Incidental Mutation 'R6914:Tle2'
| ID |
539237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle2
|
| Ensembl Gene |
ENSMUSG00000034771 |
| Gene Name |
transducin-like enhancer of split 2 |
| Synonyms |
Grg2 |
| MMRRC Submission |
045035-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R6914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81410395-81426679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81422190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 411
(Y411H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072020]
[ENSMUST00000135211]
[ENSMUST00000142948]
[ENSMUST00000146358]
[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 |
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 |
probably benign
Transcript: ENSMUST00000131411
|
| SMART Domains |
Protein: ENSMUSP00000114400
Gene: ENSMUSG00000034771
| 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: Y377H
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: Y377H
| 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 |
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 damaging
Transcript: ENSMUST00000146358
AA Change: Y411H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: Y411H
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
A |
12: 17,061,298 (GRCm39) |
K17* |
probably null |
Het |
| Abca6 |
T |
C |
11: 110,081,064 (GRCm39) |
I1183V |
probably benign |
Het |
| Adap2 |
A |
G |
11: 80,045,891 (GRCm39) |
D57G |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,452 (GRCm39) |
V371F |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,604,013 (GRCm39) |
A1273E |
probably benign |
Het |
| Cblb |
G |
A |
16: 51,867,793 (GRCm39) |
E134K |
probably damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,809,929 (GRCm39) |
V193A |
probably benign |
Het |
| Cnot9 |
T |
A |
1: 74,558,154 (GRCm39) |
V100E |
probably damaging |
Het |
| Cog2 |
T |
A |
8: 125,271,875 (GRCm39) |
V463D |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,004,854 (GRCm39) |
Q405L |
unknown |
Het |
| Crybg3 |
C |
T |
16: 59,360,183 (GRCm39) |
R2500H |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,874,534 (GRCm39) |
R687S |
possibly damaging |
Het |
| Derl3 |
A |
G |
10: 75,730,050 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
A |
C |
18: 84,748,549 (GRCm39) |
Y49S |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,405,364 (GRCm39) |
K142E |
probably benign |
Het |
| Dnai1 |
T |
G |
4: 41,625,176 (GRCm39) |
M380R |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,550,977 (GRCm39) |
|
probably null |
Het |
| Gpt |
C |
A |
15: 76,581,792 (GRCm39) |
Q138K |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,757,903 (GRCm39) |
E748V |
probably damaging |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Hecw1 |
A |
C |
13: 14,491,423 (GRCm39) |
L523R |
probably damaging |
Het |
| Hhatl |
G |
A |
9: 121,617,246 (GRCm39) |
A329V |
probably benign |
Het |
| Homer3 |
C |
T |
8: 70,744,201 (GRCm39) |
T276I |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,027,550 (GRCm39) |
S204N |
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
| Mccc2 |
C |
A |
13: 100,126,858 (GRCm39) |
D137Y |
probably damaging |
Het |
| Nup42 |
T |
A |
5: 24,386,082 (GRCm39) |
S205T |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,223,352 (GRCm39) |
M301L |
probably benign |
Het |
| Pfas |
C |
T |
11: 68,883,007 (GRCm39) |
R759Q |
probably benign |
Het |
| Pom121 |
A |
T |
5: 135,407,011 (GRCm39) |
F1175I |
probably damaging |
Het |
| Prom2 |
T |
G |
2: 127,372,295 (GRCm39) |
I723L |
possibly damaging |
Het |
| Pth1r |
C |
T |
9: 110,557,084 (GRCm39) |
|
probably null |
Het |
| Samd8 |
T |
C |
14: 21,825,221 (GRCm39) |
I59T |
possibly damaging |
Het |
| Scgb2b18 |
A |
G |
7: 32,871,564 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sema6c |
G |
T |
3: 95,080,519 (GRCm39) |
V906L |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,085,516 (GRCm39) |
T694A |
probably damaging |
Het |
| Slc26a2 |
A |
C |
18: 61,332,351 (GRCm39) |
I360S |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,715,549 (GRCm39) |
L828P |
probably damaging |
Het |
| Spry1 |
T |
A |
3: 37,697,193 (GRCm39) |
D145E |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,487,131 (GRCm39) |
N213Y |
probably damaging |
Het |
| Tbx20 |
T |
C |
9: 24,636,779 (GRCm39) |
H436R |
probably benign |
Het |
| Tmem45a |
T |
C |
16: 56,646,145 (GRCm39) |
N25S |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,812,879 (GRCm39) |
N1485S |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,720,853 (GRCm39) |
I230N |
possibly damaging |
Het |
| Vezt |
A |
T |
10: 93,806,313 (GRCm39) |
H699Q |
probably benign |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,319 (GRCm39) |
I56F |
probably benign |
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 |
|
R5790:Tle2
|
UTSW |
10 |
81,426,149 (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 |
|
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'- TTCATCAGCTGAAGGCAGGG -3'
(R):5'- TTAAGTAACCTCCTGGGCCAG -3'
Sequencing Primer
(F):5'- CAGGGAAAGTGTGGTTTGGGTATC -3'
(R):5'- ACCACATGCCTGGTTTATATGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation