Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Tbc1d24'

488845

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d24

Ensembl Gene

ENSMUSG00000036473

Gene Name

TBC1 domain family, member 24

Synonyms

MMRRC Submission

044292-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24175431-24209387 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24208229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 253 (G253V)

Ref Sequence

ENSEMBL: ENSMUSP00000024931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024931] [ENSMUST00000040474] [ENSMUST00000097376] [ENSMUST00000167791] [ENSMUST00000168410] [ENSMUST00000201089] [ENSMUST00000201301] [ENSMUST00000201359] [ENSMUST00000201583] [ENSMUST00000201960] [ENSMUST00000202925] [ENSMUST00000201805]

AlphaFold

Q3UUG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000024931
AA Change: G253V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024931
Gene: ENSMUSG00000036473
AA Change: G253V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
TBC	42	259	8.6e-6	SMART
TLDc	342	556	7.6e-82	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168410

SMART Domains

Protein: ENSMUSP00000128868
Gene: ENSMUSG00000036473

Domain	Start	End	E-Value	Type
TBC	42	259	1.78e-3	SMART
TLDc	336	550	2.21e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171563

Predicted Effect

probably benign
Transcript: ENSMUST00000201089

SMART Domains

Protein: ENSMUSP00000144250
Gene: ENSMUSG00000036473

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
TBC	42	259	1.78e-3	SMART
Blast:TLDc	283	321	2e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201716

Predicted Effect

probably benign
Transcript: ENSMUST00000201583

SMART Domains

Protein: ENSMUSP00000144097
Gene: ENSMUSG00000036473

Domain	Start	End	E-Value	Type
TLDc	1	182	5.2e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201960

SMART Domains

Protein: ENSMUSP00000144208
Gene: ENSMUSG00000036473

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
TBC	42	259	1.78e-3	SMART
TLDc	336	550	2.21e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201805

SMART Domains

Protein: ENSMUSP00000143883
Gene: ENSMUSG00000036473

Domain	Start	End	E-Value	Type
TBC	42	259	8.8e-6	SMART
TLDc	342	556	7.8e-82	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942		probably null	Het
4930402H24Rik	T	C	2: 130,778,473	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904	G602*	probably null	Het
Ep400	A	T	5: 110,756,703	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381	S525N	unknown	Het
Nasp	G	A	4: 116,611,077	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pde10a	T	C	17: 8,929,117	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433		probably benign	Het
Ppm1j	G	A	3: 104,781,379	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637		probably null	Het
Rapgef1	A	G	2: 29,736,666	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246		probably null	Het
Slc15a3	C	T	19: 10,857,251	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294		probably benign	Het
Syne1	T	C	10: 5,052,750	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563		probably null	Het
Tbck	T	A	3: 132,732,215	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574	K156R	probably damaging	Het

Other mutations in Tbc1d24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Tbc1d24	APN	17	24185828	missense	probably damaging	1.00
IGL01511:Tbc1d24	APN	17	24181918	missense	probably benign	0.00
IGL02499:Tbc1d24	APN	17	24207619	splice site	probably null
IGL02706:Tbc1d24	APN	17	24185421	missense	probably benign	0.32
R1464:Tbc1d24	UTSW	17	24181223	critical splice donor site	probably null
R1464:Tbc1d24	UTSW	17	24181223	critical splice donor site	probably null
R1529:Tbc1d24	UTSW	17	24185979	missense	probably damaging	1.00
R1985:Tbc1d24	UTSW	17	24207964	nonsense	probably null
R1987:Tbc1d24	UTSW	17	24206872	missense	possibly damaging	0.94
R2425:Tbc1d24	UTSW	17	24186008	missense	probably damaging	0.99
R2902:Tbc1d24	UTSW	17	24207246	missense	probably benign	0.01
R4622:Tbc1d24	UTSW	17	24208891	missense	probably benign	0.03
R4946:Tbc1d24	UTSW	17	24208536	missense	possibly damaging	0.94
R5428:Tbc1d24	UTSW	17	24181772	missense	probably benign	0.34
R5890:Tbc1d24	UTSW	17	24185526	missense	probably damaging	1.00
R5991:Tbc1d24	UTSW	17	24209069	unclassified	probably benign
R6002:Tbc1d24	UTSW	17	24183787	start codon destroyed	probably null	1.00
R6245:Tbc1d24	UTSW	17	24185993	missense	probably damaging	1.00
R6399:Tbc1d24	UTSW	17	24208329	missense	probably damaging	0.97
R6764:Tbc1d24	UTSW	17	24185780	missense	possibly damaging	0.95
R6893:Tbc1d24	UTSW	17	24182518	missense	probably damaging	1.00
R7219:Tbc1d24	UTSW	17	24185292	missense	probably damaging	1.00
R7262:Tbc1d24	UTSW	17	24207846	missense	probably damaging	1.00
R7490:Tbc1d24	UTSW	17	24182520	missense	probably damaging	1.00
R8013:Tbc1d24	UTSW	17	24182821	missense	possibly damaging	0.64
R8014:Tbc1d24	UTSW	17	24182821	missense	possibly damaging	0.64
R8558:Tbc1d24	UTSW	17	24208929	missense	unknown
R9036:Tbc1d24	UTSW	17	24208517	missense	probably benign	0.04
R9050:Tbc1d24	UTSW	17	24185924	missense	possibly damaging	0.75
R9050:Tbc1d24	UTSW	17	24185925	missense	probably benign	0.38
R9094:Tbc1d24	UTSW	17	24181300	nonsense	probably null
R9276:Tbc1d24	UTSW	17	24186140	missense	probably damaging	1.00
R9338:Tbc1d24	UTSW	17	24208403	missense	probably benign	0.02
R9425:Tbc1d24	UTSW	17	24185408	missense	probably benign
Z1176:Tbc1d24	UTSW	17	24206806	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATGTTGAAGCGGCATCTTCG -3'
(R):5'- TTCAGTGTGCAGGATGGCAG -3'

Sequencing Primer
(F):5'- GTCAGAAGTCCCCAGGCTAC -3'
(R):5'- AGGATGGCAGCCCACAG -3'

Posted On

2017-10-10