Incidental Mutation 'IGL02376:Tle4'
ID291096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tle4
Ensembl Gene ENSMUSG00000024642
Gene Nametransducin-like enhancer of split 4
SynonymsBce1, ESTM14, 5730411M05Rik, Grg4, ESTM13
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02376
Quality Score
Status
Chromosome19
Chromosomal Location14448072-14598051 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 14594404 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 78 (N78D)
Ref Sequence ENSEMBL: ENSMUSP00000126249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052011] [ENSMUST00000167776]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052011
AA Change: N78D

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: N78D

DomainStartEndE-ValueType
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: N78D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: N78D

DomainStartEndE-ValueType
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A G 10: 77,984,554 probably benign Het
2700081O15Rik C T 19: 7,422,376 P496L probably damaging Het
Abtb1 A G 6: 88,838,484 probably benign Het
Adcy3 G A 12: 4,201,031 E597K possibly damaging Het
Adcy9 A G 16: 4,418,680 V289A probably benign Het
Akr1d1 A T 6: 37,530,285 D14V probably damaging Het
Ankrd12 T C 17: 66,042,529 probably benign Het
Arap3 T C 18: 37,978,453 T1137A possibly damaging Het
Arhgef4 A T 1: 34,806,059 Q77L probably damaging Het
Arhgef7 A G 8: 11,817,735 T444A probably damaging Het
Arr3 A C X: 100,614,675 K281Q probably damaging Het
Arrdc2 A T 8: 70,838,979 I114N probably benign Het
Atg2b A T 12: 105,645,468 F1217Y probably damaging Het
C1qtnf1 A C 11: 118,448,068 Y188S probably benign Het
Cbx6 C A 15: 79,828,299 R309L probably benign Het
Chrna9 T C 5: 65,971,159 S237P probably damaging Het
Dapk1 G A 13: 60,696,394 V76I probably benign Het
Elk4 T A 1: 132,014,550 N53K probably benign Het
Epha7 A C 4: 28,951,287 T799P probably damaging Het
Exosc2 G A 2: 31,679,875 V233M possibly damaging Het
Fam217b A G 2: 178,417,573 D3G probably benign Het
Farp1 T A 14: 121,272,856 N755K probably damaging Het
Fer A G 17: 63,934,346 E327G possibly damaging Het
Fmnl3 A T 15: 99,318,963 F1017Y possibly damaging Het
Gabbr2 A C 4: 46,684,300 I658S probably damaging Het
Gemin2 A G 12: 59,021,720 D195G probably benign Het
Gtf3c1 T A 7: 125,668,996 Y875F probably benign Het
Hnrnpr G A 4: 136,319,455 G149D probably damaging Het
Krt74 A C 15: 101,754,503 noncoding transcript Het
Ltf A G 9: 111,029,624 D480G probably benign Het
Map1b A G 13: 99,435,595 L206P probably damaging Het
Meis1 T C 11: 18,881,752 M429V probably benign Het
Myh4 C A 11: 67,245,728 T444N probably benign Het
Nckap1l A T 15: 103,471,231 Y315F possibly damaging Het
Ndst3 A G 3: 123,556,798 I646T probably damaging Het
Ndufv1 T C 19: 4,007,823 probably null Het
Ogdhl T C 14: 32,343,318 Y710H probably damaging Het
Olfr1263 A G 2: 90,015,460 I177V probably benign Het
Otud7b A G 3: 96,155,037 K531R possibly damaging Het
Pax3 T C 1: 78,132,292 Y243C probably damaging Het
Pde1a A G 2: 79,875,223 probably benign Het
Pik3cb C T 9: 99,052,352 M813I probably benign Het
Prss42 A T 9: 110,803,107 D302V possibly damaging Het
Rad52 T C 6: 119,915,230 probably benign Het
Reln A T 5: 22,080,791 Y393* probably null Het
Rhbdd3 T C 11: 5,103,192 probably benign Het
Sbf2 C T 7: 110,462,956 G138D probably damaging Het
Slco1a1 A T 6: 141,924,334 probably null Het
Smg9 A G 7: 24,415,030 I265V probably benign Het
Sppl2b G T 10: 80,867,598 E565* probably null Het
Stx6 T A 1: 155,201,979 V244D probably benign Het
Tmcc3 A G 10: 94,578,567 I44V possibly damaging Het
Tnnt3 C T 7: 142,512,558 T220I possibly damaging Het
Ttn A T 2: 76,727,467 D29798E possibly damaging Het
Vtcn1 A T 3: 100,892,665 M281L probably benign Het
Zfp595 T C 13: 67,316,450 K586R possibly damaging Het
Other mutations in Tle4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Tle4 APN 19 14468261 missense probably benign 0.00
IGL01449:Tle4 APN 19 14465340 missense probably benign 0.00
IGL01618:Tle4 APN 19 14544814 missense probably benign 0.07
IGL01636:Tle4 APN 19 14452533 missense probably damaging 0.97
IGL01750:Tle4 APN 19 14449789 missense probably damaging 1.00
R0006:Tle4 UTSW 19 14466714 splice site probably benign
R1068:Tle4 UTSW 19 14452179 missense probably damaging 1.00
R1174:Tle4 UTSW 19 14468262 missense probably benign
R1594:Tle4 UTSW 19 14453606 nonsense probably null
R1671:Tle4 UTSW 19 14453739 missense probably damaging 1.00
R1891:Tle4 UTSW 19 14544786 critical splice donor site probably null
R1951:Tle4 UTSW 19 14516357 critical splice donor site probably null
R2068:Tle4 UTSW 19 14449749 nonsense probably null
R3858:Tle4 UTSW 19 14468213 missense probably benign 0.11
R3859:Tle4 UTSW 19 14468213 missense probably benign 0.11
R3946:Tle4 UTSW 19 14597388 missense probably damaging 0.98
R4357:Tle4 UTSW 19 14468261 missense probably benign 0.00
R4395:Tle4 UTSW 19 14517938 missense probably benign 0.20
R4491:Tle4 UTSW 19 14454865 missense probably damaging 1.00
R4860:Tle4 UTSW 19 14464345 missense probably benign 0.30
R4860:Tle4 UTSW 19 14464345 missense probably benign 0.30
R5336:Tle4 UTSW 19 14454739 critical splice donor site probably null
R5516:Tle4 UTSW 19 14454889 missense probably damaging 0.99
R5611:Tle4 UTSW 19 14449795 missense probably damaging 1.00
R6032:Tle4 UTSW 19 14452108 missense possibly damaging 0.74
R6032:Tle4 UTSW 19 14452108 missense possibly damaging 0.74
R6113:Tle4 UTSW 19 14595588 critical splice donor site probably null
R6513:Tle4 UTSW 19 14451692 missense probably damaging 0.99
R6995:Tle4 UTSW 19 14564453 critical splice acceptor site probably null
R7175:Tle4 UTSW 19 14451707 missense probably damaging 1.00
R7310:Tle4 UTSW 19 14517791 missense probably benign 0.04
Posted On2015-04-16