Mutagenetix > Incidental Mutation

Incidental Mutation 'R7275:Tbc1d19'

565508

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d19

Ensembl Gene

ENSMUSG00000039178

Gene Name

TBC1 domain family, member 19

Synonyms

2810453K03Rik

MMRRC Submission

045358-MU

Accession Numbers

Essential gene?

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

Stock #

R7275 (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 54029618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 326 (D326E)

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: D326E

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

SMART Domains

Protein: ENSMUSP00000040585
Gene: ENSMUSG00000039178
AA Change: D326E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201958

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	A	12: 72,956,795 (GRCm39)	T132S	possibly damaging	Het
4933412E24Rik	A	G	15: 59,887,738 (GRCm39)	V234A	probably benign	Het
Abtb3	T	A	10: 85,490,346 (GRCm39)	L1004Q	probably damaging	Het
Acsm5	A	G	7: 119,136,511 (GRCm39)	T361A	possibly damaging	Het
Agxt2	G	A	15: 10,358,753 (GRCm39)	R24H	probably benign	Het
Asb16	G	T	11: 102,159,935 (GRCm39)	W96L	probably damaging	Het
Bche	T	A	3: 73,607,969 (GRCm39)	T486S	probably benign	Het
Bpnt2	C	A	4: 4,792,962 (GRCm39)	G48W	probably damaging	Het
Cast	T	C	13: 74,875,453 (GRCm39)	T382A	probably benign	Het
Cdcp1	T	A	9: 123,014,119 (GRCm39)	K218N	possibly damaging	Het
Ceacam18	G	A	7: 43,291,308 (GRCm39)	G250D	probably damaging	Het
Ciao3	T	A	17: 25,994,108 (GRCm39)	V52E	possibly damaging	Het
Ctnnd2	T	C	15: 30,905,855 (GRCm39)	I834T	possibly damaging	Het
Cyp11b2	C	A	15: 74,725,840 (GRCm39)	G136W	probably damaging	Het
Dis3	A	G	14: 99,324,925 (GRCm39)	V502A	probably damaging	Het
Dnai2	T	A	11: 114,648,054 (GRCm39)	M610K	unknown	Het
Drosha	G	A	15: 12,846,169 (GRCm39)	V435I	possibly damaging	Het
Dsc2	T	A	18: 20,184,236 (GRCm39)	R51*	probably null	Het
Ergic2	A	T	6: 148,096,757 (GRCm39)	C170S	probably damaging	Het
Exoc7	A	T	11: 116,195,688 (GRCm39)		probably null	Het
Fbxw25	G	T	9: 109,483,660 (GRCm39)	A184E		Het
Gm4846	T	A	1: 166,314,648 (GRCm39)	T332S	probably benign	Het
Greb1l	T	A	18: 10,544,561 (GRCm39)	M1385K	probably benign	Het
Grik1	T	C	16: 87,709,708 (GRCm39)	N871S	probably benign	Het
Il11ra1	T	C	4: 41,765,109 (GRCm39)	L145P	probably damaging	Het
Inpp5e	A	G	2: 26,298,104 (GRCm39)	S166P	probably benign	Het
Kdm4b	T	A	17: 56,703,333 (GRCm39)	L676H	probably damaging	Het
Lrp2	T	A	2: 69,289,875 (GRCm39)	K3655*	probably null	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Map3k14	T	C	11: 103,117,848 (GRCm39)	E648G	probably damaging	Het
Mbtps1	A	T	8: 120,269,489 (GRCm39)	D200E	probably benign	Het
Mttp	T	C	3: 137,829,546 (GRCm39)	D114G	probably benign	Het
Mup13	G	A	4: 61,182,752 (GRCm39)	T101M	probably benign	Het
Neb	T	A	2: 52,096,956 (GRCm39)	T4953S	probably benign	Het
Nfasc	A	C	1: 132,562,001 (GRCm39)	L147R	probably damaging	Het
Obox6	T	C	7: 15,567,805 (GRCm39)	E214G	probably benign	Het
Opn3	T	C	1: 175,493,039 (GRCm39)	N175S	probably damaging	Het
Or1j12	A	T	2: 36,342,851 (GRCm39)	M85L	probably benign	Het
Or8g22	T	A	9: 38,958,815 (GRCm39)		probably benign	Het
Or8k22	C	A	2: 86,163,136 (GRCm39)	C188F	possibly damaging	Het
Osbpl3	G	T	6: 50,323,410 (GRCm39)	D224E	probably benign	Het
Osr2	A	G	15: 35,301,032 (GRCm39)	D196G	probably damaging	Het
Pde8b	T	A	13: 95,179,442 (GRCm39)	N405Y	probably damaging	Het
Pirb	A	G	7: 3,719,177 (GRCm39)	S571P	probably benign	Het
Psmc3	T	A	2: 90,886,275 (GRCm39)	I163N	probably damaging	Het
Rapgef4	A	G	2: 72,038,445 (GRCm39)	D532G	probably damaging	Het
Retreg1	A	G	15: 25,971,684 (GRCm39)	D208G	probably benign	Het
Rgsl1	T	G	1: 153,679,876 (GRCm39)		probably null	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Slc30a2	T	A	4: 134,076,581 (GRCm39)		probably null	Het
Slc6a19	T	C	13: 73,834,197 (GRCm39)	D335G	probably benign	Het
Slco4c1	G	A	1: 96,799,497 (GRCm39)	T113M	probably benign	Het
Speer1c	T	C	5: 10,295,192 (GRCm39)	N71D		Het
Stxbp6	A	G	12: 44,948,786 (GRCm39)	F108L	probably benign	Het
Sulf1	T	A	1: 12,921,189 (GRCm39)		probably null	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Trappc14	T	C	5: 138,261,839 (GRCm39)	S86G	probably benign	Het
Trgv3	A	G	13: 19,427,188 (GRCm39)	T24A	probably benign	Het
Trpm3	T	A	19: 22,956,048 (GRCm39)	M1170K	possibly damaging	Het
Tubgcp6	G	A	15: 88,987,146 (GRCm39)	Q1276*	probably null	Het
Tyrp1	A	G	4: 80,755,821 (GRCm39)	K197E	possibly damaging	Het
Ube3d	T	C	9: 86,322,679 (GRCm39)	D165G	probably damaging	Het
Zfp212	A	G	6: 47,897,678 (GRCm39)	T7A	probably benign	Het
Zhx1	T	C	15: 57,917,758 (GRCm39)	T163A	probably benign	Het
Zp2	A	T	7: 119,734,576 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CACATGGAGTCCCTCTGAGAAC -3'
(R):5'- TGGGTGCTGACATTGAAAGG -3'

Sequencing Primer
(F):5'- GGAGTCCCTCTGAGAACATTTAACG -3'
(R):5'- TGCTGACATTGAAAGGAAAGGC -3'

Posted On

2019-06-26