Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01060:Tbc1d24'

52991

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d24

Ensembl Gene

ENSMUSG00000036473

Gene Name

TBC1 domain family, member 24

Synonyms

C530046L02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01060

Quality Score

Status

Chromosome

Chromosomal Location

24394405-24424536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24404802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 114 (V114E)

Ref Sequence

ENSEMBL: ENSMUSP00000144462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040474] [ENSMUST00000097376] [ENSMUST00000167791] [ENSMUST00000168378] [ENSMUST00000168410] [ENSMUST00000171189] [ENSMUST00000201089] [ENSMUST00000201301] [ENSMUST00000202925] [ENSMUST00000201805] [ENSMUST00000201960] [ENSMUST00000202853] [ENSMUST00000201359] [ENSMUST00000201583]

AlphaFold

Q3UUG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040474
AA Change: V114E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036458
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097376
AA Change: V114E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094989
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167791
AA Change: V114E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127005
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168378
AA Change: V114E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126107
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168410
AA Change: V114E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128868
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171189
AA Change: V114E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128001
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201089
AA Change: V114E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144250
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201301
AA Change: V114E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143949
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202925
AA Change: V114E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144575
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201805
AA Change: V114E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143883
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201960
AA Change: V114E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144208
Gene: ENSMUSG00000036473
AA Change: V114E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202853
AA Change: V114E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144462
Gene: ENSMUSG00000107169
AA Change: V114E

Domain	Start	End	E-Value	Type
TBC	42	259	8.8e-6	SMART
Blast:TLDc	283	321	4e-13	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000201359
AA Change: V114E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144026
Gene: ENSMUSG00000036473
AA Change: V114E

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

noncoding transcript
Transcript: ENSMUST00000202018

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

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Anks4b	A	G	7: 119,773,148 (GRCm39)	T3A	possibly damaging	Het
Arhgef26	T	A	3: 62,247,542 (GRCm39)	S209T	probably benign	Het
Ccdc78	A	G	17: 26,007,806 (GRCm39)	D281G	probably damaging	Het
Ccnb3	A	T	X: 6,846,513 (GRCm39)	N1362K	probably benign	Het
Dnah2	T	C	11: 69,368,918 (GRCm39)	N1662S	possibly damaging	Het
Elp1	C	T	4: 56,784,537 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,769,315 (GRCm39)	R904W	probably damaging	Het
Fam120c	C	T	X: 150,252,583 (GRCm39)	P1045S	probably benign	Het
Gm12887	C	T	4: 121,473,610 (GRCm39)		probably benign	Het
Gpld1	G	A	13: 25,166,549 (GRCm39)	G627S	probably damaging	Het
Krt77	T	A	15: 101,769,315 (GRCm39)		probably benign	Het
Ltf	A	T	9: 110,851,950 (GRCm39)		probably null	Het
Map3k6	G	T	4: 132,974,613 (GRCm39)		probably null	Het
Nsd1	G	A	13: 55,411,242 (GRCm39)	G1431D	probably damaging	Het
Plekhm2	C	T	4: 141,369,956 (GRCm39)		probably null	Het
Popdc2	T	A	16: 38,194,327 (GRCm39)	N249K	probably damaging	Het
Ppm1h	A	G	10: 122,743,476 (GRCm39)	D400G	possibly damaging	Het
Rps6ka1	A	T	4: 133,588,181 (GRCm39)	S320T	probably damaging	Het
Rsph6a	C	T	7: 18,788,793 (GRCm39)	R42*	probably null	Het
Sap130	T	C	18: 31,848,496 (GRCm39)	L967P	probably damaging	Het
Smyd2	T	C	1: 189,629,667 (GRCm39)	E121G	possibly damaging	Het
Sspo	G	A	6: 48,426,413 (GRCm39)	W144*	probably null	Het
Taar6	A	G	10: 23,860,970 (GRCm39)	V192A	probably benign	Het
Trim16	T	C	11: 62,711,530 (GRCm39)	I67T	probably benign	Het
Ttll7	A	G	3: 146,615,337 (GRCm39)	D267G	possibly damaging	Het
Ttn	T	C	2: 76,720,073 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,447,016 (GRCm39)	I379F	probably damaging	Het
Zfp14	T	C	7: 29,737,510 (GRCm39)	T492A	probably damaging	Het

Other mutations in Tbc1d24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-21