Incidental Mutation 'T0970:Tle2'
ID |
67263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tle2
|
Ensembl Gene |
ENSMUSG00000034771 |
Gene Name |
transducin-like enhancer of split 2 |
Synonyms |
Grg2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.429)
|
Stock # |
T0970 (G3)
of strain
713
|
Quality Score |
89 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81410395-81426679 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81416119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 108
(D108G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131794]
[ENSMUST00000135211]
[ENSMUST00000136341]
[ENSMUST00000146358]
[ENSMUST00000146916]
[ENSMUST00000143285]
|
AlphaFold |
Q9WVB2 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129798
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131794
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135211
AA Change: D108G
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000117453 Gene: ENSMUSG00000034771 AA Change: D108G
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 |
probably benign
Transcript: ENSMUST00000136341
AA Change: D108G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000121585 Gene: ENSMUSG00000034771 AA Change: D108G
Domain | Start | End | E-Value | Type |
Pfam:TLE_N
|
1 |
121 |
1.3e-73 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140433
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146358
AA Change: D131G
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000121125 Gene: ENSMUSG00000034771 AA Change: D131G
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 |
possibly damaging
Transcript: ENSMUST00000146916
AA Change: D108G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000121173 Gene: ENSMUSG00000034771 AA Change: D108G
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 |
probably benign
Transcript: ENSMUST00000143285
AA Change: D88G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000122074 Gene: ENSMUSG00000034771 AA Change: D88G
Domain | Start | End | E-Value | Type |
Pfam:TLE_N
|
1 |
78 |
1.5e-49 |
PFAM |
Pfam:TLE_N
|
76 |
114 |
1.3e-11 |
PFAM |
low complexity region
|
124 |
151 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162771
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145878
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.3%
- 20x: 94.7%
|
Validation Efficiency |
100% (25/25) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
A |
T |
10: 88,817,052 (GRCm39) |
L591* |
probably null |
Het |
Aqp4 |
A |
G |
18: 15,532,940 (GRCm39) |
L51P |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,632,354 (GRCm39) |
C403S |
probably damaging |
Het |
Cfap74 |
G |
T |
4: 155,547,574 (GRCm39) |
|
probably null |
Het |
Glis3 |
G |
A |
19: 28,508,332 (GRCm39) |
R551W |
probably damaging |
Het |
Gm11232 |
T |
A |
4: 71,674,740 (GRCm39) |
Y254F |
possibly damaging |
Het |
Map3k14 |
G |
T |
11: 103,115,124 (GRCm39) |
C837* |
probably null |
Het |
Mrc2 |
A |
C |
11: 105,238,453 (GRCm39) |
E1200A |
probably benign |
Het |
Nfix |
T |
C |
8: 85,453,112 (GRCm39) |
N314S |
possibly damaging |
Het |
Nphp4 |
T |
C |
4: 152,640,836 (GRCm39) |
S1068P |
probably damaging |
Het |
Nup98 |
A |
C |
7: 101,835,959 (GRCm39) |
|
probably benign |
Het |
Or13p8 |
A |
G |
4: 118,583,464 (GRCm39) |
R7G |
probably benign |
Het |
Pcdhac2 |
T |
C |
18: 37,278,388 (GRCm39) |
V456A |
possibly damaging |
Het |
Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
Prss38 |
A |
G |
11: 59,263,974 (GRCm39) |
V246A |
possibly damaging |
Het |
Rnf26 |
C |
G |
9: 44,023,369 (GRCm39) |
R172P |
probably damaging |
Het |
Septin4 |
A |
T |
11: 87,458,558 (GRCm39) |
T311S |
probably damaging |
Het |
Serinc3 |
TATCATC |
TATC |
2: 163,469,835 (GRCm39) |
|
probably benign |
Het |
Spire1 |
C |
A |
18: 67,634,133 (GRCm39) |
|
probably null |
Het |
Tex2 |
T |
A |
11: 106,437,772 (GRCm39) |
I633F |
unknown |
Het |
Txnrd2 |
T |
C |
16: 18,260,523 (GRCm39) |
V185A |
probably damaging |
Het |
Unc45b |
C |
A |
11: 82,813,714 (GRCm39) |
H374N |
probably benign |
Het |
Wtap |
T |
C |
17: 13,188,277 (GRCm39) |
|
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 |
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 |
Z1177:Tle2
|
UTSW |
10 |
81,418,280 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCCTGCAAAGCATGACCTG -3'
(R):5'- CTGGAGCTGATTCTGCTGCTGAATG -3'
Sequencing Primer
(F):5'- gggaaaagtgaggggtgg -3'
(R):5'- CTGCTGCTGAATGGGGAGAG -3'
|
Posted On |
2013-09-03 |