Mutagenetix > Incidental Mutation

Incidental Mutation 'R3759:Tbc1d8'

270479

Institutional Source

Beutler Lab

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 #

R3759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39410573-39517836 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39415546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 913 (N913S)

Ref Sequence

ENSEMBL: ENSMUSP00000141750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054462] [ENSMUST00000086535] [ENSMUST00000192531] [ENSMUST00000193823]

AlphaFold

Q9Z1A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054462
AA Change: N913S

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

SMART Domains

Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: N913S

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: 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 damaging
Transcript: ENSMUST00000193823
AA Change: N913S

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

SMART Domains

Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: N913S

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Barx1	G	C	13: 48,818,649 (GRCm39)	R124P	probably damaging	Het
Capn13	T	A	17: 73,629,072 (GRCm39)	R578S	probably benign	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
Erc2	A	G	14: 27,747,120 (GRCm39)	Q684R	possibly damaging	Het
Grm4	G	A	17: 27,654,273 (GRCm39)	T559I	probably benign	Het
Heatr5b	G	T	17: 79,131,969 (GRCm39)	A378D	possibly damaging	Het
Ppfia1	A	G	7: 144,069,739 (GRCm39)	V398A	probably benign	Het
Ppip5k2	C	T	1: 97,683,610 (GRCm39)		probably null	Het
Pramel23	C	A	4: 143,423,721 (GRCm39)	C356F	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAAGATGCATTGGGAGG -3'
(R):5'- TCACCCTTAATGTCCTTCAGGG -3'

Sequencing Primer
(F):5'- CATTGGGAGGAAAGGATGACTCC -3'
(R):5'- CCTTCAGGGATGGGAGGTATTTAAG -3'

Posted On

2015-03-18