Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01501:Tbc1d8'

88918

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 #

IGL01501

Quality Score

Status

Chromosome

Chromosomal Location

39410573-39517836 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39428416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 510 (R510C)

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: R510C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: R510C

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: R510C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: R510C

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

noncoding transcript
Transcript: ENSMUST00000195854

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	A	8: 25,404,369 (GRCm39)	N212I	probably damaging	Het
Adgre4	T	G	17: 56,109,002 (GRCm39)		probably benign	Het
Amer3	G	A	1: 34,627,398 (GRCm39)	V546M	probably benign	Het
Arfgef3	A	G	10: 18,476,308 (GRCm39)	S1504P	possibly damaging	Het
D630003M21Rik	G	A	2: 158,042,987 (GRCm39)	A851V	probably benign	Het
Ddhd2	A	T	8: 26,225,857 (GRCm39)	M500K	probably damaging	Het
Fig4	A	G	10: 41,146,370 (GRCm39)	S191P	probably benign	Het
Gabrg3	T	C	7: 56,374,214 (GRCm39)	T451A	probably damaging	Het
Gzme	T	A	14: 56,356,858 (GRCm39)	M35L	probably damaging	Het
Il6st	A	G	13: 112,616,593 (GRCm39)	I47V	probably benign	Het
Klk1b11	A	T	7: 43,649,258 (GRCm39)		probably benign	Het
Lztr1	G	A	16: 17,340,255 (GRCm39)		probably null	Het
Or4f14b	A	G	2: 111,774,863 (GRCm39)	*313Q	probably null	Het
Or5i1	T	A	2: 87,613,480 (GRCm39)	W199R	possibly damaging	Het
Ptprz1	A	T	6: 22,973,081 (GRCm39)	N283I	probably damaging	Het
Slc25a33	T	C	4: 149,840,615 (GRCm39)		probably benign	Het
Snap91	T	C	9: 86,720,178 (GRCm39)	M120V	probably damaging	Het
Thoc1	T	C	18: 9,986,321 (GRCm39)	L351P	possibly damaging	Het
Tmco5b	A	G	2: 113,121,726 (GRCm39)	K180R	probably null	Het
Zfp553	G	T	7: 126,835,387 (GRCm39)	S314I	probably damaging	Het
Zgrf1	G	A	3: 127,396,211 (GRCm39)		probably null	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
IGL01548:Tbc1d8	APN	1	39,420,385 (GRCm39)	missense	probably damaging	0.96
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

2013-12-03