Incidental Mutation 'R6190:Tbc1d14'
ID 502459
Institutional Source Beutler Lab
Gene Symbol Tbc1d14
Ensembl Gene ENSMUSG00000029192
Gene Name TBC1 domain family, member 14
Synonyms 2810413P16Rik, D5Ertd110e
MMRRC Submission 044330-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6190 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 36647948-36743611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36729228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 66 (D66G)
Ref Sequence ENSEMBL: ENSMUSP00000117997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031094] [ENSMUST00000124036] [ENSMUST00000130417] [ENSMUST00000136189] [ENSMUST00000136490] [ENSMUST00000139182] [ENSMUST00000140179] [ENSMUST00000146430] [ENSMUST00000140607] [ENSMUST00000144997] [ENSMUST00000147603]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031094
AA Change: D46G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: D46G

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: D66G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: D66G

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: D66G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: D66G

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
AA Change: D46G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
AA Change: D46G

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 possibly damaging
Transcript: ENSMUST00000136490
AA Change: D66G

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000139182
AA Change: D66G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000140179
AA Change: D46G

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116735
Gene: ENSMUSG00000029192
AA Change: D46G

DomainStartEndE-ValueType
low complexity region 174 189 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146430
AA Change: D46G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: D46G

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: ENSMUST00000140607
AA Change: D46G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: D46G

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: ENSMUST00000144997
AA Change: D46G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150733
Predicted Effect probably benign
Transcript: ENSMUST00000147603
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,423,472 (GRCm39) L224Q probably damaging Het
Abcc5 A G 16: 20,211,529 (GRCm39) M478T probably benign Het
Acot10 T C 15: 20,665,871 (GRCm39) D290G possibly damaging Het
Actr3b A G 5: 26,036,688 (GRCm39) Q167R probably benign Het
Actr8 C T 14: 29,713,674 (GRCm39) R565* probably null Het
Adcy7 C T 8: 89,052,358 (GRCm39) probably null Het
Adgrb3 C T 1: 25,459,728 (GRCm39) V576I probably benign Het
Adgrv1 T A 13: 81,607,882 (GRCm39) probably null Het
Adgrv1 A T 13: 81,672,898 (GRCm39) probably null Het
Ak2 A G 4: 128,892,976 (GRCm39) D45G probably damaging Het
Ak9 C G 10: 41,298,403 (GRCm39) Q1489E unknown Het
Ak9 A T 10: 41,298,404 (GRCm39) Q1489L unknown Het
Akap12 C A 10: 4,306,268 (GRCm39) S1026Y possibly damaging Het
Ankhd1 T G 18: 36,744,862 (GRCm39) S601A possibly damaging Het
Apba2 A T 7: 64,389,628 (GRCm39) E508V probably damaging Het
Arhgap18 A G 10: 26,722,031 (GRCm39) M1V probably null Het
Arhgef10l G A 4: 140,270,073 (GRCm39) T865M possibly damaging Het
Bdh1 T A 16: 31,268,715 (GRCm39) V150D probably damaging Het
Becn1 A G 11: 101,186,200 (GRCm39) C135R probably damaging Het
C2cd4d A G 3: 94,271,226 (GRCm39) D164G probably benign Het
Cacna1e C A 1: 154,362,316 (GRCm39) V424F possibly damaging Het
Capn7 C A 14: 31,085,560 (GRCm39) T511K probably benign Het
Cdc5l G A 17: 45,718,943 (GRCm39) P558S probably benign Het
Cep170 T A 1: 176,609,975 (GRCm39) H112L probably damaging Het
Cfap61 C T 2: 145,789,053 (GRCm39) T19M probably benign Het
Clca3a1 A G 3: 144,463,821 (GRCm39) V152A probably benign Het
Cnot10 G T 9: 114,461,791 (GRCm39) T24K probably damaging Het
Cntnap5b T A 1: 100,306,800 (GRCm39) I839N possibly damaging Het
Cyp4f13 A T 17: 33,148,847 (GRCm39) D299E probably damaging Het
Dclk1 A G 3: 55,395,232 (GRCm39) E128G probably damaging Het
Dennd1b T C 1: 139,061,413 (GRCm39) I365T probably damaging Het
Dgcr8 T C 16: 18,102,274 (GRCm39) T3A probably damaging Het
Dld A C 12: 31,394,847 (GRCm39) I58S probably damaging Het
Dlg5 T A 14: 24,240,506 (GRCm39) R248S probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Faf1 C T 4: 109,719,012 (GRCm39) L373F probably damaging Het
Fam171b C T 2: 83,707,042 (GRCm39) T304I probably benign Het
Fcgrt A T 7: 44,751,622 (GRCm39) probably null Het
Gimap9 T C 6: 48,655,285 (GRCm39) W291R probably damaging Het
Gm4847 G A 1: 166,457,892 (GRCm39) A487V probably damaging Het
Gria4 T A 9: 4,420,199 (GRCm39) I888F probably benign Het
Hapln2 T A 3: 87,930,600 (GRCm39) I224F probably damaging Het
Herc1 T G 9: 66,283,663 (GRCm39) L332R possibly damaging Het
Hmgxb4 T C 8: 75,749,927 (GRCm39) V481A probably benign Het
Htr1d T C 4: 136,170,109 (GRCm39) S113P probably damaging Het
Ift81 T C 5: 122,689,163 (GRCm39) Q651R probably benign Het
Il17ra T C 6: 120,452,234 (GRCm39) S199P probably damaging Het
Itih2 T C 2: 10,103,318 (GRCm39) N723S probably benign Het
Jak1 A T 4: 101,032,325 (GRCm39) V427E probably damaging Het
Krt23 C T 11: 99,376,584 (GRCm39) D191N probably damaging Het
Lingo1 T A 9: 56,526,934 (GRCm39) I552F possibly damaging Het
Llgl2 G A 11: 115,737,812 (GRCm39) R199Q probably benign Het
Lrrc37a G T 11: 103,392,042 (GRCm39) Q1128K possibly damaging Het
Lrrc74a T C 12: 86,783,263 (GRCm39) V36A probably benign Het
M1ap T A 6: 82,980,877 (GRCm39) D254E possibly damaging Het
Mal2 C T 15: 54,434,794 (GRCm39) probably benign Het
Mbnl2 A G 14: 120,622,833 (GRCm39) T124A probably benign Het
Nfatc1 A G 18: 80,755,885 (GRCm39) S33P probably benign Het
Nfkbid A G 7: 30,125,162 (GRCm39) N253S probably damaging Het
Ngfr T A 11: 95,465,267 (GRCm39) I194F probably benign Het
Nhsl1 A G 10: 18,345,789 (GRCm39) probably benign Het
Nol9 T A 4: 152,125,691 (GRCm39) I214N possibly damaging Het
Or1o3 A G 17: 37,573,635 (GRCm39) S307P probably benign Het
Or5p56 T C 7: 107,590,307 (GRCm39) L245P probably damaging Het
Or8k3 T A 2: 86,058,578 (GRCm39) T246S possibly damaging Het
Pax3 C T 1: 78,169,186 (GRCm39) S160N possibly damaging Het
Pde3b A G 7: 114,122,267 (GRCm39) probably null Het
Pde5a A C 3: 122,522,956 (GRCm39) E21A probably benign Het
Plcxd1 A G 5: 110,250,469 (GRCm39) E270G probably damaging Het
Plxna1 T A 6: 89,333,586 (GRCm39) K348* probably null Het
Pramel34 A T 5: 93,785,937 (GRCm39) N114K probably benign Het
Prb1b T A 6: 132,289,692 (GRCm39) H44L unknown Het
Psg21 G T 7: 18,388,926 (GRCm39) D55E possibly damaging Het
Rasa1 C A 13: 85,381,814 (GRCm39) A493S probably benign Het
Raver2 A G 4: 100,990,814 (GRCm39) I396V probably benign Het
Rpa2 A G 4: 132,502,331 (GRCm39) K138E probably benign Het
Rsad1 T C 11: 94,439,062 (GRCm39) N133D probably damaging Het
Rusc1 T C 3: 88,999,188 (GRCm39) D198G probably benign Het
Samsn1 A T 16: 75,667,803 (GRCm39) Y258N probably damaging Het
Scap A G 9: 110,203,135 (GRCm39) N270D probably benign Het
Shisal2a A T 4: 108,225,052 (GRCm39) I170N probably damaging Het
Smpd4 T C 16: 17,449,877 (GRCm39) Y200H probably damaging Het
Steap2 A G 5: 5,725,881 (GRCm39) V381A probably damaging Het
Syk C T 13: 52,765,089 (GRCm39) T72I probably damaging Het
Tcp11 A G 17: 28,290,691 (GRCm39) Y223H probably benign Het
Timm9 A G 12: 71,173,124 (GRCm39) S8P probably benign Het
Tmpo T C 10: 91,000,069 (GRCm39) probably null Het
Vezf1 T C 11: 87,967,012 (GRCm39) M81T probably benign Het
Vipr1 T A 9: 121,493,719 (GRCm39) W257R probably damaging Het
Vmn1r237 G A 17: 21,534,556 (GRCm39) G93D probably damaging Het
Vmn2r6 A G 3: 64,445,424 (GRCm39) V678A probably benign Het
Vmn2r85 T C 10: 130,261,330 (GRCm39) T336A possibly damaging Het
Xpnpep3 C A 15: 81,322,300 (GRCm39) D296E probably benign Het
Zfp35 C A 18: 24,137,118 (GRCm39) H487Q probably benign Het
Zfp606 A T 7: 12,227,928 (GRCm39) Y625F probably damaging Het
Zfp677 A G 17: 21,617,530 (GRCm39) T196A possibly damaging Het
Zmym1 T C 4: 126,941,677 (GRCm39) I904V 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
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
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'- GAAGACTTCCGCACAACCTG -3'
(R):5'- TTCAAAGATGCCCAAGGGATG -3'

Sequencing Primer
(F):5'- GCATGCACTCTGGAAGGC -3'
(R):5'- CCAAGGGATGGCAATTTTGG -3'
Posted On 2018-02-27