Mutagenetix > Incidental Mutation

Incidental Mutation 'R9656:Tbc1d13'

727300

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d13

Ensembl Gene

ENSMUSG00000039678

Gene Name

TBC1 domain family, member 13

Synonyms

2600014A06Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9656 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30023758-30042025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30032429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 180 (T180I)

Ref Sequence

ENSEMBL: ENSMUSP00000048426 (fasta)

Gene Model

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

AlphaFold

Q8R3D1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044556
AA Change: T180I

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048426
Gene: ENSMUSG00000039678
AA Change: T180I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	G	A	8: 10,037,991 (GRCm39)	G196E	possibly damaging	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Atxn2	C	T	5: 121,922,061 (GRCm39)	T635I	possibly damaging	Het
Bbs10	T	A	10: 111,135,545 (GRCm39)	N219K	probably benign	Het
Bsn	T	A	9: 107,994,407 (GRCm39)	T623S	probably benign	Het
Btnl9	T	C	11: 49,060,008 (GRCm39)	D580G	probably damaging	Het
Cckar	A	G	5: 53,857,318 (GRCm39)	L364P	probably damaging	Het
Ccn5	A	G	2: 163,670,985 (GRCm39)	D164G	probably benign	Het
Cfap46	A	T	7: 139,235,816 (GRCm39)	M631K		Het
Col1a1	T	A	11: 94,839,372 (GRCm39)	S1006T	unknown	Het
Cpe	T	C	8: 65,047,980 (GRCm39)	Y428C	probably damaging	Het
Cyp2d26	C	A	15: 82,677,059 (GRCm39)	V122L	probably benign	Het
Fam114a1	T	C	5: 65,163,246 (GRCm39)	I181T	probably benign	Het
Fam83b	A	G	9: 76,452,863 (GRCm39)	V68A	probably benign	Het
Fanca	A	C	8: 124,031,482 (GRCm39)	V403G	probably benign	Het
Grin2a	T	C	16: 9,397,471 (GRCm39)	H872R	possibly damaging	Het
Grpel2	G	T	18: 61,859,361 (GRCm39)	R4S	probably benign	Het
Gstm1	T	C	3: 107,925,072 (GRCm39)	Y7C	probably damaging	Het
Hace1	A	T	10: 45,547,545 (GRCm39)	I497F	probably benign	Het
Hspg2	T	C	4: 137,279,196 (GRCm39)	V3093A	probably benign	Het
Ighv3-4	A	T	12: 114,217,295 (GRCm39)	F99I	possibly damaging	Het
Ints3	T	C	3: 90,299,839 (GRCm39)	M963V	probably null	Het
Krt12	T	C	11: 99,309,471 (GRCm39)	E263G		Het
L1td1	T	C	4: 98,622,223 (GRCm39)	F262L	probably benign	Het
Lrp2bp	A	G	8: 46,466,158 (GRCm39)	H110R	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Ncoa6	A	G	2: 155,274,846 (GRCm39)	I135T	probably damaging	Het
Nfatc3	G	A	8: 106,830,766 (GRCm39)	R695H	probably damaging	Het
Nkx1-2	T	A	7: 132,201,228 (GRCm39)	K10*	probably null	Het
Or2t44	G	A	11: 58,677,635 (GRCm39)	A192T	possibly damaging	Het
Or4f54	A	T	2: 111,122,633 (GRCm39)	T7S	probably benign	Het
Or5b110-ps1	T	C	19: 13,260,035 (GRCm39)	H129R	possibly damaging	Het
Or5b21	A	G	19: 12,839,247 (GRCm39)	Y36C	probably damaging	Het
Otog	A	G	7: 45,959,567 (GRCm39)	T719A	probably damaging	Het
Prkdc	T	G	16: 15,617,818 (GRCm39)	I3216M	probably benign	Het
Pygm	A	G	19: 6,438,187 (GRCm39)	D252G	probably benign	Het
Rae1	T	A	2: 172,854,590 (GRCm39)	Y332*	probably null	Het
Rbm12	A	T	2: 155,940,121 (GRCm39)	D50E	unknown	Het
Rbm6	G	A	9: 107,656,778 (GRCm39)	R1000W	probably damaging	Het
Rd3l	A	T	12: 111,946,614 (GRCm39)	V54E	possibly damaging	Het
Rft1	T	C	14: 30,404,714 (GRCm39)	V370A	probably benign	Het
Rfx8	T	C	1: 39,709,679 (GRCm39)	I449M	probably benign	Het
Satb1	A	T	17: 52,112,264 (GRCm39)	S117T	possibly damaging	Het
Slc24a2	T	C	4: 86,968,144 (GRCm39)	Y370C	probably damaging	Het
Slc5a4b	C	A	10: 75,944,391 (GRCm39)	V85L	probably damaging	Het
Snrpn	A	T	7: 59,635,715 (GRCm39)	V95E	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Spata33	A	T	8: 123,948,758 (GRCm39)	N130I	possibly damaging	Het
Spmip2	T	A	3: 79,313,183 (GRCm39)	F86I	probably benign	Het
Tap1	A	G	17: 34,412,525 (GRCm39)	S521G	probably damaging	Het
Tgm7	G	A	2: 120,940,191 (GRCm39)		probably benign	Het
Tiam1	A	G	16: 89,664,459 (GRCm39)	M583T	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn1r43	A	T	6: 89,847,440 (GRCm39)	H15Q	possibly damaging	Het
Zfp329	A	T	7: 12,544,417 (GRCm39)	V369E	probably damaging	Het
Zfp467	T	A	6: 48,419,603 (GRCm39)	E35V	possibly 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
IGL02390:Tbc1d13	APN	2	30,027,399 (GRCm39)	unclassified	probably benign
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
Z1088:Tbc1d13	UTSW	2	30,024,884 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCATTCCAATAGGAGGTTGTG -3'
(R):5'- ACAGCCTGTCAGGAAAAGC -3'

Sequencing Primer
(F):5'- ATTCCAATAGGAGGTTGTGCCCAG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2022-10-06