Incidental Mutation 'IGL01636:Tle4'
| ID |
92982 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tle4
|
| Ensembl Gene |
ENSMUSG00000024642 |
| Gene Name |
transducin-like enhancer of split 4 |
| Synonyms |
Bce1, Grg4, ESTM14, ESTM13, 5730411M05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01636
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
14425514-14575415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14429897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 625
(I625V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052011]
[ENSMUST00000167776]
|
| AlphaFold |
Q62441 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052011
AA Change: I625V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: I625V
| 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: I625V
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: I625V
| 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
| Adgrd1 |
G |
T |
5: 129,219,516 (GRCm39) |
|
probably benign |
Het |
| Bmp7 |
T |
C |
2: 172,717,001 (GRCm39) |
|
probably benign |
Het |
| Ccdc54 |
A |
G |
16: 50,410,277 (GRCm39) |
*330Q |
probably null |
Het |
| Chd5 |
A |
T |
4: 152,469,110 (GRCm39) |
K1812* |
probably null |
Het |
| Cnga3 |
T |
A |
1: 37,299,874 (GRCm39) |
I236N |
possibly damaging |
Het |
| Ddost |
T |
G |
4: 138,036,707 (GRCm39) |
D135E |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,688,500 (GRCm39) |
D359G |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,931,882 (GRCm39) |
S3697A |
probably benign |
Het |
| Dnttip2 |
G |
A |
3: 122,076,123 (GRCm39) |
G685D |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,254,650 (GRCm39) |
S4552R |
probably damaging |
Het |
| Ebf2 |
G |
A |
14: 67,476,927 (GRCm39) |
E157K |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,039,584 (GRCm39) |
V839M |
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,729,620 (GRCm39) |
T639K |
probably damaging |
Het |
| Esyt2 |
T |
C |
12: 116,329,550 (GRCm39) |
|
probably null |
Het |
| Etv6 |
T |
C |
6: 134,225,350 (GRCm39) |
S194P |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,741,637 (GRCm39) |
H198R |
probably benign |
Het |
| Fam210b |
T |
C |
2: 172,193,460 (GRCm39) |
F91S |
probably damaging |
Het |
| Fam81a |
G |
A |
9: 70,006,434 (GRCm39) |
Q193* |
probably null |
Het |
| Fto |
A |
G |
8: 92,135,969 (GRCm39) |
D79G |
probably damaging |
Het |
| Haspin |
C |
T |
11: 73,028,231 (GRCm39) |
R286H |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,455,984 (GRCm39) |
C5312Y |
probably damaging |
Het |
| Ik |
T |
A |
18: 36,884,254 (GRCm39) |
D245E |
possibly damaging |
Het |
| Itga1 |
A |
G |
13: 115,143,484 (GRCm39) |
V349A |
possibly damaging |
Het |
| Kdm8 |
T |
C |
7: 125,060,377 (GRCm39) |
V400A |
probably damaging |
Het |
| Larp1b |
G |
T |
3: 40,924,913 (GRCm39) |
R177L |
probably benign |
Het |
| Lifr |
T |
G |
15: 7,208,499 (GRCm39) |
|
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,864,959 (GRCm39) |
L8P |
possibly damaging |
Het |
| Marcksl1 |
T |
A |
4: 129,408,587 (GRCm39) |
D55E |
probably benign |
Het |
| Med12 |
C |
A |
X: 100,318,795 (GRCm39) |
S74R |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,564,838 (GRCm39) |
K231E |
probably benign |
Het |
| Or52s1 |
C |
A |
7: 102,861,384 (GRCm39) |
R95S |
probably benign |
Het |
| Or6c35 |
A |
T |
10: 129,168,752 (GRCm39) |
M1L |
probably damaging |
Het |
| Or7e170 |
A |
G |
9: 19,795,484 (GRCm39) |
V39A |
probably benign |
Het |
| Or8k39 |
G |
A |
2: 86,563,945 (GRCm39) |
Q4* |
probably null |
Het |
| Orc3 |
A |
C |
4: 34,595,096 (GRCm39) |
L233R |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,738,772 (GRCm39) |
M715T |
possibly damaging |
Het |
| Prss43 |
T |
A |
9: 110,656,505 (GRCm39) |
L64Q |
possibly damaging |
Het |
| Pyroxd2 |
C |
A |
19: 42,726,771 (GRCm39) |
G209V |
probably benign |
Het |
| Rab3b |
A |
G |
4: 108,797,916 (GRCm39) |
D198G |
possibly damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,789,815 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,825,929 (GRCm39) |
|
probably null |
Het |
| Ssrp1 |
T |
C |
2: 84,871,443 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
C |
A |
6: 29,931,192 (GRCm39) |
T381K |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,116,622 (GRCm39) |
L876Q |
possibly damaging |
Het |
| Tnfrsf23 |
T |
C |
7: 143,233,736 (GRCm39) |
T81A |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,612,542 (GRCm39) |
K1272E |
probably benign |
Het |
| Usp3 |
A |
G |
9: 66,469,834 (GRCm39) |
|
probably null |
Het |
| Vmn1r121 |
C |
T |
7: 20,832,282 (GRCm39) |
V53M |
probably benign |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,720 (GRCm39) |
S171R |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,657 (GRCm39) |
D441E |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,801,618 (GRCm39) |
H2353Q |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,435,794 (GRCm39) |
S1835P |
possibly 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 |
|
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 |
|
R5611:Tle4
|
UTSW |
19 |
14,427,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation