Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Tbc1d8'

49296

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d8

Ensembl Gene

ENSMUSG00000003134

Gene Name

TBC1 domain family, member 8

Synonyms

GRAM domain, AD3, HBLP1, BUB2-like protein 1

MMRRC Submission

038725-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39371492-39478755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39372774 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 994 (Q994K)

Ref Sequence

ENSEMBL: ENSMUSP00000049967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054462] [ENSMUST00000086535] [ENSMUST00000178079] [ENSMUST00000179954] [ENSMUST00000192531] [ENSMUST00000193823] [ENSMUST00000194746] [ENSMUST00000195123]

AlphaFold

Q9Z1A9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054462
AA Change: Q994K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: Q994K

Domain	Start	End	E-Value	Type
low complexity region	28	49	N/A	INTRINSIC
GRAM	145	212	3.6e-20	SMART
GRAM	285	353	2.77e-21	SMART
TBC	501	714	4.51e-54	SMART
Blast:TBC	726	923	1e-120	BLAST
coiled coil region	960	991	N/A	INTRINSIC
low complexity region	1030	1045	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086535

SMART Domains

Protein: ENSMUSP00000083722
Gene: ENSMUSG00000073702

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:Ribosomal_L31e	18	101	3.1e-43	PFAM
low complexity region	102	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178079

SMART Domains

Protein: ENSMUSP00000136354
Gene: ENSMUSG00000073702

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:Ribosomal_L31e	18	101	3.1e-43	PFAM
low complexity region	102	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179954

SMART Domains

Protein: ENSMUSP00000137631
Gene: ENSMUSG00000073702

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:Ribosomal_L31e	18	101	3.1e-43	PFAM
low complexity region	102	113	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191855

Predicted Effect

probably benign
Transcript: ENSMUST00000192099

Predicted Effect

probably benign
Transcript: ENSMUST00000192531

SMART Domains

Protein: ENSMUSP00000142143
Gene: ENSMUSG00000003134

Domain	Start	End	E-Value	Type
low complexity region	28	49	N/A	INTRINSIC
low complexity region	80	98	N/A	INTRINSIC
low complexity region	144	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193823

SMART Domains

Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134

Domain	Start	End	E-Value	Type
low complexity region	28	49	N/A	INTRINSIC
GRAM	145	212	1.2e-22	SMART
GRAM	285	353	9.6e-24	SMART
TBC	501	714	2.2e-56	SMART
Blast:TBC	726	923	1e-120	BLAST
coiled coil region	960	990	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194746

SMART Domains

Protein: ENSMUSP00000141808
Gene: ENSMUSG00000073702

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:Ribosomal_L31e	18	101	3.1e-40	PFAM
low complexity region	102	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195123

SMART Domains

Protein: ENSMUSP00000142039
Gene: ENSMUSG00000073702

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:Ribosomal_L31e	18	83	7.9e-29	PFAM

Meta Mutation Damage Score

0.1255

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Tbc1d8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Tbc1d8	APN	1	39394129	missense	probably damaging	0.96
IGL01501:Tbc1d8	APN	1	39389335	missense	probably damaging	1.00
IGL01548:Tbc1d8	APN	1	39381304	missense	probably damaging	0.96
IGL01884:Tbc1d8	APN	1	39376445	missense	probably damaging	1.00
IGL01919:Tbc1d8	APN	1	39392253	missense	probably damaging	1.00
IGL02123:Tbc1d8	APN	1	39376907	missense	possibly damaging	0.54
IGL02123:Tbc1d8	APN	1	39380236	missense	probably damaging	0.98
IGL02135:Tbc1d8	APN	1	39402810	missense	probably damaging	1.00
IGL02317:Tbc1d8	APN	1	39376904	missense	probably benign	0.00
IGL02325:Tbc1d8	APN	1	39394240	missense	probably damaging	0.99
IGL02607:Tbc1d8	APN	1	39379511	missense	probably benign	0.05
R0604:Tbc1d8	UTSW	1	39405326	missense	probably damaging	1.00
R0612:Tbc1d8	UTSW	1	39372515	missense	possibly damaging	0.92
R0639:Tbc1d8	UTSW	1	39391209	missense	probably benign	0.00
R0976:Tbc1d8	UTSW	1	39406801	missense	probably damaging	1.00
R1051:Tbc1d8	UTSW	1	39381453	nonsense	probably null
R1605:Tbc1d8	UTSW	1	39391125	missense	probably benign	0.38
R1622:Tbc1d8	UTSW	1	39380236	missense	probably benign	0.00
R1710:Tbc1d8	UTSW	1	39406837	missense	possibly damaging	0.89
R2419:Tbc1d8	UTSW	1	39376902	missense	probably damaging	1.00
R2437:Tbc1d8	UTSW	1	39405287	splice site	probably null
R2862:Tbc1d8	UTSW	1	39402696	nonsense	probably null
R2870:Tbc1d8	UTSW	1	39405317	missense	probably damaging	1.00
R2870:Tbc1d8	UTSW	1	39405317	missense	probably damaging	1.00
R2872:Tbc1d8	UTSW	1	39405317	missense	probably damaging	1.00
R2872:Tbc1d8	UTSW	1	39405317	missense	probably damaging	1.00
R2873:Tbc1d8	UTSW	1	39405317	missense	probably damaging	1.00
R2874:Tbc1d8	UTSW	1	39405317	missense	probably damaging	1.00
R3759:Tbc1d8	UTSW	1	39376465	missense	probably damaging	1.00
R4127:Tbc1d8	UTSW	1	39372431	missense	probably benign	0.05
R4154:Tbc1d8	UTSW	1	39386135	missense	probably damaging	0.99
R4613:Tbc1d8	UTSW	1	39372708	missense	probably damaging	0.98
R4737:Tbc1d8	UTSW	1	39402878	missense	possibly damaging	0.63
R4738:Tbc1d8	UTSW	1	39402878	missense	possibly damaging	0.63
R4739:Tbc1d8	UTSW	1	39402878	missense	possibly damaging	0.63
R4740:Tbc1d8	UTSW	1	39402878	missense	possibly damaging	0.63
R5189:Tbc1d8	UTSW	1	39385132	missense	probably benign	0.00
R5271:Tbc1d8	UTSW	1	39373767	missense	probably damaging	0.97
R5308:Tbc1d8	UTSW	1	39389409	missense	probably damaging	1.00
R5393:Tbc1d8	UTSW	1	39426088	missense	probably damaging	0.99
R5529:Tbc1d8	UTSW	1	39372755	missense	probably benign	0.42
R5897:Tbc1d8	UTSW	1	39392109	missense	possibly damaging	0.95
R6160:Tbc1d8	UTSW	1	39372403	missense	probably damaging	0.98
R6408:Tbc1d8	UTSW	1	39402899	missense	probably damaging	0.99
R6409:Tbc1d8	UTSW	1	39372588	missense	probably benign	0.00
R6554:Tbc1d8	UTSW	1	39406822	missense	probably damaging	1.00
R6841:Tbc1d8	UTSW	1	39389374	missense	possibly damaging	0.68
R7282:Tbc1d8	UTSW	1	39372533	missense	probably benign	0.00
R7294:Tbc1d8	UTSW	1	39406762	missense	probably damaging	1.00
R7384:Tbc1d8	UTSW	1	39394098	missense	probably benign	0.00
R7718:Tbc1d8	UTSW	1	39376980	missense	probably benign	0.00
R7881:Tbc1d8	UTSW	1	39386023	missense	probably damaging	0.98
R7918:Tbc1d8	UTSW	1	39402728	missense	probably damaging	1.00
R7972:Tbc1d8	UTSW	1	39392169	missense	probably damaging	1.00
R8269:Tbc1d8	UTSW	1	39426088	missense	probably benign	0.00
R8352:Tbc1d8	UTSW	1	39405357	missense	probably damaging	1.00
R8425:Tbc1d8	UTSW	1	39381409	missense	probably damaging	1.00
R8452:Tbc1d8	UTSW	1	39405357	missense	probably damaging	1.00
R9159:Tbc1d8	UTSW	1	39405393	missense
R9712:Tbc1d8	UTSW	1	39385232	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTGCTCAGTGAGAAGGGATGC -3'
(R):5'- TGCTTGTGGGACACAACTATCACC -3'

Sequencing Primer
(F):5'- GCAAAAACTGAGTCCTGTTCG -3'
(R):5'- CTATCACCCAGTGTTTACTGGAGAG -3'

Posted On

2013-06-12