Incidental Mutation 'R1174:Tle4'
| ID |
99865 |
| 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 |
039247-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1174 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
14425514-14575415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14445626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 207
(V207I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052011]
[ENSMUST00000167776]
|
| AlphaFold |
Q62441 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052011
AA Change: V207I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: V207I
| 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 benign
Transcript: ENSMUST00000167776
AA Change: V207I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: V207I
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
T |
A |
16: 16,935,446 (GRCm39) |
H214L |
probably benign |
Het |
| Actn3 |
A |
G |
19: 4,914,784 (GRCm39) |
L477P |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,071,843 (GRCm39) |
V129A |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,373,837 (GRCm39) |
F81S |
probably damaging |
Het |
| Alpk1 |
T |
A |
3: 127,474,459 (GRCm39) |
S515C |
probably damaging |
Het |
| Aoc1l3 |
C |
A |
6: 48,967,173 (GRCm39) |
P707H |
probably damaging |
Het |
| Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
| Borcs5 |
T |
A |
6: 134,687,096 (GRCm39) |
N150K |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Cox4i1 |
C |
A |
8: 121,400,789 (GRCm39) |
N151K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,870,472 (GRCm39) |
L432P |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,689,423 (GRCm39) |
D281E |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,027,699 (GRCm39) |
I815N |
probably damaging |
Het |
| Ghrhr |
T |
A |
6: 55,365,254 (GRCm39) |
L416* |
probably null |
Het |
| Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
| Gm1818 |
A |
G |
12: 48,602,982 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
A |
G |
3: 62,511,888 (GRCm39) |
L37P |
probably damaging |
Het |
| Hdac1-ps |
A |
T |
17: 78,799,507 (GRCm39) |
Y166F |
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,202,693 (GRCm39) |
I131T |
probably damaging |
Het |
| Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
| Klf6 |
A |
G |
13: 5,911,711 (GRCm39) |
D25G |
probably benign |
Het |
| Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
| Lypd6b |
C |
T |
2: 49,833,609 (GRCm39) |
A83V |
possibly damaging |
Het |
| Map3k19 |
A |
G |
1: 127,751,617 (GRCm39) |
V578A |
probably benign |
Het |
| Mfsd13a |
T |
A |
19: 46,363,125 (GRCm39) |
I511N |
probably benign |
Het |
| Mrm3 |
T |
C |
11: 76,140,850 (GRCm39) |
V286A |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
| Neurl4 |
T |
C |
11: 69,794,547 (GRCm39) |
|
probably null |
Het |
| Pclo |
T |
C |
5: 14,727,660 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
G |
T |
9: 105,540,373 (GRCm39) |
G754C |
probably damaging |
Het |
| Qtrt1 |
A |
G |
9: 21,323,782 (GRCm39) |
T136A |
probably benign |
Het |
| Rgs12 |
T |
A |
5: 35,123,809 (GRCm39) |
C531S |
probably benign |
Het |
| Rin1 |
C |
A |
19: 5,105,231 (GRCm39) |
Q764K |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,324,348 (GRCm39) |
R959W |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
| Serpinb9d |
C |
T |
13: 33,384,608 (GRCm39) |
P195L |
probably benign |
Het |
| Sos1 |
A |
C |
17: 80,753,037 (GRCm39) |
Y323* |
probably null |
Het |
| Spmip4 |
T |
A |
6: 50,566,121 (GRCm39) |
K118M |
probably damaging |
Het |
| Ssxb8 |
T |
G |
X: 8,556,062 (GRCm39) |
H88P |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,031,834 (GRCm39) |
E308G |
probably benign |
Het |
| Tdo2 |
A |
T |
3: 81,881,683 (GRCm39) |
S40R |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,504 (GRCm39) |
N445S |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
| Vangl2 |
G |
T |
1: 171,832,353 (GRCm39) |
T501N |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,720 (GRCm39) |
I131N |
probably benign |
Het |
| Vwa1 |
C |
T |
4: 155,857,723 (GRCm39) |
G25D |
probably damaging |
Het |
| Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation