Mutagenetix > Incidental Mutation

Incidental Mutation 'R7718:Tbc1d8'

595007

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

045775-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7718 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39410573-39517836 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 39416061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 871 (T871P)

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: T871P

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

SMART Domains

Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: T871P

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: 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 benign
Transcript: ENSMUST00000193823
AA Change: T871P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: T871P

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

Meta Mutation Damage Score

0.0661

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	T	5: 138,646,122 (GRCm39)	H669L	possibly damaging	Het
Abcb1a	A	T	5: 8,765,788 (GRCm39)	N700I	probably damaging	Het
Abcc6	T	C	7: 45,626,816 (GRCm39)	K1414E	possibly damaging	Het
Adcy5	T	C	16: 35,100,785 (GRCm39)	V779A	probably benign	Het
Agap2	A	G	10: 126,915,734 (GRCm39)	S82G	possibly damaging	Het
Aldh1l1	A	G	6: 90,575,305 (GRCm39)	N864S	probably damaging	Het
Ang2	A	T	14: 51,433,217 (GRCm39)	V55E	probably benign	Het
Ank2	A	G	3: 126,758,662 (GRCm39)	M179T	possibly damaging	Het
Atrnl1	T	A	19: 57,728,615 (GRCm39)	C1090*	probably null	Het
Atxn1l	A	G	8: 110,459,866 (GRCm39)	L132P	probably damaging	Het
Bptf	A	G	11: 106,972,282 (GRCm39)	V862A	possibly damaging	Het
Capn11	C	A	17: 45,954,707 (GRCm39)	K143N	probably damaging	Het
Card6	A	G	15: 5,129,269 (GRCm39)	V709A	possibly damaging	Het
Cavin4	C	T	4: 48,671,984 (GRCm39)	A143V	probably benign	Het
Cntn5	A	G	9: 9,984,133 (GRCm39)	I160T	probably benign	Het
Cyp2c40	T	A	19: 39,755,782 (GRCm39)	N511Y	probably benign	Het
Dsc2	A	T	18: 20,174,835 (GRCm39)	I480N	probably damaging	Het
Elf2	G	T	3: 51,173,385 (GRCm39)		probably benign	Het
Enoph1	T	C	5: 100,210,019 (GRCm39)	V133A	possibly damaging	Het
Ezh2	A	T	6: 47,531,125 (GRCm39)	D186E	probably benign	Het
Fcgbpl1	T	C	7: 27,846,626 (GRCm39)	F1106S	probably damaging	Het
Gfra1	T	C	19: 58,441,889 (GRCm39)	D14G	possibly damaging	Het
Gmip	C	T	8: 70,270,383 (GRCm39)	R698W	probably damaging	Het
Grk4	A	G	5: 34,852,160 (GRCm39)	N135D	probably benign	Het
Hspb6	A	G	7: 30,253,772 (GRCm39)	D95G	probably benign	Het
Htatip2	T	G	7: 49,420,632 (GRCm39)	H159Q	possibly damaging	Het
Igfn1	T	C	1: 135,896,774 (GRCm39)	E1264G	probably benign	Het
Insyn2b	T	C	11: 34,352,539 (GRCm39)	S194P	probably benign	Het
Katnb1	T	A	8: 95,821,836 (GRCm39)	V223E	possibly damaging	Het
Klra6	AGG	AG	6: 129,990,315 (GRCm39)		probably null	Het
Masp2	C	T	4: 148,687,204 (GRCm39)	R29C	probably damaging	Het
Mcm3	A	T	1: 20,887,498 (GRCm39)	C123*	probably null	Het
Mdn1	T	C	4: 32,718,420 (GRCm39)	V2225A	probably damaging	Het
Me1	A	G	9: 86,561,953 (GRCm39)	L44S	probably damaging	Het
Mlxip	A	G	5: 123,583,577 (GRCm39)	N380S	probably benign	Het
Muc21	T	C	17: 35,933,728 (GRCm39)	T153A	unknown	Het
Myh14	C	T	7: 44,310,464 (GRCm39)	V140I	probably damaging	Het
Myocd	A	T	11: 65,109,452 (GRCm39)	D106E	probably damaging	Het
Oat	T	C	7: 132,159,988 (GRCm39)	I411V	probably benign	Het
Or2d2	A	T	7: 106,727,925 (GRCm39)	V225D	probably damaging	Het
Or5p59	T	C	7: 107,702,855 (GRCm39)	V113A	probably benign	Het
Or8k38	A	G	2: 86,488,373 (GRCm39)	V143A	probably benign	Het
Orc2	A	T	1: 58,519,476 (GRCm39)	H246Q	possibly damaging	Het
Pank4	A	G	4: 155,059,100 (GRCm39)	E411G	probably damaging	Het
Patl2	A	T	2: 121,957,255 (GRCm39)		probably null	Het
Pcdhb15	A	G	18: 37,608,216 (GRCm39)	N483D	probably damaging	Het
Pcdhb20	A	G	18: 37,638,704 (GRCm39)	D410G	probably damaging	Het
Pdcl2	A	G	5: 76,465,846 (GRCm39)	C125R	probably damaging	Het
Peli3	C	G	19: 4,984,584 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,805,474 (GRCm39)	D3313G	probably benign	Het
Plec	A	C	15: 76,061,639 (GRCm39)	M2766R	probably damaging	Het
Ppargc1a	C	T	5: 51,655,504 (GRCm39)	V99M	probably damaging	Het
Prr35	T	A	17: 26,165,998 (GRCm39)	R430*	probably null	Het
Psg19	G	A	7: 18,526,368 (GRCm39)	A374V	probably benign	Het
Psmd7	A	T	8: 108,313,261 (GRCm39)	F54L	possibly damaging	Het
Ptbp2	C	T	3: 119,514,637 (GRCm39)	G397R	probably null	Het
Ranbp3	A	G	17: 57,003,718 (GRCm39)	D39G	probably damaging	Het
Rcor3	T	C	1: 191,786,021 (GRCm39)	T406A	probably benign	Het
Rhbdl2	T	A	4: 123,718,712 (GRCm39)	I222K	probably damaging	Het
Ripk2	T	C	4: 16,151,968 (GRCm39)	N197S	possibly damaging	Het
Rpia	A	T	6: 70,743,602 (GRCm39)	M283K	probably damaging	Het
Rps6kc1	T	C	1: 190,604,022 (GRCm39)	D200G	probably benign	Het
Sipa1l1	A	T	12: 82,389,271 (GRCm39)	K499M	probably damaging	Het
Slc5a4b	A	G	10: 75,906,407 (GRCm39)	L404P	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spmip4	G	A	6: 50,566,078 (GRCm39)		probably null	Het
St7	A	C	6: 17,854,998 (GRCm39)	T312P	probably damaging	Het
Strbp	T	C	2: 37,515,294 (GRCm39)	E244G	probably damaging	Het
Tcp1	T	A	17: 13,141,049 (GRCm39)	I286N	probably damaging	Het
Tead3	C	A	17: 28,552,491 (GRCm39)	V327F	probably damaging	Het
Tmem132c	A	T	5: 127,640,504 (GRCm39)	T892S	probably benign	Het
Trmt2a	T	C	16: 18,068,487 (GRCm39)	S65P	probably benign	Het
Ubp1	A	G	9: 113,802,597 (GRCm39)	N479S	possibly damaging	Het
Ubtfl1	A	T	9: 18,320,527 (GRCm39)	L18F	possibly damaging	Het
Uevld	T	G	7: 46,587,804 (GRCm39)	M299L	probably benign	Het
Unc13b	T	A	4: 43,173,854 (GRCm39)	Y1561N	unknown	Het
Ylpm1	A	G	12: 85,075,896 (GRCm39)	K874E	probably damaging	Het
Zbtb37	G	A	1: 160,859,802 (GRCm39)	R168W	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
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
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'- ATTGTATGGATCTGCCCGCC -3'
(R):5'- GTGCACACATTCGGATGAC -3'

Sequencing Primer
(F):5'- GTATGGATCTGCCCGCCCTATC -3'
(R):5'- TGCATTACAGAATGTGGACTGAAGC -3'

Posted On

2019-11-12