Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01906:Ap5b1'

179660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap5b1

Ensembl Gene

ENSMUSG00000049562

Gene Name

adaptor-related protein complex 5, beta 1 subunit

Synonyms

Gm962

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL01906

Quality Score

Status

Chromosome

Chromosomal Location

5618053-5621289 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 5621007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 809 (L809*)

Ref Sequence

ENSEMBL: ENSMUSP00000094042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096318]

AlphaFold

Q3TAP4

Predicted Effect

probably null
Transcript: ENSMUST00000096318
AA Change: L809*

SMART Domains

Protein: ENSMUSP00000094042
Gene: ENSMUSG00000049562
AA Change: L809*

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
low complexity region	68	75	N/A	INTRINSIC
low complexity region	84	104	N/A	INTRINSIC
low complexity region	114	136	N/A	INTRINSIC
low complexity region	185	199	N/A	INTRINSIC
low complexity region	283	301	N/A	INTRINSIC
low complexity region	410	428	N/A	INTRINSIC
low complexity region	511	524	N/A	INTRINSIC
low complexity region	616	644	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,166,225 (GRCm39)	Q24L	probably damaging	Het
Adam1b	A	T	5: 121,639,538 (GRCm39)	N502K	probably benign	Het
Adam6a	T	A	12: 113,507,951 (GRCm39)	M108K	probably benign	Het
Akr1b10	A	G	6: 34,364,746 (GRCm39)	K69R	probably benign	Het
Asxl3	A	T	18: 22,655,338 (GRCm39)	H1116L	probably benign	Het
Birc6	A	G	17: 74,945,353 (GRCm39)	T2794A	probably damaging	Het
Bst1	T	C	5: 43,994,861 (GRCm39)	F248L	probably damaging	Het
Cep120	A	T	18: 53,847,984 (GRCm39)	V625E	probably benign	Het
Cgnl1	T	C	9: 71,631,849 (GRCm39)	M501V	probably benign	Het
Col19a1	T	A	1: 24,356,510 (GRCm39)	D661V	probably damaging	Het
Copb2	A	T	9: 98,462,383 (GRCm39)	E456V	probably benign	Het
Csk	A	G	9: 57,536,304 (GRCm39)	I201T	probably damaging	Het
Cttnbp2	G	T	6: 18,378,375 (GRCm39)	S977*	probably null	Het
Ddr2	A	G	1: 169,809,668 (GRCm39)	W770R	probably damaging	Het
Dnah7b	T	C	1: 46,214,613 (GRCm39)	I1126T	probably damaging	Het
Ephb4	A	T	5: 137,359,456 (GRCm39)	E342V	probably damaging	Het
Erc2	T	A	14: 27,863,263 (GRCm39)	L496Q	probably damaging	Het
Faim2	G	A	15: 99,412,314 (GRCm39)	T140I	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Haus3	A	C	5: 34,325,667 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,543,638 (GRCm39)	T2846A	probably benign	Het
Mto1	T	C	9: 78,372,213 (GRCm39)	V561A	probably benign	Het
Myb	T	C	10: 21,028,533 (GRCm39)	Y110C	probably damaging	Het
Or4k36	T	C	2: 111,146,246 (GRCm39)	C141R	probably damaging	Het
Plcd3	T	C	11: 102,967,682 (GRCm39)	Y420C	probably damaging	Het
Plk4	G	T	3: 40,764,816 (GRCm39)	M603I	probably null	Het
Scgb1b24	T	C	7: 33,443,538 (GRCm39)	C66R	probably damaging	Het
Sec23a	T	C	12: 59,053,830 (GRCm39)	Y56C	probably damaging	Het
Setd1b	C	A	5: 123,295,730 (GRCm39)	D1099E	unknown	Het
Sh2d7	G	A	9: 54,446,750 (GRCm39)		probably benign	Het
Slc30a10	A	T	1: 185,188,593 (GRCm39)	K221*	probably null	Het
Slc5a1	T	C	5: 33,311,997 (GRCm39)	L463P	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,208,115 (GRCm39)	T419A	probably benign	Het
Styxl2	A	C	1: 165,927,092 (GRCm39)	L840R	probably damaging	Het
Ttc39a	T	C	4: 109,278,591 (GRCm39)	M82T	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vps13b	T	C	15: 35,639,993 (GRCm39)		probably benign	Het

Other mutations in Ap5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02121:Ap5b1	APN	19	5,620,815 (GRCm39)	missense	possibly damaging	0.92
R1513:Ap5b1	UTSW	19	5,619,892 (GRCm39)	nonsense	probably null
R2004:Ap5b1	UTSW	19	5,620,502 (GRCm39)	missense	possibly damaging	0.83
R2036:Ap5b1	UTSW	19	5,618,897 (GRCm39)	missense	possibly damaging	0.83
R2282:Ap5b1	UTSW	19	5,619,665 (GRCm39)	missense	possibly damaging	0.66
R3441:Ap5b1	UTSW	19	5,620,011 (GRCm39)	missense	probably benign
R3835:Ap5b1	UTSW	19	5,618,918 (GRCm39)	missense	possibly damaging	0.66
R4241:Ap5b1	UTSW	19	5,618,825 (GRCm39)	missense	possibly damaging	0.92
R5324:Ap5b1	UTSW	19	5,619,863 (GRCm39)	missense	possibly damaging	0.66
R5359:Ap5b1	UTSW	19	5,619,126 (GRCm39)	missense	possibly damaging	0.83
R7102:Ap5b1	UTSW	19	5,620,215 (GRCm39)	missense	possibly damaging	0.92
R7132:Ap5b1	UTSW	19	5,619,412 (GRCm39)	nonsense	probably null
R8548:Ap5b1	UTSW	19	5,621,123 (GRCm39)	missense	possibly damaging	0.46
Z1088:Ap5b1	UTSW	19	5,620,452 (GRCm39)	missense	possibly damaging	0.82
Z1177:Ap5b1	UTSW	19	5,620,956 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07