Mutagenetix > Incidental Mutation

Incidental Mutation 'R5853:Tbc1d13'

490506

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d13

Ensembl Gene

ENSMUSG00000039678

Gene Name

TBC1 domain family, member 13

Synonyms

2600014A06Rik

MMRRC Submission

044068-MU

Accession Numbers

Essential gene?

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

Stock #

R5853 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

30023758-30042025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30027393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 100 (H100Q)

Ref Sequence

ENSEMBL: ENSMUSP00000048426 (fasta)

Gene Model

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

AlphaFold

Q8R3D1

Predicted Effect

probably damaging
Transcript: ENSMUST00000044556
AA Change: H100Q

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

SMART Domains

Protein: ENSMUSP00000048426
Gene: ENSMUSG00000039678
AA Change: H100Q

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

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,939,806 (GRCm39)	V303I	probably benign	Het
Abca4	G	T	3: 121,897,180 (GRCm39)	V620L	probably benign	Het
Ankk1	A	T	9: 49,329,995 (GRCm39)	V320E	possibly damaging	Het
Aoah	G	T	13: 21,184,072 (GRCm39)	A379S	probably benign	Het
Apol7e	A	G	15: 77,598,667 (GRCm39)	D44G	probably benign	Het
Atf2	T	C	2: 73,658,813 (GRCm39)		probably null	Het
Cd209b	T	C	8: 3,976,549 (GRCm39)		probably null	Het
Chek1	G	A	9: 36,624,983 (GRCm39)	S366L	probably damaging	Het
Chpf2	T	C	5: 24,797,190 (GRCm39)	L712P	probably damaging	Het
Clmn	C	A	12: 104,750,161 (GRCm39)		probably null	Het
Cnksr3	T	C	10: 7,092,977 (GRCm39)	D178G	probably benign	Het
Cpox	T	C	16: 58,495,780 (GRCm39)	Y366H	probably damaging	Het
Dnah3	A	G	7: 119,538,056 (GRCm39)	F3632S	probably damaging	Het
Eif5b	T	A	1: 38,076,388 (GRCm39)	D645E	probably damaging	Het
Emilin1	G	A	5: 31,075,966 (GRCm39)	E736K	probably damaging	Het
Gcnt4	G	A	13: 97,083,160 (GRCm39)	R152Q	probably benign	Het
Il6st	T	C	13: 112,618,071 (GRCm39)	S162P	probably damaging	Het
Iqub	T	C	6: 24,491,601 (GRCm39)	K362E	probably benign	Het
Kif22	G	T	7: 126,632,539 (GRCm39)	P257Q	possibly damaging	Het
Lhx2	T	C	2: 38,259,053 (GRCm39)	V378A	probably damaging	Het
Lipo3	A	G	19: 33,759,630 (GRCm39)	V202A	probably benign	Het
Lrp1b	T	A	2: 40,553,738 (GRCm39)	N366I	unknown	Het
Mbip	T	C	12: 56,382,662 (GRCm39)	D268G	probably damaging	Het
Mc5r	A	G	18: 68,472,564 (GRCm39)	M308V	probably benign	Het
Mndal	C	A	1: 173,690,070 (GRCm39)	G420V	probably damaging	Het
Nbea	A	T	3: 55,899,822 (GRCm39)	N1442K	probably damaging	Het
Ndufv1	A	T	19: 4,058,811 (GRCm39)		probably null	Het
Ofcc1	A	G	13: 40,360,193 (GRCm39)	S279P	probably benign	Het
Or4k2	A	T	14: 50,424,326 (GRCm39)	M116K	possibly damaging	Het
Or6b2b	T	C	1: 92,419,439 (GRCm39)	I13V	probably benign	Het
Pabpc1l	A	T	2: 163,891,438 (GRCm39)	H552L	probably benign	Het
Pigr	T	A	1: 130,774,341 (GRCm39)	C440*	probably null	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Prss30	C	T	17: 24,191,820 (GRCm39)	V271I	probably damaging	Het
Psme4	T	A	11: 30,741,234 (GRCm39)		probably null	Het
Qrich1	T	A	9: 108,410,807 (GRCm39)		probably benign	Het
Rem1	C	G	2: 152,470,200 (GRCm39)	A62G	possibly damaging	Het
Rftn1	T	C	17: 50,354,354 (GRCm39)	N58S	probably damaging	Het
Rp9	G	A	9: 22,360,065 (GRCm39)		probably benign	Het
Rrp1b	G	A	17: 32,275,658 (GRCm39)	V402I	possibly damaging	Het
Slc25a33	A	T	4: 149,838,349 (GRCm39)	Y108N	probably benign	Het
Slc3a1	A	G	17: 85,340,008 (GRCm39)	M189V	probably damaging	Het
Slc44a1	A	C	4: 53,528,682 (GRCm39)	K144T	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tmem70	T	C	1: 16,735,556 (GRCm39)	W9R	possibly damaging	Het
Tspan1	A	G	4: 116,020,502 (GRCm39)		probably null	Het
Unc13a	T	C	8: 72,107,773 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,323,738 (GRCm39)	F395S	probably damaging	Het
Uvrag	A	C	7: 98,537,284 (GRCm39)	L637R	possibly damaging	Het
Vmn1r213	T	G	13: 23,195,684 (GRCm39)	L3W	probably benign	Het
Zfp280d	C	T	9: 72,238,224 (GRCm39)	T528I	probably benign	Het
Zfp526	C	T	7: 24,924,601 (GRCm39)	Q287*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGACCTATGATGAGGAGCAACC -3'
(R):5'- ACGTTATGAACTAGGCCTGG -3'

Sequencing Primer
(F):5'- GGAGCAACCTCACATGGAGC -3'
(R):5'- CCCTTGTGTCTAGTGCAAGCAG -3'

Posted On

2017-10-20