Incidental Mutation 'R7153:Tle1'
ID |
554244 |
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 |
045255-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.575)
|
Stock # |
R7153 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
72035379-72119156 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72057298 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 101
(F101I)
|
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 benign
Transcript: ENSMUST00000140154
AA Change: F101I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000118513 Gene: ENSMUSG00000008305 AA Change: F101I
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: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano2 |
A |
G |
6: 125,969,906 (GRCm39) |
T741A |
possibly damaging |
Het |
Aox4 |
T |
C |
1: 58,289,378 (GRCm39) |
M767T |
probably damaging |
Het |
Arhgap39 |
C |
A |
15: 76,649,691 (GRCm39) |
S27I |
probably benign |
Het |
AU018091 |
T |
A |
7: 3,209,353 (GRCm39) |
M296L |
probably benign |
Het |
Axin1 |
A |
G |
17: 26,406,942 (GRCm39) |
T512A |
probably benign |
Het |
B4galnt3 |
A |
T |
6: 120,191,929 (GRCm39) |
D602E |
probably benign |
Het |
Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
Bsnd |
A |
T |
4: 106,349,230 (GRCm39) |
D3E |
probably benign |
Het |
Btbd18 |
C |
T |
2: 84,496,772 (GRCm39) |
R137* |
probably null |
Het |
C2cd5 |
A |
G |
6: 142,965,135 (GRCm39) |
S871P |
probably benign |
Het |
Cobl |
G |
T |
11: 12,204,128 (GRCm39) |
P858Q |
probably damaging |
Het |
Col6a1 |
C |
T |
10: 76,546,175 (GRCm39) |
|
probably null |
Het |
Crb2 |
A |
T |
2: 37,677,420 (GRCm39) |
H304L |
probably benign |
Het |
Crybg1 |
T |
A |
10: 43,840,662 (GRCm39) |
Y1812F |
possibly damaging |
Het |
Ddx60 |
A |
T |
8: 62,441,142 (GRCm39) |
K1070N |
possibly damaging |
Het |
Defb22 |
T |
C |
2: 152,327,840 (GRCm39) |
K115R |
unknown |
Het |
Dhx8 |
C |
T |
11: 101,631,001 (GRCm39) |
|
probably null |
Het |
Dnah5 |
T |
A |
15: 28,365,668 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
A |
1: 46,165,964 (GRCm39) |
F543Y |
probably benign |
Het |
Ehhadh |
A |
G |
16: 21,585,071 (GRCm39) |
F270S |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,310,128 (GRCm39) |
M397V |
probably benign |
Het |
Fanca |
A |
T |
8: 124,043,164 (GRCm39) |
L74H |
probably damaging |
Het |
Fbxl17 |
C |
A |
17: 63,367,346 (GRCm39) |
V676F |
probably benign |
Het |
Fndc1 |
A |
G |
17: 8,020,477 (GRCm39) |
V102A |
probably damaging |
Het |
Gpalpp1 |
T |
C |
14: 76,332,451 (GRCm39) |
Y273C |
probably damaging |
Het |
Gpatch8 |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
11: 102,371,014 (GRCm39) |
|
probably benign |
Het |
Grik2 |
T |
C |
10: 49,411,463 (GRCm39) |
H225R |
probably benign |
Het |
Helz2 |
A |
T |
2: 180,873,078 (GRCm39) |
S2411T |
probably benign |
Het |
Hnmt |
C |
T |
2: 23,904,353 (GRCm39) |
A103T |
probably damaging |
Het |
Ighv15-2 |
G |
T |
12: 114,528,210 (GRCm39) |
Y114* |
probably null |
Het |
Irak2 |
A |
G |
6: 113,655,670 (GRCm39) |
H357R |
probably benign |
Het |
Kcp |
T |
C |
6: 29,499,014 (GRCm39) |
E320G |
probably damaging |
Het |
Kpna4 |
A |
G |
3: 68,997,131 (GRCm39) |
L352S |
probably damaging |
Het |
Krt36 |
G |
A |
11: 99,995,972 (GRCm39) |
Q151* |
probably null |
Het |
Krt77 |
G |
A |
15: 101,773,931 (GRCm39) |
T241M |
probably benign |
Het |
Lca5l |
T |
A |
16: 95,975,009 (GRCm39) |
N305I |
probably damaging |
Het |
Lefty1 |
T |
A |
1: 180,765,332 (GRCm39) |
L300Q |
probably benign |
Het |
Mertk |
A |
G |
2: 128,578,569 (GRCm39) |
Y185C |
probably damaging |
Het |
Mmp14 |
T |
C |
14: 54,673,708 (GRCm39) |
I124T |
possibly damaging |
Het |
Nlrc4 |
T |
C |
17: 74,754,098 (GRCm39) |
E95G |
possibly damaging |
Het |
Npc1 |
A |
G |
18: 12,346,348 (GRCm39) |
F283L |
possibly damaging |
Het |
Or4k38 |
A |
T |
2: 111,166,246 (GRCm39) |
M59K |
probably damaging |
Het |
Or4p19 |
A |
C |
2: 88,242,462 (GRCm39) |
L180W |
probably damaging |
Het |
Pcdha11 |
T |
C |
18: 37,144,278 (GRCm39) |
V123A |
probably damaging |
Het |
Pcdhga2 |
T |
C |
18: 37,802,261 (GRCm39) |
V35A |
probably damaging |
Het |
Pgd |
G |
T |
4: 149,246,135 (GRCm39) |
T94K |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,941,487 (GRCm39) |
N1593S |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Plcb3 |
A |
G |
19: 6,935,452 (GRCm39) |
|
probably null |
Het |
Prkd3 |
C |
T |
17: 79,273,784 (GRCm39) |
D491N |
probably benign |
Het |
Ptprf |
T |
C |
4: 118,088,740 (GRCm39) |
T688A |
probably damaging |
Het |
Pycr2 |
T |
A |
1: 180,734,247 (GRCm39) |
L210M |
probably damaging |
Het |
Rpl36 |
T |
C |
17: 56,921,137 (GRCm39) |
I81T |
probably benign |
Het |
Rraga |
C |
T |
4: 86,494,253 (GRCm39) |
A33V |
probably damaging |
Het |
Slc29a1 |
G |
A |
17: 45,896,688 (GRCm39) |
A429V |
probably damaging |
Het |
Stab1 |
T |
G |
14: 30,882,541 (GRCm39) |
E432A |
probably benign |
Het |
Synj1 |
C |
T |
16: 90,744,978 (GRCm39) |
G1189R |
probably benign |
Het |
Synpo2 |
A |
G |
3: 122,906,053 (GRCm39) |
*1088Q |
probably null |
Het |
Tbc1d21 |
T |
C |
9: 58,270,376 (GRCm39) |
D133G |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,915,009 (GRCm39) |
V2176A |
probably damaging |
Het |
Tff1 |
A |
G |
17: 31,381,772 (GRCm39) |
I35T |
probably benign |
Het |
Thnsl1 |
T |
C |
2: 21,217,764 (GRCm39) |
V506A |
possibly damaging |
Het |
Timm10b |
A |
G |
7: 105,290,087 (GRCm39) |
Q50R |
unknown |
Het |
Tjp2 |
A |
T |
19: 24,079,345 (GRCm39) |
N843K |
probably benign |
Het |
Tmem225 |
T |
C |
9: 40,059,664 (GRCm39) |
F15L |
probably benign |
Het |
Trav12-3 |
T |
C |
14: 53,859,618 (GRCm39) |
L88P |
probably benign |
Het |
Ttc7b |
A |
T |
12: 100,321,293 (GRCm39) |
W613R |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,608,848 (GRCm39) |
M17723L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,775,660 (GRCm39) |
D1840G |
unknown |
Het |
Tubgcp2 |
T |
C |
7: 139,580,949 (GRCm39) |
H668R |
probably benign |
Het |
Ush2a |
C |
A |
1: 188,460,681 (GRCm39) |
N2647K |
possibly damaging |
Het |
Vmn1r14 |
C |
T |
6: 57,210,851 (GRCm39) |
S143F |
probably benign |
Het |
Vmn2r70 |
A |
G |
7: 85,214,262 (GRCm39) |
S297P |
probably damaging |
Het |
Ywhab |
T |
C |
2: 163,855,980 (GRCm39) |
F119L |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,187,659 (GRCm39) |
D1108E |
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 |
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'- AGGTCCATTCCTCAAGGACAG -3'
(R):5'- TCTTCAGGAGTCAGGAAGTTGG -3'
Sequencing Primer
(F):5'- ATTTCCTCATTGGCAAAGCAGC -3'
(R):5'- GGAGGTTTTGCTAATACTCTAGCCC -3'
|
Posted On |
2019-05-15 |