Incidental Mutation 'IGL02303:Tlcd1'
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ID287488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlcd1
Ensembl Gene ENSMUSG00000019437
Gene NameTLC domain containing 1
Synonyms0610030G03Rik, 0610007A15Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.327) question?
Stock #IGL02303
Quality Score
Status
Chromosome11
Chromosomal Location78176711-78181909 bp(+) (GRCm38)
Type of Mutationunclassified (459 bp from exon)
DNA Base Change (assembly) A to G at 78180334 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017549] [ENSMUST00000092880] [ENSMUST00000098545] [ENSMUST00000102483] [ENSMUST00000108338] [ENSMUST00000127587] [ENSMUST00000147819] [ENSMUST00000148154]
Predicted Effect probably benign
Transcript: ENSMUST00000017549
SMART Domains Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405

DomainStartEndE-ValueType
S_TKc 4 258 1.59e-81 SMART
low complexity region 288 316 N/A INTRINSIC
low complexity region 364 378 N/A INTRINSIC
Pfam:RCC1 415 464 4.1e-12 PFAM
Pfam:RCC1_2 451 480 9.2e-10 PFAM
Pfam:RCC1 467 516 9.9e-16 PFAM
Pfam:RCC1 585 634 4.4e-15 PFAM
Pfam:RCC1 637 687 2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083742
Predicted Effect probably benign
Transcript: ENSMUST00000092880
SMART Domains Protein: ENSMUSP00000090556
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
TLC 28 217 1.19e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098545
SMART Domains Protein: ENSMUSP00000096145
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
TLC 40 207 5.98e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102483
SMART Domains Protein: ENSMUSP00000099541
Gene: ENSMUSG00000058546

DomainStartEndE-ValueType
Pfam:Ribosomal_L23eN 15 68 9.7e-26 PFAM
Pfam:Ribosomal_L23 74 153 1.8e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104437
Predicted Effect probably null
Transcript: ENSMUST00000108338
SMART Domains Protein: ENSMUSP00000103975
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
Pfam:TRAM_LAG1_CLN8 44 122 3.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127270
Predicted Effect probably benign
Transcript: ENSMUST00000127587
SMART Domains Protein: ENSMUSP00000114202
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
TLC 40 234 1.41e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145507
Predicted Effect probably benign
Transcript: ENSMUST00000147819
SMART Domains Protein: ENSMUSP00000126593
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
Pfam:TRAM_LAG1_CLN8 33 103 4.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148154
SMART Domains Protein: ENSMUSP00000127554
Gene: ENSMUSG00000017405

DomainStartEndE-ValueType
Pfam:Pkinase 1 103 4.1e-20 PFAM
Pfam:Pkinase_Tyr 1 103 3.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184358
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,154,550 F319S probably damaging Het
Ap3b1 A G 13: 94,528,319 D922G unknown Het
Bhlhe41 A T 6: 145,864,156 H107Q probably damaging Het
Csmd2 C A 4: 128,369,008 H662Q probably benign Het
Dnah8 T C 17: 30,713,047 V1463A probably benign Het
Ebf3 A T 7: 137,309,365 V140E probably benign Het
Havcr2 T A 11: 46,479,281 probably benign Het
Hexb G A 13: 97,176,893 A485V probably damaging Het
Igkv5-37 T A 6: 69,963,489 Q57L probably damaging Het
Ipo5 T A 14: 120,917,383 S40T probably benign Het
Kcnj8 A G 6: 142,570,111 M90T probably benign Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Kmt2c A C 5: 25,310,157 L2896R probably damaging Het
Ldlrap1 A T 4: 134,757,395 I96N probably damaging Het
Leo1 A G 9: 75,445,999 probably benign Het
Mbnl2 T C 14: 120,404,647 M341T probably benign Het
Nfatc2 G A 2: 168,506,901 R669* probably null Het
Nhlrc2 T A 19: 56,574,848 V293E probably damaging Het
Olfr23 T C 11: 73,940,450 F68S possibly damaging Het
Olfr521 A G 7: 99,767,972 D270G possibly damaging Het
Olfr610 A T 7: 103,506,088 M286K probably benign Het
Olfr632 A G 7: 103,937,563 Q61R possibly damaging Het
Otoa T A 7: 121,132,924 probably null Het
Pcnt T C 10: 76,442,559 probably benign Het
Recql4 G T 15: 76,708,571 Q307K possibly damaging Het
Sp140 T A 1: 85,643,009 Y453* probably null Het
Sspo G A 6: 48,484,705 V3600I possibly damaging Het
Sybu T C 15: 44,673,223 E441G probably benign Het
Syne3 A T 12: 104,963,294 H222Q probably damaging Het
Tef T C 15: 81,821,295 V173A probably benign Het
Tmod4 C A 3: 95,125,642 Q30K probably benign Het
Tpgs1 T C 10: 79,675,488 Y155H probably damaging Het
Trib3 G A 2: 152,343,150 P60S probably benign Het
Ttn T A 2: 76,730,206 T20957S probably damaging Het
Vars T C 17: 35,015,484 probably benign Het
Vps13c T C 9: 67,945,481 probably benign Het
Zc3h4 T C 7: 16,434,077 S704P unknown Het
Zfp644 G A 5: 106,637,314 R456W probably damaging Het
Other mutations in Tlcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Tlcd1 APN 11 78180088 missense probably damaging 1.00
IGL01014:Tlcd1 APN 11 78179457 splice site probably null
IGL01797:Tlcd1 APN 11 78180334 unclassified probably null
IGL02638:Tlcd1 APN 11 78179618 missense probably benign 0.18
IGL02685:Tlcd1 APN 11 78179537 unclassified probably benign
R2446:Tlcd1 UTSW 11 78178797 unclassified probably benign
R5583:Tlcd1 UTSW 11 78178936 missense probably benign 0.05
RF002:Tlcd1 UTSW 11 78180194 missense probably benign 0.01
Posted On2015-04-16