Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03036:Tbc1d19'

408661

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d19

Ensembl Gene

ENSMUSG00000039178

Gene Name

TBC1 domain family, member 19

Synonyms

2810453K03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

IGL03036

Quality Score

Status

Chromosome

Chromosomal Location

53966948-54061307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54054389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 459 (D459G)

Ref Sequence

ENSEMBL: ENSMUSP00000040585 (fasta)

Gene Model

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

AlphaFold

Q8VDV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037337
AA Change: D459G

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

SMART Domains

Protein: ENSMUSP00000040585
Gene: ENSMUSG00000039178
AA Change: D459G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202880

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	T	10: 80,421,534 (GRCm39)	Y145*	probably null	Het
Afdn	T	G	17: 14,108,350 (GRCm39)	I1291S	probably benign	Het
Arfgap3	T	G	15: 83,191,127 (GRCm39)	I16L	possibly damaging	Het
Bbs12	T	A	3: 37,373,343 (GRCm39)	H45Q	possibly damaging	Het
Brpf3	T	C	17: 29,043,022 (GRCm39)	L1021P	possibly damaging	Het
Cep170	A	G	1: 176,596,903 (GRCm39)	S485P	possibly damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Chst3	A	T	10: 60,022,261 (GRCm39)	Y195*	probably null	Het
Clmn	T	C	12: 104,740,782 (GRCm39)	Y125C	probably damaging	Het
Col13a1	A	G	10: 61,729,692 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,002,348 (GRCm39)	I688N	probably damaging	Het
Cpn2	A	T	16: 30,079,647 (GRCm39)	L18H	probably benign	Het
Crybg3	T	A	16: 59,375,542 (GRCm39)	H1904L	possibly damaging	Het
Csde1	C	T	3: 102,951,155 (GRCm39)	P249S	probably damaging	Het
Dcaf1	T	C	9: 106,721,339 (GRCm39)	L377P	probably damaging	Het
Dmwd	A	T	7: 18,815,054 (GRCm39)	K568M	probably damaging	Het
Dsg2	T	C	18: 20,712,134 (GRCm39)	I90T	probably damaging	Het
Dytn	A	G	1: 63,680,281 (GRCm39)	I426T	probably damaging	Het
Edc4	G	A	8: 106,613,943 (GRCm39)		probably null	Het
Elac1	G	T	18: 73,871,985 (GRCm39)	Q337K	probably benign	Het
Exd2	G	T	12: 80,536,185 (GRCm39)	A272S	probably damaging	Het
F13b	A	G	1: 139,435,853 (GRCm39)	I220V	possibly damaging	Het
Fblim1	G	T	4: 141,310,435 (GRCm39)	R276S	possibly damaging	Het
Fn1	A	C	1: 71,668,932 (GRCm39)	L671R	probably damaging	Het
Frem1	A	T	4: 82,877,576 (GRCm39)	F1334I	possibly damaging	Het
H2-T23	T	A	17: 36,343,249 (GRCm39)	I43F	possibly damaging	Het
Hp1bp3	G	A	4: 137,956,043 (GRCm39)	G202D	probably damaging	Het
Kdm5b	A	G	1: 134,536,675 (GRCm39)	M632V	probably damaging	Het
Klra5	T	A	6: 129,885,830 (GRCm39)	S20C	probably damaging	Het
Lancl1	A	T	1: 67,046,074 (GRCm39)	C276S	probably damaging	Het
Lect2	A	G	13: 56,690,520 (GRCm39)	*152Q	probably null	Het
Maff	C	A	15: 79,241,658 (GRCm39)	S25*	probably null	Het
Mtr	A	G	13: 12,262,263 (GRCm39)	L171P	probably damaging	Het
Ndufs1	A	T	1: 63,202,855 (GRCm39)	Y236*	probably null	Het
Neb	A	C	2: 52,134,165 (GRCm39)	Y3273D	probably damaging	Het
Nup133	A	T	8: 124,673,333 (GRCm39)	I66K	probably benign	Het
Or4c110	T	C	2: 88,832,459 (GRCm39)	M58V	possibly damaging	Het
Psmd14	A	G	2: 61,614,205 (GRCm39)	Y200C	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Ptk2b	T	A	14: 66,411,344 (GRCm39)		probably benign	Het
Pum3	G	A	19: 27,398,713 (GRCm39)	T279M	probably damaging	Het
Rabl6	C	T	2: 25,474,868 (GRCm39)	G614D	probably benign	Het
Ripk3	T	C	14: 56,024,796 (GRCm39)	D128G	probably benign	Het
Serinc4	A	T	2: 121,270,039 (GRCm39)		probably benign	Het
Slco1a8	T	G	6: 141,954,333 (GRCm39)	I47L	possibly damaging	Het
Sorbs2	T	C	8: 46,235,902 (GRCm39)	S322P	probably benign	Het
Spmap2l	A	C	5: 77,164,197 (GRCm39)	K67Q	possibly damaging	Het
Srebf1	A	T	11: 60,111,284 (GRCm39)	I29N	possibly damaging	Het
Stk38l	T	C	6: 146,670,372 (GRCm39)	L238S	probably damaging	Het
Supt20	T	A	3: 54,616,723 (GRCm39)	C298*	probably null	Het
Ulk2	A	T	11: 61,725,660 (GRCm39)	L139M	probably damaging	Het
Unc13b	A	G	4: 43,235,249 (GRCm39)	N3279S	probably damaging	Het
Ush2a	A	G	1: 188,596,818 (GRCm39)	R3853G	possibly damaging	Het
Usp7	C	T	16: 8,556,078 (GRCm39)	M24I	probably benign	Het
Vil1	A	G	1: 74,458,771 (GRCm39)	T131A	probably damaging	Het
Vmn2r2	C	T	3: 64,024,321 (GRCm39)	M753I	probably benign	Het
Vmn2r74	A	T	7: 85,601,900 (GRCm39)	Y579*	probably null	Het
Zdhhc3	A	T	9: 122,929,582 (GRCm39)	Y18N	probably damaging	Het
Zfp609	C	T	9: 65,609,927 (GRCm39)	S1012N	possibly damaging	Het
Zfr2	A	T	10: 81,077,985 (GRCm39)	M271L	probably benign	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
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
R8479:Tbc1d19	UTSW	5	54,041,031 (GRCm39)	missense	possibly damaging	0.83
X0026:Tbc1d19	UTSW	5	53,992,589 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02