Incidental Mutation 'R5516:Tle4'
| ID |
431318 |
| 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 |
043075-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5516 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
14425514-14575415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14432253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 481
(I481N)
|
| 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: I481N
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: I481N
| 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: I481N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: I481N
| 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 |
|
| Meta Mutation Damage Score |
0.9564 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.4%
|
| Validation Efficiency |
97% (58/60) |
| 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 |
|---|
| Adgb |
T |
C |
10: 10,306,901 (GRCm39) |
K334R |
probably damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,573,927 (GRCm39) |
I809F |
possibly damaging |
Het |
| Bmp2k |
T |
A |
5: 97,235,312 (GRCm39) |
|
probably benign |
Het |
| C1qtnf9 |
T |
A |
14: 61,017,198 (GRCm39) |
C243S |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 119,034,179 (GRCm39) |
A146V |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,174,109 (GRCm39) |
V353A |
probably damaging |
Het |
| Cd300ld2 |
G |
T |
11: 114,903,270 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
A |
G |
17: 34,067,021 (GRCm39) |
Q170R |
possibly damaging |
Het |
| Cfap43 |
C |
T |
19: 47,726,648 (GRCm39) |
|
probably null |
Het |
| Chid1 |
A |
G |
7: 141,076,059 (GRCm39) |
S365P |
probably damaging |
Het |
| Chrna7 |
T |
G |
7: 62,749,046 (GRCm39) |
T479P |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,425,451 (GRCm39) |
R35L |
probably damaging |
Het |
| Cluh |
G |
A |
11: 74,551,270 (GRCm39) |
R373H |
probably damaging |
Het |
| Cyp2b23 |
G |
A |
7: 26,372,482 (GRCm39) |
R378* |
probably null |
Het |
| Cyp2d9 |
T |
G |
15: 82,338,528 (GRCm39) |
N136K |
probably null |
Het |
| Efcab5 |
A |
T |
11: 77,079,615 (GRCm39) |
S44T |
possibly damaging |
Het |
| Esrrg |
A |
T |
1: 187,930,927 (GRCm39) |
L316F |
possibly damaging |
Het |
| Fam222a |
T |
C |
5: 114,749,889 (GRCm39) |
Y362H |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,910,005 (GRCm39) |
V1999A |
probably damaging |
Het |
| Fes |
A |
T |
7: 80,036,931 (GRCm39) |
M51K |
probably damaging |
Het |
| Fmo3 |
T |
A |
1: 162,781,995 (GRCm39) |
K453* |
probably null |
Het |
| Galnt1 |
A |
G |
18: 24,413,074 (GRCm39) |
N458S |
probably benign |
Het |
| Gm8888 |
T |
A |
15: 96,664,855 (GRCm39) |
|
noncoding transcript |
Het |
| Gpn2 |
G |
A |
4: 133,312,190 (GRCm39) |
|
probably null |
Het |
| Grm4 |
G |
A |
17: 27,657,385 (GRCm39) |
T464I |
probably benign |
Het |
| Insr |
T |
A |
8: 3,205,764 (GRCm39) |
K1342* |
probably null |
Het |
| Krt87 |
T |
A |
15: 101,385,002 (GRCm39) |
K365* |
probably null |
Het |
| Lfng |
T |
C |
5: 140,599,018 (GRCm39) |
L309P |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,378,132 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
A |
C |
8: 4,285,818 (GRCm39) |
D681A |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,818,707 (GRCm39) |
D1326N |
probably benign |
Het |
| Mmp27 |
A |
G |
9: 7,579,063 (GRCm39) |
R413G |
probably null |
Het |
| Nags |
C |
T |
11: 102,036,773 (GRCm39) |
Q121* |
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,715,090 (GRCm39) |
E442G |
probably benign |
Het |
| Nek1 |
G |
C |
8: 61,542,523 (GRCm39) |
A729P |
probably benign |
Het |
| Or51a24 |
A |
G |
7: 103,733,444 (GRCm39) |
I281T |
possibly damaging |
Het |
| Pnp2 |
C |
T |
14: 51,201,195 (GRCm39) |
A189V |
probably benign |
Het |
| Ppm1m |
T |
A |
9: 106,075,138 (GRCm39) |
I136F |
probably damaging |
Het |
| Pramel21 |
A |
G |
4: 143,342,253 (GRCm39) |
Q120R |
possibly damaging |
Het |
| Psg17 |
G |
T |
7: 18,548,458 (GRCm39) |
Q438K |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 184,967,684 (GRCm39) |
Y163F |
probably benign |
Het |
| Scrib |
A |
T |
15: 75,934,712 (GRCm39) |
L627Q |
possibly damaging |
Het |
| Tcp1 |
A |
G |
17: 13,143,221 (GRCm39) |
K510R |
probably damaging |
Het |
| Tmem43 |
G |
T |
6: 91,455,192 (GRCm39) |
R56L |
possibly damaging |
Het |
| Trmt10a |
T |
C |
3: 137,857,957 (GRCm39) |
I168T |
possibly damaging |
Het |
| Trpv1 |
A |
T |
11: 73,136,809 (GRCm39) |
Y96F |
probably benign |
Het |
| Tshz3 |
C |
T |
7: 36,469,775 (GRCm39) |
T588I |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,559,702 (GRCm39) |
F397L |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,195,032 (GRCm39) |
S765P |
probably damaging |
Het |
| Zfp668 |
A |
G |
7: 127,466,318 (GRCm39) |
F289L |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,601,640 (GRCm39) |
T195A |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,828,333 (GRCm39) |
T182A |
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 |
|
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 |
|
|
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'- AATCGGGGTCTTTATCATCCCTG -3'
(R):5'- CATCTCAAGTGGCACTGAAAG -3'
Sequencing Primer
(F):5'- TGCTCACTTACCAGACAGTCCAG -3'
(R):5'- CAGACATGGTTAAGTGCATACCTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation