Incidental Mutation 'R5505:Tle2'
| ID |
430889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle2
|
| Ensembl Gene |
ENSMUSG00000034771 |
| Gene Name |
transducin-like enhancer of split 2 |
| Synonyms |
Grg2 |
| MMRRC Submission |
043066-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R5505 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81410395-81426679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81417574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 223
(D223E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135211]
[ENSMUST00000136341]
[ENSMUST00000143285]
[ENSMUST00000146358]
[ENSMUST00000146916]
|
| AlphaFold |
Q9WVB2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135211
AA Change: D212E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: D212E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121585
Gene: ENSMUSG00000034771
| 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: ENSMUST00000143285
|
| SMART Domains |
Protein: ENSMUSP00000122074
Gene: ENSMUSG00000034771
| 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: ENSMUST00000145878
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146358
AA Change: D246E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: D246E
| 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
AA Change: D223E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771
AA Change: D223E
| 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: ENSMUST00000151470
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
A |
5: 24,606,036 (GRCm39) |
D240E |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,728,309 (GRCm39) |
E480K |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,248 (GRCm39) |
E372G |
probably damaging |
Het |
| Atp23 |
G |
T |
10: 126,723,499 (GRCm39) |
A201D |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,046,699 (GRCm39) |
D73G |
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,706,655 (GRCm39) |
S325P |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,860,410 (GRCm39) |
Y140H |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,767,688 (GRCm39) |
D124E |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,335,048 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,803,745 (GRCm39) |
S34P |
probably benign |
Het |
| Enah |
T |
A |
1: 181,734,018 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
C |
G |
2: 22,514,845 (GRCm39) |
L108V |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,724 (GRCm39) |
I133V |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,187 (GRCm39) |
T13A |
probably benign |
Het |
| Ighv1-4 |
A |
G |
12: 114,451,057 (GRCm39) |
V17A |
possibly damaging |
Het |
| Ints8 |
T |
A |
4: 11,221,143 (GRCm39) |
Q744L |
probably benign |
Het |
| Lrit3 |
C |
T |
3: 129,585,087 (GRCm39) |
V224I |
possibly damaging |
Het |
| Mgat4a |
T |
C |
1: 37,535,035 (GRCm39) |
I108V |
probably benign |
Het |
| Mmp9 |
T |
C |
2: 164,795,528 (GRCm39) |
I682T |
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,474,592 (GRCm39) |
A1742T |
probably benign |
Het |
| Nlrp12 |
C |
T |
7: 3,298,015 (GRCm39) |
G52D |
probably damaging |
Het |
| Or5t9 |
T |
C |
2: 86,659,845 (GRCm39) |
F250L |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,996,927 (GRCm39) |
L941P |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,075,256 (GRCm39) |
R45G |
probably benign |
Het |
| Plcz1 |
C |
G |
6: 139,961,942 (GRCm39) |
G203A |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,406,001 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm15 |
T |
A |
16: 97,618,183 (GRCm39) |
H325L |
possibly damaging |
Het |
| Ralyl |
A |
T |
3: 13,841,980 (GRCm39) |
I39F |
probably damaging |
Het |
| Rnf220 |
A |
C |
4: 117,153,288 (GRCm39) |
|
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,409,102 (GRCm39) |
K318E |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,836,259 (GRCm39) |
N432K |
probably damaging |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,072 (GRCm39) |
Y176N |
probably damaging |
Het |
| Slc25a30 |
G |
A |
14: 76,000,789 (GRCm39) |
L272F |
probably damaging |
Het |
| Spag1 |
T |
C |
15: 36,234,772 (GRCm39) |
V844A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,995,857 (GRCm39) |
|
probably benign |
Het |
| Tmem192 |
A |
G |
8: 65,416,898 (GRCm39) |
E39G |
possibly damaging |
Het |
| Trpc6 |
T |
A |
9: 8,626,736 (GRCm39) |
L362H |
probably damaging |
Het |
| Tuba4a |
A |
G |
1: 75,193,060 (GRCm39) |
Y185H |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,268,405 (GRCm39) |
V941A |
probably benign |
Het |
| Vmn2r35 |
A |
T |
7: 7,789,479 (GRCm39) |
Y753N |
probably damaging |
Het |
| Zfp941 |
C |
T |
7: 140,391,830 (GRCm39) |
V510I |
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 |
|
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 |
|
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'- TCTATTAGCTGACAGAGGCAGAG -3'
(R):5'- GGCTGGTAGGACAAAGTGTC -3'
Sequencing Primer
(F):5'- GTAGAGCCCTGCCTAGAATCCTAG -3'
(R):5'- CTTTTGATTAGCAGGCACTCCACAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation