Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Tbc1d10b'

489265

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d10b

Ensembl Gene

ENSMUSG00000042492

Gene Name

TBC1 domain family, member 10b

Synonyms

MMRRC Submission

044298-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.546) question?

Stock #

R6151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127197459-127208468 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127207996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 123 (T123M)

Ref Sequence

ENSEMBL: ENSMUSP00000113307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032910] [ENSMUST00000120705] [ENSMUST00000127710] [ENSMUST00000206204] [ENSMUST00000206772]

AlphaFold

Q8BHL3

Predicted Effect

probably benign
Transcript: ENSMUST00000032910

SMART Domains

Protein: ENSMUSP00000032910
Gene: ENSMUSG00000030672

Domain	Start	End	E-Value	Type
EFh	29	57	9.77e-5	SMART
EFh	99	127	4.45e1	SMART
Blast:EFh	135	163	2e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000120705
AA Change: T123M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492
AA Change: T123M

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

probably benign
Transcript: ENSMUST00000127710

SMART Domains

Protein: ENSMUSP00000120915
Gene: ENSMUSG00000030672

Domain	Start	End	E-Value	Type
Pfam:EF-hand_8	7	34	9.7e-3	PFAM
Pfam:EF-hand_1	9	37	1.6e-6	PFAM
Pfam:EF-hand_6	9	38	1.6e-6	PFAM
Pfam:EF-hand_8	21	54	5.1e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147520

Predicted Effect

probably benign
Transcript: ENSMUST00000205620

Predicted Effect

probably benign
Transcript: ENSMUST00000206204

Predicted Effect

probably benign
Transcript: ENSMUST00000206772

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,171,486 (GRCm38)		probably null	Het
4930550C14Rik	G	T	9: 53,414,383 (GRCm38)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm38)	V517A	probably benign	Het
Adck5	A	T	15: 76,594,687 (GRCm38)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,025,792 (GRCm38)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,574,252 (GRCm38)	R51*	probably null	Het
Arhgap23	A	G	11: 97,500,412 (GRCm38)	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,917,942 (GRCm38)	T354A	probably benign	Het
Arid1a	G	T	4: 133,684,976 (GRCm38)	Q1636K	unknown	Het
Asmt	C	T	X: 170,676,467 (GRCm38)	A237V	possibly damaging	Het
Brat1	T	A	5: 140,705,961 (GRCm38)	C43S	probably benign	Het
Cd36	T	C	5: 17,795,595 (GRCm38)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 18,069,105 (GRCm38)	L145F	probably benign	Het
Col24a1	C	T	3: 145,314,054 (GRCm38)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,813,753 (GRCm38)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,304,660 (GRCm38)	L140P	probably damaging	Het
Dhrs13	G	A	11: 78,036,982 (GRCm38)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,853,353 (GRCm38)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,292,281 (GRCm38)	F20C	probably damaging	Het
Enpep	T	C	3: 129,332,418 (GRCm38)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,318,480 (GRCm38)		probably null	Het
Eprs1	G	T	1: 185,407,754 (GRCm38)		probably null	Het
Etl4	T	A	2: 20,713,360 (GRCm38)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,491,745 (GRCm38)	S89*	probably null	Het
F5	A	T	1: 164,181,635 (GRCm38)	I325F	probably damaging	Het
F5	G	A	1: 164,190,187 (GRCm38)	C611Y	probably damaging	Het
Fam133b	A	T	5: 3,559,133 (GRCm38)	S116C	probably null	Het
Fam13b	A	T	18: 34,494,277 (GRCm38)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,093,630 (GRCm38)	Y58D	probably damaging	Het
Far1	G	A	7: 113,561,396 (GRCm38)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,570,930 (GRCm38)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,623,271 (GRCm38)	Q469K	unknown	Het
Frs3	A	T	17: 47,689,088 (GRCm38)		probably benign	Het
Gdpd3	A	G	7: 126,775,502 (GRCm38)	S290G	probably benign	Het
Gmip	T	A	8: 69,817,085 (GRCm38)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,864,025 (GRCm38)	I176N	probably damaging	Het
Grm3	A	G	5: 9,511,556 (GRCm38)	F765L	probably damaging	Het
Hhat	A	T	1: 192,759,757 (GRCm38)	L2Q	probably damaging	Het
Hspbap1	T	C	16: 35,817,222 (GRCm38)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,461,289 (GRCm38)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,295,668 (GRCm38)	K50*	probably null	Het
Kidins220	T	C	12: 25,056,909 (GRCm38)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,988,853 (GRCm38)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,824,854 (GRCm38)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,921,213 (GRCm38)	D806V	probably benign	Het
Krt26	T	C	11: 99,337,489 (GRCm38)	E139G	probably benign	Het
Lefty1	T	C	1: 180,935,116 (GRCm38)	F3L	unknown	Het
Madd	A	C	2: 91,165,457 (GRCm38)	Y853*	probably null	Het
Map1a	T	A	2: 121,289,823 (GRCm38)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm38)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,295,020 (GRCm38)	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,669,025 (GRCm38)		probably null	Het
Mpp3	C	A	11: 102,008,566 (GRCm38)	R376S	probably benign	Het
Ncoa4-ps	T	G	12: 119,261,106 (GRCm38)		noncoding transcript	Het
Nup160	T	A	2: 90,690,105 (GRCm38)	Y293*	probably null	Het
Nup58	A	T	14: 60,244,616 (GRCm38)	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,326,191 (GRCm38)	L255V	probably benign	Het
Or10ab4	A	G	7: 108,055,899 (GRCm38)	I306V	probably benign	Het
Or1e30	T	A	11: 73,787,695 (GRCm38)	Y252*	probably null	Het
Or2l5	A	T	16: 19,515,531 (GRCm38)	L35Q	probably damaging	Het
Or4d11	T	C	19: 12,036,736 (GRCm38)	E2G	probably benign	Het
Padi3	A	T	4: 140,796,394 (GRCm38)	D248E	probably damaging	Het
Paxip1	G	T	5: 27,761,618 (GRCm38)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,601,551 (GRCm38)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,575,606 (GRCm38)	H2089R	probably benign	Het
Plaat5	C	T	19: 7,619,291 (GRCm38)	P148S	probably damaging	Het
Prpf40a	T	C	2: 53,157,915 (GRCm38)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,878,279 (GRCm38)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm38)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,507,827 (GRCm38)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,152,068 (GRCm38)	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,317,390 (GRCm38)	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,689,376 (GRCm38)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,690,563 (GRCm38)	V58I	possibly damaging	Het
Slfn8	T	A	11: 83,017,321 (GRCm38)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,156,207 (GRCm38)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,212,047 (GRCm38)	V374L	probably benign	Het
Tenm2	A	C	11: 36,008,783 (GRCm38)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,395,573 (GRCm38)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,737,851 (GRCm38)	M355L	probably benign	Het
Tns4	C	T	11: 99,075,550 (GRCm38)	S433N	probably benign	Het
Traip	G	T	9: 107,970,619 (GRCm38)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm38)	R2C	probably damaging	Het
Ttn	A	T	2: 76,944,160 (GRCm38)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm38)	D380G	probably benign	Het
Ube2t	T	A	1: 134,967,960 (GRCm38)		probably null	Het
Ugdh	A	T	5: 65,417,581 (GRCm38)	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm38)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,361,914 (GRCm38)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 20,101,435 (GRCm38)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,801,670 (GRCm38)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,583,959 (GRCm38)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,903,465 (GRCm38)		probably null	Het
Vwf	A	G	6: 125,657,065 (GRCm38)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,778,710 (GRCm38)		probably null	Het
Zfp458	T	A	13: 67,257,598 (GRCm38)	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,769,910 (GRCm38)	V1051A	probably benign	Het
Zfp998	A	T	13: 66,431,681 (GRCm38)	C248S	probably damaging	Het

Other mutations in Tbc1d10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Tbc1d10b	APN	7	127,199,081 (GRCm38)	missense	probably damaging	0.97
R0318:Tbc1d10b	UTSW	7	127,199,034 (GRCm38)	missense	probably damaging	1.00
R1480:Tbc1d10b	UTSW	7	127,203,778 (GRCm38)	missense	probably benign
R1793:Tbc1d10b	UTSW	7	127,203,758 (GRCm38)	missense	possibly damaging	0.48
R1971:Tbc1d10b	UTSW	7	127,207,864 (GRCm38)	missense	probably benign	0.37
R2520:Tbc1d10b	UTSW	7	127,200,283 (GRCm38)	critical splice donor site	probably null
R3887:Tbc1d10b	UTSW	7	127,199,795 (GRCm38)	missense	possibly damaging	0.53
R5517:Tbc1d10b	UTSW	7	127,198,607 (GRCm38)	missense	possibly damaging	0.93
R5780:Tbc1d10b	UTSW	7	127,198,753 (GRCm38)	missense	possibly damaging	0.58
R5912:Tbc1d10b	UTSW	7	127,199,861 (GRCm38)	missense	probably damaging	0.99
R6358:Tbc1d10b	UTSW	7	127,203,412 (GRCm38)	missense	probably benign	0.02
R6480:Tbc1d10b	UTSW	7	127,198,878 (GRCm38)	missense	probably damaging	0.99
R7075:Tbc1d10b	UTSW	7	127,203,238 (GRCm38)	missense	possibly damaging	0.90
R7731:Tbc1d10b	UTSW	7	127,198,821 (GRCm38)	missense	probably benign
R8004:Tbc1d10b	UTSW	7	127,199,011 (GRCm38)	missense	probably damaging	1.00
R8910:Tbc1d10b	UTSW	7	127,207,766 (GRCm38)	missense	probably benign
R9187:Tbc1d10b	UTSW	7	127,207,933 (GRCm38)	missense	probably benign	0.00
R9632:Tbc1d10b	UTSW	7	127,207,864 (GRCm38)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TGAAAGTTTTCAACAGGCTCCGG -3'
(R):5'- CAGGATCATCACAGACCTCG -3'

Sequencing Primer
(F):5'- TGAGGTCGCAGCTTCATGC -3'
(R):5'- GATCATCACAGACCTCGGCCTC -3'

Posted On

2017-10-10