Mutagenetix > Incidental Mutation

Incidental Mutation 'R6358:Tbc1d10b'

513337

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d10b

Ensembl Gene

ENSMUSG00000042492

Gene Name

TBC1 domain family, member 10b

Synonyms

1110003P22Rik

MMRRC Submission

044508-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.518) question?

Stock #

R6358 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126796631-126807640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126802584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 362 (S362G)

Ref Sequence

ENSEMBL: ENSMUSP00000113307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120705]

AlphaFold

Q8BHL3

Predicted Effect

probably benign
Transcript: ENSMUST00000120705
AA Change: S362G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492
AA Change: S362G

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: ENSMUST00000153857

Predicted Effect

unknown
Transcript: ENSMUST00000205620
AA Change: S28G

Meta Mutation Damage Score

0.0796

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,279,718 (GRCm39)	V703A	probably benign	Het
Adgrv1	T	A	13: 81,562,702 (GRCm39)	Q5389L	probably damaging	Het
Aldh18a1	A	T	19: 40,566,122 (GRCm39)	I42N	possibly damaging	Het
Ankrd28	A	C	14: 31,432,821 (GRCm39)	C575W	probably damaging	Het
Car14	T	A	3: 95,805,487 (GRCm39)	T329S	possibly damaging	Het
Cdhr2	T	C	13: 54,884,359 (GRCm39)	F1298S	probably damaging	Het
Crhr2	A	G	6: 55,070,028 (GRCm39)	I341T	probably benign	Het
D5Ertd579e	T	A	5: 36,773,580 (GRCm39)		probably null	Het
Eif1ad3	A	G	12: 87,843,770 (GRCm39)	E139G	unknown	Het
Emilin1	A	G	5: 31,075,562 (GRCm39)	E601G	probably damaging	Het
Erbin	T	A	13: 103,982,073 (GRCm39)	Q456L	probably damaging	Het
Glp1r	T	C	17: 31,151,618 (GRCm39)	V405A	probably benign	Het
Gm10220	C	G	5: 26,325,303 (GRCm39)		probably null	Het
Gm527	A	T	12: 64,970,322 (GRCm39)	H219L	possibly damaging	Het
Gorasp2	T	A	2: 70,503,104 (GRCm39)	M1K	probably null	Het
H2-DMa	T	A	17: 34,356,958 (GRCm39)	L152H	probably damaging	Het
Hsd3b7	T	A	7: 127,400,709 (GRCm39)	H54Q	probably damaging	Het
Hspa12b	T	C	2: 130,978,986 (GRCm39)		probably benign	Het
Iars1	C	A	13: 49,880,619 (GRCm39)	T1006K	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,718 (GRCm39)	V1357A	probably benign	Het
Magi3	T	C	3: 103,958,268 (GRCm39)	M606V	probably damaging	Het
Mia	T	C	7: 26,880,403 (GRCm39)	D24G	probably benign	Het
Mon2	A	T	10: 122,849,409 (GRCm39)	L1297Q	probably damaging	Het
Musk	T	A	4: 58,373,171 (GRCm39)	S691T	possibly damaging	Het
Myo5c	A	T	9: 75,203,294 (GRCm39)	E1463D	possibly damaging	Het
Ndufs6	C	T	13: 73,468,438 (GRCm39)	G87D	probably damaging	Het
Npnt	C	T	3: 132,610,479 (GRCm39)	V415I	probably benign	Het
Ntsr2	A	G	12: 16,706,769 (GRCm39)	I266V	probably benign	Het
Or11j4	A	T	14: 50,630,845 (GRCm39)	I211F	possibly damaging	Het
Or5aq7	T	C	2: 86,938,778 (GRCm39)		probably benign	Het
Pkmyt1	T	A	17: 23,952,630 (GRCm39)		probably null	Het
Polr1e	T	C	4: 45,026,813 (GRCm39)	L166P	probably damaging	Het
Ppib	T	G	9: 65,968,756 (GRCm39)	F48C	probably damaging	Het
Ppl	C	A	16: 4,905,793 (GRCm39)	E1501*	probably null	Het
Prpf8	T	C	11: 75,382,321 (GRCm39)	V384A	probably benign	Het
Ptch1	T	G	13: 63,661,503 (GRCm39)	S1212R	probably damaging	Het
Ralb	C	A	1: 119,403,735 (GRCm39)	D131Y	probably damaging	Het
Rfx4	T	A	10: 84,680,099 (GRCm39)	M141K	probably damaging	Het
Rgl2	T	A	17: 34,156,105 (GRCm39)		probably null	Het
Rpl27	A	G	11: 101,334,782 (GRCm39)		probably benign	Het
Sdc1	A	C	12: 8,841,297 (GRCm39)	T213P	probably damaging	Het
Setx	T	A	2: 29,061,360 (GRCm39)	N2256K	possibly damaging	Het
Shank2	A	G	7: 143,585,034 (GRCm39)	M12V	probably benign	Het
Slc22a28	T	A	19: 8,049,253 (GRCm39)	K332M	probably damaging	Het
Slf2	A	T	19: 44,923,864 (GRCm39)	H226L	probably benign	Het
Tbxas1	G	A	6: 38,929,046 (GRCm39)		probably benign	Het
Tctn1	A	G	5: 122,399,575 (GRCm39)	V83A	probably damaging	Het
Tgm4	A	G	9: 122,885,583 (GRCm39)	E375G	probably damaging	Het
Tmeff2	T	A	1: 51,172,273 (GRCm39)	Y247*	probably null	Het
Tmem167b	C	T	3: 108,466,211 (GRCm39)	R79H	possibly damaging	Het
Tmprss7	T	G	16: 45,489,936 (GRCm39)	M429L	probably benign	Het
Tnfsf18	T	A	1: 161,331,148 (GRCm39)	D99E	probably benign	Het
Tnrc18	A	T	5: 142,713,736 (GRCm39)	S2534T	probably damaging	Het
Tnxb	A	G	17: 34,897,968 (GRCm39)	E872G	probably damaging	Het
Tomm40l	C	T	1: 171,047,206 (GRCm39)	V237I	possibly damaging	Het
Trbv2	A	G	6: 41,024,836 (GRCm39)	Q84R	probably benign	Het
Tspan18	T	C	2: 93,040,219 (GRCm39)	R179G	probably benign	Het
Tspan8	G	T	10: 115,669,132 (GRCm39)	V56L	probably benign	Het
Zbtb22	T	C	17: 34,137,711 (GRCm39)	S619P	probably damaging	Het
Zfp2	A	T	11: 50,791,428 (GRCm39)	I205N	probably damaging	Het
Zfpm1	A	G	8: 123,063,850 (GRCm39)		probably benign	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
R5517:Tbc1d10b	UTSW	7	126,797,779 (GRCm39)	missense	possibly damaging	0.93
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
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'- AGGTCCTTCTCAATCACATCG -3'
(R):5'- TTAAACTGTAGCCAGGCCAGG -3'

Sequencing Primer
(F):5'- AATCACATCGAGCCACTTGGGG -3'
(R):5'- AGGTCCAACGTTGTCACATCTGG -3'

Posted On

2018-04-27