Incidental Mutation 'R5991:Timd4'
ID482020
Institutional Source Beutler Lab
Gene Symbol Timd4
Ensembl Gene ENSMUSG00000055546
Gene NameT cell immunoglobulin and mucin domain containing 4
SynonymsTim4, B430010N18Rik, TIM-4
MMRRC Submission 044171-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #R5991 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location46810800-46844332 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 46843203 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Tryptophan at position 344 (*344W)
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 probably null
Transcript: ENSMUST00000068877
AA Change: *344W
SMART Domains Protein: ENSMUSP00000069456
Gene: ENSMUSG00000055546
AA Change: *344W

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 96% (53/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars G A 8: 111,050,400 R683Q probably damaging Het
Adam8 T A 7: 139,990,287 H69L probably damaging Het
Bbs2 G T 8: 94,098,286 R23S probably benign Het
Bod1l A T 5: 41,816,863 C2369* probably null Het
Capn11 G T 17: 45,659,352 probably null Het
Carmil2 A G 8: 105,691,391 Q679R probably null Het
Cep120 T C 18: 53,721,798 I422V probably benign Het
Cnot7 A C 8: 40,495,655 probably null Het
Col1a1 T C 11: 94,937,919 V29A unknown Het
Dnttip1 A T 2: 164,754,180 Q115L possibly damaging Het
Dyrk4 A G 6: 126,880,225 V497A probably benign Het
Ep300 A G 15: 81,648,466 D1635G unknown Het
Ercc5 T A 1: 44,180,830 C1087* probably null Het
Fap A T 2: 62,518,521 M517K probably damaging Het
Focad C A 4: 88,401,019 D1574E possibly damaging Het
Fsip2 C T 2: 82,990,468 P5515L probably benign Het
Gm9733 G T 3: 15,320,758 A28E probably benign Het
Gpr158 T C 2: 21,368,508 Y85H probably damaging Het
Hc A G 2: 35,006,105 V1222A possibly damaging Het
Hipk3 C T 2: 104,437,983 M546I probably damaging Het
Jup T C 11: 100,379,569 N371D possibly damaging Het
Ltbp4 A G 7: 27,309,316 Y1262H probably damaging Het
Lyar A G 5: 38,227,865 E83G probably damaging Het
Lyg2 C T 1: 37,915,719 probably null Het
Mtmr11 T A 3: 96,168,589 probably null Het
Myct1 A T 10: 5,604,426 R98* probably null Het
Nol11 T C 11: 107,171,145 T612A probably benign Het
Olfr1034 A G 2: 86,046,910 I143V probably benign Het
Olfr1218 C T 2: 89,054,782 V215I probably benign Het
Olfr1314 C T 2: 112,092,615 V29M probably benign Het
Olfr167 T C 16: 19,514,757 N293S probably damaging Het
Olfr32 T A 2: 90,138,234 K302* probably null Het
Parp14 G A 16: 35,841,457 P1403S probably benign Het
Pcdhb3 T C 18: 37,301,508 S176P probably benign Het
Pdcd1lg2 C T 19: 29,454,467 R212W probably benign Het
Plin3 T C 17: 56,286,576 Y46C probably damaging Het
Rfx7 G A 9: 72,619,538 E1337K possibly damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Ryr1 G T 7: 29,104,610 N584K probably damaging Het
Scmh1 T C 4: 120,522,620 V544A probably benign Het
Sdk2 G A 11: 113,943,254 T34M probably damaging Het
Serpinb9e T A 13: 33,259,807 L270H probably damaging Het
Shoc2 T A 19: 54,003,049 N248K probably damaging Het
Slc25a4 T C 8: 46,209,336 Y95C probably damaging Het
Slc4a1ap A G 5: 31,534,069 N403S possibly damaging Het
Spink10 T A 18: 62,657,885 W7R probably null Het
Ssrp1 A G 2: 85,042,296 K426R possibly damaging Het
Tbc1d24 G A 17: 24,209,069 probably benign Het
Tead3 A T 17: 28,334,378 probably null Het
Tmem181a T A 17: 6,289,037 W115R probably damaging Het
Tmem245 G A 4: 56,916,733 T65I probably damaging Het
Vmn1r12 G C 6: 57,159,655 V202L probably damaging Het
Vmn1r80 A G 7: 12,193,496 T178A probably benign Het
Vps33b T A 7: 80,283,414 probably null Het
Zmym6 T A 4: 127,108,473 probably null Het
Other mutations in Timd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02140:Timd4 APN 11 46820014 missense possibly damaging 0.61
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
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
Predicted Primers PCR Primer
(F):5'- CTCAGCCTGCTTTAGTGGTG -3'
(R):5'- CAAGCCCAGTGTGAAAAGTC -3'

Sequencing Primer
(F):5'- TGTTATAGCCGAGCAGGTCCAG -3'
(R):5'- AGGACTAAGGCACGAGGC -3'
Posted On2017-06-26