Mutagenetix > Incidental Mutation

Incidental Mutation 'R7918:Tbc1d8'

648162

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d8

Ensembl Gene

ENSMUSG00000003134

Gene Name

TBC1 domain family, member 8

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7918 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39371492-39478755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39402728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 261 (F261C)

Ref Sequence

ENSEMBL: ENSMUSP00000049967 (fasta)

Gene Model

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

AlphaFold

Q9Z1A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054462
AA Change: F261C

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

SMART Domains

Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: F261C

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: F261C

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

SMART Domains

Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: F261C

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	G	A	5: 130,384,428	T30I	unknown	Het
Adam21	A	G	12: 81,560,604	V128A	possibly damaging	Het
Adam26a	T	C	8: 43,569,529	Y308C	probably damaging	Het
Adam26b	A	G	8: 43,521,101	V288A	probably benign	Het
Ankrd29	A	C	18: 12,295,922	L30R	probably damaging	Het
Bank1	A	G	3: 136,093,362	I406T	probably damaging	Het
Cacna1g	A	G	11: 94,444,030	I817T	probably benign	Het
Catsperd	T	C	17: 56,631,564	F31L	probably benign	Het
Cep164	A	G	9: 45,779,688		probably null	Het
Clca4b	T	C	3: 144,913,272	Y702C	probably damaging	Het
Clstn1	A	G	4: 149,644,051	I655V	probably damaging	Het
Dock1	A	G	7: 135,145,418	E1486G	probably damaging	Het
Epha8	A	G	4: 136,934,566	F573L	probably benign	Het
Exoc1	A	G	5: 76,543,993	N323S	probably benign	Het
Exoc6b	C	T	6: 85,069,350	R19Q	probably damaging	Het
Gcsam	T	C	16: 45,620,139	*182R	probably null	Het
Ighv9-2	T	C	12: 114,109,291	I21V	probably benign	Het
Ints2	G	A	11: 86,222,217	T825M	probably damaging	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Lad1	A	G	1: 135,829,716	T398A	probably benign	Het
Lrfn2	T	C	17: 49,071,184	V431A	probably damaging	Het
Mast2	T	C	4: 116,435,535	I79M	possibly damaging	Het
Nup107	A	G	10: 117,782,000	V171A	probably benign	Het
Olfr376	T	C	11: 73,375,097	F119S	probably damaging	Het
Olfr888	T	A	9: 38,108,807	Y35*	probably null	Het
Olfr970	C	A	9: 39,820,110	T157K	probably damaging	Het
Pde4dip	T	A	3: 97,715,223	K1557*	probably null	Het
Plat	C	T	8: 22,773,639	P185S	probably damaging	Het
Plcg1	T	G	2: 160,753,665	V511G	probably damaging	Het
Plxnb3	C	T	X: 73,767,645	A1258V	probably benign	Het
Rnf223	T	C	4: 156,132,783	V205A	probably benign	Het
Slc13a1	G	C	6: 24,118,066	T224R	probably benign	Het
Slc39a10	T	A	1: 46,835,752	H130L	possibly damaging	Het
Sucnr1	T	A	3: 60,086,369	I106N	probably damaging	Het
Syde2	T	C	3: 146,002,415		probably null	Het
Syne1	T	C	10: 5,359,078	I644V	possibly damaging	Het
Tmem132e	A	G	11: 82,445,290	Y1066C	probably damaging	Het
Trip12	A	C	1: 84,745,063	I1322S	probably damaging	Het
Tsnaxip1	A	G	8: 105,844,535	I676V	probably benign	Het
Vmn1r231	A	T	17: 20,889,974	Y226*	probably null	Het
Vmn2r63	G	C	7: 42,903,531	A767G	probably damaging	Het
Wdr5b	A	G	16: 36,041,822	T104A	probably damaging	Het
Zbed5	T	C	5: 129,901,663	V151A	possibly damaging	Het
Zc3h7b	T	C	15: 81,768,988	F31S	probably damaging	Het
Zfp874b	A	T	13: 67,474,160	C340S	possibly damaging	Het
Zmym4	T	A	4: 126,911,004		probably null	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
IGL01548:Tbc1d8	APN	1	39381304	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- GGAAGTTTGAGTGGCACCAC -3'
(R):5'- AACTTGTGATCCCCTGGGTC -3'

Sequencing Primer
(F):5'- GGACAAGTCCTCTAGAGATCCTG -3'
(R):5'- GTGATCCCCTGGGTCGATATC -3'

Posted On

2020-09-15