Mutagenetix > Incidental Mutation

Incidental Mutation 'R7024:Tbc1d7'

545856

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d7

Ensembl Gene

ENSMUSG00000021368

Gene Name

TBC1 domain family, member 7

Synonyms

2610009C09Rik

MMRRC Submission

045125-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

R7024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43305216-43324977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43308211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 85 (F85I)

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 damaging
Transcript: ENSMUST00000021797
AA Change: F207I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021797
Gene: ENSMUSG00000021368
AA Change: F207I

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 damaging
Transcript: ENSMUST00000179852
AA Change: F207I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137280
Gene: ENSMUSG00000021368
AA Change: F207I

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 damaging
Transcript: ENSMUST00000220787
AA Change: F207I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000221352

Predicted Effect

probably benign
Transcript: ENSMUST00000221795

Predicted Effect

probably damaging
Transcript: ENSMUST00000222160
AA Change: F207I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223000
AA Change: F85I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	G	16: 88,424,108 (GRCm39)	S128P	probably damaging	Het
Abcc1	G	C	16: 14,231,247 (GRCm39)		probably null	Het
Atg2a	G	A	19: 6,300,249 (GRCm39)	G686S	possibly damaging	Het
Atrnl1	A	T	19: 57,626,882 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,440,884 (GRCm39)		probably benign	Het
Camsap3	A	G	8: 3,658,242 (GRCm39)	E688G	probably damaging	Het
Cc2d2a	T	A	5: 43,891,271 (GRCm39)	S1402R	probably benign	Het
Ccnb1	A	G	13: 100,922,888 (GRCm39)		probably null	Het
Cdc42bpb	G	A	12: 111,292,519 (GRCm39)	H339Y	probably damaging	Het
Ciart	T	A	3: 95,786,392 (GRCm39)	T94S	probably benign	Het
Col6a5	T	A	9: 105,789,674 (GRCm39)	K1540*	probably null	Het
Csmd3	A	T	15: 47,574,387 (GRCm39)	V1969E	probably damaging	Het
Dgka	T	G	10: 128,556,356 (GRCm39)	N710T	probably damaging	Het
Dock6	A	G	9: 21,731,666 (GRCm39)	V1212A	probably benign	Het
Dync2i2	A	G	2: 29,928,278 (GRCm39)	V116A	possibly damaging	Het
En1	C	T	1: 120,531,051 (GRCm39)	P97L	unknown	Het
Esd	T	A	14: 74,982,102 (GRCm39)	F172L	probably damaging	Het
Gfer	C	A	17: 24,914,942 (GRCm39)	D34Y	probably damaging	Het
Gm2832	G	A	14: 41,001,696 (GRCm39)	M68I		Het
Hmgcr	A	G	13: 96,795,418 (GRCm39)	S384P	probably benign	Het
Hsp90aa1	T	C	12: 110,660,546 (GRCm39)	T299A	possibly damaging	Het
Igsf10	A	G	3: 59,239,122 (GRCm39)	M353T	probably benign	Het
Ino80b	T	C	6: 83,099,306 (GRCm39)	T211A	probably benign	Het
Lamb2	C	A	9: 108,366,687 (GRCm39)	T1607K	probably benign	Het
Lhfpl5	A	G	17: 28,801,957 (GRCm39)	E218G	probably benign	Het
Lpo	C	A	11: 87,707,269 (GRCm39)	C248F	probably damaging	Het
Lrrc3	C	T	10: 77,736,825 (GRCm39)	D204N	probably damaging	Het
Mavs	C	A	2: 131,085,051 (GRCm39)	L160I	probably benign	Het
Morn4	C	T	19: 42,066,483 (GRCm39)	D35N	possibly damaging	Het
Mroh8	G	A	2: 157,063,183 (GRCm39)	H813Y	probably benign	Het
Myf6	T	C	10: 107,330,390 (GRCm39)	E59G	probably damaging	Het
Nhsl3	T	A	4: 129,119,201 (GRCm39)	E173V	probably null	Het
Nlrp10	T	A	7: 108,524,405 (GRCm39)	E358D	possibly damaging	Het
Odad2	A	C	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Optn	T	C	2: 5,057,648 (GRCm39)		probably null	Het
Or12e8	A	G	2: 87,188,066 (GRCm39)	T93A	probably benign	Het
Or13a19	T	C	7: 139,902,759 (GRCm39)	I49T	possibly damaging	Het
Or1e1d-ps1	T	A	11: 73,819,332 (GRCm39)	L94*	probably null	Het
Or1o1	T	C	17: 37,717,095 (GRCm39)	F219L	probably benign	Het
Or5g9	T	A	2: 85,551,952 (GRCm39)	F68I	probably damaging	Het
Or7g28	T	C	9: 19,272,579 (GRCm39)	E24G	possibly damaging	Het
Plxna4	T	A	6: 32,169,204 (GRCm39)	H1331L	probably damaging	Het
Poli	A	T	18: 70,649,920 (GRCm39)	M357K	possibly damaging	Het
Psd4	T	G	2: 24,284,555 (GRCm39)	C140G	possibly damaging	Het
Rab3gap1	T	A	1: 127,818,835 (GRCm39)		probably null	Het
Rasa3	T	C	8: 13,681,826 (GRCm39)	N41S	probably benign	Het
Rps6kc1	A	G	1: 190,532,407 (GRCm39)	S532P	probably benign	Het
S100a3	T	A	3: 90,509,747 (GRCm39)		probably null	Het
Sfrp5	T	C	19: 42,190,204 (GRCm39)	K83E	possibly damaging	Het
Slco1a4	T	C	6: 141,780,434 (GRCm39)	I119V	probably benign	Het
Snx15	T	A	19: 6,170,626 (GRCm39)	Q271L	probably damaging	Het
Sorcs2	C	A	5: 36,178,605 (GRCm39)	S1128I	probably damaging	Het
Thoc7	A	G	14: 13,953,528 (GRCm38)	Y46H	probably damaging	Het
Top1mt	T	A	15: 75,539,297 (GRCm39)	Y366F	probably damaging	Het
Trpv2	C	A	11: 62,475,287 (GRCm39)	S233R	probably benign	Het
Vav1	C	A	17: 57,586,268 (GRCm39)	T24N	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy4	G	T	14: 32,686,583 (GRCm39)		probably null	Het
Wdr3	A	G	3: 100,062,313 (GRCm39)	S201P	probably benign	Het
Wfs1	C	T	5: 37,124,294 (GRCm39)	D866N	probably damaging	Het
Wnk1	A	T	6: 119,942,687 (GRCm39)		probably benign	Het
Xpot	G	T	10: 121,438,304 (GRCm39)	Q762K	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	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
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'- AGGGAAGGCAGCTTTGAATC -3'
(R):5'- AGGACTGACTTGATGCTTCTCAC -3'

Sequencing Primer
(F):5'- GAAGGCAGCTTTGAATCGCCTTC -3'
(R):5'- GACTTGATGCTTCTCACAGTTTCTAG -3'

Posted On

2019-05-13