Incidental Mutation 'R1464:Tbc1d24'
ID 165368
Institutional Source Beutler Lab
Gene Symbol Tbc1d24
Ensembl Gene ENSMUSG00000036473
Gene Name TBC1 domain family, member 24
Synonyms C530046L02Rik
MMRRC Submission 039518-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1464 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24394405-24424536 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 24400197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040474] [ENSMUST00000097376] [ENSMUST00000097376] [ENSMUST00000167791] [ENSMUST00000168378] [ENSMUST00000168410] [ENSMUST00000171189] [ENSMUST00000201089] [ENSMUST00000201089] [ENSMUST00000201805] [ENSMUST00000201805] [ENSMUST00000201960] [ENSMUST00000201301] [ENSMUST00000201359] [ENSMUST00000202925] [ENSMUST00000201583] [ENSMUST00000202853]
AlphaFold Q3UUG6
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 null
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 probably null
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 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: ENSMUST00000168378
SMART Domains Protein: ENSMUSP00000126107
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 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: ENSMUST00000171189
SMART Domains Protein: ENSMUSP00000128001
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
TLDc 336 550 2.21e-79 SMART
Predicted Effect probably null
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 null
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 null
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 null
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 noncoding transcript
Transcript: ENSMUST00000202018
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: 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: ENSMUST00000201359
SMART Domains Protein: ENSMUSP00000144026
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TBC 42 259 1.78e-3 SMART
Blast:TLDc 283 321 2e-13 BLAST
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 probably benign
Transcript: ENSMUST00000201583
SMART Domains Protein: ENSMUSP00000144097
Gene: ENSMUSG00000036473

DomainStartEndE-ValueType
TLDc 1 182 5.2e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202853
SMART Domains Protein: ENSMUSP00000144462
Gene: ENSMUSG00000107169

DomainStartEndE-ValueType
TBC 42 259 8.8e-6 SMART
Blast:TLDc 283 321 4e-13 BLAST
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.0%
  • 10x: 91.0%
  • 20x: 72.6%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030469F06Rik A G 12: 31,234,914 (GRCm39) noncoding transcript Het
Adamts8 T A 9: 30,862,673 (GRCm39) W86R probably benign Het
Adh1 A G 3: 137,994,508 (GRCm39) probably null Het
Adipor2 A T 6: 119,338,804 (GRCm39) W150R probably damaging Het
Aff4 T A 11: 53,263,351 (GRCm39) S124T probably damaging Het
Ahnak G T 19: 8,982,260 (GRCm39) K1181N probably damaging Het
Alkbh5 A G 11: 60,429,873 (GRCm39) I209V probably benign Het
Ankrd11 T C 8: 123,619,463 (GRCm39) E1442G probably damaging Het
Apba2 T A 7: 64,345,297 (GRCm39) D162E probably benign Het
Asic3 G A 5: 24,618,819 (GRCm39) G37E probably damaging Het
AU040320 A T 4: 126,685,824 (GRCm39) K133N possibly damaging Het
C1qtnf7 A G 5: 43,766,481 (GRCm39) S34G probably benign Het
Ccdc148 T A 2: 58,796,374 (GRCm39) R463* probably null Het
Ccdc148 T C 2: 58,824,455 (GRCm39) R329G probably damaging Het
Ccdc185 A G 1: 182,576,263 (GRCm39) I142T probably benign Het
Chrna10 G A 7: 101,763,454 (GRCm39) P114S probably damaging Het
Chst10 A G 1: 38,904,772 (GRCm39) I311T probably damaging Het
Cpne9 T C 6: 113,271,698 (GRCm39) Y353H probably damaging Het
Cubn G T 2: 13,330,099 (GRCm39) A2594E possibly damaging Het
Cyp3a13 T C 5: 137,903,827 (GRCm39) N277S possibly damaging Het
Dctn4 A G 18: 60,671,478 (GRCm39) T117A probably damaging Het
Ddah1 A T 3: 145,559,029 (GRCm39) K96* probably null Het
Ddx5 A C 11: 106,675,711 (GRCm39) D326E probably benign Het
Dlg2 T C 7: 91,617,406 (GRCm39) S323P probably damaging Het
Dnaaf1 C T 8: 120,306,049 (GRCm39) H109Y probably damaging Het
Dnah8 C A 17: 30,914,147 (GRCm39) R1098S possibly damaging Het
Dnajc13 T C 9: 104,091,366 (GRCm39) T642A probably benign Het
Dnajc18 A G 18: 35,813,900 (GRCm39) S290P possibly damaging Het
Dscam T A 16: 96,602,453 (GRCm39) H663L possibly damaging Het
Emc1 A G 4: 139,098,248 (GRCm39) N740S probably damaging Het
Enpp2 C T 15: 54,727,208 (GRCm39) G541D probably damaging Het
Fam234b C T 6: 135,205,490 (GRCm39) T485I probably benign Het
Fbxl13 A T 5: 21,688,989 (GRCm39) I773K probably benign Het
Fmo4 A G 1: 162,621,924 (GRCm39) F429S possibly damaging Het
Frem1 T C 4: 82,930,116 (GRCm39) S277G probably damaging Het
Gaa A G 11: 119,163,810 (GRCm39) I221V probably benign Het
Helz2 T C 2: 180,881,447 (GRCm39) E345G probably damaging Het
Ifna4 G T 4: 88,760,237 (GRCm39) R47I probably damaging Het
Igsf21 C A 4: 139,761,836 (GRCm39) A281S probably benign Het
Ikzf3 T A 11: 98,407,731 (GRCm39) I37L probably benign Het
Jag1 T C 2: 136,957,568 (GRCm39) E48G probably damaging Het
Jarid2 G T 13: 45,001,857 (GRCm39) V57F probably damaging Het
Kcnj4 A G 15: 79,369,605 (GRCm39) L125P probably damaging Het
Kif21b A G 1: 136,083,891 (GRCm39) K713E possibly damaging Het
Layn T A 9: 50,968,886 (GRCm39) S286C probably damaging Het
Lepr T A 4: 101,592,878 (GRCm39) D164E probably benign Het
Macroh2a1 A T 13: 56,230,949 (GRCm39) S310T probably damaging Het
Map3k1 T C 13: 111,892,405 (GRCm39) H950R possibly damaging Het
Map4k5 C A 12: 69,852,124 (GRCm39) V801L possibly damaging Het
Mapkbp1 T A 2: 119,851,742 (GRCm39) S895T probably benign Het
Naca T A 10: 127,884,157 (GRCm39) M2157K probably damaging Het
Nav2 T C 7: 49,011,952 (GRCm39) I61T probably damaging Het
Nkx2-5 C A 17: 27,058,253 (GRCm39) A234S probably benign Het
Nol8 G A 13: 49,830,264 (GRCm39) S1116N probably benign Het
Nppa T C 4: 148,085,304 (GRCm39) S5P probably benign Het
Nup210 A G 6: 91,030,551 (GRCm39) V123A possibly damaging Het
Or13a21 G T 7: 139,999,286 (GRCm39) N133K probably benign Het
Osbpl11 A G 16: 33,049,455 (GRCm39) K604R probably damaging Het
Osbpl1a C T 18: 13,047,615 (GRCm39) S113N probably benign Het
P2rx4 C A 5: 122,852,602 (GRCm39) P92Q probably damaging Het
Pde9a A T 17: 31,692,136 (GRCm39) Q148L probably benign Het
Phf21b T A 15: 84,689,160 (GRCm39) H122L probably damaging Het
Pik3ca T A 3: 32,515,990 (GRCm39) F977I probably damaging Het
Potefam1 A G 2: 111,055,748 (GRCm39) probably null Het
Pp2d1 T G 17: 53,823,015 (GRCm39) K17T possibly damaging Het
Ppp4r2 A G 6: 100,843,527 (GRCm39) E415G probably damaging Het
Pramel19 T A 4: 101,798,503 (GRCm39) L158Q probably damaging Het
Prkg1 A G 19: 30,556,270 (GRCm39) S559P probably damaging Het
Prss45 A T 9: 110,670,019 (GRCm39) Y276F possibly damaging Het
Ptk7 G T 17: 46,883,517 (GRCm39) N849K probably damaging Het
Rnf121 A G 7: 101,680,782 (GRCm39) I125T possibly damaging Het
Rnf17 A G 14: 56,699,368 (GRCm39) N502S probably damaging Het
Sap25 T A 5: 137,640,622 (GRCm39) Y167* probably null Het
Sdk2 G A 11: 113,720,906 (GRCm39) T1341I possibly damaging Het
Sgcb A G 5: 73,792,896 (GRCm39) V302A probably benign Het
Skor1 T A 9: 63,047,393 (GRCm39) M865L possibly damaging Het
Slc35g1 C A 19: 38,391,665 (GRCm39) L316I probably benign Het
Slco1a8 C T 6: 141,938,243 (GRCm39) W225* probably null Het
Spint4 T A 2: 164,540,568 (GRCm39) L33H probably damaging Het
Sptlc3 A T 2: 139,389,154 (GRCm39) D178V probably benign Het
Tbc1d2 T A 4: 46,606,491 (GRCm39) Y818F possibly damaging Het
Teddm2 C T 1: 153,726,277 (GRCm39) W146* probably null Het
Ttn T A 2: 76,589,338 (GRCm39) D12948V probably damaging Het
Txndc8 T C 4: 58,000,274 (GRCm39) T102A probably damaging Het
Uxs1 G A 1: 43,804,076 (GRCm39) Q280* probably null Het
Vmn1r167 T C 7: 23,204,681 (GRCm39) T112A possibly damaging Het
Vmn1r195 A T 13: 22,463,348 (GRCm39) I273L probably benign Het
Vmn1r28 T A 6: 58,242,217 (GRCm39) M20K probably benign Het
Vmn1r53 G A 6: 90,200,914 (GRCm39) L137F probably benign Het
Vps13b C T 15: 35,709,630 (GRCm39) A1859V probably benign Het
Vwa5b2 A G 16: 20,415,019 (GRCm39) H347R probably benign Het
Wnk2 G A 13: 49,235,451 (GRCm39) P655S probably damaging Het
Zan T G 5: 137,418,191 (GRCm39) D2969A unknown Het
Zbtb24 A G 10: 41,331,075 (GRCm39) H334R probably damaging Het
Zfp108 A G 7: 23,959,973 (GRCm39) D188G probably benign Het
Zfp784 A T 7: 5,038,800 (GRCm39) C253S possibly damaging Het
Zfr T G 15: 12,146,458 (GRCm39) C336W probably 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
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
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'- AATTGTGGGTACAGGACACCTGGC -3'
(R):5'- ACGTTGATGGGGACCTGAATCGAG -3'

Sequencing Primer
(F):5'- GTCTCTTACAGAGATGCTAGACAG -3'
(R):5'- TGAATCGAGGGCGCACTG -3'
Posted On 2014-03-28