Incidental Mutation 'R5790:Tle2'
| ID |
448287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle2
|
| Ensembl Gene |
ENSMUSG00000034771 |
| Gene Name |
transducin-like enhancer of split 2 |
| Synonyms |
Grg2 |
| MMRRC Submission |
043384-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R5790 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81410395-81426679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81426149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 763
(Y763H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072020]
[ENSMUST00000135211]
[ENSMUST00000146358]
[ENSMUST00000142948]
[ENSMUST00000146916]
|
| AlphaFold |
Q9WVB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072020
|
| SMART Domains |
Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
283 |
320 |
9.6e-2 |
SMART |
|
Blast:WD40
|
334 |
372 |
2e-12 |
BLAST |
|
WD40
|
377 |
415 |
6.16e0 |
SMART |
|
WD40
|
418 |
455 |
7.43e-1 |
SMART |
|
Blast:WD40
|
460 |
496 |
4e-13 |
BLAST |
|
WD40
|
499 |
538 |
1.43e0 |
SMART |
|
WD40
|
541 |
578 |
2.97e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124854
|
| SMART Domains |
Protein: ENSMUSP00000118334
Gene: ENSMUSG00000034771
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
6 |
44 |
9e-20 |
BLAST |
|
WD40
|
46 |
85 |
1.2e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129282
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129798
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131411
AA Change: Y114H
|
| SMART Domains |
Protein: ENSMUSP00000114400
Gene: ENSMUSG00000034771
AA Change: Y114H
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
36 |
75 |
1.2e-2 |
SMART |
|
WD40
|
76 |
116 |
2.07e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135211
AA Change: Y728H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: Y728H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
122 |
3e-68 |
PFAM |
|
low complexity region
|
133 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
352 |
N/A |
INTRINSIC |
|
WD40
|
436 |
473 |
5.6e-3 |
SMART |
|
WD40
|
479 |
520 |
9.6e-2 |
SMART |
|
WD40
|
525 |
564 |
1.88e-4 |
SMART |
|
WD40
|
567 |
606 |
3.72e-8 |
SMART |
|
Blast:WD40
|
609 |
647 |
8e-18 |
BLAST |
|
WD40
|
649 |
688 |
1.2e-2 |
SMART |
|
WD40
|
689 |
729 |
2.07e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139135
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146358
AA Change: Y763H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: Y763H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
64 |
2e-31 |
PFAM |
|
Pfam:TLE_N
|
81 |
154 |
4.3e-34 |
PFAM |
|
low complexity region
|
167 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
386 |
N/A |
INTRINSIC |
|
WD40
|
471 |
508 |
5.6e-3 |
SMART |
|
WD40
|
514 |
555 |
9.6e-2 |
SMART |
|
WD40
|
560 |
599 |
1.88e-4 |
SMART |
|
WD40
|
602 |
641 |
3.72e-8 |
SMART |
|
Blast:WD40
|
644 |
682 |
9e-18 |
BLAST |
|
WD40
|
684 |
723 |
1.2e-2 |
SMART |
|
WD40
|
724 |
764 |
2.07e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142948
|
| SMART Domains |
Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
273 |
310 |
9.6e-2 |
SMART |
|
Blast:WD40
|
324 |
362 |
2e-12 |
BLAST |
|
WD40
|
367 |
405 |
6.16e0 |
SMART |
|
WD40
|
408 |
445 |
7.43e-1 |
SMART |
|
Blast:WD40
|
450 |
486 |
4e-13 |
BLAST |
|
WD40
|
489 |
528 |
1.43e0 |
SMART |
|
WD40
|
531 |
568 |
2.97e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146916
|
| SMART Domains |
Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
134 |
1.6e-75 |
PFAM |
|
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
363 |
N/A |
INTRINSIC |
|
WD40
|
435 |
472 |
5.6e-3 |
SMART |
|
WD40
|
478 |
519 |
9.6e-2 |
SMART |
|
WD40
|
524 |
563 |
1.88e-4 |
SMART |
|
WD40
|
566 |
605 |
3.72e-8 |
SMART |
|
WD40
|
648 |
687 |
1.2e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153379
|
| Meta Mutation Damage Score |
0.7528 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
T |
5: 31,051,702 (GRCm39) |
R633* |
probably null |
Het |
| Ahnak |
T |
C |
19: 8,992,612 (GRCm39) |
V4632A |
probably damaging |
Het |
| Asap1 |
T |
A |
15: 63,966,114 (GRCm39) |
D997V |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,989,990 (GRCm39) |
Y162C |
probably damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,736,270 (GRCm39) |
S936R |
probably damaging |
Het |
| Bcl11a |
T |
A |
11: 24,113,650 (GRCm39) |
L331Q |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,792,968 (GRCm39) |
F358I |
probably damaging |
Het |
| Capn15 |
C |
T |
17: 26,183,521 (GRCm39) |
S386N |
probably benign |
Het |
| Ccdc66 |
G |
A |
14: 27,222,404 (GRCm39) |
T113I |
possibly damaging |
Het |
| Cd200 |
G |
T |
16: 45,217,621 (GRCm39) |
H23Q |
possibly damaging |
Het |
| Cdh17 |
A |
G |
4: 11,814,945 (GRCm39) |
|
probably null |
Het |
| Ces2b |
C |
T |
8: 105,560,568 (GRCm39) |
P128S |
probably damaging |
Het |
| Ces3b |
A |
T |
8: 105,819,270 (GRCm39) |
Q442L |
probably damaging |
Het |
| Chil4 |
T |
C |
3: 106,109,894 (GRCm39) |
H373R |
probably benign |
Het |
| Ciapin1 |
C |
A |
8: 95,551,811 (GRCm39) |
|
probably benign |
Het |
| Cnot10 |
A |
C |
9: 114,454,985 (GRCm39) |
|
probably null |
Het |
| Cpq |
A |
G |
15: 33,250,143 (GRCm39) |
K167E |
probably damaging |
Het |
| Dennd4b |
T |
A |
3: 90,184,757 (GRCm39) |
D1118E |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,093,978 (GRCm39) |
C4691S |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,311,898 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,304,981 (GRCm39) |
R341H |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,482,887 (GRCm39) |
T2145K |
probably benign |
Het |
| Eif3b |
T |
C |
5: 140,427,886 (GRCm39) |
V736A |
probably benign |
Het |
| Eno1 |
G |
T |
4: 150,329,710 (GRCm39) |
V195L |
probably benign |
Het |
| Ewsr1 |
C |
T |
11: 5,032,263 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,209,768 (GRCm39) |
T1038A |
probably benign |
Het |
| Gabrb1 |
T |
C |
5: 72,293,827 (GRCm39) |
I367T |
possibly damaging |
Het |
| Gigyf1 |
C |
T |
5: 137,522,517 (GRCm39) |
|
probably benign |
Het |
| Glp2r |
T |
A |
11: 67,655,625 (GRCm39) |
Y39F |
probably damaging |
Het |
| Gm10036 |
T |
A |
18: 15,966,243 (GRCm39) |
Y131* |
probably null |
Het |
| Gm38706 |
T |
C |
6: 130,461,961 (GRCm39) |
|
noncoding transcript |
Het |
| Gna15 |
G |
A |
10: 81,345,218 (GRCm39) |
R216C |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,792,717 (GRCm39) |
F339L |
probably damaging |
Het |
| Grk3 |
T |
G |
5: 113,114,842 (GRCm39) |
K126T |
possibly damaging |
Het |
| Hspa1l |
T |
C |
17: 35,196,216 (GRCm39) |
V85A |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,666,862 (GRCm39) |
L525* |
probably null |
Het |
| Irx3 |
T |
C |
8: 92,526,304 (GRCm39) |
T467A |
probably benign |
Het |
| Itga2 |
G |
A |
13: 115,004,742 (GRCm39) |
T530I |
probably benign |
Het |
| Lonp2 |
T |
C |
8: 87,358,118 (GRCm39) |
V113A |
probably benign |
Het |
| Msx3 |
C |
T |
7: 139,628,866 (GRCm39) |
R16H |
possibly damaging |
Het |
| Nek3 |
C |
A |
8: 22,621,313 (GRCm39) |
Q405H |
probably damaging |
Het |
| Nek3 |
T |
A |
8: 22,621,314 (GRCm39) |
Q403L |
probably damaging |
Het |
| Or2b6 |
T |
C |
13: 21,823,046 (GRCm39) |
T216A |
probably benign |
Het |
| Or6c66 |
A |
G |
10: 129,461,757 (GRCm39) |
Y58H |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,190,184 (GRCm39) |
N367S |
probably benign |
Het |
| Padi6 |
C |
A |
4: 140,459,569 (GRCm39) |
G429C |
probably damaging |
Het |
| Pidd1 |
T |
C |
7: 141,021,305 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,198,392 (GRCm39) |
V847A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,527,190 (GRCm39) |
D56G |
probably damaging |
Het |
| Pomt2 |
T |
G |
12: 87,174,152 (GRCm39) |
N347T |
probably damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,134,363 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,544,296 (GRCm39) |
D184V |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,544,441 (GRCm39) |
T1431S |
probably damaging |
Het |
| Saal1 |
T |
C |
7: 46,351,352 (GRCm39) |
D208G |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,835,507 (GRCm39) |
I952V |
probably benign |
Het |
| Slc30a1 |
T |
A |
1: 191,640,997 (GRCm39) |
D214E |
probably benign |
Het |
| Slc30a8 |
T |
C |
15: 52,197,043 (GRCm39) |
V318A |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,654,124 (GRCm39) |
T770A |
probably damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,065,853 (GRCm39) |
H2031L |
probably damaging |
Het |
| Ssbp1 |
A |
G |
6: 40,457,804 (GRCm39) |
S141G |
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,890,808 (GRCm39) |
E45G |
probably damaging |
Het |
| Thra |
T |
A |
11: 98,653,777 (GRCm39) |
S203T |
probably benign |
Het |
| Tmem141 |
T |
A |
2: 25,511,087 (GRCm39) |
I102L |
probably benign |
Het |
| Tmem63c |
C |
T |
12: 87,104,410 (GRCm39) |
T77I |
probably benign |
Het |
| Tspo2 |
C |
A |
17: 48,756,047 (GRCm39) |
|
probably null |
Het |
| Ttc19 |
T |
A |
11: 62,172,340 (GRCm39) |
M1K |
probably null |
Het |
| Ucp1 |
A |
G |
8: 84,024,520 (GRCm39) |
N282D |
possibly damaging |
Het |
| Vmn1r33 |
A |
T |
6: 66,589,198 (GRCm39) |
F119I |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,792,499 (GRCm39) |
M609L |
probably benign |
Het |
| Vwc2l |
A |
T |
1: 70,790,142 (GRCm39) |
H146L |
probably damaging |
Het |
|
| Other mutations in Tle2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00691:Tle2
|
APN |
10 |
81,417,573 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02651:Tle2
|
APN |
10 |
81,422,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02809:Tle2
|
APN |
10 |
81,422,196 (GRCm39) |
splice site |
probably null |
|
|
IGL03235:Tle2
|
APN |
10 |
81,422,085 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03307:Tle2
|
APN |
10 |
81,426,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
foxbat
|
UTSW |
10 |
81,422,147 (GRCm39) |
nonsense |
probably null |
|
|
Illyushin
|
UTSW |
10 |
81,424,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011_Tle2_517
|
UTSW |
10 |
81,420,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Tle2
|
UTSW |
10 |
81,422,964 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0394:Tle2
|
UTSW |
10 |
81,413,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Tle2
|
UTSW |
10 |
81,424,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Tle2
|
UTSW |
10 |
81,422,148 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0833:Tle2
|
UTSW |
10 |
81,424,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Tle2
|
UTSW |
10 |
81,425,331 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2067:Tle2
|
UTSW |
10 |
81,416,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Tle2
|
UTSW |
10 |
81,426,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2198:Tle2
|
UTSW |
10 |
81,426,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4439:Tle2
|
UTSW |
10 |
81,417,516 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4440:Tle2
|
UTSW |
10 |
81,417,516 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4441:Tle2
|
UTSW |
10 |
81,417,516 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4513:Tle2
|
UTSW |
10 |
81,423,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Tle2
|
UTSW |
10 |
81,413,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Tle2
|
UTSW |
10 |
81,424,725 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5011:Tle2
|
UTSW |
10 |
81,420,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5505:Tle2
|
UTSW |
10 |
81,417,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5538:Tle2
|
UTSW |
10 |
81,416,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5917:Tle2
|
UTSW |
10 |
81,416,750 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6176:Tle2
|
UTSW |
10 |
81,423,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6200:Tle2
|
UTSW |
10 |
81,424,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Tle2
|
UTSW |
10 |
81,422,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:Tle2
|
UTSW |
10 |
81,416,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7600:Tle2
|
UTSW |
10 |
81,422,147 (GRCm39) |
nonsense |
probably null |
|
|
R7729:Tle2
|
UTSW |
10 |
81,422,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8333:Tle2
|
UTSW |
10 |
81,413,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8511:Tle2
|
UTSW |
10 |
81,423,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Tle2
|
UTSW |
10 |
81,417,567 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9565:Tle2
|
UTSW |
10 |
81,417,567 (GRCm39) |
missense |
probably benign |
0.11 |
|
T0970:Tle2
|
UTSW |
10 |
81,416,119 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1177:Tle2
|
UTSW |
10 |
81,418,280 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTTGTTGTCCTCCAAG -3'
(R):5'- CACTCTGAAAATTGGGGCAAAG -3'
Sequencing Primer
(F):5'- GTTGTCCTCCAAGCCCCATG -3'
(R):5'- TCACCTGTACGCTTCACACAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation