Incidental Mutation 'IGL02140:Timd4'
ID281489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timd4
Ensembl Gene ENSMUSG00000055546
Gene NameT cell immunoglobulin and mucin domain containing 4
SynonymsTim4, B430010N18Rik, TIM-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02140
Quality Score
Status
Chromosome11
Chromosomal Location46810800-46844332 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 46820014 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 248 (S248T)
Ref Sequence ENSEMBL: ENSMUSP00000069456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068877]
PDB Structure
Tim-4 [X-RAY DIFFRACTION]
Tim-4 in complex with sodium potassium tartrate [X-RAY DIFFRACTION]
Tim-4 in complex with phosphatidylserine [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068877
AA Change: S248T

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000069456
Gene: ENSMUSG00000055546
AA Change: S248T

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
IG 25 132 3.59e-5 SMART
low complexity region 135 182 N/A INTRINSIC
low complexity region 248 271 N/A INTRINSIC
transmembrane domain 279 301 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage phagocytosis, altered macrophage physiology, and increased peritoneal lymphoid and meyloid cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,148,260 V144I probably benign Het
B3gat1 A G 9: 26,757,747 K325E possibly damaging Het
Cd36 T A 5: 17,828,768 probably benign Het
Ces3a A G 8: 105,055,631 E325G probably benign Het
Col1a2 G A 6: 4,515,639 G136D unknown Het
Cyp3a25 T G 5: 146,009,463 probably benign Het
Cyp3a59 T C 5: 146,102,880 L321P probably damaging Het
Dag1 A G 9: 108,218,192 S34P probably damaging Het
Defa27 A T 8: 21,315,658 K13* probably null Het
Disp2 T C 2: 118,790,869 F694S probably benign Het
Dnah12 G T 14: 26,716,577 A454S probably benign Het
Dync2h1 A T 9: 7,147,791 D946E probably benign Het
Fcgbp A G 7: 28,091,954 E880G probably damaging Het
Fgfr4 T C 13: 55,161,179 V371A probably benign Het
Frem3 G T 8: 80,614,107 V1010F possibly damaging Het
Gm13283 G A 4: 88,761,035 V88I probably benign Het
Gm5134 G A 10: 75,986,111 V260I probably benign Het
Grhl2 A G 15: 37,270,586 probably benign Het
Hectd1 A T 12: 51,774,137 W1090R probably damaging Het
Hydin G A 8: 110,566,938 V3506I probably benign Het
Igkc C T 6: 70,726,575 R47* probably null Het
Iglv3 T A 16: 19,241,410 Q56L probably damaging Het
Impg2 T A 16: 56,259,468 M436K probably benign Het
Kcnma1 T A 14: 23,309,045 K1110N probably damaging Het
Marf1 T C 16: 14,141,912 E694G probably damaging Het
Nup37 A C 10: 88,158,929 K118T probably benign Het
Olfr1246 T C 2: 89,590,242 E291G probably damaging Het
Olfr129 A G 17: 38,055,590 M1T probably null Het
P3h1 A G 4: 119,237,865 D273G probably damaging Het
Pcsk9 T C 4: 106,454,646 D178G probably benign Het
Phyhipl T C 10: 70,570,830 K53R probably damaging Het
Pkp3 T G 7: 141,089,336 L697R probably damaging Het
Rab11fip3 A G 17: 26,067,892 V429A probably benign Het
Rgl2 A G 17: 33,933,124 N295S probably damaging Het
Spag5 A T 11: 78,315,633 D817V possibly damaging Het
Tas2r117 C A 6: 132,803,595 T232K probably benign Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Tmem207 A T 16: 26,516,740 N82K probably benign Het
Ttn T A 2: 76,708,213 T34714S possibly damaging Het
Vmn1r194 G A 13: 22,244,536 V108I probably benign Het
Vmn2r24 T A 6: 123,780,672 S166R probably damaging Het
Vmn2r32 A G 7: 7,476,697 F159S probably damaging Het
Wdr72 A T 9: 74,210,223 Q739L probably benign Het
Other mutations in Timd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02247:Timd4 APN 11 46815731 missense probably damaging 1.00
IGL02803:Timd4 APN 11 46815694 missense probably damaging 1.00
IGL02991:Timd4 APN 11 46842147 splice site probably benign
R0318:Timd4 UTSW 11 46837071 missense probably benign 0.00
R0427:Timd4 UTSW 11 46819257 missense probably benign 0.00
R1175:Timd4 UTSW 11 46817671 missense probably damaging 1.00
R1185:Timd4 UTSW 11 46817648 missense probably damaging 0.99
R1185:Timd4 UTSW 11 46817648 missense probably damaging 0.99
R1185:Timd4 UTSW 11 46817648 missense probably damaging 0.99
R1635:Timd4 UTSW 11 46842162 missense possibly damaging 0.92
R2011:Timd4 UTSW 11 46820030 missense possibly damaging 0.79
R2012:Timd4 UTSW 11 46820030 missense possibly damaging 0.79
R4994:Timd4 UTSW 11 46815517 missense probably damaging 0.99
R5511:Timd4 UTSW 11 46819980 splice site probably null
R5739:Timd4 UTSW 11 46817746 missense probably benign 0.10
R5991:Timd4 UTSW 11 46843203 makesense probably null
R6207:Timd4 UTSW 11 46815526 missense probably damaging 0.98
R6863:Timd4 UTSW 11 46815443 nonsense probably null
R7230:Timd4 UTSW 11 46810864 missense probably benign 0.01
R7254:Timd4 UTSW 11 46843189 missense probably benign 0.04
R7466:Timd4 UTSW 11 46817758 missense probably benign 0.01
R7750:Timd4 UTSW 11 46815527 missense probably damaging 1.00
Posted On2015-04-16