Mutagenetix > Incidental Mutation

Incidental Mutation 'R2520:Tbc1d10b'

254360

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d10b

Ensembl Gene

ENSMUSG00000042492

Gene Name

TBC1 domain family, member 10b

Synonyms

1110003P22Rik

MMRRC Submission

040424-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.546) question?

Stock #

R2520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126796631-126807640 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 126799455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

probably null
Transcript: ENSMUST00000120705

SMART Domains

Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492

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

probably null
Transcript: ENSMUST00000205620

Predicted Effect

probably null
Transcript: ENSMUST00000205620

Predicted Effect

probably benign
Transcript: ENSMUST00000206587

Predicted Effect

probably benign
Transcript: ENSMUST00000205355

Predicted Effect

probably benign
Transcript: ENSMUST00000206026

Predicted Effect

probably benign
Transcript: ENSMUST00000205321

Predicted Effect

probably benign
Transcript: ENSMUST00000206081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153857

Predicted Effect

probably benign
Transcript: ENSMUST00000205316

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	T	5: 3,625,773 (GRCm39)	N70I	probably damaging	Het
4930503B20Rik	G	A	3: 146,356,261 (GRCm39)	R216W	probably damaging	Het
Abcb9	C	T	5: 124,218,091 (GRCm39)		probably null	Het
Arhgdia	A	T	11: 120,470,852 (GRCm39)	V72E	probably damaging	Het
Arsb	A	T	13: 94,077,207 (GRCm39)	K525*	probably null	Het
Bckdha	A	C	7: 25,341,124 (GRCm39)	I79S	probably benign	Het
Carm1	G	A	9: 21,494,893 (GRCm39)		probably null	Het
Cers5	G	A	15: 99,634,262 (GRCm39)	T362I	probably damaging	Het
Clec4b2	T	A	6: 123,177,942 (GRCm39)	F86I	probably damaging	Het
Crispld1	G	A	1: 17,821,000 (GRCm39)	D347N	probably damaging	Het
Csf3r	A	T	4: 125,929,145 (GRCm39)	T352S	probably benign	Het
Daam2	G	A	17: 49,787,785 (GRCm39)	Q443*	probably null	Het
Dcbld1	A	G	10: 52,195,641 (GRCm39)	D283G	probably damaging	Het
Dpp9	T	C	17: 56,513,868 (GRCm39)	E82G	probably damaging	Het
Dync1li1	A	G	9: 114,518,074 (GRCm39)	D42G	probably null	Het
Eml6	T	C	11: 29,741,993 (GRCm39)	H1130R	probably damaging	Het
Enox1	A	T	14: 77,819,839 (GRCm39)	Y198F	probably damaging	Het
Epop	A	G	11: 97,519,554 (GRCm39)	L185P	probably benign	Het
Frem1	A	T	4: 82,868,527 (GRCm39)	C1485S	probably damaging	Het
Gbf1	T	A	19: 46,253,806 (GRCm39)	S571T	probably benign	Het
Gm5965	A	T	16: 88,575,414 (GRCm39)	I196F	probably null	Het
Gm8237	T	A	14: 5,863,642 (GRCm38)	I8L	possibly damaging	Het
Gria2	A	C	3: 80,614,269 (GRCm39)	N590K	probably damaging	Het
Hectd2	T	A	19: 36,589,633 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,619,398 (GRCm39)	T1239S	possibly damaging	Het
Hps3	A	T	3: 20,083,194 (GRCm39)	D167E	probably damaging	Het
Htr1a	A	G	13: 105,581,881 (GRCm39)	S374G	probably benign	Het
Il16	C	T	7: 83,301,202 (GRCm39)	G307S	probably benign	Het
Ipmk	T	C	10: 71,217,047 (GRCm39)	F198S	probably damaging	Het
Lyz2	T	A	10: 117,114,558 (GRCm39)	I124F	probably damaging	Het
Maea	T	C	5: 33,515,854 (GRCm39)	V47A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgpra1	A	T	7: 46,985,020 (GRCm39)	C220S	possibly damaging	Het
Myo5c	A	T	9: 75,204,931 (GRCm39)	K1595*	probably null	Het
Naga	G	T	15: 82,214,295 (GRCm39)	D405E	probably benign	Het
Nanog	T	A	6: 122,690,418 (GRCm39)	N249K	probably benign	Het
Nhlh1	G	T	1: 171,881,570 (GRCm39)	R99S	probably damaging	Het
Ntrk2	T	A	13: 59,202,090 (GRCm39)		probably null	Het
Nudt2	A	G	4: 41,480,354 (GRCm39)	E79G	probably benign	Het
Or2ad1	A	T	13: 21,326,746 (GRCm39)	C160*	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or52n2	T	A	7: 104,542,080 (GRCm39)	I252F	probably benign	Het
Pitpnm2	T	C	5: 124,267,464 (GRCm39)	D592G	probably damaging	Het
Prps1l3	T	C	12: 57,285,369 (GRCm39)	V53A	probably damaging	Het
Psmd2	T	G	16: 20,481,826 (GRCm39)	V853G	probably damaging	Het
Pycard	A	G	7: 127,592,677 (GRCm39)	I50T	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf168	T	A	16: 32,097,221 (GRCm39)	S99T	probably benign	Het
Rph3al	A	G	11: 75,797,373 (GRCm39)	S108P	possibly damaging	Het
Sdk1	G	A	5: 142,071,526 (GRCm39)	A979T	probably benign	Het
Sec16a	G	A	2: 26,331,368 (GRCm39)	Q216*	probably null	Het
Slc35f3	T	A	8: 127,121,312 (GRCm39)	V391E	possibly damaging	Het
Slf1	T	A	13: 77,199,384 (GRCm39)	I666F	probably damaging	Het
Slfn14	A	G	11: 83,167,013 (GRCm39)	V834A	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tmeff1	T	A	4: 48,604,679 (GRCm39)	C91S	probably damaging	Het
Tmem108	G	T	9: 103,366,481 (GRCm39)	N503K	possibly damaging	Het
Trbv28	A	G	6: 41,248,541 (GRCm39)	T24A	probably damaging	Het
Trim34b	A	G	7: 103,980,446 (GRCm39)	E178G	probably damaging	Het
Trmt1l	T	A	1: 151,329,696 (GRCm39)	H546Q	probably benign	Het
Ttc39d	A	G	17: 80,523,799 (GRCm39)	I153V	probably benign	Het
Ttll13	T	C	7: 79,899,964 (GRCm39)	V101A	probably damaging	Het
Ubash3b	A	T	9: 40,926,243 (GRCm39)	H501Q	probably damaging	Het
Upf3a	T	A	8: 13,846,443 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,352,562 (GRCm39)	S94G	probably benign	Het
Wdr86	T	C	5: 24,917,573 (GRCm39)	*381W	probably null	Het
Wdr90	G	A	17: 26,074,326 (GRCm39)	P680S	probably damaging	Het
Zbtb22	G	A	17: 34,135,956 (GRCm39)	V34M	probably damaging	Het
Zbtb8a	A	G	4: 129,253,689 (GRCm39)		probably null	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp512b	A	G	2: 181,231,295 (GRCm39)	V295A	probably damaging	Het
Zfp608	A	T	18: 55,121,578 (GRCm39)	V3E	possibly damaging	Het
Zfp748	G	T	13: 67,694,781 (GRCm39)	D32E	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
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
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'- TGCACTGTAGTAACCTGGGAG -3'
(R):5'- TGGCTGTCTGGTAGTAAAGC -3'

Sequencing Primer
(F):5'- AGGTACTTGTCGCAGATCTGTACC -3'
(R):5'- ACTTGATGTGAGAGTACTGATCCAG -3'

Posted On

2014-12-04