Incidental Mutation 'R5611:Tle4'
| ID |
438057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle4
|
| Ensembl Gene |
ENSMUSG00000024642 |
| Gene Name |
transducin-like enhancer of split 4 |
| Synonyms |
Bce1, Grg4, ESTM14, ESTM13, 5730411M05Rik |
| MMRRC Submission |
043273-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5611 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
14425514-14575415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14427159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 754
(D754G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052011]
[ENSMUST00000167776]
|
| AlphaFold |
Q62441 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052011
AA Change: D754G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: D754G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
8 |
138 |
9.1e-76 |
PFAM |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
316 |
N/A |
INTRINSIC |
|
WD40
|
477 |
514 |
4.18e-2 |
SMART |
|
WD40
|
520 |
561 |
3.64e-2 |
SMART |
|
WD40
|
566 |
605 |
9.38e-5 |
SMART |
|
WD40
|
608 |
647 |
1.14e-8 |
SMART |
|
WD40
|
650 |
688 |
2.29e1 |
SMART |
|
WD40
|
690 |
729 |
7.39e-3 |
SMART |
|
WD40
|
730 |
770 |
4.14e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167776
AA Change: D754G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: D754G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
8 |
138 |
5.1e-76 |
PFAM |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
316 |
N/A |
INTRINSIC |
|
WD40
|
477 |
514 |
4.18e-2 |
SMART |
|
WD40
|
520 |
561 |
3.64e-2 |
SMART |
|
WD40
|
566 |
605 |
9.38e-5 |
SMART |
|
WD40
|
608 |
647 |
1.14e-8 |
SMART |
|
WD40
|
650 |
688 |
2.29e1 |
SMART |
|
WD40
|
690 |
729 |
7.39e-3 |
SMART |
|
WD40
|
730 |
770 |
4.14e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are runted and die around 4 weeks of age with leukocytopenia, B cell lymphopenia, reduced bone mineralization and reduced hematopoietic stem cell number and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
C |
11: 48,910,828 (GRCm39) |
T535R |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,749 (GRCm39) |
F299I |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,171,161 (GRCm39) |
M1854T |
possibly damaging |
Het |
| Adrm1b |
G |
A |
3: 92,335,758 (GRCm39) |
P315S |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,208,690 (GRCm39) |
V581A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,935,240 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
T |
C |
18: 61,640,334 (GRCm39) |
T242A |
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,534,598 (GRCm39) |
V265A |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,414,954 (GRCm39) |
R556* |
probably null |
Het |
| C2 |
A |
G |
17: 35,091,360 (GRCm39) |
I101T |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,577,575 (GRCm39) |
|
probably benign |
Het |
| Cd33 |
T |
C |
7: 43,181,542 (GRCm39) |
H206R |
probably damaging |
Het |
| Cd5l |
G |
A |
3: 87,275,082 (GRCm39) |
G207D |
possibly damaging |
Het |
| Chrd |
A |
T |
16: 20,557,724 (GRCm39) |
D774V |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
A |
T |
5: 87,825,503 (GRCm39) |
|
probably null |
Het |
| Dpyd |
G |
A |
3: 118,987,942 (GRCm39) |
V704I |
probably benign |
Het |
| Dscc1 |
C |
A |
15: 54,945,569 (GRCm39) |
Q312H |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,041,860 (GRCm39) |
T154S |
probably damaging |
Het |
| Foxi2 |
T |
C |
7: 135,013,433 (GRCm39) |
V221A |
probably benign |
Het |
| Gabbr2 |
A |
T |
4: 46,804,105 (GRCm39) |
I250N |
probably damaging |
Het |
| Gfap |
T |
A |
11: 102,787,895 (GRCm39) |
T17S |
probably benign |
Het |
| Hcrtr2 |
A |
G |
9: 76,230,596 (GRCm39) |
V64A |
probably damaging |
Het |
| Igkv4-86 |
A |
G |
6: 68,887,659 (GRCm39) |
S27P |
probably damaging |
Het |
| Kalrn |
G |
T |
16: 33,996,150 (GRCm39) |
F903L |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,745,304 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,314,219 (GRCm39) |
T656A |
probably benign |
Het |
| Mss51 |
G |
T |
14: 20,533,174 (GRCm39) |
S432R |
possibly damaging |
Het |
| Mzf1 |
A |
G |
7: 12,778,554 (GRCm39) |
|
probably benign |
Het |
| Nop58 |
T |
A |
1: 59,749,672 (GRCm39) |
|
probably benign |
Het |
| Or10al5 |
A |
T |
17: 38,062,975 (GRCm39) |
I77F |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,622,630 (GRCm39) |
E1652G |
probably damaging |
Het |
| Pikfyve |
C |
A |
1: 65,295,247 (GRCm39) |
N1459K |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,969,673 (GRCm39) |
G61D |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,203,065 (GRCm39) |
S581P |
probably benign |
Het |
| Ppm1g |
A |
G |
5: 31,363,441 (GRCm39) |
F256L |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,386,296 (GRCm39) |
N726S |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,592,448 (GRCm39) |
D480G |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,244,663 (GRCm39) |
Q772* |
probably null |
Het |
| Sh3gl2 |
T |
C |
4: 85,273,568 (GRCm39) |
V40A |
probably benign |
Het |
| Slc22a23 |
G |
A |
13: 34,489,222 (GRCm39) |
T221I |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,040,698 (GRCm39) |
T518S |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,711,173 (GRCm39) |
|
probably benign |
Het |
| St8sia4 |
T |
C |
1: 95,555,409 (GRCm39) |
D207G |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,421,725 (GRCm39) |
T609S |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,562,869 (GRCm39) |
W26949* |
probably null |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,743 (GRCm39) |
S157A |
probably damaging |
Het |
| Vmn1r51 |
T |
A |
6: 90,106,692 (GRCm39) |
L203M |
probably benign |
Het |
| Vmn1r6 |
T |
C |
6: 56,979,362 (GRCm39) |
L8P |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,904 (GRCm39) |
D232G |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,576,030 (GRCm39) |
D300E |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,654,951 (GRCm39) |
K453* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,702,936 (GRCm39) |
D672E |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,261,130 (GRCm39) |
N599S |
possibly damaging |
Het |
| Zc3h13 |
A |
T |
14: 75,568,348 (GRCm39) |
N1214Y |
probably benign |
Het |
| Zc3h18 |
T |
G |
8: 123,135,109 (GRCm39) |
|
probably null |
Het |
| Zfp51 |
A |
G |
17: 21,684,354 (GRCm39) |
E323G |
probably damaging |
Het |
|
| Other mutations in Tle4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Tle4
|
APN |
19 |
14,445,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01449:Tle4
|
APN |
19 |
14,442,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01618:Tle4
|
APN |
19 |
14,522,178 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01636:Tle4
|
APN |
19 |
14,429,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01750:Tle4
|
APN |
19 |
14,427,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Tle4
|
APN |
19 |
14,571,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Tle4
|
UTSW |
19 |
14,495,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
BB016:Tle4
|
UTSW |
19 |
14,495,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0006:Tle4
|
UTSW |
19 |
14,444,078 (GRCm39) |
splice site |
probably benign |
|
|
R1068:Tle4
|
UTSW |
19 |
14,429,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Tle4
|
UTSW |
19 |
14,445,626 (GRCm39) |
missense |
probably benign |
|
|
R1594:Tle4
|
UTSW |
19 |
14,430,970 (GRCm39) |
nonsense |
probably null |
|
|
R1671:Tle4
|
UTSW |
19 |
14,431,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Tle4
|
UTSW |
19 |
14,522,150 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1951:Tle4
|
UTSW |
19 |
14,493,721 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2068:Tle4
|
UTSW |
19 |
14,427,113 (GRCm39) |
nonsense |
probably null |
|
|
R3858:Tle4
|
UTSW |
19 |
14,445,577 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3859:Tle4
|
UTSW |
19 |
14,445,577 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3946:Tle4
|
UTSW |
19 |
14,574,752 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4357:Tle4
|
UTSW |
19 |
14,445,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4395:Tle4
|
UTSW |
19 |
14,495,302 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4491:Tle4
|
UTSW |
19 |
14,432,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Tle4
|
UTSW |
19 |
14,441,709 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4860:Tle4
|
UTSW |
19 |
14,441,709 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5336:Tle4
|
UTSW |
19 |
14,432,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5516:Tle4
|
UTSW |
19 |
14,432,253 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6032:Tle4
|
UTSW |
19 |
14,429,472 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6032:Tle4
|
UTSW |
19 |
14,429,472 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6113:Tle4
|
UTSW |
19 |
14,572,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6513:Tle4
|
UTSW |
19 |
14,429,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6995:Tle4
|
UTSW |
19 |
14,541,817 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7175:Tle4
|
UTSW |
19 |
14,429,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Tle4
|
UTSW |
19 |
14,495,155 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7929:Tle4
|
UTSW |
19 |
14,495,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8369:Tle4
|
UTSW |
19 |
14,429,876 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8396:Tle4
|
UTSW |
19 |
14,432,323 (GRCm39) |
nonsense |
probably null |
|
|
R8847:Tle4
|
UTSW |
19 |
14,493,737 (GRCm39) |
nonsense |
probably null |
|
|
R9145:Tle4
|
UTSW |
19 |
14,445,583 (GRCm39) |
missense |
probably benign |
|
|
R9279:Tle4
|
UTSW |
19 |
14,429,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9327:Tle4
|
UTSW |
19 |
14,574,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Tle4
|
UTSW |
19 |
14,495,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGATTAAACTCCACAACTGC -3'
(R):5'- GATGATGTCCTCCTGCCATG -3'
Sequencing Primer
(F):5'- CTCCACAACTGCAATGAGTATTGG -3'
(R):5'- CTCCTGCCATGTCTAGGAATG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation