Incidental Mutation 'R6399:Tbc1d24'
ID 516110
Institutional Source Beutler Lab
Gene Symbol Tbc1d24
Ensembl Gene ENSMUSG00000036473
Gene Name TBC1 domain family, member 24
Synonyms C530046L02Rik
MMRRC Submission 044546-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6399 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24394405-24424536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24427303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 220 (I220F)
Ref Sequence ENSEMBL: ENSMUSP00000024931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024931] [ENSMUST00000040474] [ENSMUST00000097376] [ENSMUST00000167791] [ENSMUST00000201805] [ENSMUST00000168410] [ENSMUST00000202925] [ENSMUST00000201301] [ENSMUST00000201583] [ENSMUST00000201960] [ENSMUST00000201089] [ENSMUST00000201359]
AlphaFold Q3UUG6
Predicted Effect probably damaging
Transcript: ENSMUST00000024931
AA Change: I220F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024931
Gene: ENSMUSG00000036473
AA Change: I220F

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
LamNT 34 253 8.83e-89 SMART
EGF_Lam 255 308 3.03e-5 SMART
EGF_Lam 311 371 1.29e-8 SMART
EGF_Lam 374 421 9.83e-14 SMART
C345C 456 571 2.72e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040474
SMART Domains Protein: ENSMUSP00000036458
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097376
SMART Domains Protein: ENSMUSP00000094989
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 8.8e-6 SMART
TLDc 342 556 7.8e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148704
Predicted Effect probably benign
Transcript: ENSMUST00000167791
SMART Domains Protein: ENSMUSP00000127005
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 8.6e-6 SMART
TLDc 342 556 7.6e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201805
SMART Domains Protein: ENSMUSP00000143883
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 8.8e-6 SMART
TLDc 342 556 7.8e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168410
SMART Domains Protein: ENSMUSP00000128868
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202925
SMART Domains Protein: ENSMUSP00000144575
Gene: ENSMUSG00000036473

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: ENSMUST00000171563
Predicted Effect probably benign
Transcript: ENSMUST00000201301
SMART Domains Protein: ENSMUSP00000143949
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 8.8e-6 SMART
TLDc 342 556 7.8e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201583
SMART Domains Protein: ENSMUSP00000144097
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TLDc 1 182 5.2e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201960
SMART Domains Protein: ENSMUSP00000144208
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201089
SMART Domains Protein: ENSMUSP00000144250
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201359
SMART Domains Protein: ENSMUSP00000144026
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
Blast:TLDc 283 321 2e-13 BLAST
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.7%
Validation Efficiency 97% (28/29)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,645,821 (GRCm39) C569R probably damaging Het
Acadsb T A 7: 131,031,784 (GRCm39) W207R probably damaging Het
Apbb2 C T 5: 66,608,810 (GRCm39) probably null Het
Atad2b T C 12: 5,007,558 (GRCm39) V415A probably damaging Het
Ccdc150 G A 1: 54,303,116 (GRCm39) probably null Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Chd7 A G 4: 8,828,274 (GRCm39) T1072A probably damaging Het
Depdc1b T A 13: 108,460,580 (GRCm39) F63L probably damaging Het
Dnah2 C T 11: 69,349,344 (GRCm39) V2431M probably damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Flnc A G 6: 29,458,882 (GRCm39) E2421G probably damaging Het
Kcna4 T C 2: 107,126,894 (GRCm39) S543P probably damaging Het
Lrrc30 T A 17: 67,939,681 (GRCm39) probably benign Het
Msh6 T A 17: 88,294,319 (GRCm39) S1025T probably damaging Het
Ndrg3 C G 2: 156,782,294 (GRCm39) A191P probably damaging Het
Or1o4 T C 17: 37,590,666 (GRCm39) Y215C probably damaging Het
Or5aq7 C T 2: 86,938,330 (GRCm39) V134I probably benign Het
Or5p5 A G 7: 107,413,961 (GRCm39) T57A possibly damaging Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Rnf34 T C 5: 122,999,839 (GRCm39) F32L probably benign Het
Serpinb9g A T 13: 33,676,834 (GRCm39) L205F probably benign Het
Thsd7b A T 1: 129,744,385 (GRCm39) T758S probably benign Het
Trak1 A G 9: 121,282,562 (GRCm39) probably null Het
Ttn G C 2: 76,556,407 (GRCm39) F30199L probably benign Het
Ttn T G 2: 76,556,406 (GRCm39) S30200R probably damaging Het
Uggt1 T C 1: 36,202,447 (GRCm39) D1050G possibly damaging Het
Veph1 T A 3: 66,033,312 (GRCm39) S605C probably benign Het
Wbp1 A G 6: 83,096,982 (GRCm39) probably benign Het
Ythdc2 C A 18: 45,019,469 (GRCm39) Q1413K 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
R5890:Tbc1d24 UTSW 17 24,404,500 (GRCm39) missense probably damaging 1.00
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
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'- TCTGTACCATGCTGGCAGTC -3'
(R):5'- CTTAAGTCGCAGGACCATGG -3'

Sequencing Primer
(F):5'- TCGCAGACCAGGTGGCC -3'
(R):5'- AGCTGTACCCTGGACTATGG -3'
Posted On 2018-05-04