Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02390:Tbc1d13'

294248

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d13

Ensembl Gene

ENSMUSG00000039678

Gene Name

TBC1 domain family, member 13

Synonyms

2600014A06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

IGL02390

Quality Score

Status

Chromosome

Chromosomal Location

30023758-30042025 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 30027399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044556] [ENSMUST00000131261] [ENSMUST00000136183]

AlphaFold

Q8R3D1

Predicted Effect

probably benign
Transcript: ENSMUST00000044556

SMART Domains

Protein: ENSMUSP00000048426
Gene: ENSMUSG00000039678

Domain	Start	End	E-Value	Type
TBC	32	370	4.18e-58	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129789

Predicted Effect

probably benign
Transcript: ENSMUST00000131261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134013

Predicted Effect

probably benign
Transcript: ENSMUST00000136183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150879

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,187,377 (GRCm39)	K894R	probably benign	Het
Ampd1	C	T	3: 102,986,357 (GRCm39)	A12V	probably benign	Het
Ano4	T	A	10: 88,860,843 (GRCm39)	D345V	possibly damaging	Het
Arl6	A	G	16: 59,441,580 (GRCm39)		probably null	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atrn	C	T	2: 130,862,897 (GRCm39)	P1326S	possibly damaging	Het
Btbd9	A	G	17: 30,743,788 (GRCm39)	V238A	probably benign	Het
Cdh16	T	C	8: 105,348,606 (GRCm39)	T141A	probably damaging	Het
Cetn4	T	C	3: 37,363,305 (GRCm39)	D102G	probably damaging	Het
Col5a3	T	A	9: 20,688,292 (GRCm39)	N1256I	unknown	Het
Cyfip2	A	G	11: 46,112,225 (GRCm39)	F993L	possibly damaging	Het
Dcaf6	T	A	1: 165,250,490 (GRCm39)	I125F	possibly damaging	Het
Dclk2	A	C	3: 86,731,990 (GRCm39)	S336A	probably damaging	Het
Dnah8	G	A	17: 31,049,819 (GRCm39)	V4327I	probably benign	Het
Ebna1bp2	T	C	4: 118,478,694 (GRCm39)	V59A	possibly damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
F2	A	T	2: 91,463,332 (GRCm39)	V184D	possibly damaging	Het
Fbxo38	C	T	18: 62,666,660 (GRCm39)	R171H	probably damaging	Het
Fhod3	A	C	18: 25,199,332 (GRCm39)	S668R	probably benign	Het
Fkbp10	T	A	11: 100,306,843 (GRCm39)	F78L	probably damaging	Het
Garre1	T	C	7: 33,947,643 (GRCm39)	D455G	probably damaging	Het
Hyi	C	T	4: 118,219,810 (GRCm39)	R254C	probably benign	Het
Igfl3	A	T	7: 17,915,659 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrrc8a	C	A	2: 30,146,713 (GRCm39)	P509Q	probably damaging	Het
Mapkap1	T	A	2: 34,322,101 (GRCm39)	N6K	probably damaging	Het
Mdh1b	T	A	1: 63,760,716 (GRCm39)	H115L	probably benign	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mrpl15	T	C	1: 4,855,837 (GRCm39)	S22G	probably benign	Het
Nf1	T	C	11: 79,456,761 (GRCm39)	Y616H	possibly damaging	Het
Nf1	T	A	11: 79,302,502 (GRCm39)		probably benign	Het
Olig1	C	A	16: 91,067,041 (GRCm39)	Q93K	probably damaging	Het
Or13d1	T	A	4: 52,971,263 (GRCm39)	I214N	probably damaging	Het
Or1o1	A	T	17: 37,716,986 (GRCm39)	L182F	probably benign	Het
Or4f59	A	T	2: 111,873,056 (GRCm39)	V107E	possibly damaging	Het
Otoa	C	A	7: 120,730,590 (GRCm39)	L597M	possibly damaging	Het
Parp16	C	T	9: 65,141,051 (GRCm39)	P207L	possibly damaging	Het
Pbrm1	T	A	14: 30,754,467 (GRCm39)	D162E	probably benign	Het
Pramel21	T	A	4: 143,341,895 (GRCm39)	M108K	probably benign	Het
Prdm10	A	G	9: 31,264,685 (GRCm39)	I658V	possibly damaging	Het
Psg21	A	T	7: 18,386,556 (GRCm39)	H143Q	probably benign	Het
Rfx4	C	T	10: 84,676,014 (GRCm39)	R28W	probably damaging	Het
Sart1	T	G	19: 5,430,489 (GRCm39)	M753L	possibly damaging	Het
Smcr8	T	A	11: 60,670,548 (GRCm39)	D565E	probably benign	Het
Smyd4	T	A	11: 75,278,332 (GRCm39)		probably null	Het
Sned1	T	C	1: 93,189,386 (GRCm39)	V274A	probably benign	Het
Tox	A	T	4: 6,697,534 (GRCm39)	I423N	possibly damaging	Het
Tsc2	A	T	17: 24,819,427 (GRCm39)	V1232D	probably damaging	Het
Uckl1	C	T	2: 181,216,212 (GRCm39)	V178I	possibly damaging	Het
Usp13	T	A	3: 32,985,865 (GRCm39)	Y175*	probably null	Het
Vwde	A	G	6: 13,190,684 (GRCm39)	V469A	probably damaging	Het

Other mutations in Tbc1d13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Tbc1d13	APN	2	30,030,523 (GRCm39)	missense	probably damaging	1.00
IGL03182:Tbc1d13	APN	2	30,037,379 (GRCm39)	missense	probably damaging	1.00
IGL03223:Tbc1d13	APN	2	30,038,648 (GRCm39)	missense	probably damaging	1.00
R0617:Tbc1d13	UTSW	2	30,025,576 (GRCm39)	splice site	probably benign
R4457:Tbc1d13	UTSW	2	30,025,450 (GRCm39)	utr 3 prime	probably benign
R5107:Tbc1d13	UTSW	2	30,036,733 (GRCm39)	missense	probably damaging	1.00
R5184:Tbc1d13	UTSW	2	30,032,323 (GRCm39)	missense	probably benign	0.38
R5381:Tbc1d13	UTSW	2	30,027,379 (GRCm39)	missense	probably benign	0.09
R5810:Tbc1d13	UTSW	2	30,032,380 (GRCm39)	missense	probably benign	0.02
R5853:Tbc1d13	UTSW	2	30,027,393 (GRCm39)	missense	probably damaging	1.00
R6803:Tbc1d13	UTSW	2	30,025,522 (GRCm39)	utr 3 prime	probably benign
R8069:Tbc1d13	UTSW	2	30,037,415 (GRCm39)	missense	probably damaging	1.00
R9656:Tbc1d13	UTSW	2	30,032,429 (GRCm39)	missense	possibly damaging	0.53
Z1088:Tbc1d13	UTSW	2	30,024,884 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16