Mutagenetix > Incidental Mutation

Incidental Mutation 'R8263:Tbc1d7'

639813

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d7

Ensembl Gene

ENSMUSG00000021368

Gene Name

TBC1 domain family, member 7

Synonyms

2610009C09Rik

MMRRC Submission

067688-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R8263 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43305216-43324977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43323340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 17 (V17A)

Ref Sequence

ENSEMBL: ENSMUSP00000021797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021797] [ENSMUST00000179852]

AlphaFold

Q9D0K0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021797
AA Change: V17A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021797
Gene: ENSMUSG00000021368
AA Change: V17A

Domain	Start	End	E-Value	Type
SCOP:d1fkma1	24	90	5e-3	SMART
Pfam:RabGAP-TBC	133	251	2.6e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179852
AA Change: V17A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137280
Gene: ENSMUSG00000021368
AA Change: V17A

Domain	Start	End	E-Value	Type
SCOP:d1fkma1	24	90	5e-3	SMART
Pfam:RabGAP-TBC	133	251	5.5e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095N17Rik	T	A	1: 75,208,683 (GRCm39)	R12S	unknown	Het
Ankrd10	C	T	8: 11,665,707 (GRCm39)	V298I	probably benign	Het
Atg4d	T	A	9: 21,178,335 (GRCm39)	M151K	probably damaging	Het
Calhm5	C	A	10: 33,972,192 (GRCm39)	C81F	probably damaging	Het
Casp8ap2	T	A	4: 32,644,072 (GRCm39)	H1048Q	probably damaging	Het
Cd300ld2	A	G	11: 114,903,192 (GRCm39)	S218P	unknown	Het
Clec3a	T	C	8: 115,152,369 (GRCm39)	V125A	probably benign	Het
Cnot6	A	T	11: 49,573,002 (GRCm39)	Y241N	probably damaging	Het
Dnah1	A	T	14: 31,015,134 (GRCm39)	F1686Y	probably damaging	Het
Dnah12	A	G	14: 26,613,421 (GRCm39)	K1285E	noncoding transcript	Het
Dop1b	T	C	16: 93,559,083 (GRCm39)	S610P	possibly damaging	Het
Ehhadh	A	T	16: 21,592,295 (GRCm39)	L136H	probably damaging	Het
Epha7	A	G	4: 28,821,149 (GRCm39)	T105A	probably damaging	Het
Etl4	A	T	2: 20,748,965 (GRCm39)	E434D	probably benign	Het
Fastkd2	T	C	1: 63,770,968 (GRCm39)	V108A	probably benign	Het
Fat2	G	A	11: 55,174,962 (GRCm39)	T1917I	probably benign	Het
Fbxo45	A	G	16: 32,065,533 (GRCm39)	S33P	unknown	Het
Fig4	A	T	10: 41,143,711 (GRCm39)	Y249*	probably null	Het
Fryl	T	C	5: 73,238,348 (GRCm39)	Y1466C	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Glod4	T	C	11: 76,125,318 (GRCm39)	D147G	possibly damaging	Het
Gm12695	T	G	4: 96,651,046 (GRCm39)	M136L	probably benign	Het
Gm5422	A	G	10: 31,125,099 (GRCm39)	T313A	noncoding transcript	Het
Hydin	C	A	8: 111,178,705 (GRCm39)	A1100D	probably benign	Het
Ift172	G	A	5: 31,422,681 (GRCm39)	A923V	possibly damaging	Het
Irgc	G	A	7: 24,132,107 (GRCm39)	H237Y	probably damaging	Het
Itga11	T	C	9: 62,604,262 (GRCm39)	I50T	possibly damaging	Het
Itpr3	C	T	17: 27,334,887 (GRCm39)	Q2134*	probably null	Het
Kat8	A	T	7: 127,523,653 (GRCm39)	D292V	possibly damaging	Het
Kdm2a	A	G	19: 4,374,392 (GRCm39)	M913T	possibly damaging	Het
Larp4	T	C	15: 99,883,961 (GRCm39)	V66A	probably benign	Het
Loxhd1	A	G	18: 77,462,858 (GRCm39)	D899G	probably damaging	Het
Lrrc47	G	T	4: 154,100,486 (GRCm39)	R354L	probably damaging	Het
Lss	C	T	10: 76,367,739 (GRCm39)	R24C	probably damaging	Het
Mmp14	C	T	14: 54,673,244 (GRCm39)	R51C	probably damaging	Het
Mon1a	C	T	9: 107,775,993 (GRCm39)	T37I	probably benign	Het
Mtcl2	A	G	2: 156,869,510 (GRCm39)	W1042R	possibly damaging	Het
Nacc2	A	C	2: 25,952,240 (GRCm39)	V372G	probably damaging	Het
Ncapg	T	C	5: 45,849,134 (GRCm39)	V690A	probably benign	Het
Nhej1	A	G	1: 75,006,896 (GRCm39)	L152P	probably damaging	Het
Nol4l	A	T	2: 153,259,337 (GRCm39)	S522R	probably damaging	Het
Nr0b2	A	G	4: 133,281,241 (GRCm39)	Y169C	probably damaging	Het
Numa1	A	G	7: 101,648,491 (GRCm39)	M741V	probably benign	Het
Or10d1b	A	G	9: 39,613,453 (GRCm39)	M204T	possibly damaging	Het
Or8g28	A	G	9: 39,169,899 (GRCm39)	L26P	probably damaging	Het
Pebp1	C	A	5: 117,425,473 (GRCm39)		probably null	Het
Pik3ip1	A	T	11: 3,291,581 (GRCm39)	I217F	probably damaging	Het
Plekhg1	T	A	10: 3,907,651 (GRCm39)	I911N		Het
Pnpla8	T	C	12: 44,342,846 (GRCm39)	I534T	probably damaging	Het
Ppp2r2a	A	T	14: 67,261,205 (GRCm39)	F172I	probably damaging	Het
Rab7	C	T	6: 87,989,292 (GRCm39)	M59I	probably benign	Het
Rbm34	T	C	8: 127,692,139 (GRCm39)	N201S	probably benign	Het
Rfx1	G	T	8: 84,821,483 (GRCm39)	R764L	probably damaging	Het
Rnase12	T	A	14: 51,294,580 (GRCm39)	D33V	probably damaging	Het
Rnf121	A	G	7: 101,684,532 (GRCm39)	L127P	probably damaging	Het
Rtl1	C	A	12: 109,560,180 (GRCm39)	R553L	probably damaging	Het
Scn8a	T	C	15: 100,881,736 (GRCm39)	L601P	probably damaging	Het
Scyl2	G	T	10: 89,476,525 (GRCm39)	Q867K	possibly damaging	Het
Sgtb	T	C	13: 104,268,692 (GRCm39)	F213L	probably benign	Het
Slc35f4	A	G	14: 49,551,084 (GRCm39)	V260A	probably damaging	Het
Slfn14	A	G	11: 83,174,299 (GRCm39)	Y231H	possibly damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Stard13	G	A	5: 151,157,106 (GRCm39)	A25V	possibly damaging	Het
Stk38	C	T	17: 29,203,161 (GRCm39)	R135H	probably damaging	Het
Svil	A	G	18: 5,108,679 (GRCm39)	D1939G	probably damaging	Het
Tasor2	C	T	13: 3,625,286 (GRCm39)	V1555I	possibly damaging	Het
Tasor2	G	T	13: 3,640,016 (GRCm39)	P374T	probably benign	Het
Trpc4	T	C	3: 54,129,756 (GRCm39)	V174A	probably damaging	Het
Ttn	G	T	2: 76,619,028 (GRCm39)	T16117K	probably damaging	Het
Tubb3	T	A	8: 124,147,868 (GRCm39)	M267K	possibly damaging	Het
Upk1b	T	C	16: 38,604,585 (GRCm39)	T147A	probably damaging	Het
Vmn2r107	G	T	17: 20,580,614 (GRCm39)	C517F	probably damaging	Het
Vmn2r112	A	G	17: 22,824,140 (GRCm39)	D465G	probably damaging	Het
Vmn2r73	A	T	7: 85,507,619 (GRCm39)	H564Q	probably benign	Het
Vmn2r79	A	G	7: 86,686,726 (GRCm39)	I702M	possibly damaging	Het
Vmn2r84	A	G	10: 130,227,037 (GRCm39)	V267A	probably damaging	Het
Zfp445	T	C	9: 122,681,878 (GRCm39)	I688V	probably benign	Het
Zfp955a	C	T	17: 33,463,087 (GRCm39)	V15M	probably damaging	Het
Zfp960	T	A	17: 17,308,202 (GRCm39)	C305*	probably null	Het
Zfp964	A	G	8: 70,116,345 (GRCm39)	D315G	possibly damaging	Het
Zmynd10	T	A	9: 107,426,516 (GRCm39)	I183K	possibly damaging	Het

Other mutations in Tbc1d7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Tbc1d7	APN	13	43,312,797 (GRCm39)	missense	probably damaging	1.00
IGL01460:Tbc1d7	APN	13	43,318,835 (GRCm39)	missense	probably benign	0.00
IGL02653:Tbc1d7	APN	13	43,318,874 (GRCm39)	missense	probably benign
IGL03046:Tbc1d7	APN	13	43,308,162 (GRCm39)	splice site	probably null
R0165:Tbc1d7	UTSW	13	43,306,678 (GRCm39)	splice site	probably null
R0427:Tbc1d7	UTSW	13	43,306,563 (GRCm39)	missense	probably benign	0.01
R0863:Tbc1d7	UTSW	13	43,308,161 (GRCm39)	splice site	probably benign
R0930:Tbc1d7	UTSW	13	43,318,812 (GRCm39)	nonsense	probably null
R1181:Tbc1d7	UTSW	13	43,306,615 (GRCm39)	missense	probably damaging	1.00
R1792:Tbc1d7	UTSW	13	43,318,853 (GRCm39)	missense	probably benign
R2113:Tbc1d7	UTSW	13	43,306,562 (GRCm39)	missense	probably damaging	0.99
R4354:Tbc1d7	UTSW	13	43,323,344 (GRCm39)	missense	probably damaging	1.00
R4743:Tbc1d7	UTSW	13	43,323,325 (GRCm39)	missense	probably damaging	1.00
R5407:Tbc1d7	UTSW	13	43,308,178 (GRCm39)	missense	probably benign	0.01
R6049:Tbc1d7	UTSW	13	43,312,836 (GRCm39)	missense	probably damaging	0.99
R6320:Tbc1d7	UTSW	13	43,306,409 (GRCm39)	unclassified	probably benign
R7024:Tbc1d7	UTSW	13	43,308,211 (GRCm39)	missense	probably damaging	1.00
R7241:Tbc1d7	UTSW	13	43,306,493 (GRCm39)	missense	probably benign	0.17
R9013:Tbc1d7	UTSW	13	43,322,310 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCTTCTGCCTCTCAATGAATCTG -3'
(R):5'- AATGCTCCTTGCTTAGGGC -3'

Sequencing Primer
(F):5'- CTGCCTCTCAATGAATCTGAAAAATC -3'
(R):5'- GCTTAGGGCCAGGCAATTTATC -3'

Posted On

2020-07-28