Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Tbc1d8'

350924

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

041824-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39371492-39478755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39372708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1016 (I1016F)

Ref Sequence

ENSEMBL: ENSMUSP00000049967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054462] [ENSMUST00000086535] [ENSMUST00000178079] [ENSMUST00000179954] [ENSMUST00000192531] [ENSMUST00000193823] [ENSMUST00000194746] [ENSMUST00000195123]

AlphaFold

Q9Z1A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054462
AA Change: I1016F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: I1016F

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: ENSMUST00000178079

SMART Domains

Protein: ENSMUSP00000136354
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: ENSMUST00000179954

SMART Domains

Protein: ENSMUSP00000137631
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

noncoding transcript
Transcript: ENSMUST00000191855

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

SMART Domains

Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194746

SMART Domains

Protein: ENSMUSP00000141808
Gene: ENSMUSG00000073702

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:Ribosomal_L31e	18	101	3.1e-40	PFAM
low complexity region	102	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195123

SMART Domains

Protein: ENSMUSP00000142039
Gene: ENSMUSG00000073702

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:Ribosomal_L31e	18	83	7.9e-29	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Orc2	A	T	1: 58,500,309	L57*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tfrc	G	T	16: 32,618,657	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	probably damaging	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
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
R7918:Tbc1d8	UTSW	1	39402728	missense	probably damaging	1.00
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'- TGAGAAGGGATGCCAAAATATGTTC -3'
(R):5'- AGAACTGTTTCCCATGGCAC -3'

Sequencing Primer
(F):5'- TGCCAAAATATGTTCAAGGGACAC -3'
(R):5'- TGGCACAAAGATTAAGCAGCATAC -3'

Posted On

2015-10-08