Incidental Mutation 'IGL02064:Tbc1d14'
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ID185571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d14
Ensembl Gene ENSMUSG00000029192
Gene NameTBC1 domain family, member 14
Synonyms2810413P16Rik, D5Ertd110e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02064
Quality Score
Status
Chromosome5
Chromosomal Location36490604-36593276 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 36507675 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 237 (L237*)
Ref Sequence ENSEMBL: ENSMUSP00000131876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031094] [ENSMUST00000124036] [ENSMUST00000126077] [ENSMUST00000130417] [ENSMUST00000136189] [ENSMUST00000140607] [ENSMUST00000146430] [ENSMUST00000150813] [ENSMUST00000171385]
Predicted Effect probably null
Transcript: ENSMUST00000031094
AA Change: L518*
SMART Domains Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: L518*

DomainStartEndE-ValueType
low complexity region 159 174 N/A INTRINSIC
Blast:TBC 316 375 1e-8 BLAST
TBC 399 635 1.49e-54 SMART
Predicted Effect probably null
Transcript: ENSMUST00000124036
AA Change: L538*
SMART Domains Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: L538*

DomainStartEndE-ValueType
low complexity region 179 194 N/A INTRINSIC
Blast:TBC 336 395 1e-8 BLAST
TBC 419 655 1.49e-54 SMART
Predicted Effect probably null
Transcript: ENSMUST00000126077
AA Change: L237*
SMART Domains Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192
AA Change: L237*

DomainStartEndE-ValueType
Blast:TBC 35 94 5e-9 BLAST
TBC 118 354 1.49e-54 SMART
Predicted Effect probably null
Transcript: ENSMUST00000130417
AA Change: L538*
SMART Domains Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: L538*

DomainStartEndE-ValueType
low complexity region 179 194 N/A INTRINSIC
Blast:TBC 336 395 1e-8 BLAST
TBC 419 655 1.49e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136189
SMART Domains Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192

DomainStartEndE-ValueType
low complexity region 159 174 N/A INTRINSIC
Blast:TBC 247 322 1e-32 BLAST
TBC 399 559 8.9e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000140607
AA Change: L518*
SMART Domains Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: L518*

DomainStartEndE-ValueType
low complexity region 159 174 N/A INTRINSIC
Blast:TBC 316 375 1e-8 BLAST
TBC 399 635 1.49e-54 SMART
Predicted Effect probably null
Transcript: ENSMUST00000146430
AA Change: L518*
SMART Domains Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: L518*

DomainStartEndE-ValueType
low complexity region 159 174 N/A INTRINSIC
Blast:TBC 316 375 1e-8 BLAST
TBC 399 635 1.49e-54 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149157
Predicted Effect probably null
Transcript: ENSMUST00000150813
AA Change: L237*
SMART Domains Protein: ENSMUSP00000115926
Gene: ENSMUSG00000029192
AA Change: L237*

DomainStartEndE-ValueType
Blast:TBC 35 94 3e-9 BLAST
TBC 118 305 1.08e-10 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171385
AA Change: L237*
SMART Domains Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192
AA Change: L237*

DomainStartEndE-ValueType
Blast:TBC 35 94 5e-9 BLAST
TBC 118 354 1.49e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173532
SMART Domains Protein: ENSMUSP00000133477
Gene: ENSMUSG00000029192

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
Pfam:RabGAP-TBC 59 129 6.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173757
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Embryos homozygous for an ENU-induced mutation appear arrested at an egg cylinder-like state and show complete embryonic lethality between implantation and placentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732456N10Rik T C 15: 101,562,653 H58R possibly damaging Het
Acap2 A C 16: 31,127,328 W284G probably damaging Het
Acsf3 T C 8: 122,780,247 L93P possibly damaging Het
Agbl2 G T 2: 90,784,024 probably benign Het
Arap3 C T 18: 37,991,701 G242D probably damaging Het
Asxl3 G A 18: 22,524,344 V1804I possibly damaging Het
BC025446 A G 15: 75,221,656 probably benign Het
Bnc1 C A 7: 81,973,503 V659L probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Car9 A G 4: 43,507,363 E103G probably benign Het
Chrm4 A G 2: 91,927,831 T195A probably damaging Het
Cldn10 T C 14: 118,855,012 I8T probably damaging Het
Col12a1 G A 9: 79,692,372 S833F probably benign Het
Cryba2 T A 1: 74,890,561 D139V possibly damaging Het
Emp1 T A 6: 135,377,212 M1K probably null Het
Exosc4 C A 15: 76,329,636 A220E probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fryl A G 5: 73,124,769 probably benign Het
Gm8298 T C 3: 59,877,042 L312P probably damaging Het
Grid2 C T 6: 64,063,935 T287I probably benign Het
Grifin C T 5: 140,564,739 A7T probably damaging Het
Gzmg T C 14: 56,157,341 K157E probably benign Het
Kcnq2 A T 2: 181,109,026 I340N probably damaging Het
Klrb1 T A 6: 128,710,637 H98L probably benign Het
Krtap5-2 C A 7: 142,175,731 G71C unknown Het
Krtap7-1 A T 16: 89,508,123 M47K probably benign Het
Lmntd1 T A 6: 145,427,276 probably null Het
Musk A G 4: 58,286,128 N6S possibly damaging Het
Olfr169 A G 16: 19,566,548 C112R probably damaging Het
Olfr33 A G 7: 102,713,601 F271L probably damaging Het
Olfr482 T G 7: 108,095,247 T108P probably benign Het
Olfr682-ps1 A T 7: 105,127,034 F89Y possibly damaging Het
Olfr893 T A 9: 38,209,578 I122N probably damaging Het
Pcdh19 A G X: 133,685,970 M432T probably benign Het
Prdm1 A G 10: 44,441,342 F495S probably damaging Het
Prkar2a T C 9: 108,733,204 Y211H possibly damaging Het
Ralgapa1 C A 12: 55,708,077 G1143V probably damaging Het
Rbbp7 A G X: 162,769,787 probably null Het
Scel C A 14: 103,533,326 H65Q probably damaging Het
Sec24d T C 3: 123,343,814 probably benign Het
Sfswap C A 5: 129,560,796 T839N probably benign Het
Slc15a1 T C 14: 121,462,499 I636V possibly damaging Het
Slc15a1 G T 14: 121,462,474 P644H probably benign Het
Slc6a21 T A 7: 45,286,459 I38N possibly damaging Het
Sucla2 C T 14: 73,579,473 Q218* probably null Het
Trpm7 C T 2: 126,797,943 E1578K probably damaging Het
Ttc17 G A 2: 94,330,667 T896I probably damaging Het
Virma A G 4: 11,513,163 D339G possibly damaging Het
Vmn2r54 T A 7: 12,615,606 Y683F probably benign Het
Xrra1 T A 7: 99,914,204 L466Q probably damaging Het
Other mutations in Tbc1d14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Tbc1d14 APN 5 36543200 nonsense probably null
IGL01759:Tbc1d14 APN 5 36571569 missense probably damaging 1.00
IGL01939:Tbc1d14 APN 5 36508437 unclassified probably benign
IGL01977:Tbc1d14 APN 5 36505037 missense probably damaging 1.00
IGL02250:Tbc1d14 APN 5 36571519 missense probably damaging 1.00
IGL02370:Tbc1d14 APN 5 36495218 missense possibly damaging 0.68
IGL03088:Tbc1d14 APN 5 36524964 missense probably damaging 1.00
R0408:Tbc1d14 UTSW 5 36571299 missense possibly damaging 0.83
R1863:Tbc1d14 UTSW 5 36507693 missense probably damaging 1.00
R2007:Tbc1d14 UTSW 5 36571374 missense possibly damaging 0.78
R2064:Tbc1d14 UTSW 5 36522930 nonsense probably null
R2266:Tbc1d14 UTSW 5 36543217 missense possibly damaging 0.52
R2267:Tbc1d14 UTSW 5 36543217 missense possibly damaging 0.52
R2268:Tbc1d14 UTSW 5 36543217 missense possibly damaging 0.52
R2269:Tbc1d14 UTSW 5 36543217 missense possibly damaging 0.52
R3955:Tbc1d14 UTSW 5 36543215 nonsense probably null
R4222:Tbc1d14 UTSW 5 36493108 missense probably benign
R4618:Tbc1d14 UTSW 5 36530381 intron probably benign
R4780:Tbc1d14 UTSW 5 36571256 intron probably benign
R4817:Tbc1d14 UTSW 5 36571831 missense probably damaging 1.00
R5315:Tbc1d14 UTSW 5 36507588 missense probably damaging 0.99
R5521:Tbc1d14 UTSW 5 36520552 missense probably damaging 0.99
R5590:Tbc1d14 UTSW 5 36525045 missense probably damaging 1.00
R6190:Tbc1d14 UTSW 5 36571884 missense possibly damaging 0.58
R6502:Tbc1d14 UTSW 5 36520481 missense possibly damaging 0.62
R6748:Tbc1d14 UTSW 5 36495254 missense probably damaging 0.96
R7089:Tbc1d14 UTSW 5 36512540 missense probably benign 0.03
R7667:Tbc1d14 UTSW 5 36495038 missense probably damaging 1.00
R8020:Tbc1d14 UTSW 5 36571843 missense probably benign 0.29
R8389:Tbc1d14 UTSW 5 36530448 intron probably benign
Posted On2014-05-07