Incidental Mutation 'R2267:Tbc1d14'
ID242109
Institutional Source Beutler Lab
Gene Symbol Tbc1d14
Ensembl Gene ENSMUSG00000029192
Gene NameTBC1 domain family, member 14
Synonyms2810413P16Rik, D5Ertd110e
MMRRC Submission 040267-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2267 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location36490604-36593276 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36543217 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 269 (L269P)
Ref Sequence ENSEMBL: ENSMUSP00000115467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031094] [ENSMUST00000124036] [ENSMUST00000130417] [ENSMUST00000136189] [ENSMUST00000140179] [ENSMUST00000140607] [ENSMUST00000146430]
Predicted Effect probably benign
Transcript: ENSMUST00000031094
AA Change: L269P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: L269P

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: L289P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: L289P

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
AA Change: L289P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: L289P

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: L269P

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
AA Change: L269P

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: ENSMUST00000140179
SMART Domains Protein: ENSMUSP00000116735
Gene: ENSMUSG00000029192

DomainStartEndE-ValueType
low complexity region 174 189 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140607
AA Change: L269P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: L269P

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: ENSMUST00000146252
Predicted Effect probably benign
Transcript: ENSMUST00000146430
AA Change: L269P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: L269P

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: ENSMUST00000156658
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
Meta Mutation Damage Score 0.0749 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (108/110)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578C19Rik A G X: 18,423,687 S179P possibly damaging Het
Aadac T A 3: 60,037,316 D136E probably damaging Het
Abca16 A G 7: 120,431,160 D165G probably benign Het
Abca8b G A 11: 109,955,148 T820M probably benign Het
Acot2 C T 12: 83,990,560 A216V probably damaging Het
Agap2 T A 10: 127,082,428 probably benign Het
Ak7 T C 12: 105,747,214 V419A probably benign Het
Apmap A G 2: 150,588,901 probably null Het
Apob T C 12: 8,015,475 F4115S possibly damaging Het
Cachd1 T A 4: 100,949,069 probably benign Het
Ccdc39 T A 3: 33,815,484 E731D probably damaging Het
Ces2a A T 8: 104,740,190 I65F probably benign Het
Commd8 A G 5: 72,165,422 W51R probably damaging Het
D2hgdh C T 1: 93,835,435 A314V probably damaging Het
Dcun1d4 T A 5: 73,481,275 probably benign Het
Dgcr14 T C 16: 17,909,995 T107A probably damaging Het
Dgke T A 11: 89,052,469 E231D probably benign Het
Dhrs9 A G 2: 69,392,853 probably benign Het
Dhx30 C T 9: 110,087,034 G662R probably damaging Het
Dnah7b T A 1: 46,233,915 M2401K probably damaging Het
Dnmt3a T A 12: 3,897,551 probably null Het
Dst C T 1: 34,295,466 T4874I probably damaging Het
Eef2kmt G A 16: 5,255,940 probably benign Het
Etfa A T 9: 55,486,731 L212Q probably damaging Het
Exosc5 T C 7: 25,664,384 L107P possibly damaging Het
Fam117b T C 1: 59,913,630 L156P probably damaging Het
Fam186b T G 15: 99,285,643 D40A probably damaging Het
Fga T C 3: 83,032,950 L637P probably damaging Het
Foxn4 T C 5: 114,255,601 T486A probably damaging Het
Gcc1 A G 6: 28,418,499 S612P probably benign Het
Gjd3 C T 11: 98,982,401 V206M probably damaging Het
Gpam A T 19: 55,072,710 probably null Het
Gpc6 A T 14: 117,888,520 probably null Het
Gphb5 C G 12: 75,412,946 V92L probably benign Het
Grid2ip C T 5: 143,386,092 P690L probably benign Het
Gsdmc T C 15: 63,776,798 E429G probably benign Het
Heatr5a T C 12: 51,893,745 D1444G possibly damaging Het
Hist1h2bh T C 13: 23,542,992 K121E possibly damaging Het
Hmcn1 T C 1: 150,599,010 S4709G probably benign Het
Hr A T 14: 70,558,107 D393V probably benign Het
Ido2 T C 8: 24,535,252 Y253C probably damaging Het
Itgal A G 7: 127,306,701 I352V possibly damaging Het
Itih4 A G 14: 30,892,428 D445G probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 probably benign Het
Kcnt2 G A 1: 140,573,683 probably null Het
Klk1b21 T C 7: 44,104,439 I49T possibly damaging Het
Klrb1 A T 6: 128,722,974 S25T probably damaging Het
L3mbtl3 C T 10: 26,331,857 W321* probably null Het
Lama2 T A 10: 26,992,936 I2838F probably damaging Het
Lrrtm1 C A 6: 77,244,013 A151E probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,185,261 probably null Het
Magi3 G A 3: 104,021,066 probably benign Het
Mamdc2 A T 19: 23,303,903 probably benign Het
Mcc T C 18: 44,519,541 D272G probably damaging Het
Mgst3 T A 1: 167,373,799 T106S probably benign Het
Mink1 G A 11: 70,601,724 probably null Het
Mlh3 G T 12: 85,260,811 H1181N possibly damaging Het
Mmrn2 A G 14: 34,399,492 K773R probably benign Het
Mrc2 G A 11: 105,348,431 probably null Het
Mro T C 18: 73,873,297 I104T probably benign Het
Mtbp G A 15: 55,569,160 probably null Het
Mtss1l A G 8: 110,728,730 K92E possibly damaging Het
Mybphl A G 3: 108,365,001 E2G probably damaging Het
Nbeal1 T A 1: 60,330,878 probably benign Het
Neurod2 C A 11: 98,327,756 C194F probably damaging Het
Nr4a2 T A 2: 57,112,006 D145V possibly damaging Het
Ntmt1 C A 2: 30,820,460 N58K probably benign Het
Nup205 T C 6: 35,241,349 S1819P possibly damaging Het
Obsl1 T C 1: 75,505,698 H176R probably damaging Het
Olfr583 G A 7: 103,052,137 V280I probably benign Het
Olfr836 A T 9: 19,121,441 H162L probably benign Het
Olfr926 A G 9: 38,878,063 T296A probably benign Het
P2ry13 T C 3: 59,210,028 M110V probably damaging Het
P2ry14 T C 3: 59,115,571 N165S probably damaging Het
Phka1 A G X: 102,541,110 probably benign Het
Plxnd1 A G 6: 115,962,743 V1425A probably benign Het
Ppp2ca G A 11: 52,118,086 G138R probably damaging Het
Ptpn12 A T 5: 20,998,411 N456K probably damaging Het
Scarb1 A T 5: 125,287,375 S97T possibly damaging Het
Scyl1 C T 19: 5,761,721 D440N possibly damaging Het
Sema5a C A 15: 32,574,919 T391K probably benign Het
Sipa1l3 T A 7: 29,399,602 N414I probably damaging Het
Skint6 T C 4: 112,842,822 probably null Het
Slc35a3 T C 3: 116,673,636 K325E possibly damaging Het
Spag17 C A 3: 100,061,866 probably null Het
Spib T A 7: 44,528,924 M141L probably benign Het
Srebf1 A G 11: 60,207,147 S44P probably damaging Het
Styk1 T C 6: 131,312,576 E25G probably benign Het
Taar8b T C 10: 24,091,372 N308S probably damaging Het
Taf15 T G 11: 83,497,262 S200R probably damaging Het
Tanc1 G A 2: 59,837,219 probably null Het
Tas2r134 A G 2: 51,628,237 T243A probably benign Het
Tatdn1 A T 15: 58,905,752 M218K probably damaging Het
Tbx1 T C 16: 18,581,994 probably null Het
Tgfbr3l A G 8: 4,250,506 E228G probably benign Het
Tmem233 G C 5: 116,051,458 probably benign Het
Tmprss11d A G 5: 86,373,349 Y2H probably benign Het
Trps1 G A 15: 50,822,398 R544C probably damaging Het
Ttc22 T C 4: 106,639,085 V444A possibly damaging Het
Ttc28 A G 5: 111,226,003 T1071A possibly damaging Het
Tymp A T 15: 89,373,808 V378D probably damaging Het
Ube2j1 T A 4: 33,049,943 F257I possibly damaging Het
Vmn2r18 T C 5: 151,586,662 E82G probably damaging Het
Wwp1 T C 4: 19,638,618 D575G 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
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
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
R8868:Tbc1d14 UTSW 5 36571544 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCATGCTACAATCTGTAAAGAGG -3'
(R):5'- CATTGCACAGAGTCCCTCTC -3'

Sequencing Primer
(F):5'- GAGAGTTAGATCCCAGCACACACTG -3'
(R):5'- GAGTCCCTCTCAAAGCAAAGTTTG -3'
Posted On2014-10-16