Mutagenetix > Incidental Mutation

Incidental Mutation 'R8314:Tbc1d19'

641558

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d19

Ensembl Gene

ENSMUSG00000039178

Gene Name

TBC1 domain family, member 19

Synonyms

2810453K03Rik

MMRRC Submission

067719-MU

Accession Numbers

Essential gene?

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

Stock #

R8314 (G1)

Quality Score

225.009

Status

Validated

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,777,993 (GRCm39)	T84S	probably benign	Het
4930533K18Rik	A	G	10: 70,711,106 (GRCm39)	T76A	noncoding transcript	Het
Adgrl1	C	T	8: 84,665,018 (GRCm39)	T1235I	probably damaging	Het
Ak4	C	T	4: 101,320,782 (GRCm39)	T197M	possibly damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Alox12e	T	C	11: 70,206,998 (GRCm39)	M603V	possibly damaging	Het
Ap3d1	A	T	10: 80,559,373 (GRCm39)	I267N	possibly damaging	Het
Arhgef2	T	A	3: 88,528,600 (GRCm39)	I12N	probably benign	Het
Asnsd1	A	T	1: 53,385,814 (GRCm39)	M520K	probably damaging	Het
B3galt5	T	C	16: 96,116,649 (GRCm39)	L94P	probably damaging	Het
Birc2	T	C	9: 7,872,942 (GRCm39)		probably benign	Het
Cd177	T	C	7: 24,450,013 (GRCm39)	S541G	probably benign	Het
Cdh8	T	C	8: 99,898,011 (GRCm39)	D434G	probably damaging	Het
Cdkn3	A	T	14: 47,007,330 (GRCm39)		silent	Het
Ciita	A	T	16: 10,328,852 (GRCm39)	R379W	probably damaging	Het
Cntrl	T	A	2: 35,065,155 (GRCm39)	M2153K	probably benign	Het
Csmd1	A	T	8: 16,208,258 (GRCm39)	D1232E	probably benign	Het
Cyp4a30b	A	C	4: 115,315,535 (GRCm39)	H252P	probably benign	Het
Dad1	G	A	14: 54,491,269 (GRCm39)	R11W	probably damaging	Het
Ddit3	A	G	10: 127,131,590 (GRCm39)		probably null	Het
Dusp22	G	A	13: 30,892,914 (GRCm39)		probably benign	Het
Dzank1	A	G	2: 144,344,878 (GRCm39)	L293P	probably damaging	Het
Edf1	A	G	2: 25,447,977 (GRCm39)	D5G	probably damaging	Het
Entrep3	T	C	3: 89,095,453 (GRCm39)		probably null	Het
Ep400	T	A	5: 110,903,619 (GRCm39)	M327L	unknown	Het
Fam135a	A	T	1: 24,061,002 (GRCm39)	H1341Q	possibly damaging	Het
Fbxl3	C	T	14: 103,326,876 (GRCm39)	V169I	probably benign	Het
Gm4787	A	G	12: 81,425,909 (GRCm39)	L83P	probably damaging	Het
Habp4	A	G	13: 64,332,565 (GRCm39)	E392G	probably damaging	Het
Hspg2	C	A	4: 137,266,986 (GRCm39)	P1997Q	probably benign	Het
Ints9	T	C	14: 65,266,479 (GRCm39)	S444P	probably damaging	Het
Kif18b	G	A	11: 102,803,900 (GRCm39)	S420L	probably benign	Het
Klhl17	T	A	4: 156,318,470 (GRCm39)	M51L	probably benign	Het
Kmt2b	C	T	7: 30,278,347 (GRCm39)	E1555K	probably damaging	Het
Malrd1	T	A	2: 15,757,643 (GRCm39)	D972E	unknown	Het
Mapk8ip3	A	T	17: 25,120,748 (GRCm39)	S805R	probably benign	Het
Mmp13	G	A	9: 7,272,931 (GRCm39)	C97Y	probably damaging	Het
Moxd1	T	A	10: 24,128,438 (GRCm39)	N163K	possibly damaging	Het
Nbea	T	C	3: 55,916,672 (GRCm39)	I863V	probably damaging	Het
Nectin4	A	G	1: 171,212,295 (GRCm39)	T298A	probably benign	Het
Net1	T	C	13: 3,962,672 (GRCm39)		probably benign	Het
Ntn1	T	C	11: 68,276,450 (GRCm39)	D166G	probably damaging	Het
Opa3	C	A	7: 18,978,940 (GRCm39)	A135E	possibly damaging	Het
Or1e31	T	G	11: 73,690,568 (GRCm39)	N5T	noncoding transcript	Het
Or4c3d	T	C	2: 89,882,441 (GRCm39)	T76A	probably benign	Het
Or51v14	T	C	7: 103,261,254 (GRCm39)	Q102R	probably damaging	Het
Or5w14	A	G	2: 87,541,546 (GRCm39)	F235L	probably benign	Het
Or8g30	A	G	9: 39,230,601 (GRCm39)	F103S	probably damaging	Het
Osbpl5	T	C	7: 143,248,833 (GRCm39)	I608V	probably benign	Het
Phc1	A	C	6: 122,297,937 (GRCm39)	S782R	unknown	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pip5k1b	T	A	19: 24,332,563 (GRCm39)	T374S	probably benign	Het
Prkaa1	A	G	15: 5,208,354 (GRCm39)	S541G	probably damaging	Het
Ptpn20	A	G	14: 33,344,504 (GRCm39)	N143D	possibly damaging	Het
Rabep1	A	G	11: 70,784,486 (GRCm39)	D207G	possibly damaging	Het
Rbbp8	G	A	18: 11,853,682 (GRCm39)	M296I	probably benign	Het
Recql4	C	A	15: 76,594,380 (GRCm39)	R46L	probably damaging	Het
Scgb2b18	T	C	7: 32,872,582 (GRCm39)	I74M	probably benign	Het
Shc4	A	G	2: 125,497,536 (GRCm39)	I391T	possibly damaging	Het
Slc38a4	A	G	15: 96,908,190 (GRCm39)	F184L	probably benign	Het
Slc7a6	A	G	8: 106,895,590 (GRCm39)		probably benign	Het
Smim13	G	T	13: 41,426,110 (GRCm39)	G49*	probably null	Het
Tnpo1	T	C	13: 99,021,133 (GRCm39)	N82S	possibly damaging	Het
Tpp2	G	A	1: 43,973,387 (GRCm39)	V47I	probably benign	Het
Umodl1	G	T	17: 31,203,806 (GRCm39)	A540S	probably damaging	Het
Vmn2r83	G	A	10: 79,317,313 (GRCm39)	V519I	possibly damaging	Het
Zfp641	T	C	15: 98,188,464 (GRCm39)	I139V	probably damaging	Het
Zfyve21	A	T	12: 111,789,715 (GRCm39)	I60F	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
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
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'- GCCTCTGACATTCTATAGCTTTTAGG -3'
(R):5'- GGAACGTGTTTTCTAAACCTGC -3'

Sequencing Primer
(F):5'- GCTTTTAGGAAATAAGGAGTCTT -3'
(R):5'- AACGTGTTTTCTAAACCTGCTCAATC -3'

Posted On

2020-07-28