Incidental Mutation 'R7089:Tbc1d14'
ID550069
Institutional Source Beutler Lab
Gene Symbol Tbc1d14
Ensembl Gene ENSMUSG00000029192
Gene NameTBC1 domain family, member 14
Synonyms2810413P16Rik, D5Ertd110e
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7089 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location36490604-36593276 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36512540 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 455 (F455I)
Ref Sequence ENSEMBL: ENSMUSP00000121816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031094] [ENSMUST00000124036] [ENSMUST00000126077] [ENSMUST00000130417] [ENSMUST00000136189] [ENSMUST00000140607] [ENSMUST00000146430] [ENSMUST00000150813] [ENSMUST00000171385]
Predicted Effect probably benign
Transcript: ENSMUST00000031094
AA Change: F455I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: F455I

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: ENSMUST00000124036
AA Change: F475I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: F475I

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: ENSMUST00000126077
AA Change: F174I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192
AA Change: F174I

DomainStartEndE-ValueType
Blast:TBC 35 94 5e-9 BLAST
TBC 118 354 1.49e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130417
AA Change: F475I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: F475I

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 possibly damaging
Transcript: ENSMUST00000136189
AA Change: F455I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
AA Change: F455I

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 benign
Transcript: ENSMUST00000140607
AA Change: F455I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: F455I

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: ENSMUST00000146430
AA Change: F455I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: F455I

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: ENSMUST00000150813
AA Change: F174I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115926
Gene: ENSMUSG00000029192
AA Change: F174I

DomainStartEndE-ValueType
Blast:TBC 35 94 3e-9 BLAST
TBC 118 305 1.08e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171385
AA Change: F174I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192
AA Change: F174I

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500009C09Rik A T 15: 82,252,573 probably benign Het
1700010I14Rik T C 17: 9,008,095 V494A probably benign Het
1700011I03Rik C T 18: 57,591,987 T96I probably benign Het
1700017B05Rik A T 9: 57,258,758 L111Q probably damaging Het
Adgrf4 T G 17: 42,666,533 I640L possibly damaging Het
Afdn T G 17: 13,890,812 probably null Het
Ammecr1l A T 18: 31,761,824 probably benign Het
Aox2 A T 1: 58,336,649 Y879F probably benign Het
Arhgap45 G A 10: 80,026,347 probably null Het
Arpp21 G T 9: 112,126,446 H542N probably benign Het
Cdt1 G A 8: 122,571,980 R452Q probably damaging Het
Clcn7 C T 17: 25,153,693 H149Y Het
Clpp T G 17: 56,990,421 W32G probably benign Het
Dnmt1 G T 9: 20,908,489 L1572M probably damaging Het
Drd3 G T 16: 43,807,378 R128S probably damaging Het
Elmo2 A T 2: 165,304,929 F243I possibly damaging Het
Endou G A 15: 97,720,245 P128L probably benign Het
Fat3 A G 9: 15,996,918 M2596T probably benign Het
Fbxl16 A G 17: 25,816,729 K100R probably benign Het
Fbxo10 A G 4: 45,062,230 S99P possibly damaging Het
Fez1 A T 9: 36,867,703 R225S probably benign Het
Gm14326 A T 2: 177,946,671 H177Q probably damaging Het
Gm32742 T A 9: 51,143,246 M1360L probably benign Het
Hspg2 T C 4: 137,544,366 V2481A possibly damaging Het
Ifnl3 A G 7: 28,523,858 K101E probably benign Het
Il15 A T 8: 82,337,575 S77R probably damaging Het
Ints13 T C 6: 146,574,718 D95G probably damaging Het
Kcmf1 G A 6: 72,842,946 P357S probably benign Het
Kcmf1 G T 6: 72,848,306 T268K probably benign Het
Kmt2d A T 15: 98,850,272 I3057N unknown Het
Lgi2 A G 5: 52,538,490 F376L probably damaging Het
Lrig3 T G 10: 125,997,124 L289R probably damaging Het
Mafk A G 5: 139,800,121 S25G probably benign Het
Mpz T C 1: 171,159,635 probably null Het
Nalcn A C 14: 123,278,349 I1680R probably benign Het
Olfr154 C T 2: 85,664,174 V87M possibly damaging Het
Olfr270 C T 4: 52,971,470 P283L probably damaging Het
Olfr486 A T 7: 108,172,494 N83K probably benign Het
Olfr994 T A 2: 85,430,558 K90N probably benign Het
Otof A C 5: 30,371,568 I1827S possibly damaging Het
Oxgr1 A G 14: 120,022,202 Y198H probably damaging Het
P3h2 T A 16: 25,965,809 N645I probably damaging Het
Pbld2 A G 10: 63,053,912 T158A probably benign Het
Pdgfrb C T 18: 61,073,243 R608C probably damaging Het
Pdia5 T C 16: 35,407,679 T408A probably benign Het
Pik3cg A G 12: 32,176,846 V1014A probably benign Het
Prpf8 A G 11: 75,508,548 T2180A probably damaging Het
Rabgap1l A T 1: 160,724,172 Y245* probably null Het
Rerg T C 6: 137,067,035 T28A possibly damaging Het
Rhcg A G 7: 79,599,468 I335T probably damaging Het
Rmnd1 C T 10: 4,403,873 V78I probably damaging Het
Ryr2 A C 13: 11,649,776 V3547G probably benign Het
Scnn1a C A 6: 125,337,807 Q324K probably benign Het
Serpinb6e G A 13: 33,832,715 T345I probably damaging Het
Smchd1 T C 17: 71,361,960 T1687A probably benign Het
Speer4f2 A C 5: 17,376,663 H201P Het
Spef2 G A 15: 9,725,171 R167C probably damaging Het
Srp68 A G 11: 116,271,907 probably null Het
Tet3 A G 6: 83,455,024 V10A possibly damaging Het
Tlr3 A T 8: 45,397,773 S696T probably benign Het
Tmem63b T C 17: 45,667,783 N300S probably benign Het
Tmprss11g T C 5: 86,489,291 I328M probably damaging Het
Tpm3 C T 3: 90,072,722 probably benign Het
Trim28 T A 7: 13,024,906 L63Q probably damaging Het
Unc5b G A 10: 60,777,486 R324C probably damaging Het
Vmn1r236 T A 17: 21,286,942 N107K possibly damaging Het
Vmn2r88 A G 14: 51,418,643 T770A Het
Zcchc2 C A 1: 106,030,481 P894Q probably damaging Het
Zfhx2 A G 14: 55,065,772 V1585A probably benign 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
IGL02064:Tbc1d14 APN 5 36507675 nonsense probably null
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
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
R8868:Tbc1d14 UTSW 5 36571544 missense probably damaging 1.00
R8917:Tbc1d14 UTSW 5 36519338 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ATCTAGATGCACTGTCCCTGAC -3'
(R):5'- ATTCTGCACTTGCCATGCAC -3'

Sequencing Primer
(F):5'- GCACTGTCCCTGACTCCCAC -3'
(R):5'- TTGCCATGCACACCTTATGAAGG -3'
Posted On2019-05-15