Incidental Mutation 'R4780:Tbc1d14'
ID 366404
Institutional Source Beutler Lab
Gene Symbol Tbc1d14
Ensembl Gene ENSMUSG00000029192
Gene Name TBC1 domain family, member 14
Synonyms 2810413P16Rik, D5Ertd110e
MMRRC Submission 041993-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4780 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 36647948-36743611 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 36728600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031094] [ENSMUST00000124036] [ENSMUST00000130417] [ENSMUST00000136189] [ENSMUST00000136490] [ENSMUST00000139182] [ENSMUST00000144997] [ENSMUST00000147603] [ENSMUST00000140607] [ENSMUST00000146430] [ENSMUST00000140179]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031094
SMART Domains Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192

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
SMART Domains Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192

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: ENSMUST00000130417
SMART Domains Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192

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 benign
Transcript: ENSMUST00000136490
Predicted Effect probably benign
Transcript: ENSMUST00000139182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156658
Predicted Effect probably benign
Transcript: ENSMUST00000144997
Predicted Effect probably benign
Transcript: ENSMUST00000147603
Predicted Effect probably benign
Transcript: ENSMUST00000140607
SMART Domains Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192

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
SMART Domains Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192

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: ENSMUST00000140179
SMART Domains Protein: ENSMUSP00000116735
Gene: ENSMUSG00000029192

DomainStartEndE-ValueType
low complexity region 174 189 N/A INTRINSIC
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (107/109)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,131 (GRCm39) N107D probably benign Het
4833413E03Rik A C 17: 31,777,738 (GRCm39) noncoding transcript Het
4931429L15Rik G T 9: 46,220,144 (GRCm39) H129Q possibly damaging Het
A730018C14Rik A G 12: 112,382,069 (GRCm39) noncoding transcript Het
Abcc6 T A 7: 45,646,115 (GRCm39) K791N probably benign Het
Adcy4 T G 14: 56,012,493 (GRCm39) Q550P probably benign Het
Add3 C A 19: 53,223,223 (GRCm39) A325E possibly damaging Het
Agbl4 T A 4: 111,514,528 (GRCm39) I513N possibly damaging Het
Agfg1 C A 1: 82,864,108 (GRCm39) T392K probably damaging Het
Akna C A 4: 63,297,491 (GRCm39) M854I probably benign Het
Ankrd44 T C 1: 54,802,916 (GRCm39) N194S probably benign Het
Anks1b A G 10: 89,709,594 (GRCm39) K21E probably damaging Het
Ap1s3 A G 1: 79,586,889 (GRCm39) F154L probably benign Het
Apbb2 T A 5: 66,520,160 (GRCm39) N477I probably damaging Het
Apobec3 T C 15: 79,783,225 (GRCm39) C101R possibly damaging Het
Arnt G T 3: 95,395,696 (GRCm39) V410F probably damaging Het
Arsg G A 11: 109,424,839 (GRCm39) R270H possibly damaging Het
B3gnt7 T A 1: 86,232,992 (GRCm39) D79E probably damaging Het
Cd44 G T 2: 102,691,910 (GRCm39) A126D probably damaging Het
Cd69 A G 6: 129,248,318 (GRCm39) I56T probably damaging Het
Cep120 G A 18: 53,857,608 (GRCm39) P286S probably benign Het
Ces2a T C 8: 105,463,840 (GRCm39) F184S probably damaging Het
Chrng A G 1: 87,135,246 (GRCm39) N185S probably damaging Het
Cldn6 A T 17: 23,900,221 (GRCm39) M62L probably benign Het
Cntn6 T A 6: 104,822,745 (GRCm39) N765K probably damaging Het
Cspg4b A G 13: 113,454,392 (GRCm39) Y146C probably damaging Het
Ctnnal1 T C 4: 56,847,857 (GRCm39) D94G probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Depdc1a A G 3: 159,232,343 (GRCm39) N698S probably benign Het
Dnah2 A T 11: 69,364,697 (GRCm39) I1986N probably damaging Het
Dnah7b A G 1: 46,392,174 (GRCm39) E3845G probably benign Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Dync1h1 T C 12: 110,627,630 (GRCm39) Y4047H probably damaging Het
E130308A19Rik C T 4: 59,691,057 (GRCm39) P297L probably benign Het
E2f5 A G 3: 14,652,379 (GRCm39) T72A probably benign Het
Ephb6 G T 6: 41,593,073 (GRCm39) R437L probably damaging Het
Erbb4 T C 1: 68,337,473 (GRCm39) H615R probably damaging Het
Erbin T C 13: 104,020,714 (GRCm39) T82A probably damaging Het
Eri2 T C 7: 119,384,903 (GRCm39) N533D probably benign Het
Fkbp9 A G 6: 56,827,701 (GRCm39) N174S probably damaging Het
Fsbp C T 4: 11,583,709 (GRCm39) T136I possibly damaging Het
Fubp3 C A 2: 31,473,223 (GRCm39) D47E probably damaging Het
Gm21850 G A 2: 153,898,419 (GRCm39) noncoding transcript Het
Gm5141 T A 13: 62,922,764 (GRCm39) Y135F unknown Het
Gm7353 T A 7: 3,160,725 (GRCm39) noncoding transcript Het
Gm9925 T C 18: 74,198,344 (GRCm39) probably benign Het
Greb1l T C 18: 10,541,792 (GRCm39) S1180P probably benign Het
H2ac11 G A 13: 22,227,079 (GRCm39) Q7* probably null Het
Ift70a2 A C 2: 75,807,920 (GRCm39) C197W probably benign Het
Kiz A G 2: 146,731,166 (GRCm39) T192A possibly damaging Het
Klhl24 T A 16: 19,925,708 (GRCm39) C79S probably damaging Het
Map3k11 A G 19: 5,740,966 (GRCm39) H231R probably damaging Het
Mbd4 C A 6: 115,826,345 (GRCm39) R194S probably benign Het
Mettl21e A C 1: 44,250,303 (GRCm39) S34R probably benign Het
Mrps5 T C 2: 127,440,161 (GRCm39) V245A probably benign Het
Mtrf1 T C 14: 79,639,128 (GRCm39) Y87H probably benign Het
Myh15 T C 16: 48,940,420 (GRCm39) I790T probably benign Het
Necab1 T G 4: 14,989,248 (GRCm39) I176L probably benign Het
Nfkb2 T A 19: 46,298,361 (GRCm39) L555Q probably damaging Het
Nhlrc3 T A 3: 53,365,988 (GRCm39) E168D probably benign Het
Nlrp5 T A 7: 23,135,203 (GRCm39) C949S probably damaging Het
Nup155 C A 15: 8,187,187 (GRCm39) A1372E probably benign Het
Nynrin G T 14: 56,100,720 (GRCm39) R170L probably damaging Het
Ogfrl1 T A 1: 23,409,402 (GRCm39) N275Y probably damaging Het
Olr1 A T 6: 129,465,839 (GRCm39) S56T probably damaging Het
Or4k52 A G 2: 111,611,190 (GRCm39) D175G probably damaging Het
Or5aq1 C T 2: 86,966,221 (GRCm39) S148N probably damaging Het
Or5b121 A G 19: 13,507,319 (GRCm39) N138S probably benign Het
Or8b48 A G 9: 38,493,265 (GRCm39) T231A possibly damaging Het
Ovol2 A T 2: 144,173,203 (GRCm39) probably benign Het
Pcdha6 A T 18: 37,102,906 (GRCm39) I700F probably damaging Het
Prkcz C T 4: 155,374,159 (GRCm39) V86M probably damaging Het
Ptpn13 A G 5: 103,734,639 (GRCm39) T2124A probably benign Het
Ranbp3 G T 17: 56,980,346 (GRCm39) probably benign Het
Rapgef2 A G 3: 79,077,076 (GRCm39) probably benign Het
Rbl1 A G 2: 157,016,724 (GRCm39) V625A probably benign Het
Rbm38 G T 2: 172,863,944 (GRCm39) G38C probably damaging Het
Reg1 T G 6: 78,403,333 (GRCm39) F7C possibly damaging Het
Retnlg A T 16: 48,694,697 (GRCm39) Q115L possibly damaging Het
Rhobtb1 G A 10: 69,105,983 (GRCm39) V183I probably benign Het
Rims1 T C 1: 22,361,329 (GRCm39) Q1186R probably damaging Het
Ryr1 A G 7: 28,794,522 (GRCm39) F1246L possibly damaging Het
Samm50 A G 15: 84,094,811 (GRCm39) N401S possibly damaging Het
Scn3a T A 2: 65,336,537 (GRCm39) I690F probably damaging Het
Sdk1 A G 5: 141,944,993 (GRCm39) D304G probably damaging Het
Skint6 T C 4: 113,093,594 (GRCm39) Y183C probably damaging Het
Slamf1 A T 1: 171,604,829 (GRCm39) T200S probably benign Het
Slc34a2 C T 5: 53,226,793 (GRCm39) R639C probably damaging Het
Smap1 A T 1: 23,892,517 (GRCm39) M149K probably benign Het
Sorcs1 T C 19: 50,132,419 (GRCm39) probably benign Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Spata13 G A 14: 60,991,356 (GRCm39) W366* probably null Het
Spata31e4 C A 13: 50,855,116 (GRCm39) S251R probably damaging Het
Strip1 G A 3: 107,534,314 (GRCm39) T136I probably benign Het
Tacr1 A T 6: 82,534,053 (GRCm39) T360S probably benign Het
Tcaf2 T C 6: 42,604,996 (GRCm39) Y596C probably damaging Het
Tspoap1 C T 11: 87,669,269 (GRCm39) T1454I possibly damaging Het
Ttn A T 2: 76,744,927 (GRCm39) M5374K probably benign Het
Uts2r G A 11: 121,051,705 (GRCm39) V190I possibly damaging Het
Vmn1r181 A G 7: 23,684,008 (GRCm39) T158A possibly damaging Het
Wdr35 A T 12: 9,068,150 (GRCm39) T778S probably benign Het
Xrn1 A T 9: 95,856,797 (GRCm39) probably benign Het
Zfp35 A T 18: 24,136,326 (GRCm39) K223N probably damaging Het
Zfp764 T C 7: 127,003,943 (GRCm39) Q396R probably benign Het
Zfyve1 T C 12: 83,605,421 (GRCm39) Y11C 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
IGL01977:Tbc1d14 APN 5 36,662,381 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCAAGACTATTCCCGTGAGC -3'
(R):5'- TGACCCTGGAGAATGATGATGAC -3'

Sequencing Primer
(F):5'- AGACTATTCCCGTGAGCCAAGG -3'
(R):5'- GATGATGACCCACAGTTTACTGACG -3'
Posted On 2015-12-21