Incidental Mutation 'R4395:Tle4'
| ID |
325466 |
| 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 |
041684-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4395 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
14425514-14575415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14495302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 142
(H142Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052011]
[ENSMUST00000167776]
|
| AlphaFold |
Q62441 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052011
AA Change: H142Q
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: H142Q
| 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: H142Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: H142Q
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,679 (GRCm39) |
Y283H |
probably benign |
Het |
| Adamtsl5 |
A |
G |
10: 80,180,736 (GRCm39) |
C109R |
probably damaging |
Het |
| Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,744,703 (GRCm39) |
S1266F |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,457 (GRCm39) |
L1614P |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,376,527 (GRCm39) |
R2038G |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Capza2 |
T |
C |
6: 17,656,449 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
T |
C |
19: 47,740,352 (GRCm39) |
T1274A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Cisd3 |
A |
G |
11: 97,579,212 (GRCm39) |
Y115C |
probably damaging |
Het |
| Crebl2 |
A |
G |
6: 134,826,208 (GRCm39) |
E53G |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,525,671 (GRCm39) |
S107P |
probably damaging |
Het |
| Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Grm8 |
T |
A |
6: 27,429,431 (GRCm39) |
I488F |
probably damaging |
Het |
| Hmga2 |
C |
T |
10: 120,311,956 (GRCm39) |
G5S |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
G |
T |
19: 34,589,951 (GRCm39) |
E376* |
probably null |
Het |
| Ints5 |
A |
G |
19: 8,873,808 (GRCm39) |
E589G |
probably damaging |
Het |
| Iqsec2 |
C |
T |
X: 150,992,049 (GRCm39) |
T562I |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,066,323 (GRCm39) |
Y101C |
probably benign |
Het |
| Maf1 |
T |
C |
15: 76,236,357 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,717,321 (GRCm39) |
K185N |
possibly damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,023,351 (GRCm39) |
S233P |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,013,432 (GRCm39) |
Q75L |
probably benign |
Het |
| Nod2 |
T |
A |
8: 89,391,019 (GRCm39) |
F427Y |
probably damaging |
Het |
| Or1s2 |
A |
T |
19: 13,758,275 (GRCm39) |
I100F |
probably benign |
Het |
| Or5p51 |
A |
G |
7: 107,444,469 (GRCm39) |
L157P |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,254,091 (GRCm39) |
D632G |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,468,326 (GRCm39) |
D298G |
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,676,131 (GRCm39) |
T375A |
probably benign |
Het |
| Slc4a7 |
C |
T |
14: 14,765,665 (GRCm38) |
T549I |
probably damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,657,844 (GRCm39) |
I565V |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,274 (GRCm39) |
I47T |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,915,451 (GRCm39) |
V2028I |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Trpm2 |
T |
C |
10: 77,765,053 (GRCm39) |
I983V |
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,799,783 (GRCm39) |
A553T |
possibly damaging |
Het |
| Ubxn11 |
G |
T |
4: 133,843,431 (GRCm39) |
E171D |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- AAATGCCCACTCACCTCTTTGG -3'
(R):5'- GCAACATCAGTTATGCATCTTTCC -3'
Sequencing Primer
(F):5'- CCTCTTTGGTGATCATTGTCATG -3'
(R):5'- CCCTCTCCCAACTTTAAAAATGATTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation