GRCm39) |
I517L |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,622,429 (GRCm39) |
D1659E |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,706,726 (GRCm39) |
V184A |
probably damaging |
Het |
| Bag1 |
A |
T |
4: 40,947,733 (GRCm39) |
I157N |
probably benign |
Het |
| Bicc1 |
A |
T |
10: 70,792,981 (GRCm39) |
D224E |
probably damaging |
Het |
| C2 |
T |
G |
17: 35,095,319 (GRCm39) |
I209L |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,289,720 (GRCm39) |
|
probably null |
Het |
| Capn1 |
T |
C |
19: 6,057,287 (GRCm39) |
Y387C |
probably damaging |
Het |
| Cebpa |
A |
G |
7: 34,819,033 (GRCm39) |
I64V |
possibly damaging |
Het |
| Celf4 |
T |
G |
18: 25,624,219 (GRCm39) |
M436L |
probably benign |
Het |
| Cfb |
C |
A |
17: 35,078,084 (GRCm39) |
V436L |
probably benign |
Het |
| Ciart |
C |
T |
3: 95,788,527 (GRCm39) |
C104Y |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,394 (GRCm39) |
L898P |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,687,833 (GRCm39) |
M388K |
possibly damaging |
Het |
| Cypt12 |
T |
C |
3: 18,002,843 (GRCm39) |
V72A |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,941,541 (GRCm39) |
D309G |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,018,448 (GRCm39) |
V1394A |
probably benign |
Het |
| Dpp3 |
A |
C |
19: 4,973,750 (GRCm39) |
S108A |
probably benign |
Het |
| Eif5b |
C |
T |
1: 38,084,861 (GRCm39) |
P903S |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,733,690 (GRCm39) |
D580G |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,852,901 (GRCm39) |
V44A |
probably benign |
Het |
| Fer |
A |
G |
17: 64,231,067 (GRCm39) |
K273E |
probably benign |
Het |
| Gzme |
T |
A |
14: 56,355,854 (GRCm39) |
I153F |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,744,462 (GRCm39) |
N2040K |
probably damaging |
Het |
| Ifi214 |
G |
T |
1: 173,356,894 (GRCm39) |
Q70K |
possibly damaging |
Het |
| Itpripl1 |
C |
A |
2: 126,983,334 (GRCm39) |
E263* |
probably null |
Het |
| Kat8 |
A |
G |
7: 127,524,421 (GRCm39) |
K433R |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lefty1 |
A |
T |
1: 180,762,849 (GRCm39) |
T59S |
probably benign |
Het |
| Lig3 |
C |
T |
11: 82,681,448 (GRCm39) |
T481M |
probably damaging |
Het |
| Lrfn1 |
A |
T |
7: 28,159,157 (GRCm39) |
I359F |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,850,726 (GRCm39) |
C90* |
probably null |
Het |
| Micall2 |
T |
G |
5: 139,703,311 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
G |
T |
11: 4,441,037 (GRCm39) |
L539I |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,924,962 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
T |
C |
3: 103,643,575 (GRCm39) |
T269A |
probably benign |
Het |
| Oprl1 |
C |
T |
2: 181,360,454 (GRCm39) |
A170V |
possibly damaging |
Het |
| Or4c112 |
C |
T |
2: 88,854,234 (GRCm39) |
G38R |
|
Het |
| Pdgfrb |
G |
A |
18: 61,198,798 (GRCm39) |
V319M |
possibly damaging |
Het |
| Pirb |
G |
A |
7: 3,720,617 (GRCm39) |
R294C |
possibly damaging |
Het |
| Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,614,841 (GRCm39) |
F228L |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,682,953 (GRCm39) |
D83V |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,734,992 (GRCm39) |
D111G |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,702 (GRCm39) |
S162P |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,256,151 (GRCm39) |
I1174K |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,485,465 (GRCm39) |
Y431N |
possibly damaging |
Het |
| Pter |
A |
G |
2: 12,985,111 (GRCm39) |
D147G |
probably benign |
Het |
| Rbsn |
T |
C |
6: 92,178,745 (GRCm39) |
D134G |
possibly damaging |
Het |
| Rnf220 |
T |
C |
4: 117,153,339 (GRCm39) |
D299G |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,595,163 (GRCm39) |
S2004N |
probably benign |
Het |
| Slc7a4 |
T |
A |
16: 17,391,271 (GRCm39) |
N593I |
probably damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,400,808 (GRCm39) |
H506R |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,399,152 (GRCm39) |
S2200P |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,669,610 (GRCm39) |
N1377K |
probably benign |
Het |
| Ttll6 |
G |
A |
11: 96,026,588 (GRCm39) |
R124H |
probably damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,778,132 (GRCm39) |
C516R |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,288 (GRCm39) |
S213P |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,697,257 (GRCm39) |
L771F |
possibly damaging |
Het |
| Washc4 |
A |
G |
10: 83,396,387 (GRCm39) |
N399S |
probably benign |
Het |
| Wdr37 |
G |
A |
13: 8,897,663 (GRCm39) |
H198Y |
|
Het |
| Zfp407 |
A |
G |
18: 84,580,579 (GRCm39) |
L178P |
probably benign |
Het |
| Zfp882 |
C |
T |
8: 72,668,831 (GRCm39) |
H553Y |
probably damaging |
Het |
| Zfp956 |
T |
C |
6: 47,940,370 (GRCm39) |
V243A |
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 |
|
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 |
|
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'- GACTCACAGGATTCTTTGTAACC -3'
(R):5'- TTTACCTTGAGCTCTGGCAGG -3'
Sequencing Primer
(F):5'- GTAACCATCCCCTGTGTGTGTG -3'
(R):5'- TACCTTGAGCTCTGGCAGGAAATC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation