Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01121:Tbc1d19'

51146

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d19

Ensembl Gene

ENSMUSG00000039178

Gene Name

TBC1 domain family, member 19

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

IGL01121

Quality Score

Status

Chromosome

Chromosomal Location

53809606-53903965 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 53897062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 464 (L464*)

Ref Sequence

ENSEMBL: ENSMUSP00000040585 (fasta)

Gene Model

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

AlphaFold

Q8VDV7

Predicted Effect

probably null
Transcript: ENSMUST00000037337
AA Change: L464*

SMART Domains

Protein: ENSMUSP00000040585
Gene: ENSMUSG00000039178
AA Change: L464*

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	G	A	18: 62,755,148		noncoding transcript	Het
4930432E11Rik	A	T	7: 29,574,001		noncoding transcript	Het
Alg3	T	C	16: 20,610,647	E31G	probably damaging	Het
Arhgap29	A	G	3: 122,009,863	E764G	probably damaging	Het
Atp5j2	C	A	5: 145,184,568	V68L	probably benign	Het
Birc6	T	A	17: 74,631,038	I2645K	probably benign	Het
Capn11	A	G	17: 45,639,132	S369P	probably benign	Het
Car4	A	T	11: 84,964,346		probably null	Het
Ccdc185	C	T	1: 182,748,657	V156I	probably benign	Het
Cpsf2	G	T	12: 101,988,706	E245D	probably damaging	Het
Dnah11	T	C	12: 118,050,695	D2019G	probably benign	Het
Dscc1	A	G	15: 55,082,325		probably benign	Het
Dzip3	T	C	16: 48,944,881	D490G	probably benign	Het
E2f8	G	A	7: 48,867,821	Q745*	probably null	Het
Fat3	T	A	9: 15,998,401	T2102S	probably benign	Het
Fgf7	C	T	2: 126,088,232		probably benign	Het
Fstl4	T	C	11: 52,814,637	F47L	probably benign	Het
Gm15097	A	T	X: 149,804,328	R129S	possibly damaging	Het
Gm4297	C	T	X: 24,552,615	D200N	probably benign	Het
Itgb5	G	T	16: 33,919,989	D490Y	probably benign	Het
Kansl1	A	G	11: 104,335,596	S912P	probably benign	Het
Kcnq3	A	T	15: 66,005,977		probably benign	Het
Kctd6	A	G	14: 8,222,656	H166R	possibly damaging	Het
Kel	T	C	6: 41,702,409	D140G	probably benign	Het
Lrif1	C	A	3: 106,735,664	S177*	probably null	Het
Lrp1	A	T	10: 127,583,853	C962*	probably null	Het
Lypd5	A	T	7: 24,351,551	Y29F	probably benign	Het
Mmrn1	A	G	6: 60,975,944	D403G	possibly damaging	Het
Nhsl1	T	G	10: 18,511,710	V244G	probably damaging	Het
Olfr781	T	C	10: 129,332,935	I18T	probably benign	Het
Ptprd	A	T	4: 75,954,201		probably benign	Het
Rcan2	A	T	17: 44,017,884	I69L	probably damaging	Het
Rprd2	A	G	3: 95,776,550	L373P	probably damaging	Het
Slc10a4	T	C	5: 73,007,586	C174R	probably damaging	Het
Tas2r134	C	T	2: 51,627,989	T160I	probably damaging	Het
Tmem45a2	C	T	16: 57,040,790	D225N	possibly damaging	Het
Unc79	G	A	12: 103,165,631	C2139Y	probably damaging	Het
Vmn2r101	G	T	17: 19,589,674	G241C	probably damaging	Het
Vmn2r91	T	C	17: 18,136,504	V811A	possibly damaging	Het
Wdr11	T	C	7: 129,628,022	Y844H	probably benign	Het
Wdr70	T	C	15: 7,873,174	K656E	possibly damaging	Het
Zfp579	C	A	7: 4,993,247	C555F	possibly damaging	Het

Other mutations in Tbc1d19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Tbc1d19	APN	5	53856879	missense	probably benign	0.31
IGL02476:Tbc1d19	APN	5	53889413	splice site	probably null
IGL02869:Tbc1d19	APN	5	53835217	missense	probably benign	0.02
IGL03036:Tbc1d19	APN	5	53897047	missense	probably damaging	1.00
IGL03099:Tbc1d19	APN	5	53883655	splice site	probably benign
LCD18:Tbc1d19	UTSW	5	53816709	intron	probably benign
R0194:Tbc1d19	UTSW	5	53860156	missense	probably damaging	1.00
R1729:Tbc1d19	UTSW	5	53829372	missense	probably damaging	1.00
R1776:Tbc1d19	UTSW	5	53889311	splice site	probably null
R1784:Tbc1d19	UTSW	5	53829372	missense	probably damaging	1.00
R1902:Tbc1d19	UTSW	5	53829353	missense	probably benign	0.00
R3431:Tbc1d19	UTSW	5	53848206	unclassified	probably benign
R3432:Tbc1d19	UTSW	5	53848206	unclassified	probably benign
R4333:Tbc1d19	UTSW	5	53872277	missense	possibly damaging	0.93
R4335:Tbc1d19	UTSW	5	53872277	missense	possibly damaging	0.93
R4681:Tbc1d19	UTSW	5	53872253	missense	probably damaging	1.00
R4812:Tbc1d19	UTSW	5	53809806	missense	probably damaging	0.99
R5178:Tbc1d19	UTSW	5	53889325	missense	possibly damaging	0.84
R5214:Tbc1d19	UTSW	5	53849841	missense	probably benign	0.00
R6265:Tbc1d19	UTSW	5	53837924	missense	probably benign	0.06
R6372:Tbc1d19	UTSW	5	53856910	missense	possibly damaging	0.55
R6494:Tbc1d19	UTSW	5	53829383	missense	probably benign	0.13
R6495:Tbc1d19	UTSW	5	53889213	splice site	probably null
R6612:Tbc1d19	UTSW	5	53809845	missense	possibly damaging	0.88
R6787:Tbc1d19	UTSW	5	53835249	splice site	probably null
R6965:Tbc1d19	UTSW	5	53856924	critical splice donor site	probably null
R7275:Tbc1d19	UTSW	5	53872276	missense	probably damaging	1.00
R7642:Tbc1d19	UTSW	5	53856918	missense	probably damaging	0.98
R7655:Tbc1d19	UTSW	5	53897035	missense	probably damaging	1.00
R7656:Tbc1d19	UTSW	5	53897035	missense	probably damaging	1.00
R8314:Tbc1d19	UTSW	5	53897047	missense	probably damaging	1.00
R8479:Tbc1d19	UTSW	5	53883689	missense	possibly damaging	0.83
X0026:Tbc1d19	UTSW	5	53835247	critical splice donor site	probably null

Posted On

2013-06-21