Incidental Mutation 'R4116:Tbc1d5'
ID 314656
Institutional Source Beutler Lab
Gene Symbol Tbc1d5
Ensembl Gene ENSMUSG00000023923
Gene Name TBC1 domain family, member 5
Synonyms 1600014N05Rik
MMRRC Submission 040859-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4116 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 51040152-51486380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51227615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 210 (L210P)
Ref Sequence ENSEMBL: ENSMUSP00000153172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024717] [ENSMUST00000224528]
AlphaFold Q80XQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000024717
AA Change: L210P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: L210P

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 noncoding transcript
Transcript: ENSMUST00000122634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223979
Predicted Effect probably damaging
Transcript: ENSMUST00000224528
AA Change: L210P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224977
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,634,817 (GRCm39) F395L possibly damaging Het
Amigo1 C T 3: 108,095,761 (GRCm39) T420I probably damaging Het
Ankrd34c A G 9: 89,611,927 (GRCm39) L138P probably damaging Het
Cald1 C T 6: 34,722,654 (GRCm39) R107C probably damaging Het
Cast C T 13: 74,872,956 (GRCm39) E444K probably damaging Het
Ccdc121rt2 A G 5: 112,598,377 (GRCm39) E308G probably damaging Het
Crybg1 T G 10: 43,875,158 (GRCm39) N650T possibly damaging Het
Cyp19a1 T A 9: 54,076,025 (GRCm39) R276S possibly damaging Het
Cyp2c66 A G 19: 39,165,003 (GRCm39) D328G possibly damaging Het
Hectd1 A T 12: 51,815,506 (GRCm39) L1527* probably null Het
Hoxd13 C A 2: 74,498,832 (GRCm39) A60E possibly damaging Het
Igkv3-7 G T 6: 70,584,923 (GRCm39) G88C probably damaging Het
Kcnk12 GGCATCGC GGCATCGCATCGC 17: 88,053,584 (GRCm39) probably null Het
Klhl30 C A 1: 91,281,830 (GRCm39) Q144K probably benign Het
Kprp A T 3: 92,731,275 (GRCm39) S592T probably damaging Het
Man2c1 T C 9: 57,047,589 (GRCm39) probably null Het
Mbtps1 A T 8: 120,268,391 (GRCm39) M260K probably benign Het
Morc3 G A 16: 93,670,227 (GRCm39) D801N probably benign Het
Mpped1 A G 15: 83,680,910 (GRCm39) probably benign Het
Mtcl1 T C 17: 66,673,476 (GRCm39) T767A probably benign Het
Nek5 G A 8: 22,601,178 (GRCm39) T181M probably damaging Het
Nomo1 T C 7: 45,683,320 (GRCm39) I22T probably benign Het
Or7g27 T G 9: 19,249,940 (GRCm39) F61L probably benign Het
Plin4 A G 17: 56,409,113 (GRCm39) V1369A probably benign Het
Polr3c A T 3: 96,622,560 (GRCm39) F365Y probably damaging Het
Sec22a A G 16: 35,139,202 (GRCm39) F232S probably damaging Het
Sema4f G A 6: 82,894,887 (GRCm39) T436M probably benign Het
Sf3a2 A G 10: 80,637,175 (GRCm39) T37A probably damaging Het
Slc1a6 A G 10: 78,623,723 (GRCm39) M41V probably benign Het
Sptbn4 C T 7: 27,090,995 (GRCm39) E1399K probably damaging Het
Sspo T C 6: 48,433,928 (GRCm39) L911P probably damaging Het
Sult2a2 A T 7: 13,468,708 (GRCm39) Q58L probably benign Het
Syne2 A T 12: 75,977,853 (GRCm39) I1433F probably damaging Het
Synm C T 7: 67,384,405 (GRCm39) V644I possibly damaging Het
Trak1 T C 9: 121,277,909 (GRCm39) Y229H probably damaging Het
Unc5b G T 10: 60,610,479 (GRCm39) T446K probably damaging Het
Wdr95 C A 5: 149,521,040 (GRCm39) D604E probably benign Het
Zfp773 AGCTGCTGCTGCTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTGC 7: 7,136,092 (GRCm39) 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
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
R6280:Tbc1d5 UTSW 17 51,089,338 (GRCm39) missense probably benign 0.01
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'- TATCTGGGTAGAATCAATCGTCAG -3'
(R):5'- TGCATGCTCTGGTTGAATTAGAATC -3'

Sequencing Primer
(F):5'- CAAAGATCTAATGTTTCAAAGGCAC -3'
(R):5'- CCATCTTTGTGGTAGCGA -3'
Posted On 2015-05-14