Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Tbc1d8'

93214

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d8

Ensembl Gene

ENSMUSG00000003134

Gene Name

TBC1 domain family, member 8

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

39371492-39478755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39381304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 716 (D716G)

Ref Sequence

ENSEMBL: ENSMUSP00000141750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054462] [ENSMUST00000192531] [ENSMUST00000193823]

AlphaFold

Q9Z1A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054462
AA Change: D716G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: D716G

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: 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 damaging
Transcript: ENSMUST00000193823
AA Change: D716G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: D716G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,814,259	N110D	probably damaging	Het
Acot3	C	T	12: 84,057,089	T224I	probably benign	Het
Adamts18	C	T	8: 113,764,299	G512E	probably damaging	Het
Atp4b	A	G	8: 13,389,679	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,163,346	I230V	probably benign	Het
Cenpj	C	A	14: 56,532,319	V1138L	probably benign	Het
Cep78	A	G	19: 15,981,200		probably benign	Het
Clec2j	T	A	6: 128,655,978		noncoding transcript	Het
Col5a3	T	C	9: 20,803,000		probably benign	Het
Cpne6	A	T	14: 55,512,726	T105S	probably damaging	Het
Csmd1	A	T	8: 16,288,646	Y482*	probably null	Het
Ctrl	C	A	8: 105,933,258		probably benign	Het
Dhcr24	T	A	4: 106,573,871	C252*	probably null	Het
Dnah17	G	A	11: 118,098,612	P1261S	probably benign	Het
Dnaic2	T	C	11: 114,752,942	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,831,405	S191A	probably damaging	Het
Fam205c	T	C	4: 42,868,564	E353G	probably benign	Het
Fat4	T	C	3: 38,887,758	S267P	probably damaging	Het
Fat4	G	A	3: 39,009,257	C4454Y	probably damaging	Het
Frrs1	T	C	3: 116,885,185	C219R	probably damaging	Het
Gabra6	T	A	11: 42,317,023	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,798,408	C242*	probably null	Het
Gm2840	G	A	5: 96,174,277		noncoding transcript	Het
Gm6614	A	G	6: 141,992,512	I227T	possibly damaging	Het
Gm8765	A	G	13: 50,700,378	T91A	probably benign	Het
Gmcl1p1	G	A	X: 3,078,226	G423S	probably benign	Het
Golim4	C	T	3: 75,908,125		probably null	Het
Gucy1b1	G	T	3: 82,034,862	T530K	probably damaging	Het
Hacl1	A	T	14: 31,640,596	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,364,660	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,942,779	I26T	probably damaging	Het
Hspa1l	G	A	17: 34,978,391	A469T	probably damaging	Het
Htra3	T	A	5: 35,664,076		probably null	Het
Lrrc28	C	A	7: 67,628,294		probably null	Het
Mfhas1	T	C	8: 35,590,459	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,863,200	Y188H	probably damaging	Het
Myom1	A	G	17: 71,101,220		probably benign	Het
Naca	A	T	10: 128,040,904		probably benign	Het
Nckap1l	T	A	15: 103,462,720	V213D	probably benign	Het
Ndufa6	C	T	15: 82,354,081	V50M	possibly damaging	Het
Olfr1000	A	G	2: 85,608,761	W50R	probably benign	Het
Olfr1055	T	A	2: 86,347,733	Y11F	possibly damaging	Het
Olfr1260	T	A	2: 89,978,539	F254I	possibly damaging	Het
Olfr1465	A	G	19: 13,313,986	F100L	possibly damaging	Het
Olfr923	A	G	9: 38,828,350	T220A	probably benign	Het
Osbpl1a	T	C	18: 12,763,575	Y311C	probably damaging	Het
Parp11	A	C	6: 127,491,599	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,932,656		probably null	Het
Plec	T	C	15: 76,189,258	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,567,827	Y375N	probably benign	Het
Prss35	C	A	9: 86,755,274	S32R	probably benign	Het
Prss57	C	T	10: 79,785,747		probably benign	Het
Ptprc	A	C	1: 138,099,481		probably null	Het
Rims1	A	G	1: 22,538,602	C188R	probably damaging	Het
Ripk4	G	T	16: 97,751,496	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,126,271		probably benign	Het
Rps6ka4	A	G	19: 6,832,323	V378A	probably benign	Het
Rtf1	A	G	2: 119,712,108	K298E	probably benign	Het
Sdk1	T	C	5: 142,085,765	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,909,492	K543E	probably benign	Het
Sorcs3	A	T	19: 48,794,168	I1041F	possibly damaging	Het
Taok3	T	C	5: 117,272,197	M818T	probably benign	Het
Tas2r119	T	A	15: 32,177,977	F230I	probably damaging	Het
Tfg	A	G	16: 56,701,102	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,213,132	I45V	probably damaging	Het
Tle1	A	G	4: 72,170,718	L96P	probably damaging	Het
Tmem260	A	C	14: 48,480,325	S276R	possibly damaging	Het
Utp20	A	G	10: 88,764,781	S24P	probably damaging	Het
Vcam1	T	C	3: 116,115,951	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,215,553	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,093,027	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,446,282	I822V	probably benign	Het
Wdr6	C	T	9: 108,574,897	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,454,662	K132N	possibly damaging	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
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
R0533:Tbc1d8	UTSW	1	39372774	missense	possibly damaging	0.82
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

Posted On

2013-12-09