Mutagenetix > Incidental Mutation

Incidental Mutation 'R0604:Tbc1d8'

55576

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

MMRRC Submission

038793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39410573-39517836 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39444407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 184 (H184L)

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: H184L

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

SMART Domains

Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: H184L

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

silent
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: H184L

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

SMART Domains

Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: H184L

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: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,451 (GRCm39)	E302G	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adrb2	G	A	18: 62,311,586 (GRCm39)	T413I	possibly damaging	Het
Aqr	T	C	2: 113,961,085 (GRCm39)	K725R	probably benign	Het
Braf	A	G	6: 39,600,631 (GRCm39)	I662T	probably damaging	Het
Ccdc178	A	G	18: 22,200,500 (GRCm39)	S435P	probably benign	Het
Chd9	A	G	8: 91,763,170 (GRCm39)	M2332V	possibly damaging	Het
Clgn	T	C	8: 84,150,823 (GRCm39)	V496A	probably benign	Het
Dnah17	A	C	11: 118,012,297 (GRCm39)	S193R	probably benign	Het
Dntt	A	G	19: 41,041,588 (GRCm39)	E424G	probably benign	Het
Fam149a	A	G	8: 45,798,045 (GRCm39)	L492P	probably damaging	Het
Fetub	T	C	16: 22,754,410 (GRCm39)	Y126H	possibly damaging	Het
Fgfr3	A	T	5: 33,890,126 (GRCm39)	Y96F	probably damaging	Het
Gm4952	A	G	19: 12,602,036 (GRCm39)	E148G	probably benign	Het
Gucy2g	T	A	19: 55,191,519 (GRCm39)	L977F	probably benign	Het
Il1r1	T	C	1: 40,321,406 (GRCm39)	V6A	probably benign	Het
Itsn2	C	A	12: 4,708,189 (GRCm39)	Q832K	probably benign	Het
Lats1	T	A	10: 7,588,425 (GRCm39)	F1014Y	probably damaging	Het
Mcc	G	A	18: 44,606,823 (GRCm39)	A536V	probably damaging	Het
Mtrf1	T	C	14: 79,653,327 (GRCm39)	V334A	possibly damaging	Het
Or1j21	T	A	2: 36,684,119 (GRCm39)	Y290*	probably null	Het
Or2t46	T	A	11: 58,472,174 (GRCm39)	M168K	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or4p18	T	C	2: 88,232,727 (GRCm39)	T184A	probably benign	Het
Pard6g	A	G	18: 80,160,423 (GRCm39)	S179G	probably damaging	Het
Pierce1	C	A	2: 28,356,103 (GRCm39)	R60L	possibly damaging	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Psg27	A	T	7: 18,290,997 (GRCm39)	V402D	probably damaging	Het
Rttn	A	G	18: 88,995,882 (GRCm39)	I222V	probably damaging	Het
Sp9	T	A	2: 73,103,982 (GRCm39)	S179T	probably benign	Het
Vmn1r69	A	G	7: 10,314,581 (GRCm39)	V50A	probably benign	Het
Vmn2r58	A	G	7: 41,510,000 (GRCm39)	F526L	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCTCCTTGGAGAAGCAGCCTATG -3'
(R):5'- GGTAAGTGTCTTTCTGTCCTCAGGCTC -3'

Sequencing Primer
(F):5'- GTGTCTGTACAAATCACGGGAATATG -3'
(R):5'- CTCTGATCGCAGAGGAGAC -3'

Posted On

2013-07-11