Incidental Mutation 'R9171:Tle1'
| ID |
696390 |
| 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 |
068976-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.575)
|
| Stock # |
R9171 (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 72043232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 536
(C536S)
|
| 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: C546S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: C546S
| 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 |
possibly damaging
Transcript: ENSMUST00000072695
AA Change: C536S
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: C536S
| 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: C536S
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: C536S
| 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: C543S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: C543S
| 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 |
|
| Meta Mutation Damage Score |
0.7035 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
T |
A |
15: 41,732,512 (GRCm39) |
T185S |
possibly damaging |
Het |
| Acad10 |
T |
A |
5: 121,767,981 (GRCm39) |
H823L |
probably benign |
Het |
| Acly |
A |
G |
11: 100,407,657 (GRCm39) |
V231A |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,849,381 (GRCm39) |
N1026S |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ankrd65 |
A |
G |
4: 155,875,800 (GRCm39) |
E7G |
probably benign |
Het |
| Ap1g2 |
T |
C |
14: 55,336,581 (GRCm39) |
H771R |
probably benign |
Het |
| Atp9a |
A |
G |
2: 168,485,780 (GRCm39) |
|
probably null |
Het |
| Atxn10 |
T |
G |
15: 85,277,557 (GRCm39) |
H341Q |
probably damaging |
Het |
| Cacng1 |
A |
G |
11: 107,607,060 (GRCm39) |
L53P |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,161,810 (GRCm39) |
N2014S |
probably benign |
Het |
| Cma1 |
T |
C |
14: 56,181,189 (GRCm39) |
N72S |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,807,953 (GRCm39) |
G2551D |
unknown |
Het |
| Cyp20a1 |
T |
G |
1: 60,415,343 (GRCm39) |
L323R |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,894,918 (GRCm39) |
V3643E |
probably damaging |
Het |
| Dnmt3l |
A |
C |
10: 77,895,518 (GRCm39) |
D352A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,589,670 (GRCm39) |
N462K |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,513,794 (GRCm39) |
Q450R |
probably benign |
Het |
| Drgx |
C |
T |
14: 32,330,339 (GRCm39) |
S152F |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,800,708 (GRCm39) |
T2977A |
probably benign |
Het |
| Eid3 |
C |
T |
10: 82,703,316 (GRCm39) |
T259M |
probably damaging |
Het |
| Eif2ak3 |
T |
G |
6: 70,835,419 (GRCm39) |
D115E |
probably damaging |
Het |
| Ezh2 |
A |
C |
6: 47,531,134 (GRCm39) |
D183E |
probably benign |
Het |
| Fam114a1 |
A |
C |
5: 65,191,713 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
G |
A |
13: 98,891,607 (GRCm39) |
T385I |
probably benign |
Het |
| Gm6882 |
C |
A |
7: 21,161,254 (GRCm39) |
E205* |
probably null |
Het |
| Hexim2 |
G |
A |
11: 103,029,822 (GRCm39) |
W291* |
probably null |
Het |
| Hnrnpab |
A |
C |
11: 51,492,710 (GRCm39) |
S265R |
unknown |
Het |
| Hsd17b1 |
A |
G |
11: 100,969,832 (GRCm39) |
N115D |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,641 (GRCm39) |
D593G |
possibly damaging |
Het |
| Inf2 |
C |
A |
12: 112,567,965 (GRCm39) |
C172* |
probably null |
Het |
| Invs |
A |
T |
4: 48,398,149 (GRCm39) |
N445I |
possibly damaging |
Het |
| Izumo2 |
A |
G |
7: 44,369,184 (GRCm39) |
Q186R |
probably benign |
Het |
| Kcnj15 |
T |
C |
16: 95,097,481 (GRCm39) |
F368L |
probably benign |
Het |
| Kctd20 |
A |
G |
17: 29,185,866 (GRCm39) |
D403G |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,486,309 (GRCm39) |
V4748G |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,393,140 (GRCm39) |
S762P |
probably benign |
Het |
| Man2c1 |
C |
T |
9: 57,044,317 (GRCm39) |
Q324* |
probably null |
Het |
| Mgam |
A |
G |
6: 40,745,146 (GRCm39) |
I1804M |
possibly damaging |
Het |
| Mmp28 |
A |
G |
11: 83,335,661 (GRCm39) |
V279A |
probably benign |
Het |
| Mrpl22 |
T |
C |
11: 58,070,185 (GRCm39) |
V164A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,952,329 (GRCm39) |
H3913Q |
possibly damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,329 (GRCm39) |
T8A |
probably benign |
Het |
| Or8g50 |
C |
T |
9: 39,648,516 (GRCm39) |
T135I |
probably benign |
Het |
| Paqr6 |
A |
G |
3: 88,273,066 (GRCm39) |
T46A |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,178,550 (GRCm39) |
D1789G |
probably benign |
Het |
| Pou4f2 |
T |
C |
8: 79,162,748 (GRCm39) |
T96A |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,801,725 (GRCm39) |
V497E |
probably benign |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Rsph4a |
C |
T |
10: 33,785,438 (GRCm39) |
Q450* |
probably null |
Het |
| Sh3d19 |
C |
T |
3: 85,990,918 (GRCm39) |
|
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,547,687 (GRCm39) |
T259A |
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,680,672 (GRCm39) |
T404A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,141,844 (GRCm39) |
C50S |
possibly damaging |
Het |
| Stx8 |
A |
C |
11: 67,875,471 (GRCm39) |
N99H |
possibly damaging |
Het |
| Tgfbi |
A |
T |
13: 56,773,526 (GRCm39) |
M175L |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Tprn |
A |
G |
2: 25,152,799 (GRCm39) |
S34G |
probably benign |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,124 (GRCm39) |
D78V |
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 |
|
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 |
|
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'- ATGAGAAGCAGACCTTGGAGTC -3'
(R):5'- GCCTGTACAGTTGCAAATCAGG -3'
Sequencing Primer
(F):5'- AGACCTTGGAGTCGGGGC -3'
(R):5'- CAGTTGCAAATCAGGAATTCAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation