Mutagenetix > Incidental Mutation

Incidental Mutation 'R7384:Tbc1d8'

572914

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

045466-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7384 (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 T at 39394098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 334 (D334E)

Ref Sequence

ENSEMBL: ENSMUSP00000049967 (fasta)

Gene Model

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

AlphaFold

Q9Z1A9

Predicted Effect

probably benign
Transcript: ENSMUST00000054462
AA Change: D334E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: D334E

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 benign
Transcript: ENSMUST00000193823
AA Change: D334E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: D334E

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,463,468 (GRCm38)		probably null	Het
Abca13	C	A	11: 9,333,257 (GRCm38)	S3226R	probably damaging	Het
Abhd14b	A	G	9: 106,450,141 (GRCm38)	I41V	probably benign	Het
Acot2	T	C	12: 83,992,667 (GRCm38)	S317P	probably benign	Het
Acp7	T	C	7: 28,615,088 (GRCm38)	E284G	possibly damaging	Het
Adamts5	A	G	16: 85,899,826 (GRCm38)	F148L	probably benign	Het
Adcy10	C	T	1: 165,576,608 (GRCm38)	P1611S	unknown	Het
Agr2	A	G	12: 35,995,924 (GRCm38)	T57A	probably damaging	Het
Ankar	T	G	1: 72,658,465 (GRCm38)	I1060L	probably benign	Het
Ano10	T	A	9: 122,176,343 (GRCm38)	D77V	unknown	Het
Apc2	G	A	10: 80,312,624 (GRCm38)	V1171I	probably damaging	Het
Apoa4	G	A	9: 46,241,474 (GRCm38)	R19Q	not run	Het
Arhgap33	A	G	7: 30,527,271 (GRCm38)	S504P	probably damaging	Het
Atg2a	T	C	19: 6,261,677 (GRCm38)	V1862A	probably damaging	Het
Atp7b	T	C	8: 22,022,315 (GRCm38)	S511G	probably benign	Het
Bcl10	A	G	3: 145,933,040 (GRCm38)	K146E	possibly damaging	Het
Bsg	A	T	10: 79,709,797 (GRCm38)	D181V	probably damaging	Het
Btg4	T	C	9: 51,119,113 (GRCm38)	V171A	probably benign	Het
Cdh8	A	C	8: 99,230,506 (GRCm38)	N188K	probably benign	Het
Cflar	C	A	1: 58,752,576 (GRCm38)	T346K		Het
Chrna5	T	C	9: 55,004,833 (GRCm38)	S306P	probably damaging	Het
Cldn20	G	A	17: 3,532,611 (GRCm38)	G20R	probably damaging	Het
Clns1a	G	A	7: 97,696,781 (GRCm38)	A18T	probably benign	Het
D130043K22Rik	A	G	13: 24,882,605 (GRCm38)	Y795C	probably damaging	Het
Dync1li2	A	C	8: 104,442,543 (GRCm38)	S38A	probably benign	Het
Dysf	A	G	6: 84,114,105 (GRCm38)	E1043G	probably benign	Het
Eral1	A	G	11: 78,074,101 (GRCm38)	I422T	possibly damaging	Het
Exoc3	G	A	13: 74,172,156 (GRCm38)	P729S	probably benign	Het
Eya1	T	A	1: 14,229,512 (GRCm38)	Y339F	probably damaging	Het
Faah	G	T	4: 116,005,167 (GRCm38)	N206K	probably damaging	Het
Fem1a	A	G	17: 56,257,537 (GRCm38)	E210G	probably benign	Het
Gcc2	T	A	10: 58,269,964 (GRCm38)	S341T	probably damaging	Het
Gfpt2	A	T	11: 49,810,990 (GRCm38)	I123F	possibly damaging	Het
Gm21188	T	A	13: 120,035,261 (GRCm38)	Q24L	possibly damaging	Het
Gm3047	T	A	14: 4,558,271 (GRCm38)	N164K	probably damaging	Het
Gm3327	A	G	14: 44,124,877 (GRCm38)	K78E		Het
Gm438	T	A	4: 144,780,621 (GRCm38)	I65F	possibly damaging	Het
Herpud1	A	G	8: 94,389,377 (GRCm38)	I57V	probably damaging	Het
Homer1	A	T	13: 93,393,039 (GRCm38)	R285S	possibly damaging	Het
Hps6	T	A	19: 46,004,017 (GRCm38)	V131E	possibly damaging	Het
Il1r1	T	A	1: 40,282,261 (GRCm38)	I11N	possibly damaging	Het
Jakmip1	T	A	5: 37,173,207 (GRCm38)	D410E	possibly damaging	Het
Kif3a	T	A	11: 53,578,854 (GRCm38)	F97L	probably damaging	Het
Klf11	C	T	12: 24,653,743 (GRCm38)	T76I	probably damaging	Het
Ldlr	A	C	9: 21,739,794 (GRCm38)	T503P	probably benign	Het
Mapk3	G	C	7: 126,764,291 (GRCm38)	R279P		Het
Mb21d2	A	T	16: 28,828,912 (GRCm38)	D103E	probably benign	Het
Mfsd7a	A	T	5: 108,446,060 (GRCm38)	I61K	probably damaging	Het
Msh4	T	A	3: 153,888,748 (GRCm38)	M333L	probably benign	Het
Mycbp2	A	G	14: 103,276,393 (GRCm38)	I836T	probably damaging	Het
Myh1	A	T	11: 67,224,375 (GRCm38)	E1912V	possibly damaging	Het
Ncapd2	A	G	6: 125,173,401 (GRCm38)	V887A	probably benign	Het
Nlrp4a	G	A	7: 26,449,538 (GRCm38)	R190Q	not run	Het
Nop53	T	C	7: 15,939,495 (GRCm38)	T344A	probably damaging	Het
Olfr235	T	C	19: 12,269,076 (GRCm38)	V282A	possibly damaging	Het
Olfr457	A	T	6: 42,471,323 (GRCm38)	L285Q	possibly damaging	Het
Olfr871	A	G	9: 20,212,745 (GRCm38)	Y132C	probably damaging	Het
Pcyox1l	A	C	18: 61,698,390 (GRCm38)	V266G	probably damaging	Het
Pde5a	A	G	3: 122,825,000 (GRCm38)	Y654C	probably damaging	Het
Polq	T	C	16: 37,029,418 (GRCm38)	S345P	probably damaging	Het
Prdm1	A	T	10: 44,458,507 (GRCm38)	C8S	probably benign	Het
Psg17	T	A	7: 18,818,660 (GRCm38)	Q230L	possibly damaging	Het
Rab11fip5	A	T	6: 85,348,330 (GRCm38)	S332T	possibly damaging	Het
Rac2	T	A	15: 78,561,931 (GRCm38)	K186*	probably null	Het
S100pbp	T	C	4: 129,181,909 (GRCm38)	N208D	probably benign	Het
Scaf11	A	T	15: 96,420,387 (GRCm38)	V432D	possibly damaging	Het
Slc34a1	G	T	13: 55,402,934 (GRCm38)	C225F	probably benign	Het
Slc35e2	A	T	4: 155,610,632 (GRCm38)	M152L	probably benign	Het
Slc9a4	T	A	1: 40,612,251 (GRCm38)	I563K	probably benign	Het
Sppl3	T	G	5: 115,061,641 (GRCm38)		probably null	Het
Stam	T	C	2: 14,134,430 (GRCm38)	F301L	probably benign	Het
Supt16	G	A	14: 52,181,162 (GRCm38)	R213W	probably damaging	Het
Tmem87a	C	T	2: 120,371,523 (GRCm38)		probably null	Het
Tnk1	T	C	11: 69,851,621 (GRCm38)	Y661C	probably damaging	Het
Tnpo2	G	A	8: 85,050,119 (GRCm38)	R485H	probably damaging	Het
Tnxb	A	G	17: 34,718,518 (GRCm38)	D2947G	probably damaging	Het
Traf4	A	G	11: 78,160,791 (GRCm38)		probably null	Het
Trappc10	A	T	10: 78,209,384 (GRCm38)	M490K	possibly damaging	Het
Trav12-1	A	G	14: 53,538,536 (GRCm38)	T49A	probably benign	Het
Ttc37	A	C	13: 76,150,735 (GRCm38)	S1187R	possibly damaging	Het
Twistnb	G	T	12: 33,433,632 (GRCm38)	G128W	probably damaging	Het
Ubap1l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	9: 65,371,750 (GRCm38)		probably benign	Het
Unc79	G	T	12: 103,171,578 (GRCm38)	V2485L	probably benign	Het
Ush2a	T	C	1: 188,400,163 (GRCm38)	S861P	probably damaging	Het
Vcam1	A	G	3: 116,117,228 (GRCm38)	V507A	possibly damaging	Het
Vmn1r218	A	G	13: 23,136,725 (GRCm38)	M81V	probably benign	Het
Zfp652	G	T	11: 95,753,004 (GRCm38)	V343L	probably damaging	Het

Other mutations in Tbc1d8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Tbc1d8	APN	1	39,394,129 (GRCm38)	missense	probably damaging	0.96
IGL01501:Tbc1d8	APN	1	39,389,335 (GRCm38)	missense	probably damaging	1.00
IGL01548:Tbc1d8	APN	1	39,381,304 (GRCm38)	missense	probably damaging	0.96
IGL01884:Tbc1d8	APN	1	39,376,445 (GRCm38)	missense	probably damaging	1.00
IGL01919:Tbc1d8	APN	1	39,392,253 (GRCm38)	missense	probably damaging	1.00
IGL02123:Tbc1d8	APN	1	39,380,236 (GRCm38)	missense	probably damaging	0.98
IGL02123:Tbc1d8	APN	1	39,376,907 (GRCm38)	missense	possibly damaging	0.54
IGL02135:Tbc1d8	APN	1	39,402,810 (GRCm38)	missense	probably damaging	1.00
IGL02317:Tbc1d8	APN	1	39,376,904 (GRCm38)	missense	probably benign	0.00
IGL02325:Tbc1d8	APN	1	39,394,240 (GRCm38)	missense	probably damaging	0.99
IGL02607:Tbc1d8	APN	1	39,379,511 (GRCm38)	missense	probably benign	0.05
R0533:Tbc1d8	UTSW	1	39,372,774 (GRCm38)	missense	possibly damaging	0.82
R0604:Tbc1d8	UTSW	1	39,405,326 (GRCm38)	missense	probably damaging	1.00
R0612:Tbc1d8	UTSW	1	39,372,515 (GRCm38)	missense	possibly damaging	0.92
R0639:Tbc1d8	UTSW	1	39,391,209 (GRCm38)	missense	probably benign	0.00
R0976:Tbc1d8	UTSW	1	39,406,801 (GRCm38)	missense	probably damaging	1.00
R1051:Tbc1d8	UTSW	1	39,381,453 (GRCm38)	nonsense	probably null
R1605:Tbc1d8	UTSW	1	39,391,125 (GRCm38)	missense	probably benign	0.38
R1622:Tbc1d8	UTSW	1	39,380,236 (GRCm38)	missense	probably benign	0.00
R1710:Tbc1d8	UTSW	1	39,406,837 (GRCm38)	missense	possibly damaging	0.89
R2419:Tbc1d8	UTSW	1	39,376,902 (GRCm38)	missense	probably damaging	1.00
R2437:Tbc1d8	UTSW	1	39,405,287 (GRCm38)	splice site	probably null
R2862:Tbc1d8	UTSW	1	39,402,696 (GRCm38)	nonsense	probably null
R2870:Tbc1d8	UTSW	1	39,405,317 (GRCm38)	missense	probably damaging	1.00
R2870:Tbc1d8	UTSW	1	39,405,317 (GRCm38)	missense	probably damaging	1.00
R2872:Tbc1d8	UTSW	1	39,405,317 (GRCm38)	missense	probably damaging	1.00
R2872:Tbc1d8	UTSW	1	39,405,317 (GRCm38)	missense	probably damaging	1.00
R2873:Tbc1d8	UTSW	1	39,405,317 (GRCm38)	missense	probably damaging	1.00
R2874:Tbc1d8	UTSW	1	39,405,317 (GRCm38)	missense	probably damaging	1.00
R3759:Tbc1d8	UTSW	1	39,376,465 (GRCm38)	missense	probably damaging	1.00
R4127:Tbc1d8	UTSW	1	39,372,431 (GRCm38)	missense	probably benign	0.05
R4154:Tbc1d8	UTSW	1	39,386,135 (GRCm38)	missense	probably damaging	0.99
R4613:Tbc1d8	UTSW	1	39,372,708 (GRCm38)	missense	probably damaging	0.98
R4737:Tbc1d8	UTSW	1	39,402,878 (GRCm38)	missense	possibly damaging	0.63
R4738:Tbc1d8	UTSW	1	39,402,878 (GRCm38)	missense	possibly damaging	0.63
R4739:Tbc1d8	UTSW	1	39,402,878 (GRCm38)	missense	possibly damaging	0.63
R4740:Tbc1d8	UTSW	1	39,402,878 (GRCm38)	missense	possibly damaging	0.63
R5189:Tbc1d8	UTSW	1	39,385,132 (GRCm38)	missense	probably benign	0.00
R5271:Tbc1d8	UTSW	1	39,373,767 (GRCm38)	missense	probably damaging	0.97
R5308:Tbc1d8	UTSW	1	39,389,409 (GRCm38)	missense	probably damaging	1.00
R5393:Tbc1d8	UTSW	1	39,426,088 (GRCm38)	missense	probably damaging	0.99
R5529:Tbc1d8	UTSW	1	39,372,755 (GRCm38)	missense	probably benign	0.42
R5897:Tbc1d8	UTSW	1	39,392,109 (GRCm38)	missense	possibly damaging	0.95
R6160:Tbc1d8	UTSW	1	39,372,403 (GRCm38)	missense	probably damaging	0.98
R6408:Tbc1d8	UTSW	1	39,402,899 (GRCm38)	missense	probably damaging	0.99
R6409:Tbc1d8	UTSW	1	39,372,588 (GRCm38)	missense	probably benign	0.00
R6554:Tbc1d8	UTSW	1	39,406,822 (GRCm38)	missense	probably damaging	1.00
R6841:Tbc1d8	UTSW	1	39,389,374 (GRCm38)	missense	possibly damaging	0.68
R7282:Tbc1d8	UTSW	1	39,372,533 (GRCm38)	missense	probably benign	0.00
R7294:Tbc1d8	UTSW	1	39,406,762 (GRCm38)	missense	probably damaging	1.00
R7718:Tbc1d8	UTSW	1	39,376,980 (GRCm38)	missense	probably benign	0.00
R7881:Tbc1d8	UTSW	1	39,386,023 (GRCm38)	missense	probably damaging	0.98
R7918:Tbc1d8	UTSW	1	39,402,728 (GRCm38)	missense	probably damaging	1.00
R7972:Tbc1d8	UTSW	1	39,392,169 (GRCm38)	missense	probably damaging	1.00
R8269:Tbc1d8	UTSW	1	39,426,088 (GRCm38)	missense	probably benign	0.00
R8352:Tbc1d8	UTSW	1	39,405,357 (GRCm38)	missense	probably damaging	1.00
R8425:Tbc1d8	UTSW	1	39,381,409 (GRCm38)	missense	probably damaging	1.00
R8452:Tbc1d8	UTSW	1	39,405,357 (GRCm38)	missense	probably damaging	1.00
R9159:Tbc1d8	UTSW	1	39,405,393 (GRCm38)	missense
R9712:Tbc1d8	UTSW	1	39,385,232 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTCGATCAGATCTAAGCC -3'
(R):5'- GTGAGCTTGTATGTTCATTCCC -3'

Sequencing Primer
(F):5'- TCGATCAGATCTAAGCCCAAAC -3'
(R):5'- ATTGCTCCCCAGGGACCTG -3'

Posted On

2019-09-13