Incidental Mutation 'R6113:Tle4'
| ID |
484988 |
| 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 |
044262-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6113 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
14425514-14575415 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 14572952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052011]
[ENSMUST00000167776]
|
| AlphaFold |
Q62441 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052011
|
| SMART Domains |
Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
| 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 null
Transcript: ENSMUST00000167776
|
| SMART Domains |
Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
| 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: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
A |
16: 8,390,764 (GRCm39) |
T7N |
probably benign |
Het |
| Aldh1l2 |
G |
T |
10: 83,343,998 (GRCm39) |
C359* |
probably null |
Het |
| Atpsckmt |
T |
C |
15: 31,608,308 (GRCm39) |
Y120H |
probably damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,752,651 (GRCm39) |
E384K |
probably benign |
Het |
| Chtf18 |
G |
A |
17: 25,941,841 (GRCm39) |
R544C |
probably damaging |
Het |
| Cilp2 |
T |
C |
8: 70,335,009 (GRCm39) |
D663G |
probably benign |
Het |
| Cplx3 |
T |
A |
9: 57,509,723 (GRCm39) |
I92F |
probably damaging |
Het |
| Cr1l |
T |
C |
1: 194,813,719 (GRCm39) |
|
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,174 (GRCm39) |
F323I |
probably damaging |
Het |
| Dclk1 |
T |
C |
3: 55,397,240 (GRCm39) |
Y186H |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,453,900 (GRCm39) |
L261P |
probably damaging |
Het |
| Dcst2 |
T |
C |
3: 89,275,192 (GRCm39) |
S312P |
possibly damaging |
Het |
| Dnah17 |
A |
G |
11: 118,017,101 (GRCm39) |
L213P |
probably damaging |
Het |
| Dnd1 |
T |
A |
18: 36,898,448 (GRCm39) |
Y102F |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,158,867 (GRCm39) |
N121S |
probably benign |
Het |
| Dsp |
T |
A |
13: 38,376,023 (GRCm39) |
N1269K |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,586,848 (GRCm39) |
V943A |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,790,933 (GRCm39) |
K1322* |
probably null |
Het |
| Fgf23 |
A |
G |
6: 127,055,117 (GRCm39) |
T76A |
probably benign |
Het |
| Fgf6 |
T |
C |
6: 126,992,900 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
G |
A |
4: 62,258,884 (GRCm39) |
T124I |
probably benign |
Het |
| Gm12185 |
A |
T |
11: 48,806,167 (GRCm39) |
H341Q |
possibly damaging |
Het |
| Gm20647 |
A |
G |
5: 72,487,143 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
G |
C |
2: 69,313,901 (GRCm39) |
R2277G |
possibly damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,708,673 (GRCm39) |
T224A |
probably benign |
Het |
| Ly75 |
T |
G |
2: 60,199,217 (GRCm39) |
I175L |
probably benign |
Het |
| Morc2b |
G |
T |
17: 33,357,042 (GRCm39) |
Y243* |
probably null |
Het |
| Myo18b |
C |
G |
5: 113,014,251 (GRCm39) |
D764H |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,435,794 (GRCm39) |
S910G |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,261,422 (GRCm39) |
I21N |
possibly damaging |
Het |
| P3h2 |
A |
T |
16: 25,799,903 (GRCm39) |
I430K |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,124,544 (GRCm39) |
V542A |
probably damaging |
Het |
| Pkp3 |
T |
A |
7: 140,662,569 (GRCm39) |
N60K |
probably damaging |
Het |
| Pold1 |
C |
A |
7: 44,187,124 (GRCm39) |
G686C |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,606,673 (GRCm39) |
L58Q |
probably damaging |
Het |
| Rab13 |
C |
A |
3: 90,132,173 (GRCm39) |
R86S |
probably benign |
Het |
| Rad21l |
A |
C |
2: 151,499,398 (GRCm39) |
L265V |
probably damaging |
Het |
| Rec8 |
G |
A |
14: 55,859,935 (GRCm39) |
A228T |
probably damaging |
Het |
| Rgs12 |
C |
A |
5: 35,177,667 (GRCm39) |
R76S |
probably damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,537,141 (GRCm39) |
N670D |
possibly damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,824,175 (GRCm39) |
T464A |
possibly damaging |
Het |
| Srcap |
C |
A |
7: 127,159,453 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
T |
1: 131,283,243 (GRCm39) |
|
probably null |
Het |
| Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
| Thpo |
C |
A |
16: 20,547,597 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf14 |
T |
C |
4: 155,008,949 (GRCm39) |
Q74R |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
G |
14: 53,887,182 (GRCm39) |
V34G |
probably benign |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,313 (GRCm39) |
A82V |
probably benign |
Het |
| Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,176,844 (GRCm39) |
V408I |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,019,218 (GRCm39) |
V1068E |
probably damaging |
Het |
| Usp35 |
A |
G |
7: 96,973,533 (GRCm39) |
S230P |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,811,810 (GRCm39) |
I46V |
probably null |
Het |
| Vav1 |
T |
A |
17: 57,608,884 (GRCm39) |
D349E |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,805,655 (GRCm39) |
R114* |
probably null |
Het |
| Vmn1r25 |
T |
C |
6: 57,955,557 (GRCm39) |
E244G |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,398,820 (GRCm39) |
T720A |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,059,923 (GRCm39) |
D444E |
probably benign |
Het |
| Zfhx3 |
T |
A |
8: 109,674,053 (GRCm39) |
M1701K |
probably benign |
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 |
|
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 |
|
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'- GTCGAAGCCAAGCTGTAACC -3'
(R):5'- CAAGTCCTGGCTGGTTCTTGTC -3'
Sequencing Primer
(F):5'- GTAACCACCTAGAATTACAGGTTGC -3'
(R):5'- GATACCATTGATTTGACAATAGGAGG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation