Mutagenetix > Incidental Mutation

Incidental Mutation 'R6049:Tbc1d7'

483465

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d7

Ensembl Gene

ENSMUSG00000021368

Gene Name

TBC1 domain family, member 7

Synonyms

2610009C09Rik

MMRRC Submission

044217-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

R6049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43305216-43324977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43312836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 19 (M19R)

Ref Sequence

ENSEMBL: ENSMUSP00000152737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021797] [ENSMUST00000179852] [ENSMUST00000220787] [ENSMUST00000221352] [ENSMUST00000221795] [ENSMUST00000222160] [ENSMUST00000223000]

AlphaFold

Q9D0K0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021797
AA Change: M141R

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021797
Gene: ENSMUSG00000021368
AA Change: M141R

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: M141R

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137280
Gene: ENSMUSG00000021368
AA Change: M141R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220579

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220787
AA Change: M141R

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221095

Predicted Effect

probably benign
Transcript: ENSMUST00000221352

Predicted Effect

probably benign
Transcript: ENSMUST00000221795

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222160
AA Change: M141R

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223000
AA Change: M19R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223076

Meta Mutation Damage Score

0.5876

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,088,520 (GRCm39)	H229Y	probably benign	Het
Aadacl2fm2	A	C	3: 59,659,570 (GRCm39)	D341A	probably damaging	Het
Abcd2	A	G	15: 91,062,439 (GRCm39)	F500L	probably benign	Het
Adgb	A	G	10: 10,253,770 (GRCm39)	L1190P	probably damaging	Het
Adgrv1	A	G	13: 81,545,473 (GRCm39)	V5604A	probably benign	Het
Ank2	T	A	3: 126,736,669 (GRCm39)	T3072S	possibly damaging	Het
Arhgap39	A	G	15: 76,611,601 (GRCm39)		probably null	Het
C6	T	C	15: 4,764,654 (GRCm39)	C117R	probably damaging	Het
Cacna1a	A	G	8: 85,365,475 (GRCm39)	E2206G	probably damaging	Het
Cd2bp2	A	T	7: 126,793,007 (GRCm39)	F338L	probably damaging	Het
Cemip2	A	T	19: 21,803,490 (GRCm39)	Q841L	probably benign	Het
Cngb1	T	C	8: 95,997,470 (GRCm39)	D575G	probably damaging	Het
Cplane2	T	A	4: 140,945,473 (GRCm39)	V108D	probably benign	Het
Crat	A	G	2: 30,293,553 (GRCm39)	F63S	probably damaging	Het
Crybg3	T	C	16: 59,364,417 (GRCm39)	T2402A	probably benign	Het
Ctsq	A	G	13: 61,186,572 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,361,564 (GRCm39)	R248G	probably damaging	Het
D7Ertd443e	T	C	7: 133,899,961 (GRCm39)	H420R	probably benign	Het
Deup1	A	G	9: 15,472,552 (GRCm39)	F587L	possibly damaging	Het
Dnah6	T	C	6: 73,063,149 (GRCm39)	K2651R	probably benign	Het
Dnah7b	A	G	1: 46,124,762 (GRCm39)	I144V	probably benign	Het
Dnajc1	T	C	2: 18,236,511 (GRCm39)		probably null	Het
Fscb	T	C	12: 64,521,094 (GRCm39)	N124S	possibly damaging	Het
Gabbr2	A	G	4: 46,787,641 (GRCm39)	Y341H	probably damaging	Het
Greb1	T	A	12: 16,731,395 (GRCm39)	I1648F	probably damaging	Het
Hace1	A	T	10: 45,562,758 (GRCm39)	N758Y	probably damaging	Het
Irs2	A	C	8: 11,056,805 (GRCm39)	D542E	probably benign	Het
Kat6a	T	A	8: 23,429,053 (GRCm39)	H1469Q	possibly damaging	Het
Kif15	G	A	9: 122,840,687 (GRCm39)	R36K	probably damaging	Het
Krt42	C	T	11: 100,157,886 (GRCm39)	V193M	probably damaging	Het
Limch1	A	T	5: 67,188,203 (GRCm39)	E878V	probably benign	Het
Med18	G	T	4: 132,187,024 (GRCm39)	D158E	probably benign	Het
Med6	T	C	12: 81,638,097 (GRCm39)	N38S	probably damaging	Het
Mup13	T	C	4: 61,183,596 (GRCm39)	T76A	probably benign	Het
Nlrp4b	T	A	7: 10,448,640 (GRCm39)	L281*	probably null	Het
Or5h23	A	T	16: 58,906,509 (GRCm39)	C112*	probably null	Het
Or7g28	C	A	9: 19,272,640 (GRCm39)	G4*	probably null	Het
Or9r3	A	T	10: 129,948,481 (GRCm39)	H59Q	probably benign	Het
Pde4d	A	T	13: 109,169,119 (GRCm39)	R54*	probably null	Het
Pdpk1	A	T	17: 24,317,109 (GRCm39)	Y251*	probably null	Het
Pdzk1	A	G	3: 96,758,979 (GRCm39)	E128G	probably benign	Het
Phf12	A	G	11: 77,918,996 (GRCm39)		probably null	Het
Pnliprp2	A	G	19: 58,748,884 (GRCm39)	E63G	possibly damaging	Het
Prkcd	T	C	14: 30,329,254 (GRCm39)	E62G	possibly damaging	Het
Prl7b1	G	T	13: 27,790,161 (GRCm39)	D77E	probably benign	Het
Rbck1	G	T	2: 152,165,094 (GRCm39)	C85*	probably null	Het
Rfx3	A	T	19: 27,779,795 (GRCm39)	M481K	probably damaging	Het
Rmdn3	A	G	2: 118,983,906 (GRCm39)	F159L	probably damaging	Het
Rpusd3	A	C	6: 113,394,802 (GRCm39)		probably null	Het
Ska1	T	C	18: 74,335,671 (GRCm39)	T100A	probably benign	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc27a6	T	A	18: 58,731,732 (GRCm39)	Y361N	probably damaging	Het
Smc1b	A	G	15: 85,005,896 (GRCm39)	L336S	probably damaging	Het
St7	A	G	6: 17,694,347 (GRCm39)	D46G	possibly damaging	Het
Supt5	A	G	7: 28,014,622 (GRCm39)	I1059T	probably benign	Het
Syne1	A	T	10: 5,297,926 (GRCm39)	S1124T	possibly damaging	Het
Szt2	A	G	4: 118,260,185 (GRCm39)	S54P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tbpl2	T	C	2: 23,985,004 (GRCm39)	N47D	possibly damaging	Het
Tgfbr3	C	T	5: 107,266,351 (GRCm39)	A790T	probably damaging	Het
Tnr	T	C	1: 159,740,324 (GRCm39)	V1166A	probably damaging	Het
Ttn	G	A	2: 76,676,654 (GRCm39)		probably benign	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
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
R8263:Tbc1d7	UTSW	13	43,323,340 (GRCm39)	missense	possibly damaging	0.86
R9013:Tbc1d7	UTSW	13	43,322,310 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTAGCAGGTCCACTCATC -3'
(R):5'- GCTCCTCTGTACTGACACAC -3'

Sequencing Primer
(F):5'- GGTCCACTCATCACAGCAG -3'
(R):5'- CTGTACTGACACACTCTGCC -3'

Posted On

2017-07-14