Mutagenetix > Incidental Mutation

Incidental Mutation 'R6764:Tbc1d24'

531834

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d24

Ensembl Gene

ENSMUSG00000036473

Gene Name

TBC1 domain family, member 24

Synonyms

C530046L02Rik

MMRRC Submission

044880-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6764 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24394405-24424536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24404754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 130 (F130C)

Ref Sequence

ENSEMBL: ENSMUSP00000144575 (fasta)

Gene Model

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

AlphaFold

Q3UUG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040474
AA Change: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036458
Gene: ENSMUSG00000036473
AA Change: F130C

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: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094989
Gene: ENSMUSG00000036473
AA Change: F130C

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: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127005
Gene: ENSMUSG00000036473
AA Change: F130C

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: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126107
Gene: ENSMUSG00000036473
AA Change: F130C

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: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128868
Gene: ENSMUSG00000036473
AA Change: F130C

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: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128001
Gene: ENSMUSG00000036473
AA Change: F130C

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: ENSMUST00000201089
AA Change: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144250
Gene: ENSMUSG00000036473
AA Change: F130C

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: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143949
Gene: ENSMUSG00000036473
AA Change: F130C

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
AA Change: F130C

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144026
Gene: ENSMUSG00000036473
AA Change: F130C

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: ENSMUST00000201583

SMART Domains

Protein: ENSMUSP00000144097
Gene: ENSMUSG00000036473

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201805
AA Change: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143883
Gene: ENSMUSG00000036473
AA Change: F130C

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: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144208
Gene: ENSMUSG00000036473
AA Change: F130C

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: ENSMUST00000202853
AA Change: F130C

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144462
Gene: ENSMUSG00000107169
AA Change: F130C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202925
AA Change: F130C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144575
Gene: ENSMUSG00000036473
AA Change: F130C

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (39/39)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	G	T	11: 53,290,657 (GRCm39)	R539L	probably damaging	Het
Aox1	T	A	1: 58,389,441 (GRCm39)	Y1147N	probably damaging	Het
Arhgef25	A	G	10: 127,019,970 (GRCm39)	F423L	probably damaging	Het
Atp1a2	A	T	1: 172,112,181 (GRCm39)	D571E	probably benign	Het
Bank1	A	G	3: 135,948,701 (GRCm39)	S159P	probably damaging	Het
Bcan	C	A	3: 87,895,685 (GRCm39)	R817L	probably damaging	Het
Cacna1g	A	G	11: 94,304,014 (GRCm39)	S1990P	possibly damaging	Het
Ccna1	G	A	3: 54,953,499 (GRCm39)	T368M	probably damaging	Het
Chia1	T	C	3: 106,038,056 (GRCm39)		probably null	Het
Ctbp1	T	C	5: 33,416,589 (GRCm39)	H136R	possibly damaging	Het
Dner	T	G	1: 84,472,502 (GRCm39)	D366A	probably damaging	Het
Eif3d	A	T	15: 77,845,886 (GRCm39)	D378E	probably damaging	Het
Evpl	A	G	11: 116,113,770 (GRCm39)	S1307P	probably damaging	Het
Fgd5	T	A	6: 91,966,402 (GRCm39)	N720K	probably damaging	Het
Fmn1	A	G	2: 113,355,560 (GRCm39)	E667G	unknown	Het
Gm4846	A	G	1: 166,319,121 (GRCm39)	C206R	probably benign	Het
Grpel1	G	A	5: 36,622,569 (GRCm39)	R11H	probably benign	Het
Gsn	A	G	2: 35,174,056 (GRCm39)	Y55C	probably damaging	Het
Hephl1	G	A	9: 15,000,217 (GRCm39)	T345I	possibly damaging	Het
Ints2	T	A	11: 86,103,605 (GRCm39)	K1150N	probably benign	Het
Itga4	C	A	2: 79,155,958 (GRCm39)	H975N	probably benign	Het
Musk	T	C	4: 58,354,027 (GRCm39)	V360A	probably damaging	Het
Naalad2	A	T	9: 18,314,185 (GRCm39)		probably benign	Het
Ninj2	G	T	6: 120,175,011 (GRCm39)	A51S	probably benign	Het
Nscme3l	A	G	19: 5,552,900 (GRCm39)	S294P	probably damaging	Het
Pcdhac1	T	C	18: 37,223,732 (GRCm39)	Y182H	probably damaging	Het
Pitpnm3	A	G	11: 71,942,059 (GRCm39)	F916S	probably damaging	Het
Sfrp5	T	A	19: 42,188,238 (GRCm39)	M194L	probably benign	Het
Sigirr	C	T	7: 140,673,155 (GRCm39)	V99I	probably benign	Het
Smco2	A	G	6: 146,772,827 (GRCm39)	D343G	probably damaging	Het
Snap91	A	G	9: 86,674,234 (GRCm39)	I584T	probably benign	Het
Syne1	G	A	10: 5,179,011 (GRCm39)	Q4488*	probably null	Het
Trpm7	A	G	2: 126,686,340 (GRCm39)	V296A	possibly damaging	Het
Ttll11	T	C	2: 35,780,460 (GRCm39)		probably null	Het
Vmn2r115	A	G	17: 23,565,046 (GRCm39)	D311G	probably damaging	Het
Vmn2r63	A	G	7: 42,552,695 (GRCm39)	S854P	probably damaging	Het
Zfp330	C	T	8: 83,493,934 (GRCm39)	C109Y	probably damaging	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp62	A	G	11: 49,105,996 (GRCm39)	D29G	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
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
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'- AGGTCCCCAAATGTCATACAGG -3'
(R):5'- AAGTGTACCAGCGCCTGATC -3'

Sequencing Primer
(F):5'- TGTCATACAGGAAGACTCAAAGGCC -3'
(R):5'- TGATGCCAGCGTGTACAG -3'

Posted On

2018-08-29