Incidental Mutation 'R6200:Tle2'
| ID |
503150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle2
|
| Ensembl Gene |
ENSMUSG00000034771 |
| Gene Name |
transducin-like enhancer of split 2 |
| Synonyms |
Grg2 |
| MMRRC Submission |
044340-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R6200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81410395-81426679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81424706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 678
(V678M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072020]
[ENSMUST00000135211]
[ENSMUST00000146358]
[ENSMUST00000146916]
[ENSMUST00000142948]
|
| 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 |
unknown
Transcript: ENSMUST00000124854
AA Change: V39M
|
| SMART Domains |
Protein: ENSMUSP00000118334
Gene: ENSMUSG00000034771
AA Change: V39M
| 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: V29M
|
| SMART Domains |
Protein: ENSMUSP00000114400
Gene: ENSMUSG00000034771
AA Change: V29M
| 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: V643M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: V643M
| 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 damaging
Transcript: ENSMUST00000146358
AA Change: V678M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: V678M
| 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 damaging
Transcript: ENSMUST00000146916
AA Change: V642M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771
AA Change: V642M
| 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: ENSMUST00000137631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151470
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000146239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153379
|
| Meta Mutation Damage Score |
0.7840 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
91% (32/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,977,834 (GRCm39) |
H2719R |
probably damaging |
Het |
| Atraid |
A |
G |
5: 31,210,210 (GRCm39) |
N127D |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,007,324 (GRCm39) |
V145A |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,939,124 (GRCm39) |
N666D |
possibly damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,682,073 (GRCm39) |
R174S |
probably damaging |
Het |
| Cldn17 |
A |
C |
16: 88,303,459 (GRCm39) |
L90R |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fancc |
A |
C |
13: 63,508,062 (GRCm39) |
L158V |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,730,927 (GRCm39) |
L60P |
probably benign |
Het |
| G6pd2 |
C |
T |
5: 61,967,214 (GRCm39) |
R330C |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,404,227 (GRCm39) |
N333I |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,062,130 (GRCm39) |
Y45H |
probably damaging |
Het |
| Icam5 |
A |
G |
9: 20,950,045 (GRCm39) |
Y868C |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
| Luzp1 |
C |
A |
4: 136,268,577 (GRCm39) |
Q267K |
probably benign |
Het |
| Nkpd1 |
C |
A |
7: 19,258,528 (GRCm39) |
A769E |
possibly damaging |
Het |
| Or5p58 |
AACTCTGTCACT |
AACT |
7: 107,694,732 (GRCm39) |
|
probably null |
Het |
| Pabpc4l |
C |
A |
3: 46,401,138 (GRCm39) |
V169L |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,135 (GRCm39) |
N381D |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,263,374 (GRCm39) |
N372Y |
possibly damaging |
Het |
| Ppp1r21 |
C |
T |
17: 88,876,613 (GRCm39) |
T475M |
possibly damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,139,776 (GRCm39) |
|
probably null |
Het |
| Psip1 |
T |
C |
4: 83,392,610 (GRCm39) |
K100E |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,053,111 (GRCm39) |
H1096R |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Slc16a8 |
C |
T |
15: 79,137,137 (GRCm39) |
G91D |
probably damaging |
Het |
| Slc22a21 |
A |
T |
11: 53,848,864 (GRCm39) |
I296N |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,696,607 (GRCm39) |
D224G |
probably benign |
Het |
| Tmc1 |
C |
T |
19: 20,766,954 (GRCm39) |
R749Q |
possibly damaging |
Het |
| Tmco3 |
T |
A |
8: 13,342,077 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
A |
G |
11: 87,652,529 (GRCm39) |
E101G |
possibly damaging |
Het |
| Zfp57 |
A |
T |
17: 37,321,303 (GRCm39) |
T386S |
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 |
|
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'- GCTGTGTTCCTCTGATGAATGC -3'
(R):5'- GGCTTTGACCTGAATAAGCAG -3'
Sequencing Primer
(F):5'- CTCTGATGAATGCTAAGGTGTGACAC -3'
(R):5'- CTTTGACCTGAATAAGCAGCTGGG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation