Mutagenetix > Incidental Mutation

Incidental Mutation 'R6612:Tbc1d19'

523653

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d19

Ensembl Gene

ENSMUSG00000039178

Gene Name

TBC1 domain family, member 19

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R6612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53809606-53903965 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53809845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 29 (E29G)

Ref Sequence

ENSEMBL: ENSMUSP00000040585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037337] [ENSMUST00000201958] [ENSMUST00000202528] [ENSMUST00000202599]

AlphaFold

Q8VDV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037337
AA Change: E29G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040585
Gene: ENSMUSG00000039178
AA Change: E29G

Domain	Start	End	E-Value	Type
TBC	248	496	8.07e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201727

Predicted Effect

probably benign
Transcript: ENSMUST00000201958
AA Change: E29G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000202528
AA Change: E29G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000202599
AA Change: E29G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202695

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,007	D320E	possibly damaging	Het
4930523C07Rik	A	C	1: 160,075,234	N25H	probably damaging	Het
Akr1c14	A	T	13: 4,065,331	S87C	probably benign	Het
Arhgef37	T	C	18: 61,494,881	T664A	probably benign	Het
Arsi	A	G	18: 60,912,456	T73A	probably benign	Het
Cacnb2	A	T	2: 14,975,149	T274S	probably benign	Het
Cd244	A	G	1: 171,574,104	T133A	probably benign	Het
Ciz1	T	A	2: 32,377,311	S720T	possibly damaging	Het
Cxcr6	T	A	9: 123,810,720	I262N	probably damaging	Het
Cyp2a4	T	A	7: 26,308,647	F160I	probably benign	Het
Esrra	T	C	19: 6,911,852	T390A	probably benign	Het
Fopnl	TTGTG	TTG	16: 14,300,145		probably null	Het
Gm17079	C	A	14: 51,694,375	Q91H	probably damaging	Het
Gm17079	T	A	14: 51,694,376	Q91L	possibly damaging	Het
Got1	A	G	19: 43,504,803	S256P	probably damaging	Het
Gria4	C	T	9: 4,472,206	V428I	possibly damaging	Het
Grin2b	A	G	6: 135,740,998	Y699H	probably damaging	Het
Hipk2	T	C	6: 38,818,873	I154V	probably benign	Het
Hkdc1	T	C	10: 62,395,441	E628G	possibly damaging	Het
Hmcn1	C	G	1: 150,595,118		probably null	Het
Hspbap1	T	G	16: 35,801,591	L102W	probably damaging	Het
Iqcb1	G	A	16: 36,871,661		probably benign	Het
Itga7	A	G	10: 128,948,993	Y763C	possibly damaging	Het
Itgb4	A	T	11: 115,984,071	D418V	probably benign	Het
Jakmip2	T	C	18: 43,557,367	D631G	probably damaging	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Kcnu1	A	G	8: 25,918,316	I52V	probably benign	Het
Kdm5a	T	C	6: 120,430,228	I1468T	probably damaging	Het
Kmt2d	A	G	15: 98,845,858		probably benign	Het
Mab21l3	A	G	3: 101,818,645	V345A	possibly damaging	Het
March10	A	T	11: 105,397,078	S133T	probably damaging	Het
Mccc1	T	C	3: 35,993,930	S115G	probably benign	Het
Mchr1	G	A	15: 81,237,870	V274M	probably damaging	Het
Mrgpra3	T	A	7: 47,590,035	I48F	probably benign	Het
Myo9a	T	A	9: 59,827,196	F687Y	probably damaging	Het
Nfrkb	T	A	9: 31,397,006	L216*	probably null	Het
Nrxn3	A	T	12: 89,813,332		probably benign	Het
Olfr746	A	T	14: 50,653,633	Y132F	probably damaging	Het
Olig2	T	A	16: 91,226,881	M161K	probably damaging	Het
Pcdh15	T	A	10: 74,185,378	N141K	probably damaging	Het
Pcdha4	T	C	18: 36,954,978	V738A	probably benign	Het
Pdgfra	T	C	5: 75,167,842	S212P	probably benign	Het
Plk3	G	A	4: 117,132,737	Q194*	probably null	Het
Ppp1r36	T	C	12: 76,437,604	I216T	possibly damaging	Het
Ptprz1	T	A	6: 23,052,082	N2303K	probably damaging	Het
Rab25	G	A	3: 88,543,403	T117M	probably damaging	Het
Slc25a47	T	C	12: 108,855,978	V231A	probably benign	Het
Slx4	G	A	16: 3,985,276	H1225Y	probably damaging	Het
Snx13	C	T	12: 35,106,759	A470V	probably benign	Het
Spa17	A	G	9: 37,605,794	F101S	probably benign	Het
Ssh1	C	T	5: 113,958,730	A217T	probably benign	Het
Synm	G	C	7: 67,733,516	T1466S	probably damaging	Het
Teddm2	T	A	1: 153,850,445	T175S	probably benign	Het
Tet2	T	A	3: 133,487,335	H446L	possibly damaging	Het
Tmem110	T	A	14: 30,871,564		probably null	Het
Tpm3-rs7	G	T	14: 113,314,836	R54L	probably benign	Het
Ttc5	T	A	14: 50,785,469		probably null	Het
Tyk2	G	T	9: 21,108,016	Q1014K	probably benign	Het
Ush2a	T	C	1: 188,911,397	S4319P	possibly damaging	Het
Zbtb10	C	A	3: 9,252,065	H312Q	possibly damaging	Het
Zfp462	A	T	4: 55,012,324		probably null	Het

Other mutations in Tbc1d19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01121:Tbc1d19	APN	5	53897062	nonsense	probably null
IGL01684:Tbc1d19	APN	5	53856879	missense	probably benign	0.31
IGL02476:Tbc1d19	APN	5	53889413	splice site	probably null
IGL02869:Tbc1d19	APN	5	53835217	missense	probably benign	0.02
IGL03036:Tbc1d19	APN	5	53897047	missense	probably damaging	1.00
IGL03099:Tbc1d19	APN	5	53883655	splice site	probably benign
LCD18:Tbc1d19	UTSW	5	53816709	intron	probably benign
R0194:Tbc1d19	UTSW	5	53860156	missense	probably damaging	1.00
R1729:Tbc1d19	UTSW	5	53829372	missense	probably damaging	1.00
R1776:Tbc1d19	UTSW	5	53889311	splice site	probably null
R1784:Tbc1d19	UTSW	5	53829372	missense	probably damaging	1.00
R1902:Tbc1d19	UTSW	5	53829353	missense	probably benign	0.00
R3431:Tbc1d19	UTSW	5	53848206	unclassified	probably benign
R3432:Tbc1d19	UTSW	5	53848206	unclassified	probably benign
R4333:Tbc1d19	UTSW	5	53872277	missense	possibly damaging	0.93
R4335:Tbc1d19	UTSW	5	53872277	missense	possibly damaging	0.93
R4681:Tbc1d19	UTSW	5	53872253	missense	probably damaging	1.00
R4812:Tbc1d19	UTSW	5	53809806	missense	probably damaging	0.99
R5178:Tbc1d19	UTSW	5	53889325	missense	possibly damaging	0.84
R5214:Tbc1d19	UTSW	5	53849841	missense	probably benign	0.00
R6265:Tbc1d19	UTSW	5	53837924	missense	probably benign	0.06
R6372:Tbc1d19	UTSW	5	53856910	missense	possibly damaging	0.55
R6494:Tbc1d19	UTSW	5	53829383	missense	probably benign	0.13
R6495:Tbc1d19	UTSW	5	53889213	splice site	probably null
R6787:Tbc1d19	UTSW	5	53835249	splice site	probably null
R6965:Tbc1d19	UTSW	5	53856924	critical splice donor site	probably null
R7275:Tbc1d19	UTSW	5	53872276	missense	probably damaging	1.00
R7642:Tbc1d19	UTSW	5	53856918	missense	probably damaging	0.98
R7655:Tbc1d19	UTSW	5	53897035	missense	probably damaging	1.00
R7656:Tbc1d19	UTSW	5	53897035	missense	probably damaging	1.00
R8314:Tbc1d19	UTSW	5	53897047	missense	probably damaging	1.00
R8479:Tbc1d19	UTSW	5	53883689	missense	possibly damaging	0.83
X0026:Tbc1d19	UTSW	5	53835247	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGGTCTTTCAGATGCGGAG -3'
(R):5'- TCCTGGGTCTGAGCAAACAAG -3'

Sequencing Primer
(F):5'- CTTTCAGATGCGGAGGGGAC -3'
(R):5'- CAAACAAGGTGCAAGGCTC -3'

Posted On

2018-06-22