Incidental Mutation 'R8333:Tle2'
| ID |
644481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle2
|
| Ensembl Gene |
ENSMUSG00000034771 |
| Gene Name |
transducin-like enhancer of split 2 |
| Synonyms |
Grg2 |
| MMRRC Submission |
067861-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R8333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81410395-81426679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81413518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 119
(T119I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131794]
[ENSMUST00000135211]
[ENSMUST00000136341]
[ENSMUST00000143285]
[ENSMUST00000146358]
[ENSMUST00000146916]
|
| AlphaFold |
Q9WVB2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131794
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135211
AA Change: T96I
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: T96I
| 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 |
possibly damaging
Transcript: ENSMUST00000136341
AA Change: T96I
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121585
Gene: ENSMUSG00000034771
AA Change: T96I
| 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 |
probably damaging
Transcript: ENSMUST00000146358
AA Change: T119I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: T119I
| 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: T96I
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771
AA Change: T96I
| 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: ENSMUST00000145878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151470
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
T |
C |
15: 97,143,166 (GRCm39) |
T419A |
probably damaging |
Het |
| Baiap2l1 |
A |
C |
5: 144,217,691 (GRCm39) |
I298M |
possibly damaging |
Het |
| BC005624 |
G |
T |
2: 30,863,748 (GRCm39) |
A245D |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,615 (GRCm39) |
H786R |
possibly damaging |
Het |
| Cerkl |
A |
G |
2: 79,168,922 (GRCm39) |
V427A |
possibly damaging |
Het |
| Cfap43 |
G |
T |
19: 47,885,765 (GRCm39) |
C283* |
probably null |
Het |
| Chfr |
G |
A |
5: 110,302,803 (GRCm39) |
A455T |
probably benign |
Het |
| Cldn13 |
T |
A |
5: 134,943,850 (GRCm39) |
I112F |
possibly damaging |
Het |
| Cyb5rl |
T |
A |
4: 106,925,875 (GRCm39) |
V19E |
probably benign |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,828,295 (GRCm39) |
C568S |
probably benign |
Het |
| Ecm2 |
T |
C |
13: 49,671,859 (GRCm39) |
L120P |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,812,416 (GRCm39) |
S251P |
probably damaging |
Het |
| Gpr182 |
T |
C |
10: 127,585,790 (GRCm39) |
N387S |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,291,595 (GRCm39) |
V834A |
possibly damaging |
Het |
| Igkv8-34 |
T |
C |
6: 70,021,337 (GRCm39) |
S42G |
probably benign |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,527,587 (GRCm39) |
D208V |
probably benign |
Het |
| Lrrc9 |
C |
T |
12: 72,528,317 (GRCm39) |
T872I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,279,245 (GRCm39) |
|
probably null |
Het |
| Mrpl13 |
A |
G |
15: 55,420,679 (GRCm39) |
M1T |
probably null |
Het |
| Ncapg |
C |
T |
5: 45,831,805 (GRCm39) |
T217I |
probably damaging |
Het |
| Nim1k |
G |
A |
13: 120,174,022 (GRCm39) |
P291S |
probably damaging |
Het |
| Or8c11 |
G |
A |
9: 38,289,912 (GRCm39) |
G239D |
probably damaging |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,415 (GRCm39) |
Y35* |
probably null |
Het |
| Padi6 |
T |
C |
4: 140,464,687 (GRCm39) |
M181V |
probably damaging |
Het |
| Pax7 |
T |
A |
4: 139,557,514 (GRCm39) |
I86F |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,054,680 (GRCm39) |
Y271N |
probably benign |
Het |
| Rabgap1 |
C |
T |
2: 37,385,710 (GRCm39) |
P492L |
probably benign |
Het |
| Rhno1 |
G |
T |
6: 128,334,728 (GRCm39) |
D198E |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,514,191 (GRCm39) |
I292L |
probably benign |
Het |
| Slc40a1 |
T |
C |
1: 45,950,439 (GRCm39) |
S338G |
probably damaging |
Het |
| Slc45a3 |
A |
G |
1: 131,905,928 (GRCm39) |
Y317C |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,532,270 (GRCm39) |
S2842R |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,553,938 (GRCm39) |
V30922I |
possibly damaging |
Het |
| Usp33 |
C |
T |
3: 152,080,297 (GRCm39) |
P476L |
probably damaging |
Het |
| Wdr38 |
T |
C |
2: 38,889,361 (GRCm39) |
Y51H |
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 |
|
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 |
|
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'- ACAGACTTGCAGGACTCCCTAG -3'
(R):5'- TCAAAGGAGAATGGCACCGT -3'
Sequencing Primer
(F):5'- GAAGTGACTGTCCCTTCCAGTG -3'
(R):5'- ATGGCACCGTGGGAAGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation