Incidental Mutation 'IGL01977:Tbc1d14'
ID 181712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d14
Ensembl Gene ENSMUSG00000029192
Gene Name TBC1 domain family, member 14
Synonyms 2810413P16Rik, D5Ertd110e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01977
Quality Score
Status
Chromosome 5
Chromosomal Location 36647948-36743611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36662381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 302 (Y302C)
Ref Sequence ENSEMBL: ENSMUSP00000131876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031094] [ENSMUST00000124036] [ENSMUST00000126077] [ENSMUST00000130417] [ENSMUST00000136189] [ENSMUST00000140607] [ENSMUST00000171385] [ENSMUST00000150813] [ENSMUST00000146430]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031094
AA Change: Y583C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: Y583C

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 damaging
Transcript: ENSMUST00000124036
AA Change: Y603C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: Y603C

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 damaging
Transcript: ENSMUST00000126077
AA Change: Y302C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192
AA Change: Y302C

DomainStartEndE-ValueType
Blast:TBC 35 94 5e-9 BLAST
TBC 118 354 1.49e-54 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130417
AA Change: Y603C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: Y603C

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 damaging
Transcript: ENSMUST00000136189
AA Change: Y507C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
AA Change: Y507C

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 damaging
Transcript: ENSMUST00000140607
AA Change: Y583C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: Y583C

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 damaging
Transcript: ENSMUST00000171385
AA Change: Y302C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192
AA Change: Y302C

DomainStartEndE-ValueType
Blast:TBC 35 94 5e-9 BLAST
TBC 118 354 1.49e-54 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150813
AA Change: Y302C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115926
Gene: ENSMUSG00000029192
AA Change: Y302C

DomainStartEndE-ValueType
Blast:TBC 35 94 3e-9 BLAST
TBC 118 305 1.08e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000146430
AA Change: Y583C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: Y583C

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 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,841,986 (GRCm39) S1040T probably benign Het
Adam25 T C 8: 41,208,134 (GRCm39) Y467H probably benign Het
Ank1 A G 8: 23,605,449 (GRCm39) I1061V probably benign Het
Anxa10 T C 8: 62,529,348 (GRCm39) E123G probably damaging Het
Arhgap35 G A 7: 16,297,128 (GRCm39) L646F probably damaging Het
Atp8b5 A G 4: 43,320,590 (GRCm39) probably null Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Carmil3 A G 14: 55,730,993 (GRCm39) T87A probably damaging Het
Ccdc172 A G 19: 58,541,309 (GRCm39) D256G possibly damaging Het
Cep350 C T 1: 155,787,714 (GRCm39) A1375T probably benign Het
Chrdl2 A T 7: 99,671,263 (GRCm39) Q127L probably benign Het
Cyp2c29 T C 19: 39,279,341 (GRCm39) probably benign Het
Ddi1 C A 9: 6,266,226 (GRCm39) V48F probably benign Het
Ddrgk1 C T 2: 130,497,166 (GRCm39) probably benign Het
Fastkd1 C T 2: 69,524,932 (GRCm39) V626I possibly damaging Het
Fgd5 A G 6: 92,001,543 (GRCm39) T755A probably benign Het
Fpgt G T 3: 154,793,655 (GRCm39) T124K probably damaging Het
Gnl2 G A 4: 124,941,405 (GRCm39) probably null Het
Got1 A T 19: 43,504,284 (GRCm39) S46T probably benign Het
Hbb-bt G T 7: 103,463,070 (GRCm39) H3N probably benign Het
Ikbke C T 1: 131,199,838 (GRCm39) probably benign Het
Il2rb A G 15: 78,365,897 (GRCm39) S467P probably benign Het
Kcnma1 A G 14: 23,580,367 (GRCm39) probably benign Het
Ltbp2 T C 12: 84,876,973 (GRCm39) N391D probably damaging Het
Npr3 A T 15: 11,858,804 (GRCm39) I360N probably damaging Het
Nradd G A 9: 110,451,237 (GRCm39) P44S possibly damaging Het
Or5m10 G T 2: 85,717,711 (GRCm39) C189F probably damaging Het
Or7h8 G A 9: 20,123,755 (GRCm39) V37I possibly damaging Het
Pcdh17 A G 14: 84,770,537 (GRCm39) E1005G possibly damaging Het
Pcdhb11 A G 18: 37,555,344 (GRCm39) T225A possibly damaging Het
Pja2 T C 17: 64,604,821 (GRCm39) D454G probably benign Het
Pon3 T C 6: 5,221,670 (GRCm39) Y320C probably damaging Het
Prl2a1 A G 13: 27,990,261 (GRCm39) D70G probably damaging Het
Proc T A 18: 32,260,472 (GRCm39) T218S probably benign Het
Proz G T 8: 13,116,913 (GRCm39) G155V probably damaging Het
Rab11fip3 T C 17: 26,286,977 (GRCm39) E392G possibly damaging Het
Rab3gap2 C T 1: 184,999,220 (GRCm39) R976* probably null Het
Shisa2 G A 14: 59,867,435 (GRCm39) C229Y probably damaging Het
Slc2a5 T C 4: 150,226,675 (GRCm39) V379A probably damaging Het
Slc31a2 A T 4: 62,214,197 (GRCm39) K47N probably damaging Het
Sult2a6 G A 7: 13,987,411 (GRCm39) T88I probably benign Het
Thumpd3 C A 6: 113,036,927 (GRCm39) N275K possibly damaging Het
Tnks2 T C 19: 36,849,990 (GRCm39) probably null Het
Tube1 G A 10: 39,011,041 (GRCm39) probably benign Het
Umodl1 T A 17: 31,192,742 (GRCm39) Y290N probably damaging Het
Usp34 G A 11: 23,402,661 (GRCm39) E726K probably damaging Het
Vmn2r84 T A 10: 130,229,935 (GRCm39) D59V probably benign Het
Vps11 T A 9: 44,267,516 (GRCm39) probably benign Het
Wdr19 T C 5: 65,385,912 (GRCm39) Y631H probably benign Het
Wdr62 G A 7: 29,957,526 (GRCm39) H88Y probably damaging Het
Wdr93 A T 7: 79,402,253 (GRCm39) N184I probably damaging Het
Wnk4 T A 11: 101,156,240 (GRCm39) F473Y probably damaging Het
Zbtb16 A G 9: 48,568,483 (GRCm39) W661R probably damaging Het
Other mutations in Tbc1d14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Tbc1d14 APN 5 36,700,544 (GRCm39) nonsense probably null
IGL01759:Tbc1d14 APN 5 36,728,913 (GRCm39) missense probably damaging 1.00
IGL01939:Tbc1d14 APN 5 36,665,781 (GRCm39) unclassified probably benign
IGL02064:Tbc1d14 APN 5 36,665,019 (GRCm39) nonsense probably null
IGL02250:Tbc1d14 APN 5 36,728,863 (GRCm39) missense probably damaging 1.00
IGL02370:Tbc1d14 APN 5 36,652,562 (GRCm39) missense possibly damaging 0.68
IGL03088:Tbc1d14 APN 5 36,682,308 (GRCm39) missense probably damaging 1.00
R0408:Tbc1d14 UTSW 5 36,728,643 (GRCm39) missense possibly damaging 0.83
R1863:Tbc1d14 UTSW 5 36,665,037 (GRCm39) missense probably damaging 1.00
R2007:Tbc1d14 UTSW 5 36,728,718 (GRCm39) missense possibly damaging 0.78
R2064:Tbc1d14 UTSW 5 36,680,274 (GRCm39) nonsense probably null
R2266:Tbc1d14 UTSW 5 36,700,561 (GRCm39) missense possibly damaging 0.52
R2267:Tbc1d14 UTSW 5 36,700,561 (GRCm39) missense possibly damaging 0.52
R2268:Tbc1d14 UTSW 5 36,700,561 (GRCm39) missense possibly damaging 0.52
R2269:Tbc1d14 UTSW 5 36,700,561 (GRCm39) missense possibly damaging 0.52
R3955:Tbc1d14 UTSW 5 36,700,559 (GRCm39) nonsense probably null
R4222:Tbc1d14 UTSW 5 36,650,452 (GRCm39) missense probably benign
R4618:Tbc1d14 UTSW 5 36,687,725 (GRCm39) intron probably benign
R4780:Tbc1d14 UTSW 5 36,728,600 (GRCm39) intron probably benign
R4817:Tbc1d14 UTSW 5 36,729,175 (GRCm39) missense probably damaging 1.00
R5315:Tbc1d14 UTSW 5 36,664,932 (GRCm39) missense probably damaging 0.99
R5521:Tbc1d14 UTSW 5 36,677,896 (GRCm39) missense probably damaging 0.99
R5590:Tbc1d14 UTSW 5 36,682,389 (GRCm39) missense probably damaging 1.00
R6190:Tbc1d14 UTSW 5 36,729,228 (GRCm39) missense possibly damaging 0.58
R6502:Tbc1d14 UTSW 5 36,677,825 (GRCm39) missense possibly damaging 0.62
R6748:Tbc1d14 UTSW 5 36,652,598 (GRCm39) missense probably damaging 0.96
R7089:Tbc1d14 UTSW 5 36,669,884 (GRCm39) missense probably benign 0.03
R7667:Tbc1d14 UTSW 5 36,652,382 (GRCm39) missense probably damaging 1.00
R8020:Tbc1d14 UTSW 5 36,729,187 (GRCm39) missense probably benign 0.29
R8389:Tbc1d14 UTSW 5 36,687,792 (GRCm39) intron probably benign
R8868:Tbc1d14 UTSW 5 36,728,888 (GRCm39) missense probably damaging 1.00
R8917:Tbc1d14 UTSW 5 36,676,682 (GRCm39) missense probably damaging 0.97
R9280:Tbc1d14 UTSW 5 36,680,268 (GRCm39) intron probably benign
R9377:Tbc1d14 UTSW 5 36,662,472 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07