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, BUB2-like protein 1, HBLP1, AD3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

39410573-39517836 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39420385 bp (GRCm39)

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
Acot3	C	T	12: 84,103,863 (GRCm39)	T224I	probably benign	Het
Adamts18	C	T	8: 114,490,931 (GRCm39)	G512E	probably damaging	Het
Atp4b	A	G	8: 13,439,679 (GRCm39)	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,113,346 (GRCm39)	I230V	probably benign	Het
Cenpj	C	A	14: 56,769,776 (GRCm39)	V1138L	probably benign	Het
Cep78	A	G	19: 15,958,564 (GRCm39)		probably benign	Het
Clec2j	T	A	6: 128,632,941 (GRCm39)		noncoding transcript	Het
Col5a3	T	C	9: 20,714,296 (GRCm39)		probably benign	Het
Cpne6	A	T	14: 55,750,183 (GRCm39)	T105S	probably damaging	Het
Csmd1	A	T	8: 16,338,660 (GRCm39)	Y482*	probably null	Het
Ctrl	C	A	8: 106,659,890 (GRCm39)		probably benign	Het
Dhcr24	T	A	4: 106,431,068 (GRCm39)	C252*	probably null	Het
Dnaaf9	T	C	2: 130,656,179 (GRCm39)	N110D	probably damaging	Het
Dnah17	G	A	11: 117,989,438 (GRCm39)	P1261S	probably benign	Het
Dnai2	T	C	11: 114,643,768 (GRCm39)	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922 (GRCm39)	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,433,134 (GRCm39)	S191A	probably damaging	Het
Fat4	G	A	3: 39,063,406 (GRCm39)	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,941,907 (GRCm39)	S267P	probably damaging	Het
Frrs1	T	C	3: 116,678,834 (GRCm39)	C219R	probably damaging	Het
Gabra6	T	A	11: 42,207,850 (GRCm39)	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,634,242 (GRCm39)	C242*	probably null	Het
Gm2840	G	A	5: 96,322,136 (GRCm39)		noncoding transcript	Het
Gmcl1p1	G	A	X: 3,078,226 (GRCm39)	G423S	probably benign	Het
Golim4	C	T	3: 75,815,432 (GRCm39)		probably null	Het
Gucy1b1	G	T	3: 81,942,169 (GRCm39)	T530K	probably damaging	Het
Hacl1	A	T	14: 31,362,553 (GRCm39)	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,502,723 (GRCm39)	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,850,095 (GRCm39)	I26T	probably damaging	Het
Hspa1l	G	A	17: 35,197,367 (GRCm39)	A469T	probably damaging	Het
Htra3	T	A	5: 35,821,420 (GRCm39)		probably null	Het
Lrrc28	C	A	7: 67,278,042 (GRCm39)		probably null	Het
Mfhas1	T	C	8: 36,057,613 (GRCm39)	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252 (GRCm39)	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,774,496 (GRCm39)	Y188H	probably damaging	Het
Myom1	A	G	17: 71,408,215 (GRCm39)		probably benign	Het
Naca	A	T	10: 127,876,773 (GRCm39)		probably benign	Het
Nckap1l	T	A	15: 103,371,147 (GRCm39)	V213D	probably benign	Het
Ndufa6	C	T	15: 82,238,282 (GRCm39)	V50M	possibly damaging	Het
Or4c35	T	A	2: 89,808,883 (GRCm39)	F254I	possibly damaging	Het
Or5b111	A	G	19: 13,291,350 (GRCm39)	F100L	possibly damaging	Het
Or5g23	A	G	2: 85,439,105 (GRCm39)	W50R	probably benign	Het
Or8b56	A	G	9: 38,739,646 (GRCm39)	T220A	probably benign	Het
Or8k53	T	A	2: 86,178,077 (GRCm39)	Y11F	possibly damaging	Het
Osbpl1a	T	C	18: 12,896,632 (GRCm39)	Y311C	probably damaging	Het
Parp11	A	C	6: 127,468,562 (GRCm39)	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,808,407 (GRCm39)		probably null	Het
Plec	T	C	15: 76,073,458 (GRCm39)	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,534,261 (GRCm39)	Y375N	probably benign	Het
Prss35	C	A	9: 86,637,327 (GRCm39)	S32R	probably benign	Het
Prss57	C	T	10: 79,621,581 (GRCm39)		probably benign	Het
Ptprc	A	C	1: 138,027,219 (GRCm39)		probably null	Het
Rims1	A	G	1: 22,577,683 (GRCm39)	C188R	probably damaging	Het
Ripk4	G	T	16: 97,552,696 (GRCm39)	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,363,728 (GRCm39)		probably benign	Het
Rps6ka4	A	G	19: 6,809,691 (GRCm39)	V378A	probably benign	Het
Rtf1	A	G	2: 119,542,589 (GRCm39)	K298E	probably benign	Het
Sdk1	T	C	5: 142,071,520 (GRCm39)	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,948,652 (GRCm39)	K543E	probably benign	Het
Slco1a8	A	G	6: 141,938,238 (GRCm39)	I227T	possibly damaging	Het
Sorcs3	A	T	19: 48,782,607 (GRCm39)	I1041F	possibly damaging	Het
Spata31e4	A	G	13: 50,854,414 (GRCm39)	T91A	probably benign	Het
Spata31f3	T	C	4: 42,868,564 (GRCm39)	E353G	probably benign	Het
Taok3	T	C	5: 117,410,262 (GRCm39)	M818T	probably benign	Het
Tas2r119	T	A	15: 32,178,123 (GRCm39)	F230I	probably damaging	Het
Tfg	A	G	16: 56,521,465 (GRCm39)	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,217,943 (GRCm39)	I45V	probably damaging	Het
Tle1	A	G	4: 72,088,955 (GRCm39)	L96P	probably damaging	Het
Tmem260	A	C	14: 48,717,782 (GRCm39)	S276R	possibly damaging	Het
Utp20	A	G	10: 88,600,643 (GRCm39)	S24P	probably damaging	Het
Vcam1	T	C	3: 115,909,600 (GRCm39)	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,192,538 (GRCm39)	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,240,893 (GRCm39)	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,282,151 (GRCm39)	I822V	probably benign	Het
Wdr6	C	T	9: 108,452,096 (GRCm39)	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,673,643 (GRCm39)	K132N	possibly damaging	Het

Other mutations in Tbc1d8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Tbc1d8	APN	1	39,433,210 (GRCm39)	missense	probably damaging	0.96
IGL01501:Tbc1d8	APN	1	39,428,416 (GRCm39)	missense	probably damaging	1.00
IGL01884:Tbc1d8	APN	1	39,415,526 (GRCm39)	missense	probably damaging	1.00
IGL01919:Tbc1d8	APN	1	39,431,334 (GRCm39)	missense	probably damaging	1.00
IGL02123:Tbc1d8	APN	1	39,419,317 (GRCm39)	missense	probably damaging	0.98
IGL02123:Tbc1d8	APN	1	39,415,988 (GRCm39)	missense	possibly damaging	0.54
IGL02135:Tbc1d8	APN	1	39,441,891 (GRCm39)	missense	probably damaging	1.00
IGL02317:Tbc1d8	APN	1	39,415,985 (GRCm39)	missense	probably benign	0.00
IGL02325:Tbc1d8	APN	1	39,433,321 (GRCm39)	missense	probably damaging	0.99
IGL02607:Tbc1d8	APN	1	39,418,592 (GRCm39)	missense	probably benign	0.05
R0533:Tbc1d8	UTSW	1	39,411,855 (GRCm39)	missense	possibly damaging	0.82
R0604:Tbc1d8	UTSW	1	39,444,407 (GRCm39)	missense	probably damaging	1.00
R0612:Tbc1d8	UTSW	1	39,411,596 (GRCm39)	missense	possibly damaging	0.92
R0639:Tbc1d8	UTSW	1	39,430,290 (GRCm39)	missense	probably benign	0.00
R0976:Tbc1d8	UTSW	1	39,445,882 (GRCm39)	missense	probably damaging	1.00
R1051:Tbc1d8	UTSW	1	39,420,534 (GRCm39)	nonsense	probably null
R1605:Tbc1d8	UTSW	1	39,430,206 (GRCm39)	missense	probably benign	0.38
R1622:Tbc1d8	UTSW	1	39,419,317 (GRCm39)	missense	probably benign	0.00
R1710:Tbc1d8	UTSW	1	39,445,918 (GRCm39)	missense	possibly damaging	0.89
R2419:Tbc1d8	UTSW	1	39,415,983 (GRCm39)	missense	probably damaging	1.00
R2437:Tbc1d8	UTSW	1	39,444,368 (GRCm39)	splice site	probably null
R2862:Tbc1d8	UTSW	1	39,441,777 (GRCm39)	nonsense	probably null
R2870:Tbc1d8	UTSW	1	39,444,398 (GRCm39)	missense	probably damaging	1.00
R2870:Tbc1d8	UTSW	1	39,444,398 (GRCm39)	missense	probably damaging	1.00
R2872:Tbc1d8	UTSW	1	39,444,398 (GRCm39)	missense	probably damaging	1.00
R2872:Tbc1d8	UTSW	1	39,444,398 (GRCm39)	missense	probably damaging	1.00
R2873:Tbc1d8	UTSW	1	39,444,398 (GRCm39)	missense	probably damaging	1.00
R2874:Tbc1d8	UTSW	1	39,444,398 (GRCm39)	missense	probably damaging	1.00
R3759:Tbc1d8	UTSW	1	39,415,546 (GRCm39)	missense	probably damaging	1.00
R4127:Tbc1d8	UTSW	1	39,411,512 (GRCm39)	missense	probably benign	0.05
R4154:Tbc1d8	UTSW	1	39,425,216 (GRCm39)	missense	probably damaging	0.99
R4613:Tbc1d8	UTSW	1	39,411,789 (GRCm39)	missense	probably damaging	0.98
R4737:Tbc1d8	UTSW	1	39,441,959 (GRCm39)	missense	possibly damaging	0.63
R4738:Tbc1d8	UTSW	1	39,441,959 (GRCm39)	missense	possibly damaging	0.63
R4739:Tbc1d8	UTSW	1	39,441,959 (GRCm39)	missense	possibly damaging	0.63
R4740:Tbc1d8	UTSW	1	39,441,959 (GRCm39)	missense	possibly damaging	0.63
R5189:Tbc1d8	UTSW	1	39,424,213 (GRCm39)	missense	probably benign	0.00
R5271:Tbc1d8	UTSW	1	39,412,848 (GRCm39)	missense	probably damaging	0.97
R5308:Tbc1d8	UTSW	1	39,428,490 (GRCm39)	missense	probably damaging	1.00
R5393:Tbc1d8	UTSW	1	39,465,169 (GRCm39)	missense	probably damaging	0.99
R5529:Tbc1d8	UTSW	1	39,411,836 (GRCm39)	missense	probably benign	0.42
R5897:Tbc1d8	UTSW	1	39,431,190 (GRCm39)	missense	possibly damaging	0.95
R6160:Tbc1d8	UTSW	1	39,411,484 (GRCm39)	missense	probably damaging	0.98
R6408:Tbc1d8	UTSW	1	39,441,980 (GRCm39)	missense	probably damaging	0.99
R6409:Tbc1d8	UTSW	1	39,411,669 (GRCm39)	missense	probably benign	0.00
R6554:Tbc1d8	UTSW	1	39,445,903 (GRCm39)	missense	probably damaging	1.00
R6841:Tbc1d8	UTSW	1	39,428,455 (GRCm39)	missense	possibly damaging	0.68
R7282:Tbc1d8	UTSW	1	39,411,614 (GRCm39)	missense	probably benign	0.00
R7294:Tbc1d8	UTSW	1	39,445,843 (GRCm39)	missense	probably damaging	1.00
R7384:Tbc1d8	UTSW	1	39,433,179 (GRCm39)	missense	probably benign	0.00
R7718:Tbc1d8	UTSW	1	39,416,061 (GRCm39)	missense	probably benign	0.00
R7881:Tbc1d8	UTSW	1	39,425,104 (GRCm39)	missense	probably damaging	0.98
R7918:Tbc1d8	UTSW	1	39,441,809 (GRCm39)	missense	probably damaging	1.00
R7972:Tbc1d8	UTSW	1	39,431,250 (GRCm39)	missense	probably damaging	1.00
R8269:Tbc1d8	UTSW	1	39,465,169 (GRCm39)	missense	probably benign	0.00
R8352:Tbc1d8	UTSW	1	39,444,438 (GRCm39)	missense	probably damaging	1.00
R8425:Tbc1d8	UTSW	1	39,420,490 (GRCm39)	missense	probably damaging	1.00
R8452:Tbc1d8	UTSW	1	39,444,438 (GRCm39)	missense	probably damaging	1.00
R9159:Tbc1d8	UTSW	1	39,444,474 (GRCm39)	missense
R9712:Tbc1d8	UTSW	1	39,424,313 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09