Mutagenetix > Incidental Mutation

Incidental Mutation 'R8479:Tbc1d19'

657422

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d19

Ensembl Gene

ENSMUSG00000039178

Gene Name

TBC1 domain family, member 19

Synonyms

2810453K03Rik

MMRRC Submission

067923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R8479 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53966948-54061307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54041031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 371 (M371K)

Ref Sequence

ENSEMBL: ENSMUSP00000040585 (fasta)

Gene Model

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

AlphaFold

Q8VDV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037337
AA Change: M371K

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040585
Gene: ENSMUSG00000039178
AA Change: M371K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201958

Meta Mutation Damage Score

0.8964

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,061 (GRCm39)	H241Y	probably benign	Het
Afg3l2	C	T	18: 67,581,986 (GRCm39)	G29D	probably benign	Het
Ano2	T	C	6: 125,689,123 (GRCm39)	S52P	possibly damaging	Het
Atp11a	A	T	8: 12,892,932 (GRCm39)	E641V	possibly damaging	Het
Atp6v1d	T	C	12: 78,896,520 (GRCm39)	T116A	probably benign	Het
Cacna2d2	T	C	9: 107,403,596 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,574,628 (GRCm39)	Y537*	probably null	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cntnap2	C	T	6: 46,736,707 (GRCm39)	A711V	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Crhbp	A	G	13: 95,578,632 (GRCm39)	V163A	possibly damaging	Het
Crmp1	C	A	5: 37,441,502 (GRCm39)	P414Q	possibly damaging	Het
Cse1l	G	A	2: 166,763,893 (GRCm39)	E78K	possibly damaging	Het
Ctnna2	A	G	6: 77,735,573 (GRCm39)	V35A	probably damaging	Het
Ddx1	T	A	12: 13,270,749 (GRCm39)	N654I	probably damaging	Het
Dido1	A	T	2: 180,315,022 (GRCm39)		probably null	Het
Dmtf1	C	T	5: 9,170,428 (GRCm39)	V630I	probably damaging	Het
Ercc6	T	C	14: 32,248,363 (GRCm39)	S305P	probably benign	Het
Ercc6l2	T	A	13: 63,972,629 (GRCm39)	S37T	possibly damaging	Het
Ess2	T	C	16: 17,728,805 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,419,862 (GRCm39)	M138T	probably damaging	Het
Galnt9	T	C	5: 110,692,617 (GRCm39)	V17A	probably benign	Het
Gm7324	T	C	14: 43,952,220 (GRCm39)	S288P	probably benign	Het
Gucy2e	G	A	11: 69,123,789 (GRCm39)	A370V	probably benign	Het
H2-T13	G	A	17: 36,395,111 (GRCm39)	A2V	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Ipo7	G	A	7: 109,638,452 (GRCm39)	V240I	probably benign	Het
Lrrc4c	A	G	2: 97,459,977 (GRCm39)	Y201C	probably damaging	Het
Ly6g2	A	G	15: 75,089,626 (GRCm39)	T45A	probably damaging	Het
Mapkap1	A	T	2: 34,471,302 (GRCm39)	S389C	probably damaging	Het
Met	G	T	6: 17,491,746 (GRCm39)		probably null	Het
Misp	T	C	10: 79,663,750 (GRCm39)	F575L	possibly damaging	Het
Mtmr11	T	C	3: 96,071,051 (GRCm39)	L136P	probably damaging	Het
Muc4	C	T	16: 32,574,799 (GRCm39)	T1128M	possibly damaging	Het
Nfyc	A	T	4: 120,626,089 (GRCm39)	V70E	probably damaging	Het
Nphp4	T	C	4: 152,608,747 (GRCm39)	S452P	probably benign	Het
Oasl2	T	A	5: 115,035,852 (GRCm39)	F43I	probably damaging	Het
Or10ak11	A	G	4: 118,687,212 (GRCm39)	C141R	probably damaging	Het
Or5g25	A	G	2: 85,478,447 (GRCm39)	S73P	probably damaging	Het
Pros1	G	T	16: 62,728,102 (GRCm39)	G269W	probably damaging	Het
Rif1	A	C	2: 52,002,563 (GRCm39)	S2006R	possibly damaging	Het
Ror2	G	T	13: 53,271,400 (GRCm39)	N306K	probably damaging	Het
Rragd	C	T	4: 33,018,734 (GRCm39)	A379V	probably benign	Het
Slc10a2	C	T	8: 5,148,443 (GRCm39)		probably null	Het
Susd3	C	T	13: 49,390,952 (GRCm39)	G113S	probably benign	Het
Tnn	C	A	1: 159,950,397 (GRCm39)	R736S	probably benign	Het
Trio	T	C	15: 27,901,286 (GRCm39)	T323A	probably benign	Het
Ubqln1	G	A	13: 58,339,653 (GRCm39)	P324S	probably benign	Het
Uspl1	T	C	5: 149,152,004 (GRCm39)	L1068P	probably damaging	Het
Vmn2r86	A	T	10: 130,282,735 (GRCm39)	I627N	probably damaging	Het
Wdr35	C	A	12: 9,035,985 (GRCm39)	T252K	probably benign	Het
Zfp62	T	C	11: 49,107,319 (GRCm39)	I470T	probably damaging	Het

Other mutations in Tbc1d19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01121:Tbc1d19	APN	5	54,054,404 (GRCm39)	nonsense	probably null
IGL01684:Tbc1d19	APN	5	54,014,221 (GRCm39)	missense	probably benign	0.31
IGL02476:Tbc1d19	APN	5	54,046,755 (GRCm39)	splice site	probably null
IGL02869:Tbc1d19	APN	5	53,992,559 (GRCm39)	missense	probably benign	0.02
IGL03036:Tbc1d19	APN	5	54,054,389 (GRCm39)	missense	probably damaging	1.00
IGL03099:Tbc1d19	APN	5	54,040,997 (GRCm39)	splice site	probably benign
LCD18:Tbc1d19	UTSW	5	53,974,051 (GRCm39)	intron	probably benign
R0194:Tbc1d19	UTSW	5	54,017,498 (GRCm39)	missense	probably damaging	1.00
R1729:Tbc1d19	UTSW	5	53,986,714 (GRCm39)	missense	probably damaging	1.00
R1776:Tbc1d19	UTSW	5	54,046,653 (GRCm39)	splice site	probably null
R1784:Tbc1d19	UTSW	5	53,986,714 (GRCm39)	missense	probably damaging	1.00
R1902:Tbc1d19	UTSW	5	53,986,695 (GRCm39)	missense	probably benign	0.00
R3431:Tbc1d19	UTSW	5	54,005,548 (GRCm39)	unclassified	probably benign
R3432:Tbc1d19	UTSW	5	54,005,548 (GRCm39)	unclassified	probably benign
R4333:Tbc1d19	UTSW	5	54,029,619 (GRCm39)	missense	possibly damaging	0.93
R4335:Tbc1d19	UTSW	5	54,029,619 (GRCm39)	missense	possibly damaging	0.93
R4681:Tbc1d19	UTSW	5	54,029,595 (GRCm39)	missense	probably damaging	1.00
R4812:Tbc1d19	UTSW	5	53,967,148 (GRCm39)	missense	probably damaging	0.99
R5178:Tbc1d19	UTSW	5	54,046,667 (GRCm39)	missense	possibly damaging	0.84
R5214:Tbc1d19	UTSW	5	54,007,183 (GRCm39)	missense	probably benign	0.00
R6265:Tbc1d19	UTSW	5	53,995,266 (GRCm39)	missense	probably benign	0.06
R6372:Tbc1d19	UTSW	5	54,014,252 (GRCm39)	missense	possibly damaging	0.55
R6494:Tbc1d19	UTSW	5	53,986,725 (GRCm39)	missense	probably benign	0.13
R6495:Tbc1d19	UTSW	5	54,046,555 (GRCm39)	splice site	probably null
R6612:Tbc1d19	UTSW	5	53,967,187 (GRCm39)	missense	possibly damaging	0.88
R6787:Tbc1d19	UTSW	5	53,992,591 (GRCm39)	splice site	probably null
R6965:Tbc1d19	UTSW	5	54,014,266 (GRCm39)	critical splice donor site	probably null
R7275:Tbc1d19	UTSW	5	54,029,618 (GRCm39)	missense	probably damaging	1.00
R7642:Tbc1d19	UTSW	5	54,014,260 (GRCm39)	missense	probably damaging	0.98
R7655:Tbc1d19	UTSW	5	54,054,377 (GRCm39)	missense	probably damaging	1.00
R7656:Tbc1d19	UTSW	5	54,054,377 (GRCm39)	missense	probably damaging	1.00
R8314:Tbc1d19	UTSW	5	54,054,389 (GRCm39)	missense	probably damaging	1.00
X0026:Tbc1d19	UTSW	5	53,992,589 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTTGCCTCATGACTAACTCC -3'
(R):5'- TCATAGCAACCGTCACAGTG -3'

Sequencing Primer
(F):5'- CTTGCTTACTCAGTCTCAGATACAAG -3'
(R):5'- AACCGTCACAGTGTGCTTTAATTC -3'

Posted On

2021-01-18