Mutagenetix > Incidental Mutation

Incidental Mutation 'R4622:Tbc1d24'

346283

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d24

Ensembl Gene

ENSMUSG00000036473

Gene Name

TBC1 domain family, member 24

Synonyms

C530046L02Rik

MMRRC Submission

041887-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24394405-24424536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24427865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 32 (D32E)

Ref Sequence

ENSEMBL: ENSMUSP00000024931 (fasta)

Gene Model

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

AlphaFold

Q3UUG6

Predicted Effect

probably benign
Transcript: ENSMUST00000024931
AA Change: D32E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000024931
Gene: ENSMUSG00000036473
AA Change: D32E

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

noncoding transcript
Transcript: ENSMUST00000201716

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

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: 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

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: 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: ENSMUST00000201583

SMART Domains

Protein: ENSMUSP00000144097
Gene: ENSMUSG00000036473

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

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (107/109)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,914,474 (GRCm39)	N26Y	probably damaging	Het
Aass	C	T	6: 23,092,329 (GRCm39)	D194N	probably damaging	Het
Acp7	T	C	7: 28,313,822 (GRCm39)	Y404C	probably damaging	Het
Acsl1	A	T	8: 46,979,410 (GRCm39)	I421L	probably benign	Het
Adgrb3	A	T	1: 25,865,569 (GRCm39)	D91E	probably damaging	Het
Adgrg3	T	C	8: 95,767,153 (GRCm39)	S503P	probably damaging	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Arhgap32	A	T	9: 32,150,644 (GRCm39)	I15F	possibly damaging	Het
Arid1b	G	T	17: 5,045,325 (GRCm39)		probably benign	Het
Asnsd1	A	G	1: 53,387,378 (GRCm39)	V83A	probably benign	Het
Atg101	A	G	15: 101,191,213 (GRCm39)		probably benign	Het
Atp8a1	T	C	5: 67,840,056 (GRCm39)		probably benign	Het
Aurkb	T	A	11: 68,939,188 (GRCm39)	L137Q	probably damaging	Het
AY702103	A	T	17: 50,547,029 (GRCm39)		noncoding transcript	Het
B3gnt9	A	G	8: 105,980,477 (GRCm39)	S304P	probably benign	Het
Babam2	T	C	5: 32,164,656 (GRCm39)	V310A	probably damaging	Het
Batf	A	G	12: 85,755,327 (GRCm39)	D60G	possibly damaging	Het
Baz1a	A	T	12: 54,988,300 (GRCm39)	I283K	probably benign	Het
Bmerb1	A	C	16: 13,911,786 (GRCm39)	E44A	possibly damaging	Het
Bst1	T	G	5: 43,976,261 (GRCm39)		probably benign	Het
C2	C	A	17: 35,082,650 (GRCm39)	V490L	probably damaging	Het
Cacna1e	T	C	1: 154,347,311 (GRCm39)	E952G	possibly damaging	Het
Ccnyl1	A	G	1: 64,757,417 (GRCm39)	D262G	probably damaging	Het
Cdc42bpa	A	T	1: 179,902,223 (GRCm39)	K493N	probably damaging	Het
Cenpe	A	G	3: 134,949,469 (GRCm39)	T85A	probably benign	Het
Ces2e	T	A	8: 105,655,341 (GRCm39)		probably null	Het
Chd3	T	A	11: 69,239,834 (GRCm39)	R1665W	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cspg4b	A	G	13: 113,456,615 (GRCm39)	D887G	probably benign	Het
Ctnnd2	A	T	15: 30,887,315 (GRCm39)	M781L	probably benign	Het
Ctnnd2	A	G	15: 31,009,259 (GRCm39)	T1094A	probably benign	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Ddx54	G	A	5: 120,764,488 (GRCm39)	V732M	probably damaging	Het
Ecrg4	G	T	1: 43,781,481 (GRCm39)	R121L	possibly damaging	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Eva1c	T	A	16: 90,694,343 (GRCm39)		probably null	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
Fasl	A	G	1: 161,614,703 (GRCm39)	L120P	probably benign	Het
H2-M9	A	T	17: 36,952,716 (GRCm39)		probably null	Het
Hdgf	C	A	3: 87,821,884 (GRCm39)	N198K	possibly damaging	Het
Hspa9	A	T	18: 35,082,090 (GRCm39)	M172K	possibly damaging	Het
Il1r1	A	C	1: 40,351,580 (GRCm39)	L406F	probably damaging	Het
Il31	T	C	5: 123,618,498 (GRCm39)	D96G	probably damaging	Het
Inhbc	A	G	10: 127,193,146 (GRCm39)	I290T	probably benign	Het
Lrp2	A	T	2: 69,290,693 (GRCm39)	V3589D	possibly damaging	Het
Lrrc14	A	T	15: 76,600,540 (GRCm39)		probably benign	Het
Lyst	G	A	13: 13,848,983 (GRCm39)	A2057T	probably benign	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mapk10	C	A	5: 103,137,590 (GRCm39)	G209V	probably damaging	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Met	G	T	6: 17,513,383 (GRCm39)	R411L	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl4	G	A	9: 20,918,793 (GRCm39)	R176Q	probably damaging	Het
Mrtfb	G	A	16: 13,150,570 (GRCm39)	G102D	probably damaging	Het
Mtmr3	T	C	11: 4,441,067 (GRCm39)	T528A	possibly damaging	Het
Mtmr7	A	T	8: 41,034,583 (GRCm39)	N246K	probably damaging	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Necab3	A	G	2: 154,397,502 (GRCm39)		probably null	Het
Nr1d1	C	T	11: 98,660,710 (GRCm39)	C419Y	probably damaging	Het
Nwd1	C	A	8: 73,393,928 (GRCm39)	A397E	probably damaging	Het
Oas1f	A	T	5: 120,986,390 (GRCm39)	K114N	probably damaging	Het
Or13a18	T	A	7: 140,190,611 (GRCm39)	C169*	probably null	Het
Or1e35	C	A	11: 73,797,737 (GRCm39)	V194F	possibly damaging	Het
Or51ab3	G	T	7: 103,201,361 (GRCm39)	R123L	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or5w13	T	A	2: 87,523,987 (GRCm39)	K80*	probably null	Het
Osbpl8	T	C	10: 111,127,357 (GRCm39)	S814P	probably benign	Het
Pcdhgb7	A	T	18: 37,886,183 (GRCm39)	Q451L	probably benign	Het
Pde7b	C	T	10: 20,294,538 (GRCm39)	R300Q	probably damaging	Het
Pgghg	A	G	7: 140,521,409 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,589,688 (GRCm39)		probably benign	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppt2	A	G	17: 34,844,875 (GRCm39)	V123A	probably benign	Het
Prdx5	G	T	19: 6,884,341 (GRCm39)		probably benign	Het
Prpf40b	A	G	15: 99,214,197 (GRCm39)	D819G	probably benign	Het
Prss3l	A	T	6: 41,422,246 (GRCm39)	I53N	probably damaging	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Rab3gap1	T	C	1: 127,870,156 (GRCm39)	C919R	probably benign	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rec8	C	T	14: 55,862,215 (GRCm39)	R480C	probably damaging	Het
Reg3d	A	G	6: 78,354,442 (GRCm39)	L53S	probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Scn2a	T	C	2: 65,582,371 (GRCm39)	V1573A	probably benign	Het
Selenoo	G	T	15: 88,979,910 (GRCm39)	G353*	probably null	Het
Siva1	A	G	12: 112,611,501 (GRCm39)	Y34C	probably damaging	Het
Slc2a4	C	T	11: 69,835,600 (GRCm39)		probably benign	Het
Slc39a12	A	T	2: 14,405,136 (GRCm39)	T243S	probably benign	Het
Slc9b2	T	C	3: 135,038,279 (GRCm39)	I453T	probably damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Tet1	T	A	10: 62,655,253 (GRCm39)	H1556L	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,731,296 (GRCm39)		probably benign	Het
Uimc1	A	T	13: 55,225,307 (GRCm39)	L89H	probably damaging	Het
Vipas39	A	G	12: 87,291,317 (GRCm39)	I343T	probably damaging	Het
Vmn2r71	G	T	7: 85,269,817 (GRCm39)	V443L	probably benign	Het
Zbtb14	G	A	17: 69,695,342 (GRCm39)	D347N	possibly damaging	Het
Zfp980	G	T	4: 145,428,627 (GRCm39)	C452F	probably damaging	Het
Zmym5	T	A	14: 57,049,693 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,883,673 (GRCm39)	T145A	possibly damaging	Het

Other mutations in Tbc1d24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGTTGCAGCAAATCGGAGC -3'
(R):5'- TATCTTGGCACTGCAGACC -3'

Sequencing Primer
(F):5'- CGCCAACAGAGAGGACTTGC -3'
(R):5'- CACTGCAGACCCGGCAC -3'

Posted On

2015-09-25