Incidental Mutation 'R5890:Tbc1d24'
ID 457127
Institutional Source Beutler Lab
Gene Symbol Tbc1d24
Ensembl Gene ENSMUSG00000036473
Gene Name TBC1 domain family, member 24
Synonyms C530046L02Rik
MMRRC Submission 044091-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5890 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24394405-24424536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24404500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 215 (W215R)
Ref Sequence ENSEMBL: ENSMUSP00000144462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040474] [ENSMUST00000097376] [ENSMUST00000167791] [ENSMUST00000168378] [ENSMUST00000168410] [ENSMUST00000171189] [ENSMUST00000201359] [ENSMUST00000201089] [ENSMUST00000201301] [ENSMUST00000201805] [ENSMUST00000201960] [ENSMUST00000202853] [ENSMUST00000202925] [ENSMUST00000201583]
AlphaFold Q3UUG6
Predicted Effect probably damaging
Transcript: ENSMUST00000040474
AA Change: W215R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036458
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097376
AA Change: W215R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094989
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 8.8e-6 SMART
TLDc 342 556 7.8e-82 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167791
AA Change: W215R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127005
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 8.6e-6 SMART
TLDc 342 556 7.6e-82 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168378
AA Change: W215R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126107
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168410
AA Change: W215R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128868
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171189
AA Change: W215R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128001
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201359
AA Change: W215R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144026
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
Blast:TLDc 283 321 2e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000201089
AA Change: W215R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144250
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201301
AA Change: W215R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143949
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 8.8e-6 SMART
TLDc 342 556 7.8e-82 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201805
AA Change: W215R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143883
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 8.8e-6 SMART
TLDc 342 556 7.8e-82 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201960
AA Change: W215R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144208
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202853
AA Change: W215R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144462
Gene: ENSMUSG00000107169
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 8.8e-6 SMART
Blast:TLDc 283 321 4e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000202925
AA Change: W215R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144575
Gene: ENSMUSG00000036473
AA Change: W215R

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202018
Predicted Effect probably benign
Transcript: ENSMUST00000201583
SMART Domains Protein: ENSMUSP00000144097
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TLDc 1 182 5.2e-37 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,550,554 (GRCm39) probably null Het
Acsm3 C A 7: 119,374,457 (GRCm39) T303N probably benign Het
Adamts13 A T 2: 26,876,603 (GRCm39) R506W probably damaging Het
Adck5 C T 15: 76,477,785 (GRCm39) T166M probably damaging Het
Adcy8 T A 15: 64,687,266 (GRCm39) I413F probably damaging Het
Adgrl2 A T 3: 148,564,811 (GRCm39) D252E probably damaging Het
Aldh16a1 T A 7: 44,793,969 (GRCm39) T636S probably benign Het
Ampd1 C A 3: 102,997,391 (GRCm39) F264L probably damaging Het
Arhgap17 T C 7: 122,885,981 (GRCm39) probably benign Het
Babam2 A G 5: 32,222,151 (GRCm39) probably benign Het
Bltp2 C T 11: 78,164,096 (GRCm39) Q40* probably null Het
Bod1l T A 5: 41,977,921 (GRCm39) E1131V probably benign Het
Cbs C T 17: 31,832,193 (GRCm39) V553M probably damaging Het
Cd72 T C 4: 43,454,475 (GRCm39) K18R probably damaging Het
Cep89 A G 7: 35,128,587 (GRCm39) Y580C probably damaging Het
Chrnb1 T A 11: 69,683,555 (GRCm39) I264F possibly damaging Het
Cntf A G 19: 12,741,357 (GRCm39) W168R probably damaging Het
Cxxc1 T A 18: 74,354,237 (GRCm39) D648E possibly damaging Het
Cyp2c68 A T 19: 39,700,936 (GRCm39) L294Q probably damaging Het
Dab2ip T C 2: 35,605,414 (GRCm39) S532P probably damaging Het
Defb3 G A 8: 19,345,200 (GRCm39) C52Y probably damaging Het
Dennd5a T G 7: 109,533,428 (GRCm39) E114A probably benign Het
Dnah12 T C 14: 26,428,039 (GRCm39) F222L probably benign Het
Dock9 A C 14: 121,905,820 (GRCm39) probably null Het
Fras1 A T 5: 96,793,807 (GRCm39) H1043L probably benign Het
Gamt C A 10: 80,095,741 (GRCm39) R63L possibly damaging Het
Gm1527 A G 3: 28,969,544 (GRCm39) H298R probably benign Het
Gphb5 C T 12: 75,462,596 (GRCm39) probably null Het
Greb1 A T 12: 16,783,422 (GRCm39) V104D possibly damaging Het
Hck A G 2: 152,970,996 (GRCm39) D86G probably damaging Het
Jhy T A 9: 40,833,958 (GRCm39) K321* probably null Het
Kcna5 C T 6: 126,511,699 (GRCm39) R143H probably damaging Het
Kif19a G T 11: 114,680,264 (GRCm39) W867L possibly damaging Het
Map3k4 G A 17: 12,490,303 (GRCm39) A376V probably damaging Het
Mars1 A T 10: 127,133,914 (GRCm39) M661K probably benign Het
Mecp2 C T X: 73,079,043 (GRCm39) V496M probably damaging Het
Mfsd2b A T 12: 4,917,651 (GRCm39) C132S probably damaging Het
Mfsd4a T C 1: 131,966,666 (GRCm39) Y356C probably damaging Het
Mif4gd G T 11: 115,500,188 (GRCm39) A89E probably benign Het
Mkln1 A T 6: 31,467,482 (GRCm39) E593D probably benign Het
Mlh1 G T 9: 111,057,563 (GRCm39) N749K possibly damaging Het
Mrgprb2 T A 7: 48,201,707 (GRCm39) *339C probably null Het
Nphp4 T C 4: 152,631,536 (GRCm39) V812A probably benign Het
Nrcam G T 12: 44,623,554 (GRCm39) V1048L probably benign Het
Obsl1 G A 1: 75,470,503 (GRCm39) A856V probably damaging Het
Osgepl1 T A 1: 53,357,326 (GRCm39) F163I probably damaging Het
Pcdha6 C A 18: 37,102,121 (GRCm39) T438K possibly damaging Het
Pcdhb20 A T 18: 37,638,286 (GRCm39) M271L probably benign Het
Phip T C 9: 82,789,005 (GRCm39) T770A probably benign Het
Ppm1d A G 11: 85,217,734 (GRCm39) T166A probably damaging Het
Ptprf A T 4: 118,081,932 (GRCm39) I1102K probably benign Het
Sbsn T C 7: 30,452,692 (GRCm39) V569A possibly damaging Het
Skida1 T A 2: 18,050,814 (GRCm39) probably benign Het
Smg1 T A 7: 117,789,809 (GRCm39) probably benign Het
Sorcs2 A G 5: 36,386,535 (GRCm39) Y168H probably damaging Het
Sufu A T 19: 46,443,172 (GRCm39) probably null Het
Tenm4 T C 7: 96,552,067 (GRCm39) L2502P probably damaging Het
Tgm4 A T 9: 122,890,703 (GRCm39) E10V probably damaging Het
Trip11 T C 12: 101,852,231 (GRCm39) E611G probably damaging Het
Ttn C A 2: 76,540,243 (GRCm39) A34248S possibly damaging Het
Ube3a T A 7: 58,921,776 (GRCm39) N49K probably damaging Het
Ube3c A G 5: 29,863,290 (GRCm39) D855G possibly damaging Het
Ugt8a A G 3: 125,669,202 (GRCm39) S301P probably benign Het
Wdfy4 T A 14: 32,824,534 (GRCm39) N1295I possibly damaging Het
Wdr47 G T 3: 108,517,328 (GRCm39) G43C probably damaging Het
Wdtc1 A C 4: 133,021,673 (GRCm39) L601W unknown Het
Zfp236 A G 18: 82,658,276 (GRCm39) F614S possibly damaging Het
Zfp637 T A 6: 117,822,047 (GRCm39) D58E possibly damaging Het
Other mutations in Tbc1d24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Tbc1d24 APN 17 24,404,802 (GRCm39) missense probably damaging 1.00
IGL01511:Tbc1d24 APN 17 24,400,892 (GRCm39) missense probably benign 0.00
IGL02499:Tbc1d24 APN 17 24,426,593 (GRCm39) splice site probably null
IGL02706:Tbc1d24 APN 17 24,404,395 (GRCm39) missense probably benign 0.32
R1464:Tbc1d24 UTSW 17 24,400,197 (GRCm39) critical splice donor site probably null
R1464:Tbc1d24 UTSW 17 24,400,197 (GRCm39) critical splice donor site probably null
R1529:Tbc1d24 UTSW 17 24,404,953 (GRCm39) missense probably damaging 1.00
R1985:Tbc1d24 UTSW 17 24,426,938 (GRCm39) nonsense probably null
R1987:Tbc1d24 UTSW 17 24,425,846 (GRCm39) missense possibly damaging 0.94
R2425:Tbc1d24 UTSW 17 24,404,982 (GRCm39) missense probably damaging 0.99
R2902:Tbc1d24 UTSW 17 24,426,220 (GRCm39) missense probably benign 0.01
R4622:Tbc1d24 UTSW 17 24,427,865 (GRCm39) missense probably benign 0.03
R4946:Tbc1d24 UTSW 17 24,427,510 (GRCm39) missense possibly damaging 0.94
R5428:Tbc1d24 UTSW 17 24,400,746 (GRCm39) missense probably benign 0.34
R5991:Tbc1d24 UTSW 17 24,428,043 (GRCm39) unclassified probably benign
R6002:Tbc1d24 UTSW 17 24,402,761 (GRCm39) start codon destroyed probably null 1.00
R6145:Tbc1d24 UTSW 17 24,427,203 (GRCm39) missense probably damaging 1.00
R6245:Tbc1d24 UTSW 17 24,404,967 (GRCm39) missense probably damaging 1.00
R6399:Tbc1d24 UTSW 17 24,427,303 (GRCm39) missense probably damaging 0.97
R6764:Tbc1d24 UTSW 17 24,404,754 (GRCm39) missense possibly damaging 0.95
R6893:Tbc1d24 UTSW 17 24,401,492 (GRCm39) missense probably damaging 1.00
R7219:Tbc1d24 UTSW 17 24,404,266 (GRCm39) missense probably damaging 1.00
R7262:Tbc1d24 UTSW 17 24,426,820 (GRCm39) missense probably damaging 1.00
R7490:Tbc1d24 UTSW 17 24,401,494 (GRCm39) missense probably damaging 1.00
R8013:Tbc1d24 UTSW 17 24,401,795 (GRCm39) missense possibly damaging 0.64
R8014:Tbc1d24 UTSW 17 24,401,795 (GRCm39) missense possibly damaging 0.64
R8558:Tbc1d24 UTSW 17 24,427,903 (GRCm39) missense unknown
R9036:Tbc1d24 UTSW 17 24,427,491 (GRCm39) missense probably benign 0.04
R9050:Tbc1d24 UTSW 17 24,404,899 (GRCm39) missense probably benign 0.38
R9050:Tbc1d24 UTSW 17 24,404,898 (GRCm39) missense possibly damaging 0.75
R9094:Tbc1d24 UTSW 17 24,400,274 (GRCm39) nonsense probably null
R9276:Tbc1d24 UTSW 17 24,405,114 (GRCm39) missense probably damaging 1.00
R9338:Tbc1d24 UTSW 17 24,427,377 (GRCm39) missense probably benign 0.02
R9425:Tbc1d24 UTSW 17 24,404,382 (GRCm39) missense probably benign
Z1176:Tbc1d24 UTSW 17 24,425,780 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCCTTCTCTAGTAGTTTCTCAGGG -3'
(R):5'- GCCGCATCTTATCCTGCAATG -3'

Sequencing Primer
(F):5'- GTCCTTGACAAACATTCGGATGTC -3'
(R):5'- TTATCCTGCAATGACCCCAC -3'
Posted On 2017-02-15