Mutagenetix > Incidental Mutation

Incidental Mutation 'R5517:Tbc1d10b'

431349

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d10b

Ensembl Gene

ENSMUSG00000042492

Gene Name

TBC1 domain family, member 10b

Synonyms

1110003P22Rik

MMRRC Submission

043076-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.518) question?

Stock #

R5517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126796631-126807640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 126797779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 787 (R787S)

Ref Sequence

ENSEMBL: ENSMUSP00000113307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035771] [ENSMUST00000120705] [ENSMUST00000205316] [ENSMUST00000206026] [ENSMUST00000206081] [ENSMUST00000205321] [ENSMUST00000205355] [ENSMUST00000206587] [ENSMUST00000166791]

AlphaFold

Q8BHL3

Predicted Effect

probably benign
Transcript: ENSMUST00000035771

SMART Domains

Protein: ENSMUSP00000044790
Gene: ENSMUSG00000042502

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
low complexity region	156	165	N/A	INTRINSIC
low complexity region	172	193	N/A	INTRINSIC
GYF	282	339	7.35e-25	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120705
AA Change: R787S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492
AA Change: R787S

Domain	Start	End	E-Value	Type
low complexity region	10	33	N/A	INTRINSIC
low complexity region	66	81	N/A	INTRINSIC
low complexity region	129	143	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	207	227	N/A	INTRINSIC
Blast:TBC	274	305	6e-10	BLAST
TBC	343	557	8.23e-57	SMART
low complexity region	632	678	N/A	INTRINSIC
coiled coil region	701	769	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205525

Predicted Effect

probably benign
Transcript: ENSMUST00000205316

Predicted Effect

probably benign
Transcript: ENSMUST00000206026

Predicted Effect

probably benign
Transcript: ENSMUST00000206081

Predicted Effect

probably benign
Transcript: ENSMUST00000205321

Predicted Effect

probably benign
Transcript: ENSMUST00000205355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153857

Predicted Effect

probably benign
Transcript: ENSMUST00000206587

Predicted Effect

probably benign
Transcript: ENSMUST00000205620

Predicted Effect

probably benign
Transcript: ENSMUST00000166791

SMART Domains

Protein: ENSMUSP00000132963
Gene: ENSMUSG00000042502

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
low complexity region	156	165	N/A	INTRINSIC
low complexity region	172	193	N/A	INTRINSIC
GYF	282	339	7.35e-25	SMART

Meta Mutation Damage Score

0.0643

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.5%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 36,269,233 (GRCm39)	R675K	possibly damaging	Het
Aire	A	T	10: 77,875,525 (GRCm39)	S282T	probably benign	Het
Ak9	A	G	10: 41,216,887 (GRCm39)	E283G	probably benign	Het
Akap9	T	A	5: 4,051,665 (GRCm39)	D1477E	possibly damaging	Het
Ap2a1	T	C	7: 44,556,405 (GRCm39)	D273G	possibly damaging	Het
Apob	T	C	12: 8,040,906 (GRCm39)	L664P	probably damaging	Het
Arhgap35	A	T	7: 16,297,414 (GRCm39)	F550L	probably damaging	Het
Armc2	T	C	10: 41,839,846 (GRCm39)	E373G	probably benign	Het
Atp8b2	C	A	3: 89,853,338 (GRCm39)	A726S	probably benign	Het
C030048H21Rik	T	A	2: 26,145,899 (GRCm39)	Q87L	probably damaging	Het
Cd244a	T	A	1: 171,405,542 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,326 (GRCm39)		probably null	Het
Cenpe	C	A	3: 134,929,026 (GRCm39)	P310Q	probably damaging	Het
Chuk	T	A	19: 44,085,972 (GRCm39)		probably null	Het
Crebl2	T	C	6: 134,828,139 (GRCm39)	S104P	probably benign	Het
Ddo	A	G	10: 40,523,726 (GRCm39)	K239E	probably benign	Het
Defb5	A	G	8: 19,300,868 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,676,832 (GRCm39)	M422K	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gatm	G	A	2: 122,426,024 (GRCm39)	T409I	probably damaging	Het
Gdpd1	A	T	11: 86,950,332 (GRCm39)	D80E	probably damaging	Het
Gspt1	C	A	16: 11,071,843 (GRCm39)	G7C	unknown	Het
Hells	G	A	19: 38,943,244 (GRCm39)	S516N	probably benign	Het
Ints1	A	G	5: 139,738,542 (GRCm39)	S2069P	possibly damaging	Het
Kank4	G	A	4: 98,663,118 (GRCm39)	T690M	probably damaging	Het
Kcnq4	T	C	4: 120,573,006 (GRCm39)	N265S	possibly damaging	Het
Kif5b	C	A	18: 6,220,954 (GRCm39)	A385S	probably benign	Het
Map2	T	C	1: 66,454,415 (GRCm39)	S1102P	probably benign	Het
Mcm7	A	G	5: 138,163,133 (GRCm39)	S340P	possibly damaging	Het
Mcrs1	C	T	15: 99,144,876 (GRCm39)	R246H	possibly damaging	Het
Myo16	T	A	8: 10,610,226 (GRCm39)	M1189K	probably benign	Het
Or4d2	A	T	11: 87,783,892 (GRCm39)	I286N	probably damaging	Het
Or4k52	G	T	2: 111,610,804 (GRCm39)	M46I	probably benign	Het
Or7g29	G	A	9: 19,287,063 (GRCm39)	T38I	probably damaging	Het
Otog	A	G	7: 45,923,995 (GRCm39)	N1118S	probably damaging	Het
Pakap	T	C	4: 57,855,987 (GRCm39)	Y439H	probably damaging	Het
Pcdhb7	G	T	18: 37,474,846 (GRCm39)		probably benign	Het
Picalm	C	T	7: 89,819,806 (GRCm39)	T189I	possibly damaging	Het
Ptx4	T	A	17: 25,343,760 (GRCm39)	S337T	possibly damaging	Het
Rad51ap2	C	T	12: 11,508,313 (GRCm39)	S745L	probably benign	Het
Rspry1	G	A	8: 95,363,388 (GRCm39)		probably null	Het
Scn5a	T	G	9: 119,324,779 (GRCm39)	I1350L	probably damaging	Het
Sgk2	T	C	2: 162,839,755 (GRCm39)	L121P	probably damaging	Het
Slc17a1	A	T	13: 24,056,575 (GRCm39)		probably benign	Het
Slc6a12	A	G	6: 121,331,298 (GRCm39)	N183S	probably benign	Het
Smg9	C	A	7: 24,114,338 (GRCm39)		probably benign	Het
Spred1	G	A	2: 117,008,195 (GRCm39)	S367N	probably damaging	Het
Srpra	T	C	9: 35,122,646 (GRCm39)	V21A	probably benign	Het
Taar2	A	T	10: 23,816,627 (GRCm39)	I56F	possibly damaging	Het
Taf1a	T	G	1: 183,177,323 (GRCm39)	L67R	probably damaging	Het
Topbp1	T	A	9: 103,213,313 (GRCm39)	N1044K	probably benign	Het
Usp24	A	G	4: 106,232,871 (GRCm39)	T886A	probably benign	Het
Vmn2r26	A	G	6: 124,027,676 (GRCm39)	D472G	probably damaging	Het
Zyg11a	T	C	4: 108,061,943 (GRCm39)	N286S	possibly damaging	Het

Other mutations in Tbc1d10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Tbc1d10b	APN	7	126,798,253 (GRCm39)	missense	probably damaging	0.97
R0318:Tbc1d10b	UTSW	7	126,798,206 (GRCm39)	missense	probably damaging	1.00
R1480:Tbc1d10b	UTSW	7	126,802,950 (GRCm39)	missense	probably benign
R1793:Tbc1d10b	UTSW	7	126,802,930 (GRCm39)	missense	possibly damaging	0.48
R1971:Tbc1d10b	UTSW	7	126,807,036 (GRCm39)	missense	probably benign	0.37
R2520:Tbc1d10b	UTSW	7	126,799,455 (GRCm39)	critical splice donor site	probably null
R3887:Tbc1d10b	UTSW	7	126,798,967 (GRCm39)	missense	possibly damaging	0.53
R5780:Tbc1d10b	UTSW	7	126,797,925 (GRCm39)	missense	possibly damaging	0.58
R5912:Tbc1d10b	UTSW	7	126,799,033 (GRCm39)	missense	probably damaging	0.99
R6151:Tbc1d10b	UTSW	7	126,807,168 (GRCm39)	missense	probably damaging	1.00
R6358:Tbc1d10b	UTSW	7	126,802,584 (GRCm39)	missense	probably benign	0.02
R6480:Tbc1d10b	UTSW	7	126,798,050 (GRCm39)	missense	probably damaging	0.99
R7075:Tbc1d10b	UTSW	7	126,802,410 (GRCm39)	missense	possibly damaging	0.90
R7731:Tbc1d10b	UTSW	7	126,797,993 (GRCm39)	missense	probably benign
R8004:Tbc1d10b	UTSW	7	126,798,183 (GRCm39)	missense	probably damaging	1.00
R8910:Tbc1d10b	UTSW	7	126,806,938 (GRCm39)	missense	probably benign
R9187:Tbc1d10b	UTSW	7	126,807,105 (GRCm39)	missense	probably benign	0.00
R9632:Tbc1d10b	UTSW	7	126,807,036 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CATGTACGGATCAGCAGCTG -3'
(R):5'- TGGTAACAGCACCCCACTAG -3'

Sequencing Primer
(F):5'- GCAGCTGGCAAGGAGTC -3'
(R):5'- CTAGGCACCAGCAAGGAGATC -3'

Posted On

2016-10-05