Mutagenetix > Incidental Mutation

Incidental Mutation 'R1985:Tbc1d24'

220550

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d24

Ensembl Gene

ENSMUSG00000036473

Gene Name

TBC1 domain family, member 24

Synonyms

C530046L02Rik

MMRRC Submission

039997-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1985 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24394405-24424536 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 24426938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 318 (R318*)

Ref Sequence

ENSEMBL: ENSMUSP00000024931 (fasta)

Gene Model

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

AlphaFold

Q3UUG6

Predicted Effect

probably null
Transcript: ENSMUST00000024931
AA Change: R318*

SMART Domains

Protein: ENSMUSP00000024931
Gene: ENSMUSG00000036473
AA Change: R318*

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: 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: 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: 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: 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: 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: 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: 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (76/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	C	A	8: 71,916,157 (GRCm39)		probably benign	Het
Adam5	A	T	8: 25,236,755 (GRCm39)	D648E	probably benign	Het
Akr1d1	A	G	6: 37,535,336 (GRCm39)	D240G	probably damaging	Het
Ankmy2	A	G	12: 36,207,363 (GRCm39)	H3R	possibly damaging	Het
Anpep	A	C	7: 79,490,605 (GRCm39)		probably null	Het
Apobr	A	G	7: 126,186,903 (GRCm39)	T20A	possibly damaging	Het
Atp2a2	A	T	5: 122,604,899 (GRCm39)	Y427N	probably benign	Het
Camkk2	A	C	5: 122,902,190 (GRCm39)	S40A	possibly damaging	Het
Camp	T	C	9: 109,677,497 (GRCm39)	N112S	probably benign	Het
Cbx7	A	G	15: 79,802,591 (GRCm39)	S229P	probably damaging	Het
Cnot2	T	C	10: 116,363,781 (GRCm39)	N41S	probably damaging	Het
Dchs1	A	G	7: 105,421,605 (GRCm39)	F272L	possibly damaging	Het
Dct	T	C	14: 118,273,954 (GRCm39)	K318E	probably benign	Het
Dhrs11	A	C	11: 84,719,633 (GRCm39)	L31V	probably damaging	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dnajc7	A	G	11: 100,481,718 (GRCm39)	S305P	probably benign	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Flnc	A	G	6: 29,444,415 (GRCm39)		probably benign	Het
Garin3	T	C	11: 46,298,693 (GRCm39)	*666Q	probably null	Het
Gm7535	A	G	17: 18,131,800 (GRCm39)		probably benign	Het
Grtp1	A	G	8: 13,229,376 (GRCm39)	F313L	probably damaging	Het
Haus6	T	C	4: 86,511,846 (GRCm39)	Y425C	possibly damaging	Het
Hdac1	T	A	4: 129,422,753 (GRCm39)	N83Y	possibly damaging	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hipk3	T	C	2: 104,264,780 (GRCm39)	I737V	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Ints3	C	T	3: 90,307,610 (GRCm39)		probably null	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kcnj16	C	T	11: 110,916,409 (GRCm39)	T357M	probably benign	Het
Kdm4b	T	A	17: 56,708,302 (GRCm39)	V957E	probably damaging	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Klhl11	G	T	11: 100,354,070 (GRCm39)	Q584K	probably benign	Het
Krt9	A	T	11: 100,080,817 (GRCm39)	M345K	probably benign	Het
Lgr5	T	C	10: 115,331,150 (GRCm39)		probably benign	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Ly9	A	G	1: 171,427,341 (GRCm39)	S405P	probably damaging	Het
Myh2	A	G	11: 67,071,740 (GRCm39)	D519G	possibly damaging	Het
Nav3	G	A	10: 109,606,045 (GRCm39)		probably benign	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Ninj2	A	T	6: 120,175,600 (GRCm39)		probably benign	Het
Obsl1	A	G	1: 75,482,244 (GRCm39)	C209R	probably damaging	Het
Or13a25	G	A	7: 140,247,734 (GRCm39)	C171Y	probably damaging	Het
Or2d4	A	G	7: 106,544,133 (GRCm39)	I25T	probably benign	Het
Or2j6	A	T	7: 139,980,713 (GRCm39)	M82K	possibly damaging	Het
Or2t44	A	C	11: 58,677,210 (GRCm39)	D50A	probably damaging	Het
Or2y1g	T	C	11: 49,171,110 (GRCm39)	I45T	probably damaging	Het
Or52z14	A	T	7: 103,252,879 (GRCm39)	Y6F	probably benign	Het
Otud4	G	C	8: 80,366,641 (GRCm39)	R36P	probably damaging	Het
Pcnt	C	T	10: 76,216,171 (GRCm39)	R2239H	possibly damaging	Het
Pgbd5	T	A	8: 125,097,331 (GRCm39)	M491L	probably benign	Het
Pitrm1	A	T	13: 6,608,220 (GRCm39)	D316V	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Pramel52-ps	A	T	5: 94,531,931 (GRCm39)	I272L	probably benign	Het
Prickle2	T	C	6: 92,388,433 (GRCm39)	D323G	probably damaging	Het
Psmd11	A	T	11: 80,336,089 (GRCm39)	I114F	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rbp3	T	G	14: 33,678,418 (GRCm39)	S789A	probably benign	Het
Rfxap	C	A	3: 54,714,747 (GRCm39)	R117L	probably damaging	Het
Rims2	T	A	15: 39,208,710 (GRCm39)	M171K	probably damaging	Het
Scin	A	G	12: 40,183,907 (GRCm39)		probably null	Het
Scn11a	A	G	9: 119,583,744 (GRCm39)	S1624P	probably benign	Het
Slc41a3	G	A	6: 90,619,210 (GRCm39)	V330M	probably damaging	Het
Slc9c1	A	G	16: 45,370,469 (GRCm39)	I237V	probably benign	Het
Spag6	A	G	2: 18,736,930 (GRCm39)	I218V	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Trpm3	T	A	19: 22,903,446 (GRCm39)	Y1069N	possibly damaging	Het
Tuba8	A	G	6: 121,197,479 (GRCm39)	D47G	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Uqcc6	T	A	10: 82,456,051 (GRCm39)	T37S	possibly damaging	Het
Wdr7	GTT	GT	18: 63,893,654 (GRCm39)		probably null	Het
Ybx2	A	G	11: 69,827,294 (GRCm39)		probably null	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp788	T	A	7: 41,299,905 (GRCm39)	I795N	probably 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
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'- GTAAATCACGAACGTGTATAGGTG -3'
(R):5'- ATGCCTCACGGTGTCTGTTG -3'

Sequencing Primer
(F):5'- TATAGGTGGCAGGCTCACCTC -3'
(R):5'- TACAGAGGGCCCTGATTGCAG -3'

Posted On

2014-08-25