Mutagenetix > Incidental Mutation

Incidental Mutation 'R7655:Tbc1d19'

591122

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d19

Ensembl Gene

ENSMUSG00000039178

Gene Name

TBC1 domain family, member 19

Synonyms

MMRRC Submission

045731-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R7655 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53809606-53903965 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53897035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 455 (Y455C)

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: Y455C

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

SMART Domains

Protein: ENSMUSP00000040585
Gene: ENSMUSG00000039178
AA Change: Y455C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201958

Meta Mutation Damage Score

0.2108

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abitram	A	G	4: 56,804,218 (GRCm38)	I78V	probably benign	Het
Acot2	A	G	12: 83,992,917 (GRCm38)	Y400C	probably benign	Het
Agbl1	A	G	7: 76,409,332 (GRCm38)	M237V		Het
Atrnl1	C	A	19: 57,611,379 (GRCm38)	S9*	probably null	Het
BC031181	A	T	18: 75,009,335 (GRCm38)	K71*	probably null	Het
Bmal2	A	G	6: 146,806,442 (GRCm38)	T21A	probably benign	Het
Brpf1	A	T	6: 113,314,874 (GRCm38)	M294L	probably benign	Het
Camk2g	T	G	14: 20,739,342 (GRCm38)	D382A	possibly damaging	Het
Ccdc33	T	A	9: 58,118,465 (GRCm38)	R94W	probably damaging	Het
Cd244a	T	A	1: 171,577,255 (GRCm38)	L225Q	probably damaging	Het
Chsy1	G	T	7: 66,171,030 (GRCm38)	V338F	probably damaging	Het
Col14a1	A	G	15: 55,362,450 (GRCm38)	I170V	unknown	Het
Col6a2	G	T	10: 76,607,756 (GRCm38)	Q492K	probably benign	Het
Dnah12	G	T	14: 26,859,316 (GRCm38)	V3168L	probably benign	Het
Dnah7a	T	C	1: 53,496,005 (GRCm38)	S2699G	possibly damaging	Het
Fsip2	A	G	2: 82,977,542 (GRCm38)	K1402E	possibly damaging	Het
Ghdc	C	T	11: 100,769,667 (GRCm38)	A127T	probably benign	Het
Glp1r	T	C	17: 30,930,598 (GRCm38)		probably null	Het
Gm15922	T	C	7: 3,739,282 (GRCm38)	E82G	probably damaging	Het
Gm19410	A	T	8: 35,809,099 (GRCm38)	M1637L	probably benign	Het
Grm5	T	G	7: 88,130,251 (GRCm38)	D998E	probably benign	Het
Krtcap3	A	G	5: 31,252,560 (GRCm38)	T157A	probably damaging	Het
Luc7l2	A	G	6: 38,603,464 (GRCm38)	R333G	unknown	Het
Mdc1	T	G	17: 35,850,881 (GRCm38)	S895R	probably benign	Het
Mef2a	G	A	7: 67,295,394 (GRCm38)	T80M	probably damaging	Het
Mitd1	T	A	1: 37,885,275 (GRCm38)	I65F	probably benign	Het
Mms19	A	G	19: 41,944,572 (GRCm38)	L1026P	probably damaging	Het
Mtbp	G	T	15: 55,609,526 (GRCm38)	V629L	unknown	Het
Ncapd3	T	A	9: 27,055,505 (GRCm38)	I545N	possibly damaging	Het
Nin	G	A	12: 70,042,768 (GRCm38)	T1291M		Het
Or10z1	T	A	1: 174,250,218 (GRCm38)	K236N	probably damaging	Het
Or5b123	A	T	19: 13,619,833 (GRCm38)	I181F	probably damaging	Het
Orc3	G	T	4: 34,587,032 (GRCm38)	C352*	probably null	Het
Oxct2b	G	A	4: 123,117,757 (GRCm38)	G490D	probably benign	Het
Pcdhb16	A	T	18: 37,479,405 (GRCm38)	T473S	probably benign	Het
Phkg2	G	A	7: 127,582,902 (GRCm38)	G365D	probably damaging	Het
Ppp2r3a	A	T	9: 101,211,712 (GRCm38)	F471I	probably benign	Het
Prl3d1	T	C	13: 27,100,035 (GRCm38)	C196R	possibly damaging	Het
Prmt1	A	T	7: 44,984,128 (GRCm38)	F14L	probably benign	Het
Prox1	A	G	1: 190,162,221 (GRCm38)	L9P	probably damaging	Het
Ptpn13	T	A	5: 103,540,983 (GRCm38)	F881I	probably benign	Het
Rab3ip	A	G	10: 116,914,139 (GRCm38)	I363T	probably benign	Het
Rapgef3	T	C	15: 97,761,209 (GRCm38)	E134G	probably damaging	Het
Rapgef6	C	T	11: 54,694,453 (GRCm38)	P1559L	probably benign	Het
Rnf180	T	C	13: 105,167,588 (GRCm38)	K507E	probably damaging	Het
Rpl3l	T	C	17: 24,730,986 (GRCm38)	I53T	probably benign	Het
Rtl1	T	C	12: 109,591,008 (GRCm38)	I1466V	unknown	Het
Saxo2	A	G	7: 82,635,351 (GRCm38)	Y100H	probably damaging	Het
Selenoh	G	T	2: 84,670,380 (GRCm38)	R39S	probably damaging	Het
Sgsm2	A	G	11: 74,865,497 (GRCm38)	V342A	probably damaging	Het
Slc26a9	T	A	1: 131,763,244 (GRCm38)	F587I	possibly damaging	Het
Smoc1	A	T	12: 81,105,908 (GRCm38)	Q91L	possibly damaging	Het
Spag9	A	C	11: 93,996,563 (GRCm38)	H98P	possibly damaging	Het
Spata31e3	T	G	13: 50,247,086 (GRCm38)	K401N	probably benign	Het
T2	T	A	17: 8,418,215 (GRCm38)	C337*	probably null	Het
Thbd	A	G	2: 148,407,420 (GRCm38)	L176P	probably damaging	Het
Tmem116	A	G	5: 121,452,189 (GRCm38)		probably null	Het
Tmem25	C	T	9: 44,798,343 (GRCm38)	V54I	possibly damaging	Het
Trpm4	C	T	7: 45,321,809 (GRCm38)	V378I	probably benign	Het
Trrap	G	T	5: 144,842,612 (GRCm38)	W3129C	probably damaging	Het
Ttn	A	T	2: 76,728,316 (GRCm38)	D29740E	probably damaging	Het
Vcan	C	T	13: 89,685,114 (GRCm38)	C3073Y	probably damaging	Het
Xrra1	T	A	7: 99,910,982 (GRCm38)	D388E	probably benign	Het

Other mutations in Tbc1d19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01121:Tbc1d19	APN	5	53,897,062 (GRCm38)	nonsense	probably null
IGL01684:Tbc1d19	APN	5	53,856,879 (GRCm38)	missense	probably benign	0.31
IGL02476:Tbc1d19	APN	5	53,889,413 (GRCm38)	splice site	probably null
IGL02869:Tbc1d19	APN	5	53,835,217 (GRCm38)	missense	probably benign	0.02
IGL03036:Tbc1d19	APN	5	53,897,047 (GRCm38)	missense	probably damaging	1.00
IGL03099:Tbc1d19	APN	5	53,883,655 (GRCm38)	splice site	probably benign
LCD18:Tbc1d19	UTSW	5	53,816,709 (GRCm38)	intron	probably benign
R0194:Tbc1d19	UTSW	5	53,860,156 (GRCm38)	missense	probably damaging	1.00
R1729:Tbc1d19	UTSW	5	53,829,372 (GRCm38)	missense	probably damaging	1.00
R1776:Tbc1d19	UTSW	5	53,889,311 (GRCm38)	splice site	probably null
R1784:Tbc1d19	UTSW	5	53,829,372 (GRCm38)	missense	probably damaging	1.00
R1902:Tbc1d19	UTSW	5	53,829,353 (GRCm38)	missense	probably benign	0.00
R3431:Tbc1d19	UTSW	5	53,848,206 (GRCm38)	unclassified	probably benign
R3432:Tbc1d19	UTSW	5	53,848,206 (GRCm38)	unclassified	probably benign
R4333:Tbc1d19	UTSW	5	53,872,277 (GRCm38)	missense	possibly damaging	0.93
R4335:Tbc1d19	UTSW	5	53,872,277 (GRCm38)	missense	possibly damaging	0.93
R4681:Tbc1d19	UTSW	5	53,872,253 (GRCm38)	missense	probably damaging	1.00
R4812:Tbc1d19	UTSW	5	53,809,806 (GRCm38)	missense	probably damaging	0.99
R5178:Tbc1d19	UTSW	5	53,889,325 (GRCm38)	missense	possibly damaging	0.84
R5214:Tbc1d19	UTSW	5	53,849,841 (GRCm38)	missense	probably benign	0.00
R6265:Tbc1d19	UTSW	5	53,837,924 (GRCm38)	missense	probably benign	0.06
R6372:Tbc1d19	UTSW	5	53,856,910 (GRCm38)	missense	possibly damaging	0.55
R6494:Tbc1d19	UTSW	5	53,829,383 (GRCm38)	missense	probably benign	0.13
R6495:Tbc1d19	UTSW	5	53,889,213 (GRCm38)	splice site	probably null
R6612:Tbc1d19	UTSW	5	53,809,845 (GRCm38)	missense	possibly damaging	0.88
R6787:Tbc1d19	UTSW	5	53,835,249 (GRCm38)	splice site	probably null
R6965:Tbc1d19	UTSW	5	53,856,924 (GRCm38)	critical splice donor site	probably null
R7275:Tbc1d19	UTSW	5	53,872,276 (GRCm38)	missense	probably damaging	1.00
R7642:Tbc1d19	UTSW	5	53,856,918 (GRCm38)	missense	probably damaging	0.98
R7656:Tbc1d19	UTSW	5	53,897,035 (GRCm38)	missense	probably damaging	1.00
R8314:Tbc1d19	UTSW	5	53,897,047 (GRCm38)	missense	probably damaging	1.00
R8479:Tbc1d19	UTSW	5	53,883,689 (GRCm38)	missense	possibly damaging	0.83
X0026:Tbc1d19	UTSW	5	53,835,247 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTCTGACATTCTATAGCTTTTAG -3'
(R):5'- GGAACGTGTTTTCTAAACCTGC -3'

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

Posted On

2019-11-12