Incidental Mutation 'R6280:Tbc1d5'
ID 507935
Institutional Source Beutler Lab
Gene Symbol Tbc1d5
Ensembl Gene ENSMUSG00000023923
Gene Name TBC1 domain family, member 5
Synonyms 1600014N05Rik
MMRRC Submission 044450-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6280 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 51040152-51486380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51089338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 614 (N614S)
Ref Sequence ENSEMBL: ENSMUSP00000153172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024717] [ENSMUST00000224528]
AlphaFold Q80XQ2
Predicted Effect probably benign
Transcript: ENSMUST00000024717
AA Change: N592S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: N592S

DomainStartEndE-ValueType
TBC 78 384 5.56e-86 SMART
low complexity region 475 492 N/A INTRINSIC
SCOP:d1lsha3 511 546 1e-3 SMART
low complexity region 556 568 N/A INTRINSIC
low complexity region 783 802 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224528
AA Change: N614S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224977
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,311,619 (GRCm39) D1930N probably benign Het
Adam8 A G 7: 139,564,720 (GRCm39) L667S probably damaging Het
Adcy4 A T 14: 56,016,500 (GRCm39) I317N probably damaging Het
Agpat3 A G 10: 78,120,872 (GRCm39) F102S probably damaging Het
Apbb2 A T 5: 66,522,325 (GRCm39) W443R probably damaging Het
BC049715 T A 6: 136,817,229 (GRCm39) Y156* probably null Het
Bpifc C T 10: 85,813,576 (GRCm39) V323I probably benign Het
Camp T G 9: 109,676,577 (GRCm39) I149L probably benign Het
Cfap20dc T G 14: 8,473,414 (GRCm38) probably null Het
Cibar2 A G 8: 120,898,858 (GRCm39) I94T possibly damaging Het
Cnih1 A G 14: 47,025,634 (GRCm39) probably null Het
Col18a1 A T 10: 76,948,323 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,724 (GRCm39) D780V probably damaging Het
Dync1i1 G A 6: 5,972,084 (GRCm39) V442I probably benign Het
Fam83g G T 11: 61,594,008 (GRCm39) S514I probably benign Het
Fbxo7 A G 10: 85,864,969 (GRCm39) N93D probably benign Het
Fgf20 G T 8: 40,734,153 (GRCm39) S76* probably null Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Fxr1 G A 3: 34,100,401 (GRCm39) probably benign Het
Gon4l T A 3: 88,798,195 (GRCm39) L800H probably damaging Het
Gpn3 T A 5: 122,512,022 (GRCm39) S33T probably benign Het
Gria4 T C 9: 4,456,072 (GRCm39) M743V probably damaging Het
Hira A G 16: 18,729,457 (GRCm39) N109D probably damaging Het
Hsd3b3 A G 3: 98,660,621 (GRCm39) probably null Het
Hsf2 T G 10: 57,387,591 (GRCm39) S370A probably benign Het
Htt T A 5: 35,028,103 (GRCm39) D1786E probably benign Het
Ifit1bl2 T A 19: 34,597,534 (GRCm39) R27S possibly damaging Het
Il17rb G A 14: 29,724,928 (GRCm39) A186V probably benign Het
Irak4 G T 15: 94,449,691 (GRCm39) E57* probably null Het
Kcnh2 T A 5: 24,536,921 (GRCm39) H221L probably benign Het
Kdm2b T C 5: 123,016,687 (GRCm39) N1149D probably damaging Het
Kif26a A G 12: 112,141,303 (GRCm39) H702R probably damaging Het
Kmt2e T C 5: 23,704,514 (GRCm39) S1236P possibly damaging Het
Krt77 T A 15: 101,773,910 (GRCm39) D248V probably damaging Het
Lgals3bp T C 11: 118,284,106 (GRCm39) N52S possibly damaging Het
Lhfpl6 T C 3: 53,167,935 (GRCm39) Y170H probably damaging Het
Lpin2 A G 17: 71,539,243 (GRCm39) probably benign Het
Lrig3 T C 10: 125,846,848 (GRCm39) I872T probably benign Het
Lrit3 T C 3: 129,582,412 (GRCm39) E525G probably damaging Het
Lrp1 T C 10: 127,425,453 (GRCm39) T726A probably benign Het
Mep1a A T 17: 43,813,283 (GRCm39) N46K probably damaging Het
Muc16 C A 9: 18,490,613 (GRCm39) probably null Het
N4bp1 A C 8: 87,579,794 (GRCm39) N669K possibly damaging Het
Nelfcd A G 2: 174,257,739 (GRCm39) D26G probably benign Het
Neu4 G A 1: 93,952,873 (GRCm39) S414N probably damaging Het
Nudt9 A G 5: 104,212,935 (GRCm39) D336G probably benign Het
Obscn C A 11: 58,954,509 (GRCm39) G3691V possibly damaging Het
Or4c52 A C 2: 89,845,393 (GRCm39) I40L possibly damaging Het
Or5t17 A G 2: 86,832,364 (GRCm39) N17S probably damaging Het
Pdgfd T A 9: 6,288,627 (GRCm39) S94T probably benign Het
Picalm A G 7: 89,826,770 (GRCm39) H290R probably benign Het
Pou2f3 A T 9: 43,050,634 (GRCm39) L242Q probably damaging Het
Pou2f3 G T 9: 43,050,635 (GRCm39) L242M probably damaging Het
Prkd3 C T 17: 79,289,360 (GRCm39) G187D probably damaging Het
Pwp1 A G 10: 85,710,326 (GRCm39) S49G probably damaging Het
Ralgapa2 A G 2: 146,184,129 (GRCm39) L1626P probably damaging Het
Resf1 T C 6: 149,228,555 (GRCm39) S534P probably damaging Het
Rin2 A G 2: 145,702,939 (GRCm39) Y545C probably damaging Het
Rwdd4a A G 8: 47,995,832 (GRCm39) T71A probably benign Het
Senp7 T C 16: 55,982,738 (GRCm39) F504L possibly damaging Het
Slc12a6 A G 2: 112,167,703 (GRCm39) T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc34a1 A G 13: 24,006,377 (GRCm39) S468G probably benign Het
Slc4a10 A G 2: 62,112,310 (GRCm39) N697S probably benign Het
Spint1 T A 2: 119,075,759 (GRCm39) V194E possibly damaging Het
Sptlc2 A T 12: 87,434,905 (GRCm39) M14K probably benign Het
Stard9 A G 2: 120,531,608 (GRCm39) K2622E probably benign Het
Tdpoz2 A T 3: 93,559,190 (GRCm39) C261S probably benign Het
Tmem150b A T 7: 4,727,373 (GRCm39) I44N probably benign Het
Ttn A G 2: 76,608,502 (GRCm39) L17807P probably damaging Het
Vcan G A 13: 89,873,492 (GRCm39) R121W probably damaging Het
Vmn2r15 T A 5: 109,441,291 (GRCm39) H189L possibly damaging Het
Vmn2r19 A G 6: 123,313,212 (GRCm39) S761G probably benign Het
Wdr11 A T 7: 129,200,830 (GRCm39) K34* probably null Het
Zfp120 A T 2: 149,959,964 (GRCm39) S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 (GRCm39) P740A probably benign Het
Other mutations in Tbc1d5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Tbc1d5 APN 17 51,120,826 (GRCm39) missense possibly damaging 0.52
IGL01370:Tbc1d5 APN 17 51,273,755 (GRCm39) missense probably benign 0.18
IGL01625:Tbc1d5 APN 17 51,224,601 (GRCm39) missense probably benign 0.27
IGL01935:Tbc1d5 APN 17 51,270,793 (GRCm39) splice site probably benign
IGL02229:Tbc1d5 APN 17 51,159,628 (GRCm39) missense probably damaging 1.00
IGL02811:Tbc1d5 APN 17 51,107,149 (GRCm39) missense probably damaging 0.99
IGL03192:Tbc1d5 APN 17 51,291,709 (GRCm39) splice site probably benign
FR4976:Tbc1d5 UTSW 17 51,106,971 (GRCm39) missense probably benign 0.01
FR4976:Tbc1d5 UTSW 17 51,106,959 (GRCm39) missense probably benign
IGL02796:Tbc1d5 UTSW 17 51,273,652 (GRCm39) missense probably damaging 1.00
R0153:Tbc1d5 UTSW 17 51,291,715 (GRCm39) splice site probably benign
R0326:Tbc1d5 UTSW 17 51,273,764 (GRCm39) missense probably damaging 1.00
R0417:Tbc1d5 UTSW 17 51,063,733 (GRCm39) missense probably benign 0.18
R0481:Tbc1d5 UTSW 17 51,226,079 (GRCm39) missense probably damaging 0.98
R1143:Tbc1d5 UTSW 17 51,049,087 (GRCm39) nonsense probably null
R1533:Tbc1d5 UTSW 17 51,227,603 (GRCm39) missense possibly damaging 0.89
R1543:Tbc1d5 UTSW 17 51,242,560 (GRCm39) missense probably benign 0.32
R2888:Tbc1d5 UTSW 17 51,242,577 (GRCm39) missense probably damaging 1.00
R3153:Tbc1d5 UTSW 17 51,275,264 (GRCm39) missense probably damaging 1.00
R3430:Tbc1d5 UTSW 17 51,107,156 (GRCm39) missense probably damaging 1.00
R3898:Tbc1d5 UTSW 17 51,270,772 (GRCm39) missense probably damaging 0.98
R4116:Tbc1d5 UTSW 17 51,227,615 (GRCm39) missense probably damaging 1.00
R4352:Tbc1d5 UTSW 17 51,089,429 (GRCm39) missense probably damaging 0.98
R4456:Tbc1d5 UTSW 17 51,089,369 (GRCm39) missense probably damaging 1.00
R4648:Tbc1d5 UTSW 17 51,043,251 (GRCm39) missense probably benign
R4711:Tbc1d5 UTSW 17 51,242,537 (GRCm39) missense probably damaging 0.98
R4754:Tbc1d5 UTSW 17 51,107,193 (GRCm39) missense probably benign 0.03
R5303:Tbc1d5 UTSW 17 51,043,228 (GRCm39) missense probably benign 0.00
R5360:Tbc1d5 UTSW 17 51,291,660 (GRCm39) missense probably benign 0.26
R5443:Tbc1d5 UTSW 17 51,042,995 (GRCm39) missense probably damaging 0.98
R5444:Tbc1d5 UTSW 17 51,042,995 (GRCm39) missense probably damaging 0.98
R5611:Tbc1d5 UTSW 17 51,042,995 (GRCm39) missense probably damaging 0.98
R5658:Tbc1d5 UTSW 17 51,120,869 (GRCm39) missense probably benign 0.18
R5701:Tbc1d5 UTSW 17 51,106,983 (GRCm39) small deletion probably benign
R5921:Tbc1d5 UTSW 17 51,270,721 (GRCm39) missense probably damaging 1.00
R6628:Tbc1d5 UTSW 17 51,043,236 (GRCm39) missense probably benign
R6705:Tbc1d5 UTSW 17 51,332,203 (GRCm39) start gained probably benign
R6990:Tbc1d5 UTSW 17 51,275,260 (GRCm39) missense probably benign 0.19
R7184:Tbc1d5 UTSW 17 51,107,110 (GRCm39) missense probably benign 0.00
R7443:Tbc1d5 UTSW 17 51,273,763 (GRCm39) missense probably damaging 1.00
R7484:Tbc1d5 UTSW 17 51,224,573 (GRCm39) missense possibly damaging 0.68
R7696:Tbc1d5 UTSW 17 51,181,605 (GRCm39) missense probably damaging 1.00
R7787:Tbc1d5 UTSW 17 51,181,711 (GRCm39) nonsense probably null
R7827:Tbc1d5 UTSW 17 51,089,291 (GRCm39) missense probably damaging 0.99
R7841:Tbc1d5 UTSW 17 51,106,950 (GRCm39) small deletion probably benign
R7861:Tbc1d5 UTSW 17 51,063,720 (GRCm39) missense probably damaging 0.99
R7931:Tbc1d5 UTSW 17 51,106,892 (GRCm39) splice site probably benign
R8108:Tbc1d5 UTSW 17 51,049,114 (GRCm39) missense probably benign 0.01
R8434:Tbc1d5 UTSW 17 51,089,455 (GRCm39) splice site probably benign
R8683:Tbc1d5 UTSW 17 51,291,631 (GRCm39) critical splice donor site probably null
R8792:Tbc1d5 UTSW 17 51,106,962 (GRCm39) small insertion probably benign
R8799:Tbc1d5 UTSW 17 51,106,969 (GRCm39) small insertion probably benign
R8799:Tbc1d5 UTSW 17 51,106,963 (GRCm39) small insertion probably benign
R8799:Tbc1d5 UTSW 17 51,106,962 (GRCm39) small insertion probably benign
R8799:Tbc1d5 UTSW 17 51,106,978 (GRCm39) small insertion probably benign
R8848:Tbc1d5 UTSW 17 51,226,082 (GRCm39) missense probably damaging 1.00
R9027:Tbc1d5 UTSW 17 51,063,692 (GRCm39) missense probably damaging 0.97
R9176:Tbc1d5 UTSW 17 51,089,363 (GRCm39) missense probably benign
R9751:Tbc1d5 UTSW 17 51,181,680 (GRCm39) missense possibly damaging 0.65
Z1088:Tbc1d5 UTSW 17 51,270,724 (GRCm39) missense probably damaging 1.00
Z1177:Tbc1d5 UTSW 17 51,273,581 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAGGTAACAAAGATCGAGGC -3'
(R):5'- TCAATGACTCAGTGATGATCTGG -3'

Sequencing Primer
(F):5'- AGATCGAGGCCTTAAAATATTGC -3'
(R):5'- CTCAGTGATGATCTGGTGTTTAATTG -3'
Posted On 2018-03-15