Incidental Mutation 'R4491:Tle4'
ID 330755
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 041747-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4491 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 14425514-14575415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14432229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 489 (V489A)
Ref Sequence ENSEMBL: ENSMUSP00000126249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052011] [ENSMUST00000167776]
AlphaFold Q62441
Predicted Effect probably damaging
Transcript: ENSMUST00000052011
AA Change: V489A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: V489A

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: V489A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: V489A

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
Meta Mutation Damage Score 0.7596 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,812 (GRCm39) P183T probably damaging Het
Bcan G A 3: 87,897,540 (GRCm39) R682* probably null Het
Bzw1 T A 1: 58,443,418 (GRCm39) L410Q probably damaging Het
Cdh5 A T 8: 104,839,672 (GRCm39) I48F probably damaging Het
Cdhr5 T C 7: 140,853,970 (GRCm39) N173D possibly damaging Het
Cfap74 T C 4: 155,513,628 (GRCm39) M480T probably benign Het
Col6a5 C T 9: 105,817,211 (GRCm39) A367T unknown Het
Cpsf1 A C 15: 76,481,922 (GRCm39) Y1064D possibly damaging Het
Defb6 A T 8: 19,278,090 (GRCm39) H54L probably benign Het
Dmtf1 A G 5: 9,190,379 (GRCm39) probably benign Het
Dnah12 T C 14: 26,455,758 (GRCm39) L827S possibly damaging Het
Dnai4 T C 4: 102,923,596 (GRCm39) E411G probably benign Het
Dsc3 T C 18: 20,134,922 (GRCm39) T21A probably benign Het
Epb41l1 G T 2: 156,364,088 (GRCm39) D866Y probably benign Het
Epha1 T C 6: 42,337,600 (GRCm39) M860V probably damaging Het
Far2 T C 6: 148,074,907 (GRCm39) L380P possibly damaging Het
Fgd5 A G 6: 91,966,280 (GRCm39) I680V possibly damaging Het
Fnbp4 T C 2: 90,583,312 (GRCm39) probably null Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gm14180 T A 11: 99,621,139 (GRCm39) probably benign Het
Hbb-bh2 T C 7: 103,489,622 (GRCm39) T5A probably benign Het
Ighv7-2 A G 12: 113,876,100 (GRCm39) F2L probably benign Het
Igsf5 A G 16: 96,165,281 (GRCm39) T19A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klb A G 5: 65,533,137 (GRCm39) N482S probably benign Het
Lipo2 A C 19: 33,699,100 (GRCm39) L310R probably damaging Het
Mc3r A G 2: 172,091,123 (GRCm39) H115R possibly damaging Het
Meioc A G 11: 102,565,746 (GRCm39) D398G possibly damaging Het
Or10ag60 G A 2: 87,437,736 (GRCm39) M1I probably null Het
Or56a5 A T 7: 104,792,983 (GRCm39) C172* probably null Het
Or7a37 T C 10: 78,806,151 (GRCm39) S223P probably damaging Het
Pds5a T C 5: 65,792,780 (GRCm39) T718A probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pla2g2c T C 4: 138,461,719 (GRCm39) probably null Het
Plch1 T C 3: 63,648,160 (GRCm39) I404V probably damaging Het
Pou2af3 A G 9: 51,181,955 (GRCm39) F206L probably benign Het
Ppp2r5c A T 12: 110,546,956 (GRCm39) D522V possibly damaging Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Rapgef1 C T 2: 29,609,668 (GRCm39) P702S possibly damaging Het
Rasal3 T A 17: 32,610,359 (GRCm39) D976V probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rptn A T 3: 93,303,818 (GRCm39) R384* probably null Het
Sema6a G A 18: 47,439,524 (GRCm39) probably benign Het
Sycp2 G T 2: 178,016,778 (GRCm39) T608K probably damaging Het
Syde1 C T 10: 78,426,062 (GRCm39) R35H probably benign Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Taf15 A T 11: 83,375,520 (GRCm39) T31S probably benign Het
Tktl2 T C 8: 66,964,664 (GRCm39) V74A probably damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Trmt9b G A 8: 36,972,760 (GRCm39) C70Y probably damaging Het
Vmn1r75 C A 7: 11,614,909 (GRCm39) Q214K probably damaging Het
Vps13c C T 9: 67,817,475 (GRCm39) T1049M probably benign Het
Zfp37 T C 4: 62,110,365 (GRCm39) Q274R probably benign Het
Zfp648 T G 1: 154,080,873 (GRCm39) L344R probably damaging Het
Other mutations in Tle4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTGCTGATTTTCACAATCGGGG -3'
(R):5'- AGTGGCACTGAAAGAAAGGATTTTC -3'

Sequencing Primer
(F):5'- ACAATCGGGGTCTTTATCATCC -3'
(R):5'- CAGACATGGTTAAGTGCATACCTC -3'
Posted On 2015-07-21