Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Tbc1d7'

24121

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d7

Ensembl Gene

ENSMUSG00000021368

Gene Name

TBC1 domain family, member 7

Synonyms

2610009C09Rik

MMRRC Submission

038441-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R0165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43305216-43324977 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 43306678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152737 (fasta)

Gene Model

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

AlphaFold

Q9D0K0

Predicted Effect

probably null
Transcript: ENSMUST00000021797

SMART Domains

Protein: ENSMUSP00000021797
Gene: ENSMUSG00000021368

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

Predicted Effect

probably null
Transcript: ENSMUST00000179852

SMART Domains

Protein: ENSMUSP00000137280
Gene: ENSMUSG00000021368

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

probably null
Transcript: ENSMUST00000220787

Predicted Effect

probably benign
Transcript: ENSMUST00000221352

Predicted Effect

probably benign
Transcript: ENSMUST00000221795

Predicted Effect

probably null
Transcript: ENSMUST00000222160

Predicted Effect

probably null
Transcript: ENSMUST00000223000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223076

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,213,924 (GRCm39)	I717T	possibly damaging	Het
6430571L13Rik	A	G	9: 107,223,383 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,950,126 (GRCm39)		probably benign	Het
Abca6	A	G	11: 110,110,430 (GRCm39)	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,558,499 (GRCm39)		probably benign	Het
Agap3	A	G	5: 24,684,743 (GRCm39)	T544A	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Akr1c20	T	C	13: 4,573,295 (GRCm39)	T7A	probably benign	Het
Ankrd26	A	G	6: 118,517,445 (GRCm39)	S459P	probably benign	Het
Armh4	A	G	14: 50,011,243 (GRCm39)	S155P	probably benign	Het
Ascc3	T	A	10: 50,718,223 (GRCm39)		probably null	Het
Brd1	T	C	15: 88,613,980 (GRCm39)	N305S	probably damaging	Het
Catip	T	A	1: 74,407,628 (GRCm39)	L320Q	possibly damaging	Het
Cplane1	G	A	15: 8,245,866 (GRCm39)	V1413M	probably damaging	Het
Cttnbp2	G	A	6: 18,435,409 (GRCm39)	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,257,481 (GRCm39)	N228T	probably benign	Het
Dapk1	T	C	13: 60,909,407 (GRCm39)	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Ddhd1	G	A	14: 45,833,049 (GRCm39)	T849M	probably damaging	Het
Dnah6	A	G	6: 72,998,306 (GRCm39)	S3987P	probably benign	Het
Dst	C	A	1: 34,193,727 (GRCm39)		probably benign	Het
Epha2	T	C	4: 141,049,203 (GRCm39)		probably null	Het
Ern2	T	C	7: 121,779,002 (GRCm39)	T281A	probably benign	Het
Extl1	A	G	4: 134,085,014 (GRCm39)	F652S	probably damaging	Het
Gckr	A	G	5: 31,484,292 (GRCm39)	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,293,419 (GRCm39)		probably null	Het
Gm7535	T	C	17: 18,131,437 (GRCm39)		probably benign	Het
Gmps	T	A	3: 63,901,375 (GRCm39)	I398N	probably damaging	Het
Igf2r	A	G	17: 12,917,414 (GRCm39)	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967 (GRCm38)	N283K	probably benign	Het
Ist1	A	G	8: 110,401,998 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,657,867 (GRCm39)	I1934F	probably damaging	Het
Lars1	A	T	18: 42,335,762 (GRCm39)	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,553,514 (GRCm39)	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,111,739 (GRCm39)	T537K	probably damaging	Het
Ltn1	G	A	16: 87,202,407 (GRCm39)		probably benign	Het
Meiob	A	G	17: 25,054,135 (GRCm39)	T401A	probably benign	Het
Mettl21e	G	A	1: 44,250,283 (GRCm39)	T41M	probably damaging	Het
Miga1	C	T	3: 151,996,480 (GRCm39)	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,198,907 (GRCm39)		probably null	Het
Or5p62	T	C	7: 107,771,882 (GRCm39)	D23G	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parp6	T	C	9: 59,540,208 (GRCm39)	Y274H	probably damaging	Het
Prom2	A	T	2: 127,381,434 (GRCm39)		probably benign	Het
Prune2	T	A	19: 17,099,974 (GRCm39)	M1826K	probably benign	Het
Qki	T	A	17: 10,457,892 (GRCm39)	D159V	probably damaging	Het
Rab12	A	T	17: 66,807,312 (GRCm39)	I139N	probably damaging	Het
Rab25	T	A	3: 88,455,362 (GRCm39)	E7D	probably benign	Het
Rala	A	T	13: 18,063,174 (GRCm39)	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,230,407 (GRCm39)		probably benign	Het
Rbl2	T	A	8: 91,800,804 (GRCm39)	Y89N	probably damaging	Het
Rho	A	T	6: 115,909,188 (GRCm39)	I75F	probably damaging	Het
Slc38a4	C	A	15: 96,906,830 (GRCm39)	A303S	probably benign	Het
Slc6a15	A	G	10: 103,245,670 (GRCm39)	D551G	probably null	Het
Smyd3	T	C	1: 178,871,437 (GRCm39)	N314S	probably benign	Het
Speer4f1	T	A	5: 17,684,512 (GRCm39)	L180*	probably null	Het
Stat6	T	C	10: 127,493,096 (GRCm39)	V576A	probably damaging	Het
Strn	T	C	17: 78,984,803 (GRCm39)	D127G	possibly damaging	Het
Syne1	T	C	10: 4,983,096 (GRCm39)	R8610G	probably benign	Het
Tcf3	C	T	10: 80,248,831 (GRCm39)	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,103,286 (GRCm39)	A859D	probably benign	Het
Tmem106c	T	A	15: 97,866,020 (GRCm39)		probably benign	Het
Tmprss11c	A	T	5: 86,379,786 (GRCm39)		probably benign	Het
Tnfsf18	A	G	1: 161,322,300 (GRCm39)	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,742,871 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,639,433 (GRCm39)	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,789,864 (GRCm39)	R133L	possibly damaging	Het
Ttn	A	G	2: 76,551,686 (GRCm39)	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,683,460 (GRCm39)	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vwce	T	C	19: 10,637,337 (GRCm39)		probably benign	Het
Wdhd1	A	G	14: 47,504,525 (GRCm39)	S350P	probably benign	Het
Zbtb21	A	G	16: 97,752,604 (GRCm39)	S560P	probably 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
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
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'- ACACAGTAAGAAAGCCCGGTCTGC -3'
(R):5'- AGGCATTTGGAGCATCATAGCACAG -3'

Sequencing Primer
(F):5'- CTGCACTGTTCAATGCCATG -3'
(R):5'- GCACAGTAATAACTTTAAGCGAGC -3'

Posted On

2013-04-16