Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03182:Tbc1d13'

412308

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 #

IGL03182

Quality Score

Status

Chromosome

Chromosomal Location

30023758-30042025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30037379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 254 (A254T)

Ref Sequence

ENSEMBL: ENSMUSP00000048426 (fasta)

Gene Model

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

AlphaFold

Q8R3D1

Predicted Effect

probably damaging
Transcript: ENSMUST00000044556
AA Change: A254T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048426
Gene: ENSMUSG00000039678
AA Change: A254T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132324

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	T	6: 34,780,435 (GRCm39)	K469N	probably damaging	Het
Aldh2	A	G	5: 121,718,787 (GRCm39)		probably benign	Het
Ankfy1	T	C	11: 72,619,580 (GRCm39)		probably benign	Het
Ankhd1	C	T	18: 36,711,827 (GRCm39)	T209I	probably benign	Het
Aox3	G	A	1: 58,205,046 (GRCm39)	V754I	probably benign	Het
Arfgef3	C	T	10: 18,476,292 (GRCm39)	R1509H	probably damaging	Het
Ccdc157	A	G	11: 4,101,832 (GRCm39)	S30P	probably damaging	Het
Cept1	T	A	3: 106,411,866 (GRCm39)	E369D	probably damaging	Het
Clcnka	T	C	4: 141,121,798 (GRCm39)	Y236C	probably damaging	Het
Ddx42	A	T	11: 106,138,353 (GRCm39)	L717F	probably benign	Het
Dnah11	A	T	12: 117,994,026 (GRCm39)	I2340N	probably damaging	Het
Dsel	T	C	1: 111,787,868 (GRCm39)	E889G	probably damaging	Het
Fasn	T	C	11: 120,703,552 (GRCm39)	Y1560C	probably damaging	Het
Fermt2	A	T	14: 45,699,225 (GRCm39)	M623K	possibly damaging	Het
Gm21970	T	A	16: 91,190,726 (GRCm39)	S110T	possibly damaging	Het
Gm826	T	A	2: 160,169,035 (GRCm39)	R91S	unknown	Het
Lrrn3	A	G	12: 41,504,020 (GRCm39)	L99S	probably damaging	Het
Megf8	T	A	7: 25,046,773 (GRCm39)	M1552K	possibly damaging	Het
Mgll	G	T	6: 88,800,173 (GRCm39)	V191F	probably damaging	Het
Nkapd1	T	C	9: 50,523,698 (GRCm39)	N50S	possibly damaging	Het
Nol8	C	A	13: 49,817,557 (GRCm39)	H778N	probably damaging	Het
Or1e26	T	A	11: 73,480,268 (GRCm39)	T99S	probably benign	Het
Or5b116	A	C	19: 13,422,807 (GRCm39)	T144P	possibly damaging	Het
Or8g30	A	T	9: 39,230,277 (GRCm39)	M211K	probably benign	Het
Or8k40	A	T	2: 86,584,366 (GRCm39)	S239T	probably damaging	Het
Pfkfb3	A	T	2: 11,506,474 (GRCm39)	I13N	probably damaging	Het
Pim1	T	A	17: 29,710,740 (GRCm39)	D114E	possibly damaging	Het
Pkd1	T	C	17: 24,792,792 (GRCm39)	L1493P	probably damaging	Het
Plb1	A	T	5: 32,502,259 (GRCm39)		probably benign	Het
Plch1	A	T	3: 63,610,015 (GRCm39)	Y872*	probably null	Het
Rictor	A	G	15: 6,819,079 (GRCm39)	D1434G	probably benign	Het
Rptor	G	A	11: 119,615,971 (GRCm39)	G162R	probably damaging	Het
Serping1	T	C	2: 84,596,162 (GRCm39)	D424G	probably damaging	Het
Slit2	A	G	5: 48,377,395 (GRCm39)	I475V	possibly damaging	Het
Snx31	G	T	15: 36,525,833 (GRCm39)	Q289K	probably benign	Het
Tek	T	C	4: 94,740,002 (GRCm39)	I750T	probably damaging	Het
Tet2	A	T	3: 133,177,159 (GRCm39)	L1296*	probably null	Het
Tmem145	T	A	7: 25,014,304 (GRCm39)	F459I	probably damaging	Het
Uba5	A	T	9: 103,931,328 (GRCm39)	V247D	possibly damaging	Het
Vmn1r83	T	C	7: 12,055,617 (GRCm39)	M147V	probably benign	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Zfp609	A	G	9: 65,608,287 (GRCm39)	S1198P	probably benign	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
IGL02390:Tbc1d13	APN	2	30,027,399 (GRCm39)	unclassified	probably benign
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

2016-08-02