Mutagenetix > Incidental Mutation

Incidental Mutation 'R8558:Tbc1d24'

660886

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d24

Ensembl Gene

ENSMUSG00000036473

Gene Name

TBC1 domain family, member 24

Synonyms

C530046L02Rik

MMRRC Submission

068521-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24394405-24424536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24427903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 20 (S20G)

Ref Sequence

ENSEMBL: ENSMUSP00000024931 (fasta)

Gene Model

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

AlphaFold

Q3UUG6

Predicted Effect

unknown
Transcript: ENSMUST00000024931
AA Change: S20G

SMART Domains

Protein: ENSMUSP00000024931
Gene: ENSMUSG00000036473
AA Change: S20G

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

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

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

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: 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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,430,497 (GRCm39)	R51S	probably benign	Het
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Abcb5	T	C	12: 118,841,566 (GRCm39)	T960A	probably benign	Het
Abcc3	A	G	11: 94,242,623 (GRCm39)		probably null	Het
Adamtsl3	A	T	7: 82,077,600 (GRCm39)	D95V	possibly damaging	Het
Ash1l	T	A	3: 88,891,713 (GRCm39)	S1197R	probably damaging	Het
BC034090	T	A	1: 155,097,085 (GRCm39)	H671L	possibly damaging	Het
Bltp1	T	A	3: 37,102,750 (GRCm39)	M1443K		Het
Btnl9	T	C	11: 49,071,619 (GRCm39)	E68G	probably benign	Het
C1qtnf1	A	T	11: 118,339,149 (GRCm39)	Y273F	probably damaging	Het
C4b	A	T	17: 34,955,541 (GRCm39)	C714S	probably damaging	Het
Carmil1	G	A	13: 24,209,863 (GRCm39)	T1204I	probably benign	Het
Cdk12	T	C	11: 98,101,915 (GRCm39)	L591P	unknown	Het
Ces2f	T	A	8: 105,679,758 (GRCm39)	L417*	probably null	Het
Chl1	T	A	6: 103,685,390 (GRCm39)	S810R	probably benign	Het
Ckap2	A	G	8: 22,658,811 (GRCm39)	V644A	possibly damaging	Het
Ctdsp2	T	A	10: 126,829,746 (GRCm39)	V126E	probably damaging	Het
Dok6	G	T	18: 89,492,066 (GRCm39)	H170Q	probably damaging	Het
Dynlrb1	T	C	2: 155,084,728 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,083,795 (GRCm39)	L757S	probably damaging	Het
Epas1	A	C	17: 87,116,896 (GRCm39)	T189P	possibly damaging	Het
Epha10	C	A	4: 124,788,777 (GRCm39)	N283K		Het
Epha5	C	A	5: 84,206,975 (GRCm39)	G853C	probably damaging	Het
Gapvd1	A	T	2: 34,594,493 (GRCm39)	H831Q	probably damaging	Het
Gcnt3	T	A	9: 69,941,996 (GRCm39)	K191*	probably null	Het
Gm14226	T	A	2: 154,866,909 (GRCm39)	S289T	probably benign	Het
Gm4846	T	A	1: 166,314,674 (GRCm39)	D323V	probably damaging	Het
Golga3	G	T	5: 110,356,421 (GRCm39)	R1036L	possibly damaging	Het
Gopc	T	C	10: 52,229,580 (GRCm39)	Q213R	probably damaging	Het
Hrh1	G	A	6: 114,457,564 (GRCm39)	V282M	probably benign	Het
Ighv5-4	T	C	12: 113,561,078 (GRCm39)	Y114C	probably damaging	Het
Igkv10-94	A	T	6: 68,681,636 (GRCm39)	I68N	probably damaging	Het
Kcnj3	A	G	2: 55,336,875 (GRCm39)	D247G	possibly damaging	Het
Lcn6	C	A	2: 25,570,718 (GRCm39)	S102Y	probably damaging	Het
Matk	C	A	10: 81,096,765 (GRCm39)	H232N	probably benign	Het
Mcm9	C	T	10: 53,492,068 (GRCm39)	V366I	probably benign	Het
Nadk	A	G	4: 155,669,844 (GRCm39)	I176V	probably benign	Het
Nlrp12	A	G	7: 3,298,111 (GRCm39)	L20P	probably damaging	Het
Oga	T	C	19: 45,746,511 (GRCm39)	S763G	probably benign	Het
Or10ag56	A	T	2: 87,139,583 (GRCm39)	Q170L	probably benign	Het
Or1e21	G	A	11: 73,344,309 (GRCm39)	S243F	probably damaging	Het
Or4a72	A	G	2: 89,405,329 (GRCm39)	L247P	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,237 (GRCm39)	D648E	probably damaging	Het
Pkd1l3	A	T	8: 110,362,012 (GRCm39)	N1018I	probably damaging	Het
Plch2	T	C	4: 155,083,391 (GRCm39)	K516E	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnma2	C	T	14: 67,153,972 (GRCm39)	A132V	probably benign	Het
Prkn	T	C	17: 11,456,472 (GRCm39)	S99P	probably benign	Het
Prune2	A	G	19: 17,099,602 (GRCm39)	E1702G	probably damaging	Het
Qars1	T	A	9: 108,392,422 (GRCm39)	H756Q	probably benign	Het
Rab5a	A	G	17: 53,790,877 (GRCm39)		probably benign	Het
Rars2	A	G	4: 34,657,199 (GRCm39)	D515G	probably damaging	Het
Rpe65	T	A	3: 159,320,429 (GRCm39)	C329S	probably damaging	Het
Rps6ka2	G	A	17: 7,523,316 (GRCm39)	V231M	possibly damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Scrt1	G	T	15: 76,403,843 (GRCm39)	S49*	probably null	Het
Sec23b	C	G	2: 144,428,308 (GRCm39)	D640E	possibly damaging	Het
Setdb1	C	T	3: 95,261,979 (GRCm39)	V96M	possibly damaging	Het
Sik3	C	A	9: 46,066,746 (GRCm39)	A175E	probably damaging	Het
Smarcad1	A	G	6: 65,060,908 (GRCm39)	K463E	probably benign	Het
Sobp	A	C	10: 43,003,888 (GRCm39)	C154G	probably damaging	Het
Sox6	A	G	7: 115,141,033 (GRCm39)	S482P	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spink11	T	A	18: 44,324,748 (GRCm39)	R75*	probably null	Het
Sptb	T	C	12: 76,659,561 (GRCm39)	H1113R	probably benign	Het
Sypl2	A	T	3: 108,125,004 (GRCm39)	V119E	probably damaging	Het
Tektl1	T	C	10: 78,583,035 (GRCm39)	K450E	probably damaging	Het
Top2a	A	T	11: 98,912,549 (GRCm39)	V106D	probably damaging	Het
Tspyl4	G	C	10: 34,174,261 (GRCm39)	R251P	probably damaging	Het
Ttc21a	T	A	9: 119,787,835 (GRCm39)	L801Q	probably damaging	Het
Vgll3	A	G	16: 65,624,844 (GRCm39)	E64G	probably damaging	Het
Vmn2r30	A	G	7: 7,315,655 (GRCm39)	I726T	possibly damaging	Het
Vmn2r81	T	C	10: 79,106,467 (GRCm39)	S482P	possibly damaging	Het
Wasf1	T	G	10: 40,806,648 (GRCm39)	M97R	possibly damaging	Het
Wdr33	T	A	18: 31,962,947 (GRCm39)	M98K	probably benign	Het
Wdr73	G	A	7: 80,548,254 (GRCm39)	T95I	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
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
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'- TGCTATCTTGGCACTGCAG -3'

Sequencing Primer
(F):5'- CAGAGAGGACTTGCAGTGCC -3'
(R):5'- TATCTTGGCACTGCAGACCCG -3'

Posted On

2021-03-08